TY - JOUR
T1 - Nuclear protein in testis midline carcinomas
T2 - A lethal and underrecognized entity
AU - Davis, Brian N.
AU - Karabakhtsian, Rouzan G.
AU - Pettigrew, Anjana L.
AU - Arnold, Susanne M.
AU - French, Chris A.
AU - Brill, Yolanda Musgrave
PY - 2011/11
Y1 - 2011/11
N2 - 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.
AB - 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.
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U2 - 10.5858/arpa.2010-0389-CR
DO - 10.5858/arpa.2010-0389-CR
M3 - Article
C2 - 22032580
AN - SCOPUS:82555194509
SN - 0003-9985
VL - 135
SP - 1494
EP - 1498
JO - Archives of Pathology and Laboratory Medicine
JF - Archives of Pathology and Laboratory Medicine
IS - 11
ER -