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NCI CANCERLIT® Search: Retinoblastoma, Hereditary - January 2002
National Cancer Institute®
Ultima Vez Modificado: 1 de enero del 2002
Table of Contents
1
UI - 10646842
AU - Claudio PP; Howard CM; Fu Y; Cinti C; Califano L; Micheli P; Mercer EW;
TI -
Caputi M; Giordano A
Mutations in the retinoblastoma-related gene RB2/p130 in primary
nasopharyngeal carcinoma.
SO - Cancer Res 2000 Jan 1;60(1):8-12
AD - Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson
University, and Sbarro Institute for Cancer Research and Molecular
Medicine, Philadelphia, Pennsylvania 19107, USA.
Nasopharyngeal carcinoma (NPC) is an endemic cancer in southern China
and northern Africa, and its pathogenesis is not yet well defined at the
molecular level. Although the involvement of p53 and of the
retinoblastoma gene (RB/p105) in NPC has been well studied, there is
paucity of mutational data regarding the retinoblastoma-related gene
RB2/p130 in primary tumors and particularly in NPC. We have shown
previously that RB2/p130 could be rearranged in a nasopharyngeal cell
line. In the present study, we screened by single-strand conformation
polymorphism and sequence analysis the retinoblastoma-related gene
RB2/p130 for mutations within exons 19-22. Mutations in the RB2/p130
gene were detected in 3 of 10 primary human NPCs from Northern Africa
(30%). These findings, along with previous data showing that genetic
replacement of RB2/p130 restores a normal growth pathway in the
nasopharyngeal cell line Hone-1, strengthen the hypothesis that genetic
changes of RB2/p130 may be involved in the development and/or
progression of nasopharyngeal cancer and suggest that RB2/p130 could be
considered a tumor suppressor gene and may be a candidate for novel gene
therapeutic approaches for NPC.
2
UI - 11495315
AU - Ganesh A; Kenue RK; Mitra S
TI -
Retinoblastoma and the 13q deletion syndrome.
SO - J Pediatr Ophthalmol Strabismus 2001 Jul-Aug;38(4):247-50
AD - Department of Ophthalamology, Sultan Qaboos University Hospital, Muscat,
Sultanate of Oman.
3
UI - 11524739
AU - Yu YS; Kim IJ; Ku JL; Park JG
TI -
Identification of four novel RB1 germline mutations in Korean
retinoblastoma patients.
SO - Hum Mutat 2001 Sep;18(3):252
AD - Department of Ophthalmology, Clinical Research Institute, Seoul National
University Hospital, Seoul, Korea.
To elucidate RB1 germline mutations in Korean retinoblastoma patients,
DNA samples from 14 children with bilateral (including three familial
cases) and 19 children with unilateral retinoblastoma were analyzed. We
found germline mutations in three out of 14 bilateral cases and one out
of 19 unilateral cases. There were no germline mutations in the three
familial cases. PCR-SSCP from each exon showed bandshifts in four
patients which, upon sequencing, were shown to be K616E in exon 19
(c.1846A>G), an AA insertion in exon 7 (c.684-685insAA), R500G in exon
16 (c.1498A>G), and an A insertion in exon 23 (c.2391-2392insA),
respectively. Hum Mutat 18:252, 2001. Copyright 2001 Wiley-Liss, Inc.
4
UI - 11549509
AU - Haitel A; Wiener HG; Neudert B; Marberger M; Susani M
TI -
Expression of the cell cycle proteins p21, p27, and pRb in clear cell
renal cell carcinoma and their prognostic significance.
SO - Urology 2001 Sep;58(3):477-81
AD - Department of Pathology, University of Vienna, Vienna, Austria.
OBJECTIVES: To determine whether p21, p27, and pRb can predict disease
progression in clear cell renal cell carcinoma. METHODS: The expression
of three negative regulators of the cell cycle, the retinoblastoma gene
product (pRb), the WAF1/Cip1 gene product (p21), and the Kip1 gene
product (p27), was investigated by immunohistochemistry on paraffin
sections from 104 formalin-fixed clear cell carcinoma specimens and
related to p53 overexpression, the clinicopathologic parameters, and
survival. RESULTS: pRb expression was not associated with tumor stage,
but the correlation with p27 and p21 positivity was statistically
significant (r = 0.26, P = 0.008 and r = 0.3, P = 0.002, respectively).
Tumors representing p53 overexpression showed a higher pRb labeling
index compared with p53-negative tumors (P = 0.0004). p21 protein
expression correlated significantly with p27 positivity (r = 0.2, P =
0.04) and was associated with p53 overexpression (P = 0.0005), but did
not correlate with tumor stage or grade. No association could be found
between p27 positivity and tumor grade, tumor stage, or p53
overexpression. In univariate survival analysis, an increased pRb
positivity (P = 0.002) and a low p27 expression (P = 0.0001) predicted a
poor outcome, especially if combined with p53 overexpression (P = 0.004
and P = 0.0002, respectively). p21 did not give any prognostic
information. Moreover, in multivariate analysis, pRb and p27 were
revealed to be statistically significant. CONCLUSIONS: The results of
our study indicate that in clear cell renal cell carcinoma, the cell
cycle proteins p27 and pRb are powerful and independent prognostic
factors and that p21 has no predictive value.
