PMID- 25466466 OWN - NLM STAT- MEDLINE DCOM- 20160119 LR - 20211203 IS - 1618-0631 (Electronic) IS - 0344-0338 (Linking) VI - 211 IP - 5 DP - 2015 May TI - NSD3-NUT-expressing midline carcinoma of the lung: first characterization of primary cancer tissue. PG - 404-8 LID - S0344-0338(14)00311-2 [pii] LID - 10.1016/j.prp.2014.10.013 [doi] AB - BACKGROUND: Nuclear protein in testis (NUT) midline carcinoma (NMC) is a rare, aggressive malignancy. Only two pediatric and three adult cases of pulmonary NMCs have been documented. In more than two-thirds of NMC cases, a gene fusion between NUT and BRD4 or BRD3 has been documented; other fusions are rare. CASE PRESENTATION: A 36-year-old woman was admitted because of a rapidly progressing tumor of the lung with metastases to the breast and bone. A biopsy from the lung tumor revealed an undifferentiated neoplasm exhibiting round to oval nuclei with vesicular chromatin, prominent nucleoli, and scant cytoplasm. Immunohistochemical staining demonstrated focal EMA, cytokeratin AE1/AE3, cytokeratin CAM 5.2, p63, CD138, and vimentin positivity. Finally, the nuclear staining pattern for NUT confirmed a histopathological diagnosis of NMC. A 5'- rapid amplification of the cDNA end (RACE) procedure successfully identified the partner of the NUT translocation as NSD3, a recently discovered partner. Fluorescence in situ hybridization confirmed the NSD3-NUT gene rearrangement, whereas a BRD3/4-NUT fusion gene was not detected. CONCLUSION: We herein describe the first case of an NSD3-NUT-expressing NMC of the lung. The further accumulation of variant NMCs should provide clues to the establishment of new individualized therapy for NMCs. CI - Copyright (c) 2014 Elsevier GmbH. All rights reserved. FAU - Suzuki, Shioto AU - Suzuki S AD - Division of Pathology, Iwata City Hospital, Japan. Electronic address: shiosuzuki-path@umin.net. FAU - Kurabe, Nobuya AU - Kurabe N AD - Department of Tumor Pathology, Hamamatsu University School of Medicine, Japan. FAU - Ohnishi, Ippei AU - Ohnishi I AD - Division of Pathology, Iwata City Hospital, Japan. FAU - Yasuda, Kazumasa AU - Yasuda K AD - Division of Respiratory Medicine, Iwata City Hospital, Japan. FAU - Aoshima, Yoichiro AU - Aoshima Y AD - Division of Respiratory Medicine, Iwata City Hospital, Japan. FAU - Naito, Masaaki AU - Naito M AD - Division of Radiology, Iwata City Hospital, Japan. FAU - Tanioka, Fumihiko AU - Tanioka F AD - Division of Pathology, Iwata City Hospital, Japan. FAU - Sugimura, Haruhiko AU - Sugimura H AD - Department of Tumor Pathology, Hamamatsu University School of Medicine, Japan. LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20141113 PL - Germany TA - Pathol Res Pract JT - Pathology, research and practice JID - 7806109 RN - 0 (NUTM1 protein, human) RN - 0 (Neoplasm Proteins) RN - 0 (Nuclear Proteins) RN - 0 (Oncogene Proteins) RN - 0 (Oncogene Proteins, Fusion) RN - EC 2.1.1.43 (Histone-Lysine N-Methyltransferase) RN - EC 2.1.1.43 (NSD3 protein, human) SB - IM MH - Adult MH - Carcinoma/*genetics/pathology MH - Female MH - Histone-Lysine N-Methyltransferase/*genetics MH - Humans MH - In Situ Hybridization, Fluorescence MH - Lung Neoplasms/*genetics/pathology MH - Neoplasm Proteins MH - Nuclear Proteins/*genetics MH - Oncogene Proteins/*genetics MH - Oncogene Proteins, Fusion/*genetics OTO - NOTNLM OT - Lung OT - NSD3-NUT OT - NUT midline carcinoma OT - Nuclear receptor binding SET domain (NSD) protein EDAT- 2014/12/04 06:00 MHDA- 2016/01/20 06:00 CRDT- 2014/12/04 06:00 PHST- 2014/09/04 00:00 [received] PHST- 2014/10/29 00:00 [revised] PHST- 2014/10/29 00:00 [accepted] PHST- 2014/12/04 06:00 [entrez] PHST- 2014/12/04 06:00 [pubmed] PHST- 2016/01/20 06:00 [medline] AID - S0344-0338(14)00311-2 [pii] AID - 10.1016/j.prp.2014.10.013 [doi] PST - ppublish SO - Pathol Res Pract. 2015 May;211(5):404-8. doi: 10.1016/j.prp.2014.10.013. Epub 2014 Nov 13.