Abstract:
AIMS:NTRK gene rearranged sarcomas are emerging as a distinct class of sarcomas of particular importance in the era of targeted therapy. In this study we used Array Comparative Genomic Hybridisation (aCGH) to explore the cytogenetic profile of 6 adult soft tissue sarcomas harbouring NTRK gene fusions. METHODS AND RESULTS:aCGH was performed on 6 adult soft tissue sarcomas with proven NTRK gene rearrangements (NTRK1, n=1 (TPM3-NTRK1); NTRK2, n=1 (MTMR2-NTRK2); NTRK3, n=4 (ETV6-NTRK3 x 2; unknown partners x 2). The morphological patterns of these cases included inflammatory-myofibroblastic tumour (IMT)-like, fibrosarcoma/MPNST-like and Ewing sarcoma-like. Based on the number of chromosomal copy number variations (CNVs; ranging from 2 to 15 per sample), NTRK-associated sarcomas could be subdivided into two groups - one with a relatively simple genome (n=2; median 3 genomic alterations) and those with a more complex karyotype (n=4; median 11 genomic imbalances). Recurrent chromosomal CNVs included gains of chromosomes 6p, 1q, 7 (whole chromosome) and 12p; and loses at 10q, 13q, 19q and 9p. CONCLUSIONS:NTRK-rearranged sarcomas are a heterogeneous group of tumours, which can harbour a relatively simple or a complex karyotype. Although there were some, but inconsistent, associations between karyotype complexity and morphology, our study identified that more complex karyotype in this group of tumours appeared to correlate with a more aggressive clinical behaviour. Gains at chromosome 6p and 1q were the most common recurrent genomic alterations present in 67% of the samples (4 of 6) followed by gains in chromosome 7 presenting in 50% of samples (3/6).
journal_name
Histopathologyjournal_title
Histopathologyauthors
Vargas AC,Mesbah Ardakani N,Wong DD,Maclean FM,Kattampallil J,Boyle R,Santos L,Gill AJdoi
10.1111/his.14295subject
Has Abstractpub_date
2020-10-31 00:00:00eissn
0309-0167issn
1365-2559pub_type
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