5
UI - 11568901
AU - Cohen JG; Dryja TP; Davis KB; Diller LR; Li FP
TI -
RB1 genetic testing as a clinical service: a follow-up study.
SO - Med Pediatr Oncol 2001 Oct;37(4):372-8
AD - Dana Farber Cancer Institute, Smith 201, 44 Binney Street, Boston, MA
02115, USA.
BACKGROUND: Genetic testing for inherited predisposition to diverse
cancers has recently become available as a clinical service. We
conducted a follow-up study of the initial series of US families who
underwent RB1 genetic testing to evaluate long-term effects of the
service. PROCEDURE: We enrolled 52 of 71 eligible families who responded
to a follow-up study questionnaire administered 3-10 years after receipt
of their RB1 results. Each family had one proband with unilateral,
non-familial retinoblastoma, which is associated with a 12% pre-test
probability of hereditary retinoblastoma. RB1 testing identified
germline RB1 mutations in five patients, lowered the carrier probability
to 2% in 21 patients, and did not substantially modify the carrier
probability in the remaining 26. RESULTS: Diverse medical specialists
offered and arranged for RB1 testing, and their recommendation was the
most influential factor in the decision to be tested. Pre-test
counseling was provided by ophthalmologists (30), oncologists (11), and
geneticists and genetic counselors (11). Most respondents, regardless of
test result, were satisfied and perceived gains from their genetic
testing. Based on small numbers, families with reduced likelihood of
hereditary retinoblastoma reported more positive outcomes. Parents of
RB1 carriers were more likely to seek medical services, worry, and
decide against having more children. CONCLUSIONS: This study
demonstrates the feasibility of follow-up studies of families who had
genetic testing. Results from our small series suggest that genetic
information and counseling are important components of RB1 clinical
genetic testing, and long-term adverse effects of testing are uncommon.
Copyright 2001 Wiley-Liss, Inc.
6
UI - 11571558
AU - Genuardi M; Klutz M; Devriendt K; Caruso D; Stirpe M; Lohmann DR
TI -
Multiple lipomas linked to an RB1 gene mutation in a large pedigree with
low penetrance retinoblastoma.
SO - Eur J Hum Genet 2001 Sep;9(9):690-4
AD - Medical Genetics, A. Gemelli School of Medicine, Catholic University,
Rome, Italy.
Hereditary predisposition to lipomas is observed in familial multiple
lipomatosis (OMIM 151900) and benign cervical lipomatosis (OMIM 151800)
and can also be associated with mutations in the MEN1 and PTEN genes
(OMIM 131100 and 153480, respectively). In addition, a recent report
indicates that a few patients with hereditary retinoblastoma also have
lipomas. Here we report on an extended family segregating a splice site
mutation in the RB1 gene. Almost all adult carriers of this mutation had
multiple lipomas while penetrance for retinoblastoma was incomplete. In
an unrelated pedigree, which was reported previously, the identical
mutation was only associated with low-penetrance retinoblastoma but not
lipomas. Our data indicate that lipoma predisposition in hereditary
retinoblastoma is not associated with specific RB1 gene mutations but is
influenced by modifying factors linked to this gene.
7
UI - 11689590
AU - Nishimura S; Sato T; Ueda H; Ueda K
TI -
Acute myeloblastic leukemia as a second malignancy in a patient with
hereditary retinoblastoma.
SO - J Clin Oncol 2001 Nov 1;19(21):4182-3
8
UI - 11702879
AU - Elias WJ; Lopes MB; Golden WL; Jane JA Sr; Gonzalez-Fernandez F
TI -
Trilateral retinoblastoma variant indicative of the relevance of the
retinoblastoma tumor-suppressor pathway to medulloblastomas in humans.
SO - J Neurosurg 2001 Nov;95(5):871-8
AD - Department of Neurological Surgery, University of Virginia Health
Sciences Center, Charlottesville 22908, USA.
Results of recent studies have led investigators to suggest that the
retinoblastoma tumor-suppressor (rb) gene plays an underappreciated role
in the genesis of brain tumors. Such tumors cause significant rates of
mortality in children suffering from hereditary retinoblastoma. It has
been assumed that the pineal gland, which is ontogenetically related to
the retina, accounts for the intracranial origin of these trilateral
neoplasms. To address this issue, the authors describe an unusual
trilateral retinoblastoma variant. The authors provide a detailed
clinicopathological correlation by describing the case of a child with
bilateral retinoblastoma who died of a medulloblastoma. The intraocular
and intracranial neoplasms were characterized by performing detailed
imaging, histopathological, and postmortem studies. Karyotype analysis
and fluorescence in situ hybridization were used to define the
chromosomal defect carried by the patient and members of her family. An
insertion of the q12.3q21.3 segment of chromosome 13 into chromosome 18
at band q23 was identified in members of the patient's family. This
translocation was unbalanced in the proband. The intraocular and
cerebellar neoplasms were found to be separate primary neoplasms.
Furthermore, the pineal gland was normal and the cerebellar neoplasm
arose within the vermis as a medulloblastoma. Finally, the two neoplasms
had different and characteristically identifiable cytolological and
immunohistochemical profiles. The findings of the present study, taken
together with those of recent molecular and transgenic studies, support
the emerging concept that rb inactivation is not restricted to central
nervous system regions of photoreceptor lineage and that inactivation of
this tumor suppressor pathway may be relevant to the determination of
etiological factors leading to medulloblastoma in humans.
