Unique presentation of a gastrointestinal stromal tumor, epithelioid type, with a dual copy loss of SDHA gene as a liver primary
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, ex...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-11-01
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| Series: | Human Pathology: Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214330020300766 |
| _version_ | 1818380791426580480 |
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| author | Vanessa L. Smith Rex C. Bentley Michael A. Morse Avani A. Pendse |
| author_facet | Vanessa L. Smith Rex C. Bentley Michael A. Morse Avani A. Pendse |
| author_sort | Vanessa L. Smith |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-14T02:24:18Z |
| format | Article |
| id | doaj.art-110711fad8b3450e9673982177d1f790 |
| institution | Directory Open Access Journal |
| issn | 2214-3300 |
| language | English |
| last_indexed | 2024-12-14T02:24:18Z |
| publishDate | 2020-11-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Human Pathology: Case Reports |
| spelling | doaj.art-110711fad8b3450e9673982177d1f7902022-12-21T23:20:25ZengElsevierHuman Pathology: Case Reports2214-33002020-11-0122200427Unique presentation of a gastrointestinal stromal tumor, epithelioid type, with a dual copy loss of SDHA gene as a liver primaryVanessa L. Smith0Rex C. Bentley1Michael A. Morse2Avani A. Pendse3Department of Pathology, Duke University Medical Center, Duke Box 3712, Durham, NC 27710, USADepartment of Pathology, Duke University Medical Center, Duke Box 3712, Durham, NC 27710, USADepartment of Medicine, Duke University Medical Center, Duke Box 3233, Durham, NC 27710, USADepartment of Pathology, Duke University Medical Center, Duke Box 3712, Durham, NC 27710, USA; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S2214330020300766Gastro-intestinal stromal tumorSDH deficiencySDHA lossSDHB immunohistochemistry |
| spellingShingle | Vanessa L. Smith Rex C. Bentley Michael A. Morse Avani 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 Gastro-intestinal stromal tumor SDH deficiency SDHA loss SDHB immunohistochemistry |
| title | Unique presentation of a gastrointestinal stromal tumor, epithelioid type, with a dual copy loss of SDHA gene as a liver primary |
| title_full | Unique presentation of a gastrointestinal stromal tumor, epithelioid type, with a dual copy loss of SDHA gene as a liver primary |
| title_fullStr | Unique presentation of a gastrointestinal stromal tumor, epithelioid type, with a dual copy loss of SDHA gene as a liver primary |
| title_full_unstemmed | Unique presentation of a gastrointestinal stromal tumor, epithelioid type, with a dual copy loss of SDHA gene as a liver primary |
| title_short | Unique presentation of a gastrointestinal stromal tumor, epithelioid type, with a dual copy loss of SDHA gene as a liver primary |
| title_sort | unique presentation of a gastrointestinal stromal tumor epithelioid type with a dual copy loss of sdha gene as a liver primary |
| topic | Gastro-intestinal stromal tumor SDH deficiency SDHA loss SDHB immunohistochemistry |
| url | http://www.sciencedirect.com/science/article/pii/S2214330020300766 |
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