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Familial Gastrointestinal Stromal Tumor Associated with Zebra-like Pigmentation
Purpose: According to clinical studies, gastrointestinal stromal tumors (GISTs) are predominantly sporadic. GISTs associated with familial syndromes are very rare, and most patients exhibit wild-type KIT and platelet-derived growth factor alpha (PDGFRA). To date, GISTs associated with germline KIT p...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10295313/ https://www.ncbi.nlm.nih.gov/pubmed/37371685 http://dx.doi.org/10.3390/biomedicines11061590 |
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author | Hayashi, Takuma Konishi, Ikuo |
author_facet | Hayashi, Takuma Konishi, Ikuo |
author_sort | Hayashi, Takuma |
collection | PubMed |
description | Purpose: According to clinical studies, gastrointestinal stromal tumors (GISTs) are predominantly sporadic. GISTs associated with familial syndromes are very rare, and most patients exhibit wild-type KIT and platelet-derived growth factor alpha (PDGFRA). To date, GISTs associated with germline KIT pathogenic variants have been observed in only 30 kindreds worldwide. The efficacy of imatinib, a multityrosine kinase inhibitor, in patients with GIST presenting germline KIT variants has been poorly reported, and the efficacy in clinical trials of treatments with tyrosine kinase inhibitors remains unclear. Therefore, imatinib is not yet recommended for treating GIST patients with germline KIT variants. Experimental Design: We performed cancer genomic testing on samples from a 32-year-old male patient with advanced GISTs throughout the upper stomach and cutaneous hyperpigmentation to determine diagnosis and treatment strategies. Results: We detected a germline W557R pathogenic variant of KIT. The patient was diagnosed with familial multinodular GIST based on the clinical findings and familial history of malignant tumors. Treatment with imatinib resulted in long-term regression of GISTs. Conclusions: Pathogenic variants detected by cancer genome testing can be used to diagnose malignant tumors and select new therapeutic agents for patients with advanced malignancies. |
format | Online Article Text |
id | pubmed-10295313 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-102953132023-06-28 Familial Gastrointestinal Stromal Tumor Associated with Zebra-like Pigmentation Hayashi, Takuma Konishi, Ikuo Biomedicines Case Report Purpose: According to clinical studies, gastrointestinal stromal tumors (GISTs) are predominantly sporadic. GISTs associated with familial syndromes are very rare, and most patients exhibit wild-type KIT and platelet-derived growth factor alpha (PDGFRA). To date, GISTs associated with germline KIT pathogenic variants have been observed in only 30 kindreds worldwide. The efficacy of imatinib, a multityrosine kinase inhibitor, in patients with GIST presenting germline KIT variants has been poorly reported, and the efficacy in clinical trials of treatments with tyrosine kinase inhibitors remains unclear. Therefore, imatinib is not yet recommended for treating GIST patients with germline KIT variants. Experimental Design: We performed cancer genomic testing on samples from a 32-year-old male patient with advanced GISTs throughout the upper stomach and cutaneous hyperpigmentation to determine diagnosis and treatment strategies. Results: We detected a germline W557R pathogenic variant of KIT. The patient was diagnosed with familial multinodular GIST based on the clinical findings and familial history of malignant tumors. Treatment with imatinib resulted in long-term regression of GISTs. Conclusions: Pathogenic variants detected by cancer genome testing can be used to diagnose malignant tumors and select new therapeutic agents for patients with advanced malignancies. MDPI 2023-05-30 /pmc/articles/PMC10295313/ /pubmed/37371685 http://dx.doi.org/10.3390/biomedicines11061590 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Hayashi, Takuma Konishi, Ikuo Familial Gastrointestinal Stromal Tumor Associated with Zebra-like Pigmentation |
title | Familial Gastrointestinal Stromal Tumor Associated with Zebra-like Pigmentation |
title_full | Familial Gastrointestinal Stromal Tumor Associated with Zebra-like Pigmentation |
title_fullStr | Familial Gastrointestinal Stromal Tumor Associated with Zebra-like Pigmentation |
title_full_unstemmed | Familial Gastrointestinal Stromal Tumor Associated with Zebra-like Pigmentation |
title_short | Familial Gastrointestinal Stromal Tumor Associated with Zebra-like Pigmentation |
title_sort | familial gastrointestinal stromal tumor associated with zebra-like pigmentation |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10295313/ https://www.ncbi.nlm.nih.gov/pubmed/37371685 http://dx.doi.org/10.3390/biomedicines11061590 |
work_keys_str_mv | AT hayashitakuma familialgastrointestinalstromaltumorassociatedwithzebralikepigmentation AT konishiikuo familialgastrointestinalstromaltumorassociatedwithzebralikepigmentation |