9
UI - 11724291
AU - Fiedler U; Ehlers W; Meye A; Fussel S; Faller G; Schmidt U; Wirth MP
TI -
LOH analyses in the region of the putative tumour suppressor gene C13 on
chromosome 13q13.
SO - Anticancer Res 2001 Jul-Aug;21(4A):2341-50
AD - Department of Urology, Technical University Dresden, University
Erlangen, Germany.
BACKGROUND: In previous studies we isolated a new cDNA fragment named
C13 which is down-regulated in malignant prostate tissues. The
corresponding gene is localized on chromosome 13q13 between the known
tumour suppressor genes (TSG) BRCA-2 and RB-1. MATERIALS AND METHODS:
Loss of heterozygosity (LOH) analyses were carried out in the region of
C13 in order to investigate the importance of the new putative TSG for
prostate cancer development. Using semiquantitative LOH analysis, we
screened 21 prostate carcinoma patients of different tumour stages
(pT2-pT4) for 14 microsatellite markers in the region of C13 (13q13) and
in the flanking BRCA-2 and the RB-1 loci. RESULTS: For 18 (86%) patients
LOH or allelic imbalances were found. We identified three to nine
alterations in affected tumours per marker. An overall genetic
alteration frequency per patient of 38% (86 of 225 informative cases)
could be calculated. One important finding regarding the overall
frequency of determined microsatellite instability is that the LOH/AI
rate of 47% for the seven C13-associated markers was higher than for the
four markers of the RB-1 locus (39%) and for the three BRCA-2 markers
(25%). Surprisingly, defining LOH critical regions (LCR) for the
investigated marker panel, eight of the ten affected LCR cases showed
chromosomal imbalances simultaneously for the RB-1 and the C13 LOH
markers. CONCLUSIONS: The high LOH rate for eight different
microsatellite markers in and around the putative TSG locus C13 on
chromosome 13q13 further supports an involvement of C13 in prostate
tumourigenesis.
10
UI - 11727614
AU - Imhof SM; Moll AC; Schouten-van Meeteren AY
TI -
[Intraocular retinoblastoma: new therapeutic options]
SO - Ned Tijdschr Geneeskd 2001 Nov 10;145(45):2165-70
AD - Afd. Oogheelkunde, VU Medisch Centrum, De Boelelaan 1117, 1081 HV
Amsterdam. s.imhof@vumc.nl
Retinoblastoma is the most frequently occurring primary intraocular
malignant tumour in children (12-15 new patients per year in the
Netherlands). It occurs in one or two eyes. Bilateral retinoblastoma,
which occurs in 40% of the cases, is always hereditary; unilateral
retinoblastoma, which is found in 60% of cases, is hereditary in 10% of
these cases. The presenting symptoms are: leucocoria, strabismus or a
red, painful eye. Early detection of retinoblastoma is important for the
chance of survival, the visual prognosis and preservation of the eye.
The choice of treatment is based on the risk of metastases, the diameter
and the location of the tumour, the age of the patient, the heredity and
the visual prognosis. Nowadays, treatment more often consists of a
combination of techniques. Enucleation is carried out when a large
tumour fills over half of the globe; often this is the only possible
treatment. Small tumours (diameter and thickness < 2 mm) in the centre
of the retina can be treated with laser therapy and those in the
peripheral retina by cryotherapy. Small to medium-sized tumours (< 8 mm
diameter) can be treated with thermochemotherapy: systemic chemotherapy
and laser hyperthermia, if necessary with adjuvant laser therapy or
brachytherapy. Medium-sized tumours (< 8 mm thick) can be treated with
just brachytherapy, sometimes preceded by chemoreduction.
11
UI - 11709023
AU - Harbour JW
TI -
Molecular basis of low-penetrance retinoblastoma.
SO - Arch Ophthalmol 2001 Nov;119(11):1699-704
AD - Washington University, Campus Box 8069, 660 S Euclid Ave, St Louis, MO
63110, USA. harbour@vision.wustl.edu
Retinoblastoma is a malignant tumor of the retina that occurs primarily
in young children as a result of mutations in the retinoblastoma gene
(RB), the first tumor suppressor gene to be identified. In about 35% to
40% of patients with retinoblastoma, an RB gene mutation is present in
the germline, resulting in hereditary transmission of the disease. Most
families with hereditary retinoblastoma demonstrate autosomal dominant
inheritance with almost complete penetrance and high expressivity.
However, some families display an inheritance pattern characterized by
reduced penetrance and expressivity. Recent advances in our
understanding of the structure and function of the retinoblastoma
protein (pRB) now provide new insights into the molecular basis of this
low-penetrance form of retinoblastoma. Low-penetrance retinoblastoma
mutations either cause a reduction in the amount of normal pRB that is
produced (class 1 mutations) or result in a partially functional mutant
pRB (class 2 mutations).
12
UI - 11731416
AU - Guo Z; Yikang S; Yoshida H; Mak TW; Zacksenhaus E
TI -
Inactivation of the retinoblastoma tumor suppressor induces apoptosis
protease-activating factor-1 dependent and independent apoptotic
pathways during embryogenesis.
