☆ 4.7 Review

Diagnosis, Treatment, and Prognosis of Patients with Primary Familial Gastrointestinal Stromal Tumor: A Case Report and Literature Review

ONCOLOGIST (2023)

相关参考文献

注意：仅列出部分参考文献，下载原文获取全部文献信息。

Review Biochemistry & Molecular Biology

Chinese Pedigree with Hereditary Gastrointestinal Stromal Tumors: A Case Report and Literature Review

Qichao Ge et al.

Summary: This study reported a case of familial GISTs with a novel germline mutation within exon 18 of KIT. Whole-exome sequencing and Sanger sequencing identified a primary driver mutation that could lead to cell proliferation and imatinib resistance. Cell models were established to explore potential mechanisms and ripretinib was identified as an applicable targeted therapy.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)

添加到收藏夹

Article Medicine, General & Internal

Familial gastrointestinal stromal tumors with KIT germline mutation in a Chinese family: A case report

Wei Yuan et al.

Summary: In this study, two patients (father and daughter) in a Chinese family with germline KIT mutation were reported for the first time. Their pathology, genetics and clinical manifestations were described. The patients showed multiple tumors in the small intestine and pigmented spots on the skin. Imatinib therapy showed long-lasting disease stability and hypopigmentation of the skin could also be observed. However, the daughter of the female patient did not have the germline KIT mutation.

WORLD JOURNAL OF CLINICAL CASES (2022)

添加到收藏夹

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)

添加到收藏夹

Article Medicine, General & Internal

Gastrointestinal stromal tumours

Jean-Yves Blay et al.

Summary: Gastrointestinal stromal tumours (GIST) are rare malignancies with 80% of cases having KIT or PDGFRA activating mutations. Localized GIST can be cured through surgery, while advanced resistant GIST with resistance mutations require treatment with new drugs.

NATURE REVIEWS DISEASE PRIMERS (2021)

添加到收藏夹

Review Health Care Sciences & Services

Gastrointestinal Stromal Tumors-A Mini Review

Gina Gheorghe et al.

Summary: GISTs are the most common mesenchymal neoplasms of the gastrointestinal tract, originating from interstitial cells of Cajal. They are often found in the stomach and small intestine, characterized by gene mutations, and treated with surgery, endoscopic treatment, and chemotherapy.

JOURNAL OF PERSONALIZED MEDICINE (2021)

添加到收藏夹

Letter Dermatology

Generalized lentigines associated with familial gastrointestinal stromal tumors dramatically improved by imatinib treatment

Michiko Hasegawa et al.

JOURNAL OF DERMATOLOGY (2020)

添加到收藏夹

Article Health Care Sciences & Services

A Novel Kindred with Familial Gastrointestinal Stromal Tumors Caused by a Rare KIT Germline Mutation (N655K): Clinico-Pathological Presentation and TKI Sensitivity

Mara Fornasarig et al.

JOURNAL OF PERSONALIZED MEDICINE (2020)

添加到收藏夹

Article Multidisciplinary Sciences

Imatinib treatments have long-term impact on placentation and embryo survival

Wael Salem et al.

SCIENTIFIC REPORTS (2019)

添加到收藏夹

Review Oncology

Classification of gastrointestinal stromal tumor syndromes

Priya Gopie et al.

ENDOCRINE-RELATED CANCER (2018)

添加到收藏夹

Article Oncology

Remarkable effects of imatinib in a family with young onset gastrointestinal stromal tumors and cutaneous hyperpigmentation associated with a germline KIT-Trp557Arg mutation: case report and literature overview

S. Farag et al.

FAMILIAL CANCER (2018)

添加到收藏夹

Review Oncology

Gastrointestinal Stromal Tumors: The GIST of Precision Medicine

Lin Mei et al.

TRENDS IN CANCER (2018)

添加到收藏夹

Review Oncology

Syndromic gastrointestinal stromal tumors

Riccardo Ricci

HEREDITARY CANCER IN CLINICAL PRACTICE (2016)

添加到收藏夹

Article Oncology

Diagnosis, prognosis and treatment of patients with gastrointestinal stromal tumour (GIST) and germline mutation of KIT exon 13

Jean-Baptiste Bachet et al.

EUROPEAN JOURNAL OF CANCER (2013)

添加到收藏夹

Review Gastroenterology & Hepatology

Optimizing Surgical and Imatinib Therapy for the Treatment of Gastrointestinal Stromal Tumors

Jason K. Sicklick et al.

JOURNAL OF GASTROINTESTINAL SURGERY (2013)

添加到收藏夹

Article Medicine, General & Internal

Gastrointestinal stromal tumour

Heikki Joensuu et al.

LANCET (2013)

添加到收藏夹

Article

Disappearance of Lentigines in a Patient Receiving Imatinib Treatment for Familial Gastrointestinal Stromal Tumor Syndrome

Tracy Campbell et al.

ARCHIVES OF DERMATOLOGY (2009)

添加到收藏夹

Review Medicine, General & Internal

Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome - A systematic review

Noralane M. Lindor et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2006)

添加到收藏夹

Article Oncology

PDGFRA mutations in gastrointestinal stromal tumors: Frequency, spectrum and in vitro sensitivity to imatinib

CL Corless et al.

JOURNAL OF CLINICAL ONCOLOGY (2005)

添加到收藏夹

Article Genetics & Heredity

Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation

M Carballo et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)

添加到收藏夹

Article Oncology

Gene expression in gastrointestinal stromal tumors is distinguished by KIT genotype and anatomic site

CR Antonescu et al.

CLINICAL CANCER RESEARCH (2004)

添加到收藏夹

Article Oncology

Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor

MC Heinrich et al.

JOURNAL OF CLINICAL ONCOLOGY (2003)

添加到收藏夹

© Peeref 2019-2024. All rights reserved.