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 journalArticlepeer-review

25 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
Pages (from-to)1494-1498
Number of pages5
JournalArchives of Pathology and Laboratory Medicine
Volume135
Issue number11
DOIs
StatePublished - Nov 2011

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology

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