SO - Cancer Res 2001 Dec 1;61(23):8395-400
AD - Division of Cell and Molecular Biology, Toronto General Research
Institute-University Health Network, Department of Medicine, University
of Toronto, Toronto, Ontario, Canada.
Inactivation of the retinoblastoma (Rb) tumor suppressor in the mouse
induces mid-gestational death accompanied by massive apoptosis in
certain tissues. Herein, we analyzed the role of the apoptosis
protease-activating factor Apaf-1, an essential component of the
apoptosome, in mediating apoptosis in Rb-deficient mice. Analysis of
compound mutant embryos lacking Rb and Apaf-1 revealed that Apaf-1 was
absolutely required for apoptosis in the central nervous system and
lens. In contrast, apoptosis in the peripheral nervous system and
skeletal muscles only partly depended on Apaf-1 function. The dependency
on Apaf-1 coincided with the requirement documented previously for E2F1
and p53 in the respective tissues. Loss of Apaf-1 specifically
suppressed apoptosis but not the proliferation and differentiation
defects in Rb-mutant embryos. We also show that the Apaf1+ but not the
Rb+ allele is retained in pituitary tumors arising in Rb+/-:Apaf1+/-
double heterozygous mice. Our results indicate that Apaf-1 plays a
critical role in apoptosis in a subset of tissues and that both
E2F1:p53:Apaf-1-dependent and -independent apoptotic pathways operate
downstream of Rb.
13
UI - 11668642
AU - Jakubowska A; Zajaczek S; Haus O; Limon J; Kostyk E; Krzystolik Z;
TI -
Lubinski J
Novel RB1 gene constitutional mutations found in Polish patients with
familial and/or bilateral retinoblastoma.
SO - Hum Mutat 2001 Nov;18(5):459
AD - Department of Genetics and Pathology, Pomeranian Academy of Medicine,
Szczecin, Poland.
Retinoblastoma is the most common intraocular malignancy in children. It
is estimated that 60 percent of cases are nonhereditary and unilateral,
15% are hereditary and unilateral, and 25 percent are hereditary and
bilateral. Hereditary predisposition for retinoblastoma is caused by
germline mutations in the RB1 gene and is transmitted in an autosomal
dominant manner. Most of the reported mutations are unique to one
family, but there are sites where mutations are recurrent. We have
performed RB1 gene mutation analysis in eight patients with familial
and/or bilateral retinoblastoma by DNA/RNA sequencing. Constitutional
mutations were found in five out of eight patients. Three mutations were
novel: g.IVS7+5G>A, g.156709T>A, and g.IVS21+1G>A (p.G203-E240del,
p.Y659X, and p.I703-E737del). Copyright Wiley-Liss, Inc.
14
UI - 11721186
AU - Dalamon V; Surace E; Borelina D; Ziembar M; Esperante S; Francipane L;
TI -
Davila M; Parma D; Szijan I
Detection of mutations in argentine retinoblastoma patients by
segregation of polymorphisms, exon analysis and cytogenetic test.
SO - Ophthalmic Res 2001 Nov-Dec;33(6):336-9
AD - Genetica y Biologia Molecular, Facultad de Farmacia y Bioquimica,
Universidad de Buenos Aires, Argentina.
The aim of this study was to detect chromosomal and molecular
abnormalities in 16 Argentine families with retinoblastoma (RB).
Chromosomes were analyzed by G-banding, DNA from leukocytes and tumors
was studied by segregation of polymorphisms within RB gene (RB1) and the
DNA from chorionic villus by sequencing. The karyotype of an Rb236
bilateral patient with dismorphic signs revealed a deletion in 13q13-21.
Polymorphism and exon analyses showed a deletion in the 3' end of RB1 in
an Rb72 patient. The mutant RB1 allele, detected by loss of
heterozygosity (LOH) in the tumor, was identified in 14 out of 18
tumors. The analysis of chorionic villus revealed a mutation, a C-to-T
transition in exon 18. Molecular and cytogenetic analyses in families
with RB offer valuable information on how to assess the risk of tumor
development. Copyright 2001 S. Karger AG, Basel
15
UI - 11753676
AU - Zhang D; Vuocolo S; Masciullo V; Sava T; Giordano A; Soprano DR; Soprano
TI -
KJ
Cell cycle genes as targets of retinoid induced ovarian tumor cell
growth suppression.
SO - Oncogene 2001 Nov 29;20(55):7935-44
AD - Department of Microbiology & Immunology, Temple University School of
Medicine, 3400 North Broad Street, Philadelphia, Pennsylvania, PA 19140,
USA.
We have examined the effect of all-trans-retinoic acid (RA) on cell
cycle gene expression in RA sensitive CA-OV3 and RA resistant SK-OV3
ovarian carcinoma cell lines. Gene expression was analysed by multiprobe
RNAse protection, Western blotting and in vitro kinase assays. No
differences were observed between RA sensitive and RA resistant ovarian
carcinoma cells in the levels of expression of many cell cycle genes
including cyclin A, B and E, cdk 2,4 and 6, E2F-1, E2F-2, E2F-3, E2F-4,
E2F-5, DP-1 and DP-2. However, RA sensitive CA-OV3 cells expressed
higher levels of p53, p27, p21, and p16 compared to RA resistant SK-OV3
cells. In addition, RA treatment of CA-OV3 cells resulted in a
significant decrease in hyperphosphorylated RB and RB-2/p130 and
corresponding significant increases in the levels of hypophosphorylated
and/or partially phosphorylated RB-2/p130 protein and hypophosphorylated
RB. Also, RA treatment increased expression of the cdk inhibitor p27 and
decreased activity of cdk 2, cdk 4 and cdk 6. Finally, amounts of
p27-cyclin E and RB-2/p130-E2F4 complexes were found to increase in
CA-OV3 cells growth arrested by RA. These results suggest that the
pocket protein pathways are critical targets for retinoid suppression of
ovarian carcinoma cell growth.
