Laparoscopic surgery for familial multiple gastrointestinal stromal tumors with germ line c-kit gene mutation.
c-kit germ line mutations
familial gastrointestinal stromal tumors
single-incision laparoscopic surgery (SILS)
Journal
Asian journal of endoscopic surgery
ISSN: 1758-5910
Titre abrégé: Asian J Endosc Surg
Pays: Japan
ID NLM: 101506753
Informations de publication
Date de publication:
Apr 2021
Apr 2021
Historique:
revised:
31
05
2020
received:
05
04
2020
accepted:
07
06
2020
pubmed:
11
7
2020
medline:
20
8
2021
entrez:
11
7
2020
Statut:
ppublish
Résumé
Familial gastrointestinal stromal tumor (GIST) is an exceedingly rare disease characterized by mutations in the c-kit and platelet-derived growth factor receptor alpha genes. We report the case of a 73-year-old woman with multiple submucosal tumors (SMTs) in the stomach and small intestine. Her elder sister had previously presented with multiple SMTs on examination and underwent surgery to remove the tumors because they showed a tendency to increase in size during follow-up. The sister's tumors were pathologically diagnosed as GISTs, and a germ line mutation was recognized in exon 17 of c-kit. Subsequently, the patient presented with multiple SMTs and the same germ line mutation as her sister. After 9 years of follow-up, a single tumor was found to have grown in size, and SILS was performed for this SMT, which was also pathologically diagnosed as a GIST. To our knowledge, this is the first report of laparoscopic surgery for a case of familial GIST.
Substances chimiques
Proto-Oncogene Proteins c-kit
EC 2.7.10.1
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
250-253Informations de copyright
© 2020 Asia Endosurgery Task Force and Japan Society of Endoscopic Surgery and John Wiley & Sons Australia, Ltd.
Références
Nishida T, Hirota S, Taniguchi M, et al. Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. Nat Genet. 1998;19(4):323-324.
Nishimura J, Nakajima K, Omori T, et al. Surgical strategy for gastric gastrointestinal stromal tumors: laparoscopic vs. open resection. Surg Endosc. 2007;21(6):875-878.
Heinrich MC, Corless CL, Duensing A, et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science. 2003;299(5607):708-710.
Hirota S, Ohashi A, Nishida T, et al. Gain-of-function mutations of platelet-derived growth factor receptor alpha gene in gastrointestinal stromal tumors. Gastroenterology. 2003;125(3):660-667.
Sekido Y, Ohigashi S, Takahashi T, Hayashi N, Suzuki K, Hirota S. Familial gastrointestinal stromal tumor with germline KIT mutations accompanying hereditary breast and ovarian cancer syndrome. Anticancer Res. 2017;37(3):1425-1431.
Grimpen F, Yip D, McAuthur G, et al. Resistance to imatinib, low-grade FDG-avidity on PET, and acquired KIT exon 17 mutation in gastrointestinal stromal tumor. Lancet Oncol. 2005;6(9):724-727.
Chompret A, Kannengiesser C, Barrois M, et al. PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. Gastroenterology. 2004;126(1):318-321.
Chen H, Hirota S, Isozaki K, et al. Polyclonal nature of diffuse proliferation of interstitial cells of Cajal in patients with familial and multiple gastrointestinal stromal tumors. Gut. 2002;51(6):793-796.
Demetri GD, Benjamin RS, Blanke CD, et al. NCCN GIST Task Force. NCCN Task Force report: optimal management of patients with gastrointestinal stromal tumor (GIST)-expansion and update of NCCN Clinical Practice Guidelines. J Natl Compr Canc Netw. 2004;Suppl1:S1-S26;quiz 27-30.
Otani Y, Furukawa T, Yoshida M, et al. Operative indications for relatively small (2-5 cm) gastrointestinal stromal tumor of the stomach based on analysis of 60 operated cases. Surgery. 2006;139(4):484-492.