Familial Gastrointestinal Stromal Tumor Associated with Zebra-like Pigmentation

Article Gastroenterology & Hepatology

Hereditary Diffuse Gastric Cancer

Lyvianne Decourtye-Espiard et al.

Summary: Hereditary diffuse gastric cancer (HDGC) is a dominantly inherited cancer syndrome characterized by a high incidence of diffuse gastric cancer (DGC) and lobular breast cancer (LBC). It is caused by germline mutations in the CDH1 and CTNNA1 genes. This article discusses the genetics, clinical phenotype, pathology, tumor initiation mechanism, natural history, and clinical management of HDGC.

GASTROENTEROLOGY (2023)

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Review Oncology

Unusual breast metastasis of gastrointestinal stromal tumor: A case report and literature review

Daria Filonenko et al.

Summary: This report presents a case of breast metastasis from rectum GIST, which is extremely rare. The patient underwent surgery and drug treatment with stable disease. Surgery was performed to remove the breast lesion which had increased in size, while the liver metastases remained stable. The patient resumed drug treatment after surgery.

WORLD JOURNAL OF CLINICAL ONCOLOGY (2023)

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Article Oncology

Circulating tumor DNA analysis of the phase III VOYAGER trial: KIT mutational landscape and outcomes in patients with advanced gastrointestinal stromal tumor treated with avapritinib or regorafenib

C. Serrano et al.

Summary: This study used ctDNA sequencing to analyze the impact of KIT/PDGFRA gene mutations on TKI resistance and evaluate its clinical validity and utility. The results showed that ctDNA sequencing can efficiently detect KIT/PDGFRA mutations and predict the treatment response of GIST patients to avapritinib.

ANNALS OF ONCOLOGY (2023)

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Article Oncology

KIT-Associated Familial GIST Syndrome: Response to Tyrosine Kinase Inhibitors and Implications for Risk Management

Alexandra Brodey et al.

Summary: This article reports on the management of familial gastrointestinal stromal tumors (GIST) and emphasizes the importance of molecular testing and genetic screening in asymptomatic or young patients. There are various challenges in managing these patients, including determining the timing for starting treatment, selecting the appropriate tyrosine kinase inhibitor, and planning for surveillance. The long-term benefits of early diagnosis and prophylactic treatment with tyrosine kinase inhibitors are still unknown.

ONCOLOGIST (2022)

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Review Oncology

The management of metastatic GIST: current standard and investigational therapeutics

Ciara M. Kelly et al.

Summary: GIST is the most common mesenchymal tumor of the gastrointestinal tract, with KIT or PDGFR alpha mutations playing a key role in its development. Imatinib has revolutionized the management of GIST as first line treatment, but patients often experience disease progression after a few years of therapy. New treatment options are being explored for imatinib-refractory GIST.

JOURNAL OF HEMATOLOGY & ONCOLOGY (2021)

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Review Oncology

Gastrointestinal stromal tumor: a review of current and emerging therapies

Bayan Al-Share et al.

Summary: GIST is a rare tumor originating from the interstitial cells of Cajal in the gastrointestinal tract, with surgery being the only curative treatment for localized disease. Targeted therapies like imatinib have shown improved survival rates in patients. FDA-approved new tyrosine kinase inhibitors, avapritinib and ripretinib, provide options for heavily pretreated advanced GIST. Future shifts in therapy paradigms are likely to occur in the treatment of GIST.

CANCER AND METASTASIS REVIEWS (2021)

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Review Multidisciplinary Sciences