16
UI - 2224792
AU - Greger V; Schirmacher P; Bohl J; Bornemann A; Hurter T; Passarge E;
TI -
Horsthemke B
Possible involvement of the retinoblastoma gene in undifferentiated
sinonasal carcinoma.
SO - Cancer 1990 Nov 1;66(9):1954-9
AD - Institut fur Humangenetik, Universitatsklinikum Essen, Federal Republic
of Germany.
Retinoblastoma tumor formation is initiated by the loss of function of
both alleles of the RB-1 gene on chromosome 13. Patients with the
hereditary form of retinoblastoma carry a germ line mutation at one of
the two homologous gene loci in all cells and have an increased risk for
nonocular tumors (mainly osteosarcoma and other mesenchymal tumors) in
later life. The authors studied a 38-year-old patient with sinonasal
undifferentiated carcinoma (SNUC) who had been treated for bilateral
retinoblastoma by enucleation (left eye) and irradiation (right eye),
respectively. Using molecular probes for the RB-1 gene and other loci on
chromosome 13, the authors detected a deletion at the RB-1 locus in
metastatic SNUC cells that was not present in normal tissue. These
findings indicate that somatic mutations at RB-1 locus may be involved
in the formation or progression of ectodermal tumors.
17
UI - 2096356
AU - Ohnishi Y; Shigeto M; Ishibashi T; Hirata J
TI -
Familial pericentric inversion of chromosome 11 in a child with sporadic
unilateral retinoblastoma.
SO - Ophthalmic Paediatr Genet 1990 Dec;11(4):281-5
AD - Department of Ophthalmology, Faculty of Medicine, Kyushu University,
Fukuoka, Japan.
The authors treated a 12-month-old Japanese boy with sporadic unilateral
retinoblastoma and hereditary chromosomal inversion inv(11)(p11q23).
This chromosomal inversion was also present in the father of the boy.
Cytogenetic analyses of the mother and sister were normal.
Retinoblastoma is associated with constitutional deletion of the long
arm of chromosome 13. The breakpoint in the chromosome 11q23 region is
involved in several malignant hematological diseases, and may be
important in malignant transformation. Therefore, a large number of such
patients with pericentric inversion of chromosome 11 has to be
identified before significance of this chromosomal abnormality can be
determined.
18
UI - 1884549
AU - Araki N; Uchida A; Kimura T; Yoshikawa H; Aoki Y; Ueda T; Takai S; Miki
TI -
T; Ono K
Involvement of the retinoblastoma gene in primary osteosarcomas and
other bone and soft-tissue tumors.
SO - Clin Orthop 1991 Sep;(270):271-7
AD - Department of Orthopaedic Surgery, Osaka University Medical School,
Japan.
The retinoblastoma (Rb) gene, thought by some to be associated with
tumor formation of retinoblastoma as a recessive human oncogene, was
investigated in 57 cases using DNA and RNA from primary osteosarcomas
and other bone and soft-tissue tumors. Eight of 23 osteosarcoma cases
(35%) showed structural alterations of the Rb gene. Three of the eight
demonstrated homozygous deletions, and the remaining five cases showed
heterozygous deletions. Seven out of eight cases represented deletion of
a 7.5-kb HindIII fragment. Northern blot analysis of five cases of
osteosarcoma showed that four demonstrated no detectable Rb gene
transcription, and one case had a truncated 3.5-kb fragment with a faint
4.7-kb band. In the other 34 cases of bone and soft-tissue tumors, two
cases of three malignant fibrous histiocytomas showed an Rb gene
abnormality by Southern blot analysis. These results strongly suggest
that Rb gene alteration is pertinent to the tumorigenesis of most
osteosarcoma cases and some other bone and soft-tissue tumors.
19
UI - 1684533
AU - Hovig E; Lothe R; Farrants G; Brogger A; Fodstad O; Borresen AL
TI -
Chromosome 13 alterations in osteosarcoma cell lines derived from a
patient with previous retinoblastoma.
SO - Cancer Genet Cytogenet 1991 Nov;57(1):31-40
AD - Department of Genetics, Norwegian Radium Hospital, Oslo, Norway.
Various sublines of cells established from an osteosarcoma that
developed in a patient (O.H.) with previous bilateral retinoblastoma
were examined for different restriction fragment-length polymorphisms of
chromosome 13q, as well as for rearrangements of the retinoblastoma gene
using a cDNA probe. The independently established sublines were used to
help separate primary and secondary events taking place in tumorigenesis
of the osteosarcoma of this patient. Information from the present DNA
analysis, taken together with data from cytogenetic and enzymatic
studies on chromosome 13 in the cell lines, revealed both common and
distinct genetic changes on chromosome 13q. The common changes may
indicate the nature of the first and second mutational events in the
development of the osteosarcoma. The first, constitutional cancer
predisposing mutation seemed to be a base mutation or a small
deletion/insertion, and the second event involved a deletion of a larger
part of the long arm of chromosome 13. The distinct genetic changes
included other deletion and duplication events of chromosome 13q. The
existence of multiple sublines with different genetic constitutions
provides improved possibilities for gaining insight into the nature of
the genetic lesions leading to tumor formation, as these may reflect the
clonal variation present in the primary tumor. We also demonstrate the
difficulty of inferring from single tumor cell isolates to properties of
the primary tumor.
