NUT Carcinoma in a Patient with Unusually Long Survival and False Negative FISH Results
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CASE REPORTS
NUT Carcinoma in a Patient with Unusually Long Survival and False Negative FISH Results Anne C. McLean‑Holden1 · Samantha A. Moore1 · Jeffrey Gagan1 · Christopher A. French2 · David Sher3 · John M. Truelson4 · Justin A. Bishop1,5 Received: 31 July 2020 / Accepted: 31 August 2020 © Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract 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. Keywords NUT carcinoma · NUT midline carcinoma · Long-term survival · BRD4-NUTM1 · Fluorescence in situ hybridization
Introduction
Anne C. McLean-Holden and Samantha A. Moore have contributed equally to this work. * Justin A. Bishop [email protected] 1
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA
2
Department of Pathology, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA
3
Department of Radiation Oncology, University of Texas Southwestern Medical Center, Dallas, TX, USA
4
Department of Surgery, University of Texas Southwestern Medical Center, Dallas, TX, USA
5
UT Southwestern Medical Center, Clements University Hospital, UH04.250 6201 Harry Hines Blvd, Dallas, TX 75390, USA
An uncommon and aggressive tumor, nuclear protein in testis (NUT) carcinoma originates primarily in the thoracic and head and neck regions and is defined by translocation of the NUTM1 gene on chromosome 15 [1]. Typically affecting young adult and pediatric populations, and with a predilection for arising in midline structures, it is a malignant small round cell neoplasm with frequent focal squamous differentiation. Because of its poor response to radiation and standard c
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