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Malignant rhabdoid tumor of the kidney: involvement of chromosome 22.

Publication ,  Journal Article
Shashi, V; Lovell, MA; von Kap-herr, C; Waldron, P; Golden, WL
Published in: Genes Chromosomes Cancer
May 1994

Cytogenetic and molecular studies have demonstrated that involvement of 22q is a non-random finding in malignant rhabdoid tumors (MRTs) of the brain. We present an MRT of the kidney with the karyotype 47,XY, + i(1)(q10), der(8)t(8;22)(q12;q11.2),der(22)t(8;22)(q23 or q24.1;q11.2). This unbalanced reciprocal translocation was confirmed by fluorescence in situ hybridization (FISH) with chromosome-specific paints for chromosomes 8 and 22. Molecular analysis demonstrated a partial deletion of 22q in the BCR region at q11.2, strengthening the suspicion that this is a critical region for the initiation or progression of these highly malignant neoplasms. Establishing non-random cytogenetic changes in MRTs arising from the kidney may be of value in distinguishing these rare, but often fatal tumors from other renal neoplasms that mimic them histologically. The similarity in cytogenetic and molecular abnormalities between renal and extra-renal MRTs argues against the concept that extra-renal MRTs are only representative of a rhabdoid phenotype, rather than being true rhabdoid tumors.

Duke Scholars

Published In

Genes Chromosomes Cancer

DOI

ISSN

1045-2257

Publication Date

May 1994

Volume

10

Issue

1

Start / End Page

49 / 54

Location

United States

Related Subject Headings

  • Translocation, Genetic
  • Rhabdoid Tumor
  • Oncology & Carcinogenesis
  • Male
  • Kidney Neoplasms
  • Karyotyping
  • In Situ Hybridization, Fluorescence
  • Humans
  • Chromosomes, Human, Pair 8
  • Chromosomes, Human, Pair 22
 

Citation

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Shashi, V., Lovell, M. A., von Kap-herr, C., Waldron, P., & Golden, W. L. (1994). Malignant rhabdoid tumor of the kidney: involvement of chromosome 22. Genes Chromosomes Cancer, 10(1), 49–54. https://doi.org/10.1002/gcc.2870100108
Shashi, V., M. A. Lovell, C. von Kap-herr, P. Waldron, and W. L. Golden. “Malignant rhabdoid tumor of the kidney: involvement of chromosome 22.Genes Chromosomes Cancer 10, no. 1 (May 1994): 49–54. https://doi.org/10.1002/gcc.2870100108.
Shashi V, Lovell MA, von Kap-herr C, Waldron P, Golden WL. Malignant rhabdoid tumor of the kidney: involvement of chromosome 22. Genes Chromosomes Cancer. 1994 May;10(1):49–54.
Shashi, V., et al. “Malignant rhabdoid tumor of the kidney: involvement of chromosome 22.Genes Chromosomes Cancer, vol. 10, no. 1, May 1994, pp. 49–54. Pubmed, doi:10.1002/gcc.2870100108.
Shashi V, Lovell MA, von Kap-herr C, Waldron P, Golden WL. Malignant rhabdoid tumor of the kidney: involvement of chromosome 22. Genes Chromosomes Cancer. 1994 May;10(1):49–54.
Journal cover image

Published In

Genes Chromosomes Cancer

DOI

ISSN

1045-2257

Publication Date

May 1994

Volume

10

Issue

1

Start / End Page

49 / 54

Location

United States

Related Subject Headings

  • Translocation, Genetic
  • Rhabdoid Tumor
  • Oncology & Carcinogenesis
  • Male
  • Kidney Neoplasms
  • Karyotyping
  • In Situ Hybridization, Fluorescence
  • Humans
  • Chromosomes, Human, Pair 8
  • Chromosomes, Human, Pair 22