Diagnostic considerations for gastrointestinal stromal tumors with altered immunophenotype following Imatinib treatment: A case report and literature review
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors in the gastrointestinal tract and have a high rate of recurrence and metastasis. Using an immunohistochemical (IHC) panel including KIT/CD117 and DOG1 allows for accurate diagnosis in more than 98% of cases. However, afte...
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| Language: | English |
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Elsevier
2025-06-01
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| Series: | Human Pathology Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2772736X25000088 |
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| author | Jihuan Chen Liz M. Yang Jonathan Somma Yujun Gan Zengying Wu Zhiyan Fu |
| author_facet | Jihuan Chen Liz M. Yang Jonathan Somma Yujun Gan Zengying Wu Zhiyan Fu |
| author_sort | Jihuan Chen |
| collection | DOAJ |
| description | Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors in the gastrointestinal tract and have a high rate of recurrence and metastasis. Using an immunohistochemical (IHC) panel including KIT/CD117 and DOG1 allows for accurate diagnosis in more than 98% of cases. However, after tyrosine kinase inhibitor treatment, some cases can exhibit histologic dedifferentiation and loss of KIT/CD117 and DOG1 expression that may cause difficulty in confirming recurrent or persistent disease. We present such a case of an Imatinib treated, CD117 and DOG1 dual negative, metastatic GIST to the liver in a 55-year-old female which required molecular analysis to confirm the diagnosis. Awareness and recognition of this phenomenon is crucial for the accurate diagnosis and management of patients with GISTs. |
| format | Article |
| id | doaj-art-542f4a2ec32a4793aa67140e3adc49e4 |
| institution | OA Journals |
| issn | 2772-736X |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Human Pathology Reports |
| spelling | doaj-art-542f4a2ec32a4793aa67140e3adc49e42025-08-20T02:05:10ZengElsevierHuman Pathology Reports2772-736X2025-06-014030077610.1016/j.hpr.2025.300776Diagnostic considerations for gastrointestinal stromal tumors with altered immunophenotype following Imatinib treatment: A case report and literature reviewJihuan Chen0Liz M. Yang1Jonathan Somma2Yujun Gan3Zengying Wu4Zhiyan Fu5Department of Pathology, Louisiana State University Health Sciences Center, New Orleans, LA 70112, United StatesDepartment of Pathology, Louisiana State University Health Sciences Center, New Orleans, LA 70112, United StatesDepartment of Pathology, Louisiana State University Health Sciences Center, New Orleans, LA 70112, United StatesDepartment of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03755, United StatesClinical Volunteer Service, University Medical Center, New Orleans, LA 70112, United StatesDepartment of Pathology, Louisiana State University Health Sciences Center, New Orleans, LA 70112, United States; Corresponding author at: Department of Pathology, LSUHSC School of Medicine, New Orleans, LA 70112, United States.Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors in the gastrointestinal tract and have a high rate of recurrence and metastasis. Using an immunohistochemical (IHC) panel including KIT/CD117 and DOG1 allows for accurate diagnosis in more than 98% of cases. However, after tyrosine kinase inhibitor treatment, some cases can exhibit histologic dedifferentiation and loss of KIT/CD117 and DOG1 expression that may cause difficulty in confirming recurrent or persistent disease. We present such a case of an Imatinib treated, CD117 and DOG1 dual negative, metastatic GIST to the liver in a 55-year-old female which required molecular analysis to confirm the diagnosis. Awareness and recognition of this phenomenon is crucial for the accurate diagnosis and management of patients with GISTs.http://www.sciencedirect.com/science/article/pii/S2772736X25000088Gastrointestinal stromal tumors (GISTs)CD117DOG1Imatinibc-KITImmunohistochemistry |
| spellingShingle | Jihuan Chen Liz M. Yang Jonathan Somma Yujun Gan Zengying Wu Zhiyan Fu Diagnostic considerations for gastrointestinal stromal tumors with altered immunophenotype following Imatinib treatment: A case report and literature review Human Pathology Reports Gastrointestinal stromal tumors (GISTs) CD117 DOG1 Imatinib c-KIT Immunohistochemistry |
| title | Diagnostic considerations for gastrointestinal stromal tumors with altered immunophenotype following Imatinib treatment: A case report and literature review |
| title_full | Diagnostic considerations for gastrointestinal stromal tumors with altered immunophenotype following Imatinib treatment: A case report and literature review |
| title_fullStr | Diagnostic considerations for gastrointestinal stromal tumors with altered immunophenotype following Imatinib treatment: A case report and literature review |
| title_full_unstemmed | Diagnostic considerations for gastrointestinal stromal tumors with altered immunophenotype following Imatinib treatment: A case report and literature review |
| title_short | Diagnostic considerations for gastrointestinal stromal tumors with altered immunophenotype following Imatinib treatment: A case report and literature review |
| title_sort | diagnostic considerations for gastrointestinal stromal tumors with altered immunophenotype following imatinib treatment a case report and literature review |
| topic | Gastrointestinal stromal tumors (GISTs) CD117 DOG1 Imatinib c-KIT Immunohistochemistry |
| url | http://www.sciencedirect.com/science/article/pii/S2772736X25000088 |
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