20
UI - 1687498
AU - Lasko D; Cavenee W; Nordenskjold M
TI -
Loss of constitutional heterozygosity in human cancer.
SO - Annu Rev Genet 1991;25():281-314
AD - Ludwig Institute for Cancer Research, Montreal, Canada.
21
UI - 4244691
AU - Francois J
TI -
Autosomal chromosome aberrations in ophthalmology.
SO - Int Ophthalmol Clin 1968 Winter;8(4):839-910
22
UI - 1289773
AU - Copeman MC
TI -
The putative melanoma tumor-suppressor gene on human chromosome 6q.
SO - Pathology 1992 Oct;24(4):307-9
AD - Department of Oncology, Royal Alexandra Hospital for Children,
Camperdown, NSW.
The tumorigenicity of malignant melanoma cells may be suppressed
experimentally by the introduction into these cells of human chromosome
6 or mouse chromosome 4. These chromosomes share a homologous region,
contained in human chromosome 6q12-21. Abnormalities of this human
chromosomal region have been found frequently not only in cutaneous and
uveal malignant melanomas, but also in a range of other tumors. In all
these, mutations of tumor-suppressor genes on human chromosome 6q may be
involved. Identification of this putative tumor-suppressor gene may give
new insights into the biology of malignant melanomas, and could pave the
way for new treatment for such tumors, based upon the tumor-suppressor
protein which this gene is likely to encode.
23
UI - 8502883
AU - Gaide AC; Munier F; Suardet L; Pescia G
TI -
[Chromosome abnormalities in solid tumors: various examples studied at
the department of medical genetics]
SO - Rev Med Suisse Romande 1993 Apr;113(4):287-90
AD - Division de genetique medicale, CHUV, Lausanne.
24
UI - 8309761
AU - Kaste SC; Pratt CB
TI -
Radiographic findings in 13q-syndrome.
SO - Pediatr Radiol 1993;23(7):545-8
AD - Department of Diagnostic Imaging, St. Jude Children's Research Hospital,
Memphis, Tennessee.
Of 169 children with retinoblastoma treated at our institution between
1962 and 1993, 5 had concurrent severe mental retardation, hypotonia,
and abnormalities of constitutional chromosome 13. The associated
skeletal abnormalities of these 5 children are described and include
delayed skeletal maturation, metaphyseal abnormalities, microcrania,
facial bone abnormalities, and gracile long bones.
25
UI - 6246802
AU - Riccardi VM
TI -
Chromosomes, embryonal tumors, and birth defects.
SO - Am J Ophthalmol 1980 May;89(5):749-51
26
UI - 7398533
AU - Hittner HM; Riccardi VM; Kretzer FL; Levy CH; Moura RA
TI -
Two-step mutation theory for retinoblastoma: ultrastructural support.
SO - Doc Ophthalmol 1980 Apr 15;48(2):345-62
This study presents previously unreported ultrastructural support for a
model for the incidence of retinoblastoma based upon a two-step mutation
theory. Ostensibly uninvolved retina showed rod outer segment atrophy
and cone outer segment retention correlating with electroretinography,
and obliteration of synaptic development within the outer plexiform
layer of the retina. The retinoblastoma obtained at age 9 days
demonstrated incipient photoreceptor differentiation within the rosette
components and minimal calcification of necrotic regions. A heritable
interstitial deletion of the long arm of chromosome 13 is shown to be
the basis for this child's congenital retinoblastoma.
27
UI - 7413148
AU - Gallie BL
TI -
Gene carrier detection in retinoblastoma.
SO - Ophthalmology 1980 Jun;87(6):591-5
Although the presence of the retinoblastoma (RB) gene is usually made
obvious by bilateral RB tumors, unaffected relatives of RB patients and
unilateral RB patients may also carry the gene. Patients with 13q14
deletion have RB, and segregation of RB with markers (Q-banding and
Esterase D) on chromosome 13 can be studied in some two-generation RB
families. Radiosensitivity of fibroblasts may be a marker or may be
present only in chromosome 13 deletion patients. Growth properties of
fibroblasts suggest that the RB gene itself is expressed in normal
cells. Ultimately, gene-carrier detection may be achieved by defining
gene expression, gene product, or by cloning the gene itself.
28
UI - 7057793
AU - Ejima Y; Sasaki MS; Utsumi H; Kaneko A; Tanooka H
TI -
Radiosensitivity of fibroblasts from patients with retinoblastoma and
chromosome-13 anomalies.
