22 research outputs found
Soft tissue angiofibroma: Clinicopathologic, immunohistochemical and molecular analysis of 14 cases
Soft tissue angiofibroma is rare and has characteristic histomorphological and genetic features. For diagnostic purposes, there are no specific antibodies available. Fourteen lesions (6 females, 8 males; age range 7â67 years) of the lower extremities (12) and trunk (2) were investigated by immunohistochemistry, including for the first time NCOA2. NCOA2 was also tested in a control group of other spindle cell lesions. The known fusionâgenes (AHRRâNCOA2 and GTF2IâNCOA2) were examined using RTâPCR in order to evaluate their diagnostic value. Cases in which no fusion gene was detected were additionally analysed by RNA sequencing. All cases tested showed nuclear expression of NCOA2. However, this was not specific since other spindle cell neoplasms also expressed this marker in a high percentage of cases. Other variably positive markers were EMA, SMA, desmin and CD34. STAT6 was negative in the cases tested. By RTâPCR for the most frequently observed fusions, an AHRRâNCOA2 fusion transcript was found in 9/14 cases. GTF2IâNCOA2 was not detected in the remaining cases (nâ=â3). RNA sequencing revealed three additional positive cases; two harbored a AHRRâNCOA2 fusion and one case a novel GAB1âABL1 fusion. Two cases failed molecular analysis due to poor RNA quality. In conclusion, the AHRRâNCOA2 fusion is a frequent finding in soft tissue angiofibroma, while GTF2IâNCOA2 seems to be a rare genetic event. For the first time, we report a GAB1âABL1 fusion in a soft tissue angiofibroma of a child. Nuclear expression of NCOA2 is not discriminating when compared with other spindle cell neoplasms
Recurrent Fusions Between YAP1 and KMT2A in Morphologically Distinct Neoplasms Within the Spectrum of Low-grade Fibromyxoid Sarcoma and Sclerosing Epithelioid Fibrosarcoma
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Soft tissue angiofibroma: Clinicopathologic, immunohistochemical and molecular analysis of 14 cases
Molecular tumour pathology - and tumour geneticsMTG
Genomic and transcriptomic characterization of desmoplastic small round cell tumors
Desmoplastic small round cell tumor (DSRCT) is a highly aggressive soft tissue tumor primarily affecting children and young adults. Most cases display a pathognomonic EWSR1-WT1 gene fusion, presumably constituting the primary driver event. Little is, however, known about secondary genetic changes that may affect tumor progression. We here studied 25 samples from 19 DSRCT patients using single nucleotide polymorphism arrays and found that all samples had copy number alterations. The most common imbalances were gain of chromosomes/chromosome arms 1/1q and 5/5p and loss of 6/6q and 16/16q, all occurring in at least eight of the patients. Five cases showed homozygous deletions, affecting a variety of known tumor suppressor genes, for example, CDKN2A and NF1. As almost all patients died of their disease, the impact of individual imbalances on survival could not be evaluated. Global gene expression analysis using mRNA sequencing on fresh-frozen samples from seven patients revealed a distinct transcriptomic profile, with enrichment of genes involved in neural differentiation. Two genes - GJB2 and GAL - that showed higher expression in DSRCT compared to control tumors could be further investigated for their potential as diagnostic markers at the protein level