Nuclear protein in testis midline carcinomas: A lethal and underrecognized entity

Brian N. Davis, Rouzan G. Karabakhtsian, Anjana L. Pettigrew, Susanne M. Arnold, Chris A. French, Yolanda Musgrave Brill

Research output: Contribution to journalArticle

14 Scopus citations

Abstract

A 54-year-old woman presented with a nasal mass. Biopsy demonstrated undifferentiated tumor cells with extensive apoptosis and necrosis. Chromosome analysis identified a 46,XX,t(15;19)(q13;p13.1) pattern. Nuclear protein in testis (NUT) immunohistochemistry and fluorescence in situ hybridization confirmed NUT rearrangement. A Ewing sarcoma-based chemotherapy regimen and concurrent irradiation obtained a dramatic response; however, the patient died of her disease less than 7 months after initial diagnosis. NUT midline carcinomas are rare, aggressive tumors defined by rearrangement of the NUT gene on 15q14. A solitary translocation involving 15q14 is usually the sole chromosomal abnormality in these carcinomas. Immunohistochemical expression of NUT in the nuclei of non-germ cell tumors is theoretically diagnostic. More widespread use of a newly available NUT immunohistochemical stain will facilitate the diagnosis of NUT rearranged carcinomas. From the growing numbers of identified cases, effective targeted therapies can be developed.

Original languageEnglish (US)
Pages (from-to)1494-1498
Number of pages5
JournalArchives of Pathology and Laboratory Medicine
Volume135
Issue number11
DOIs
StatePublished - Nov 1 2011
Externally publishedYes

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology

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