Cytogenetic aberrations in soft tissue tumors harvested from fresh tissue submitted for surgical pathology: a single...

Recurrent cytogenetic abnormalities have been reported in many types of soft tissue neoplasms, and the detection of these aberrations imparts diagnostic utility. The aim of this study is to demonstrate that classical karyotyping may be performed with minimal effort as an adjunct to surgical pathology on fresh tissue submitted for histopathological examination. To the authors' knowledge, there are no recently published reviews in the literature in English of cytogenetic abnormalities in soft tissue tumors from a single institution.

Conventional metaphase cytogenetics was performed in the authors' cytogenetics laboratory on fresh tissue from mesenchymal tumors from their surgical pathology laboratory over a period of 4 years. Cytogenetics reports, clinical history, and histopathology were reviewed for 48 soft tissue tumors. Recurrent cytogenetic abnormalities were identified using the Mitelman Database of Chromosome Aberrations in Cancer and a review of the literature.

The authors reviewed 48 cases of benign and malignant soft tissue tumors, which included 28 distinct morphologies. Cytogenetic abnormalities were observed in 23 (48%) cases, a normal chromosome profile was found in 20 (42%) cases, and 5 (10%) cases had no karyotype reported because of specimen contamination or inadequacy. Of the 23 cases with an aberrant karyotype, 15 (65%) tumors had cytogenetic abnormalities present in 2 or more cases in the literature.

Cytogenetic analysis demonstrated abnormal karyotypes in nearly half of this series of mesenchymal neoplasms, the majority of which consisted of recognized aberrations reported in the literature.