Written | 1999-03 | Jean-Loup Huret |
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
Identity |
Atlas_Id | 5037 |
Phylum | Lung, Heart, Skin, Other::Rhabdoid tumor |
WHO/OMS Classification | Lung, Heart, Skin, Other |
Classification |
|
Clinics and Pathology |
Embryonic origin | uncertain histiogenesis |
Epidemiology | RTK occurs in infancy and early childhood, median age is 11 mths; unbalanced sex ratio (1.5M/1F); ERRT have been observed in a broader range of patient ages |
Clinics | often located in the kidney, may occur in various anatomic sites, such as the central nervous system or soft tissues |
Prognosis | highly aggressive; 80% mortality rate with frequent metastases, predominantly pulmonary; a large study 10 yrs ago found a better outcome for girls (> 50% survival) than for boys (10%) |
Cytogenetics |
Cytogenetics Morphological | |
Genes involved and Proteins |
Gene Name | SMARCB1 (SW1/SNF related, matrix associated, actin dependent regulator of chromatin B1) |
Location | 22q11.23 |
Germinal mutation | found in the rhabdoid tumor predisposition syndrome. |
Somatic mutation | mutation and allele loss events in sporadic rhabdoid tumors are in accordance with the two-hit model for neoplasia, as is found in retinoblastoma |
Bibliography |
Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. |
Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B |
Cancer research. 1999 ; 59 (1) : 74-79. |
PMID 9892189 |
Clinicopathologic and cytogenetic analysis of malignant rhabdoid tumor of the central nervous system. |
Hasserjian RP, Folkerth RD, Scott RM, Schofield DE |
Journal of neuro-oncology. 1995 ; 25 (3) : 193-203. |
PMID 8592169 |
The clinicopathologic spectrum of putative extrarenal rhabdoid tumors. An analysis of 42 cases studied with immunohistochemistry or electron microscopy. |
Parham DM, Weeks DA, Beckwith JB |
The American journal of surgical pathology. 1994 ; 18 (10) : 1010-1029. |
PMID 8092393 |
Cytogenetic and molecular analysis of a t(1;22)(p36;q11.2) in a rhabdoid tumor with a putative homozygous deletion of chromosome 22. |
Rosty C, Peter M, Zucman J, Validire P, Delattre O, Aurias A |
Genes, chromosomes & cancer. 1998 ; 21 (2) : 82-89. |
PMID 9491318 |
Loss of heterozygosity at chromosome regions 22q11-12 and 11p15.5 in renal rhabdoid tumors. |
Schofield DE, Beckwith JB, Sklar J |
Genes, chromosomes & cancer. 1996 ; 15 (1) : 10-17. |
PMID 8824720 |
Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. |
Versteege I, Sévenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, Aurias A, Delattre O |
Nature. 1998 ; 394 (6689) : 203-206. |
PMID 9671307 |
Renal neoplasms mimicking rhabdoid tumor of kidney. A report from the National Wilms' Tumor Study Pathology Center. |
Weeks DA, Beckwith JB, Mierau GW, Zuppan CW |
The American journal of surgical pathology. 1991 ; 15 (11) : 1042-1054. |
PMID 1656802 |
Malignant rhabdoid tumors: a clinicopathologic review and conceptual discussion. |
Wick MR, Ritter JH, Dehner LP |
Seminars in diagnostic pathology. 1995 ; 12 (3) : 233-248. |
PMID 8545590 |
Citation |
This paper should be referenced as such : |
Huret, JL |
Rhabdoid tumor |
Atlas Genet Cytogenet Oncol Haematol. 1999;3(2):105-106. |
Free journal version : [ pdf ] [ DOI ] |
On line version : http://AtlasGeneticsOncology.org/Tumors/rhabdoidID5037.html |
Translocations implicated (Data extracted from papers in the Atlas) |
del(22)(q11) | |
External links |
REVIEW articles | automatic search in PubMed |
Last year articles | automatic search in PubMed |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Thu Feb 14 17:42:43 CET 2019 |
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