Primary renal NUT carcinoma identified by next-generation sequencing: a case report and literature review

xlomafota13 shared this article with you from Inoreader Primary renal NUT carcinoma identified by next-generation sequencing: a case report and literature review Via International Journal of Clinical and Experimental Pathology Int J Clin Exp Pathol. 2021 May 15;14(5):662-669. eCollection 2021. ABSTRACT BACKGROUND: NUT carcinoma is a rare aggressive squamous cell carcinoma subtype genetically characterized by NUTM1 rearrangements. NUT carcinoma can be easily misdiagnosed as an undifferentiated carcinoma or Ewing sarcoma due to its primitive differentiation. CASE PRESENTATION: We report a case of renal-derived NUT carcinoma diagnosed as a malignant small round-cell tumor resembling Ewing sarcoma/primitive neuroectodermal tumor where the diagnosis was revised to NUT carcinoma with a characteristic NUTM1 rearrangement based on next-generation sequencing (NGS). The patient received a standard NUT carcinoma treatment after recurrence but died of first-line chemotherapy failure due to advanced neoplasm progression. CONCLUSION: Routine NUT immunohistochemistry staining, NGS, and/or fluorescent in situ hybridization for poorly differentiated carcinoma and sarcoma can help avoid misdiagnosis of NUT carcinoma-related tumors, allowing patients to benefit from bromodomain and extra-terminal motif inhibitor therapy. PMID:34093952 | PMC:PMC8167490 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.