Solid variant of alveolar rhabdomyosarcoma with unbalanced t(2;13) and hypotetraploidy, without MYCN amplification

A Smith; P Sharma; J Tomlinson; L Robson; A Goldrick

Solid variant of alveolar rhabdomyosarcoma with unbalanced t(2;13) and hypotetraploidy, without MYCN amplification

Pathology. 2001 Feb;33(1):108-11.

Authors

A Smith¹, P Sharma, J Tomlinson, L Robson, A Goldrick

Affiliation

¹ Department of Cytogenetics, Royal Alexandra Hospital for Children, Westmead, NSW, Australia.

PMID: 11280599

Abstract

The histological subtype of alveolar rhabdomyosarcoma (AR) is characterised by the cytogenetic translocation t(2;13)(q35;q14) in approximately 70% of cases, a rearrangement rarely present in the embryonal rhabdomyosarcoma (ER) subtype. The MYCN gene is amplified in some cases of AR. We present a young man with an unusual pattern, namely solid variant of AR with hypotetraploidy and the t(2;13) in an unbalanced form. The MYCN gene was not amplified on FISH, but showed increased copy number, consistent with ploidy.

Publication types

Case Reports

MeSH terms

Adult
Aneuploidy*
Cells, Cultured
Chromosomes, Human, Pair 13*
Chromosomes, Human, Pair 2*
Combined Modality Therapy
DNA, Neoplasm / analysis
Desmin / analysis
Fatal Outcome
Gene Amplification
Genes, myc*
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Muscle Neoplasms / chemistry
Muscle Neoplasms / genetics*
Muscle Neoplasms / pathology
Muscle Neoplasms / therapy
Rhabdomyosarcoma, Alveolar / chemistry
Rhabdomyosarcoma, Alveolar / genetics*
Rhabdomyosarcoma, Alveolar / secondary
Rhabdomyosarcoma, Alveolar / therapy
Spinal Cord Neoplasms / secondary
Translocation, Genetic
Vimentin / analysis

Substances

DNA, Neoplasm
Desmin
Vimentin