SO - Mutat Res 1982 Feb;103(2):177-84
Diploid fibroblast cell strains derived from 14 patients with various
forms of retinoblastoma (RB) and 5 non-RB patients with constitutional
chromosome anomalies involving chromosome 13 were assayed for their
clonogenic survival after X-irradiation. Cells from a patient with
ataxia telangiectasia (AT) was used as a radiosensitive reference
strain. When compared with cell strains from 7 healthy persons as normal
controls, a marked radiosensitivity was observed in strain from an AT
patient. However, none of the cell strains derived from RB patients or
patients with inborn anomalies in chromosome 13 showed pronounced
deviation from the normal range of radiosensitivity. The findings thus
did not warrant either the RB as radiosensitive genetic disease or the
presence of repair locus on chromosome 13, deletion or triplication of
which was previously suggested to link to radiosensitivity.
29
UI - 2988476
AU - Giraud F; Mattei JF
TI -
[Chromosomal pathology. Recent advances]
SO - Arch Fr Pediatr 1985 Mar;42(3):159-62
30
UI - 7107134
AU - Sang DN; Albert DM; Kuo PK
TI -
Retinoblastoma: clinical observations and histopathological study.
SO - Int Ophthalmol Clin 1982 Fall;22(3):73-102
31
UI - 3894317
AU - Tjio JH; Nichols WW
TI -
History and present status of human chromosome studies.
SO - In Vitro Cell Dev Biol 1985 Jun;21(6):305-13
32
UI - 7125394
AU - Molina M; Santolaya JM; Onaindia ML; Sanchez E; De Garate J
TI -
[Interstitial deletion of the long arms of chromosome 13]
SO - An Esp Pediatr 1982 Apr;16(4):346-51
We present a case of a child with important phenotypic abnormalities
(retinoblastoma, hypoplasia of the thumbs and genital), as well as
craneofacial and evident psychomotor retardation. The chromosomal study
showed a interstitial delection of the long arms of a chromosome from D
group. We try to correlate karyotypes and phenotype, telling about
difficulties that this relation means insisting about the importance of
knowing more cases of chromosome 13 delection. We also think that
subbands analysis represents an important factor in this correlation.
33
UI - 4046476
AU - Broniarczyk-Lobowa A; Augustyniak E; Suprunowicz I; Debiec-Rychterowa M
TI -
[A case of bilateral retinoblastoma in light of genetic counseling]
SO - Klin Oczna 1985 Apr;87(4):167-8
34
UI - 2998249
AU - Cardesa JJ; Blesa E; Duran J; Moreno F; Espinosa J; Zarallo L
TI -
[Genetics and cancer]
SO - An Esp Pediatr 1985 Aug;23(2):116-22
35
UI - 6295935
AU - Evans HJ
TI -
Cytogenetics of heritability in cancer.
SO - IARC Sci Publ 1982;(39):35-56
A possible causal association between chromosome structural change and
neoplastic transformation has long been mooted, particularly since
chromosomal changes occur frequently in the cells of a variety of
malignancies. Only in recent years, however, has the evidence in support
of this contention begun to appear convincing, and this has followed
from the application of developments in cytogenetic techniques. The
advent of methods for revealing specific bands in the human metaphase
complement has enabled all the chromosomes and many chromosomal regions
to be unambiguously identified, and the recent application of prophase
banding methods gives further improvements in resolution. With these
techniques, specific constitutional chromosomal deletions or
translocations have been discovered in inherited cases of retinoblastoma
(del.13q14), Wilms' tumour with aniridia (del.11p13) and renal-cell
carcinoma (t(3:8) (p21:q24)), in which each of the chromosomal changes
appears to be a dominant factor in inheriting a predisposition to a
tissue-specific tumour. A heritability for cancer predisposition is also
associated with the inherited chromosomal instability syndromes of
Bloom's, Fanconi's anaemia and ataxia telangiectasia, although specific
chromosomal changes have not been reported to be associated with the
neoplasms in such individuals, except in some cases of lymphoma and
leukaemia in ataxia telangiectasia. Specific chromosomal translocations
have, however, been recorded in a variety of malignancies, with a
particular involvement of chromosomes 22, 14, 8, 15, 17 and 21. However,
although many hundreds of patients with the specific 9/22 rearrangement
seen in chronic myeloid leukaemia and also those with the 14/8
rearrangement in Burkitt's, and other, lymphomas have been described, no
single case in which these rearrangements were present as constitutional
changes has been reported. The possible nature of the changes seen at
the cytogenetic level in terms of gene content of the chromosomes
involved is discussed.
36
UI - 7173862
AU - Kusnetsova LE; Prigogina EL; Pogosianz HE; Belkina BM
TI -
Similar chromosomal abnormalities in several retinoblastomas.
SO - Hum Genet 1982;61(3):201-4
The study of banded chromosomes of nine sporadic unilateral
retinoblastomas revealed near diploid karyotypes with multiple numerical
and (or) structural abnormalities in all tumors. An identical marker
i(6p) was noted in cells of the modal class of six retinoblastomas.
Extra copies of the short arm of chromosome 6 were observed in seven
tumors: +i(6p) in 6 and +6q-in one. Less regular but repeated findings
were a loss of one sex chromosome, and markers 1p+ and 17q+. The
structure of these markers was not identical in different tumors.
Abnormalities of chromosome 13 were not observed in tumor cells, nor in
blood lymphocytes stimulated by PHA.
37
UI - 7187621
AU - Neetens A; Dumon J; De Smet N; Neetens I
TI -
Chromosomal anomalies in patients with retinoblastoma.
