Cytogenetic Aberrations in Soft Tissue Tumors Harvested From Fresh Tissue Submitted for Surgical Pathology: A Single Institutional Experience

Abstract

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.

The clinical utility of conventional karyotyping in the detection of cytogenetic abnormalities in soft tissue tumours: an Asian institutional experience

“…3 Karyotyping has shown the main difference to be the presence of the (X;18) translocation. 3 Many previous studies [4][5][6] have also demonstrated the role of conventional karyotyping in the detection of clonal aberrations in 68% of malignant fibrous histiocytomas, and 38 to 48% of heterogeneous soft tissue sarcomas. Our study aimed to highlight the use of conventional karyotyping as a genome-wide screening tool, and also as an adjuvant diagnostic tool in the validation of histological diagnosis for soft tissue tumours.…”

“…These aberrations may be characterised by chromosomal gains or losses, balanced or unbalanced translocations, deletions or insertions, ring or marker chromosomes, or multiple complex karyotypes. 6 Sarcomas may be categorised into two major cytogenetic groups: (i) sarcomas with tumour-specific chromosomal alterations and simple karyotypes 2,10,11 or (ii) sarcomas with nonspecific chromosomal alterations and complex unbalanced karyotypes. 2 For group (i), karyotypes are considered to be tumour-specific or recurrent if the abnormality is found in two or more cases.…”

“…6 In our study, fresh tumour samples were collected in sterile bottles from the surgical theatre and transported immediately to the cytogenetics laboratory. Next, the tumour specimens were washed 3 times with media containing Hank's balanced salt solution, and 2% penicillin and streptomycin.…”

“…One study in our literature search demonstrated a normal karyotype in 42% of cases; the majority of these were soft tissue tumours with a fibrous component or grossly dense matrix. 6 The study rationalised that tumour cells embedded in a dense matrix were more difficult to culture. 6 The two culture failure cases could have been due to specimen contamination or insufficient sample.…”

“…6 The study rationalised that tumour cells embedded in a dense matrix were more difficult to culture. 6 The two culture failure cases could have been due to specimen contamination or insufficient sample. A study conducted in a single institution in the United States (n=48) had documented an abnormal karyotype detection rate of 48% and a 10% culture failure rate in patients with soft tissue tumours.…”