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Unique presentation of a gastrointestinal stromal tumor, epithelioid type, with a dual copy loss of SDHA gene as a liver primary

Publication ,  Journal Article
Smith, VL; Bentley, RC; Morse, MA; Pendse, AA
Published in: Human Pathology: Case Reports
November 1, 2020

Primary gastrointestinal stromal tumors (GIST) largely occur in the luminal gastro-intestinal tract and are extremely rare in the liver. On a molecular level, a small minority of GISTs are characterized by SDH deficiency. To date, SDH-deficient GISTs have been exclusively reported in the stomach, except a single duodenal primary. Here, we report a first of its kind occurrence of a SDH-deficient GIST presenting as a liver primary. The neoplastic cells showed an epithelioid morphology and were positive for vimentin, CD117/c-kit, DOG-1, and CD34 by immunohistochemistry. SDH-B immunohistochemistry was negative in the tumor cells, and retained in the background tissue. A dual-copy loss of SDHA gene was identified via multiplexed PCR and sequencing. Our case provides additional confirmation that SDH -deficient GIST can arise in locations other than stomach. Awareness of this entity is crucial for diagnosis and timely management and due to the potential health implications for family members in cases harboring a germline SDH mutation.

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Published In

Human Pathology: Case Reports

DOI

EISSN

2214-3300

Publication Date

November 1, 2020

Volume

22
 

Citation

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Smith, V. L., Bentley, R. C., Morse, M. A., & Pendse, A. A. (2020). Unique presentation of a gastrointestinal stromal tumor, epithelioid type, with a dual copy loss of SDHA gene as a liver primary. Human Pathology: Case Reports, 22. https://doi.org/10.1016/j.ehpc.2020.200427
Smith, V. L., R. C. Bentley, M. A. Morse, and A. A. Pendse. “Unique presentation of a gastrointestinal stromal tumor, epithelioid type, with a dual copy loss of SDHA gene as a liver primary.” Human Pathology: Case Reports 22 (November 1, 2020). https://doi.org/10.1016/j.ehpc.2020.200427.
Smith VL, Bentley RC, Morse MA, Pendse AA. Unique presentation of a gastrointestinal stromal tumor, epithelioid type, with a dual copy loss of SDHA gene as a liver primary. Human Pathology: Case Reports. 2020 Nov 1;22.
Smith, V. L., et al. “Unique presentation of a gastrointestinal stromal tumor, epithelioid type, with a dual copy loss of SDHA gene as a liver primary.” Human Pathology: Case Reports, vol. 22, Nov. 2020. Scopus, doi:10.1016/j.ehpc.2020.200427.
Smith VL, Bentley RC, Morse MA, Pendse AA. Unique presentation of a gastrointestinal stromal tumor, epithelioid type, with a dual copy loss of SDHA gene as a liver primary. Human Pathology: Case Reports. 2020 Nov 1;22.
Journal cover image

Published In

Human Pathology: Case Reports

DOI

EISSN

2214-3300

Publication Date

November 1, 2020

Volume

22