SO - Bull Soc Belge Ophtalmol 1982;203():47-56
38
UI - 6167750
AU - Gilbert F; Balaban G; Breg WR; Gallie B; Reid T; Nichols W
TI -
Homogeneously staining region in a retinoblastoma cell line: relevance
to tumor initiation and progression.
SO - J Natl Cancer Inst 1981 Aug;67(2):301-6
A human retinoblastoma cell line was found to contain a homogeneously
staining region (HSR) on chromosome 1 (at 1p34). An HSR had previously
been identified at the same site in a human neuroblastoma cell line. Of
the original retinoblastoma line, a subpopulation was found which did
not contain the 1pHSR but did contain a 3p+ chromosome in which the
additional segment resembled a small HSR. The 3p+ was most likely the
result of the translocation between the 1pHSR and the short arm of a
chromosome 3. Preliminary results also indicate that the retinoblastoma
cells with the 1pHSR produced tumors in athymic nu/nu mice in an average
of 28 days, while identical numbers of the retinoblastoma cells with the
3p+ (probable HSR) produced tumors in an average of 75 days.
39
UI - 3703488
AU - Traboulsi EI; Jurdi-Nuwayhid F; Frangieh GT; Der Kaloustian VM
TI -
Retinoblastoma in Lebanon.
SO - Ophthalmic Paediatr Genet 1986 Mar;7(1):29-34
The data on 58 patients with retinoblastoma managed at the American
University of Beirut, Medical Center over the last 35 years is reviewed.
The epidemiology, genetics and clinical features of this tumor appear to
be the same in the Middle-East as well as the rest of the world. The
notable difference between the data in this study and that from other
studies is the marked delay in diagnosis of the tumor in this part of
the world leading to a higher incidence of extraocular extension, a more
advanced stage of the disease and poorer survival rates. This seems to
be a feature of medically underdeveloped societies. Increased public
awareness of the early signs and symptoms of the disease, as well as
routine fundoscopy on all infants are advocated to improve early
detection, leading to improved survival rates and prevention of
unnecessary enucleations.
40
UI - 3707294
AU - Pogosianz HE; Kuznetsova LE
TI -
Nonrandom chromosomal changes in retinoblastomas.
SO - Arch Geschwulstforsch 1986;56(2):135-43
The analysis of the karyotype in 76 retinoblastomas (24 our cases and 52
described in the literature) has revealed nonrandom changes of Iq, 6p,
13, 16 and the sex chromosomes. Complete or partial trisomy Iq was
observed in 44 out of 76 tumours. Tetra-or trisomy 6p was found in 35
and 6 cases respectively. Chromosome 13 monosomy or its long arm
deletion was described in 11 tumours. Monosomy 16 and loss of the X or
Y--in 18 and 12 cases. The specific feature of retinoblastoma karyotype
is presence (along with two normal homologues of the pair 6) of the
marker chromosome i (6p). Possible causes of unexpectedly rare
abnormalities of chromosome 13 in retinoblastoma cells were discussed in
the light of well known data on predisposing role of constitutional
deletion 13q14, and recent molecular genetic studies showing the
significance of recessive tumour genes in carcinogenesis. The
cytological signs of gene amplification (HSRs, DMs) were revealed in few
retinoblastomas. However, the recent data on N-myc gene amplification
and its elevated expression in several retinoblastomas indicate that
amplification of the oncogene(s) might be involved in the genesis of
this tumour. Further studies are needed to understand the correlative
role of specific chromosome rearrangements, gene(s) amplification and
action of recessive rb gene, located at 13q14 in initiation and
progression of retinoblastoma.
41
UI - 3013394
AU - Arthur DC
TI -
Genetics and cytogenetics of pediatric cancers.
SO - Cancer 1986 Jul 15;58(2 Suppl):534-40
It is clear that genetic factors play an important role in the
development of some human cancers. These factors may be particularly
influential in the pediatric age group because environmental exposures
have been minimal. Several pediatric solid tumors, including
retinoblastoma and Wilms' tumor, are hereditary. Specific constitutional
chromosome abnormalities have been found in these patients, thus
implicating certain gene regions as being involved in tumorigenesis.
Molecular genetic studies have provided insight into the events
occurring at the DNA level in these gene regions. The role of genetics
in the development of sporadic pediatric malignancies is also beginning
to be elucidated as specific acquired chromosome abnormalities are being
discovered in the malignant cells of these otherwise karyotypically
normal individuals. This paper will review selected hereditary and
nonhereditary pediatric cancers that demonstrate the importance of
genetic considerations in the diagnosis and management of children with
cancer.
42
UI - 3524791
AU - Potluri VR; Helson L; Ellsworth RM; Reid T; Gilbert F
TI -
Chromosomal abnormalities in human retinoblastoma. A review.
SO - Cancer 1986 Aug 1;58(3):663-71
In part because of an association between the tumor and the
constitutional chromosome 13q deletion syndrome and the finding of 13q
deletions or monosomy 13 in retinoblastoma cells from individuals with
normal constitutional karyotypes, chromosome 13q is postulated to
contain a gene responsible for tumorigenesis in retinoblastoma. A review
of the cytogenetics of retinoblastoma (incorporating an analysis of five
previously unpublished cases and 77 cases from the literature) revealed
recurrent abnormalities (in addition to those involving number 13, 21%
of cases) that included: additional copies of 1q
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