PMID- 32918711
OWN - NLM
STAT- MEDLINE
DCOM- 20211206
LR  - 20211214
IS  - 1936-0568 (Electronic)
IS  - 1936-055X (Print)
IS  - 1936-055X (Linking)
VI  - 15
IP  - 2
DP  - 2021 Jun
TI  - NUT Carcinoma in a Patient with Unusually Long Survival and False Negative FISH 
      Results.
PG  - 698-703
LID - 10.1007/s12105-020-01220-5 [doi]
AB  - Nuclear protein in testis (NUT) carcinoma is a rare and highly aggressive 
      epithelial malignancy defined by rearrangement of the NUTM1 gene on chromosome 
      15q14. Histologically, NUT carcinoma is an undifferentiated carcinoma formed by 
      sheets and nests of primitive and monotonous "round blue cells" with foci of 
      abrupt keratinization in a subset. NUT carcinoma runs a fulminant clinical course 
      and is almost always quickly lethal, with a median overall survival of only 6.7 
      months. There is no consensus regarding treatment for this disease, and most 
      patients respond poorly to conventional chemotherapy and radiation. We report a 
      case of NUT carcinoma in an African-American man who initially presented in 2009 
      with a tracheal mass at age 28. Although fluorescence in situ hybridization 
      (FISH) assays for NUTM1 and BRD4 rearrangements were negative, he was diagnosed 
      based on diffusely positive NUT immunostaining and BRD4-NUTM1 on RNA sequencing. 
      Since his initial presentation, he has undergone multiple surgical procedures and 
      radiation therapy. His tumor has recurred twice, but he has survived for 129 
      months and is currently alive without disease. Long-term survival of patients 
      with NUT carcinoma is incredibly unusual, especially in patients with tumors that 
      exhibit a BRD4 rearrangement. False negative FISH is a pitfall in diagnosing NUT 
      carcinoma; NUT immunostaining and RNA sequencing are more sensitive diagnostic 
      methods.
FAU - McLean-Holden, Anne C
AU  - McLean-Holden AC
AD  - Department of Pathology, University of Texas Southwestern Medical Center, Dallas, 
      TX, USA.
FAU - Moore, Samantha A
AU  - Moore SA
AD  - Department of Pathology, University of Texas Southwestern Medical Center, Dallas, 
      TX, USA.
FAU - Gagan, Jeffrey
AU  - Gagan J
AD  - Department of Pathology, University of Texas Southwestern Medical Center, Dallas, 
      TX, USA.
FAU - French, Christopher A
AU  - French CA
AD  - Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, 
      Boston, MA, USA.
FAU - Sher, David
AU  - Sher D
AD  - Department of Radiation Oncology, University of Texas Southwestern Medical 
      Center, Dallas, TX, USA.
FAU - Truelson, John M
AU  - Truelson JM
AD  - Department of Surgery, University of Texas Southwestern Medical Center, Dallas, 
      TX, USA.
FAU - Bishop, Justin A
AU  - Bishop JA
AUID- ORCID: 0000-0002-9743-4360
AD  - Department of Pathology, University of Texas Southwestern Medical Center, Dallas, 
      TX, USA. Justin.Bishop@UTSouthwestern.edu.
AD  - UT Southwestern Medical Center, Clements University Hospital, UH04.250 6201 Harry 
      Hines Blvd, Dallas, TX, 75390, USA. Justin.Bishop@UTSouthwestern.edu.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20200912
PL  - United States
TA  - Head Neck Pathol
JT  - Head and neck pathology
JID - 101304010
RN  - 0 (BRD4-NUT fusion oncogene protein, human)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Oncogene Proteins, Fusion)
SB  - IM
MH  - Adult
MH  - Carcinoma/*diagnosis/genetics/*pathology
MH  - False Negative Reactions
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Nuclear Proteins/analysis/*genetics
MH  - Oncogene Proteins, Fusion/analysis/*genetics
MH  - Tracheal Neoplasms/*diagnosis/genetics/*pathology
PMC - PMC8134642
OTO - NOTNLM
OT  - BRD4-NUTM1
OT  - Fluorescence in situ hybridization
OT  - Long-term survival
OT  - NUT carcinoma
OT  - NUT midline carcinoma
COIS- The authors declare that they have no conflicts of interest to disclose.
EDAT- 2020/09/13 06:00
MHDA- 2021/12/15 06:00
PMCR- 2021/09/12
CRDT- 2020/09/12 12:06
PHST- 2020/07/31 00:00 [received]
PHST- 2020/08/31 00:00 [accepted]
PHST- 2020/09/13 06:00 [pubmed]
PHST- 2021/12/15 06:00 [medline]
PHST- 2020/09/12 12:06 [entrez]
PHST- 2021/09/12 00:00 [pmc-release]
AID - 10.1007/s12105-020-01220-5 [pii]
AID - 1220 [pii]
AID - 10.1007/s12105-020-01220-5 [doi]
PST - ppublish
SO  - Head Neck Pathol. 2021 Jun;15(2):698-703. doi: 10.1007/s12105-020-01220-5. Epub 
      2020 Sep 12.