Primary ovarian rhabdomosarcoma

Qureshi, Asim; Hassan, Usman; Rehman, Rakshanda

doi:10.1136/bcr.01.2011.3677

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2018

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“…Ovarian sarcomas are rare mesenchymal tumors, and various histological types-such as carcinosarcoma, 1 leiomyosarcoma, 2 rhabdomyosarcoma, 3,4 endometrial stromal sarcoma 5 and fibrosarcoma 6 -are pathologically defined. Small round cell sarcoma is a heterogeneous group of tumors arising from various sites, and the prognosis of this disease is poor.…”

Section: Introductionmentioning

confidence: 99%

Novel MXD4–NUTM1 fusion transcript identified in primary ovarian undifferentiated small round cell sarcoma

Tamura

Nakaoka

Yoshihara

et al. 2018

Genes Chromosomes & Cancer

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Primary ovarian sarcomas are extremely rare tumors, and their genomic and transcriptomic alterations remain to be elucidated. We performed whole exome sequencing of primary tumor and matched normal blood samples derived from one patient with ovarian undifferentiated small round cell sarcoma. We identified 8 nonsynonymous somatic mutations, and all mutations were missense or nonsense changes. Next, we performed RNA sequencing of the tumor sample and identified two in‐frame fusion transcripts: MXD4–NUTM1 and ARL6–POT1. Most NUTM1 exons were retained in the MXD4–NUTM1 fusion transcript, and we confirmed an increase in NUTM1 mRNA and protein expression in tumor tissue. Further genomic and transcriptomic analyses might lead to the development of new therapeutic strategies based on the molecular characteristics of ovarian undifferentiated small round cell sarcoma.

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Section: Introductionmentioning

confidence: 99%