Surgery for multiple gastric gastrointestinal stromal tumors and large esophageal diverticulum related to germline mutation of the KIT gene: a case report.
Esophageal diverticulum
Familial GIST
KIT germ-line mutation
Journal
Surgical case reports
ISSN: 2198-7793
Titre abrégé: Surg Case Rep
Pays: Germany
ID NLM: 101662125
Informations de publication
Date de publication:
23 Oct 2023
23 Oct 2023
Historique:
received:
05
08
2023
accepted:
14
10
2023
medline:
23
10
2023
pubmed:
23
10
2023
entrez:
23
10
2023
Statut:
epublish
Résumé
Familial gastrointestinal stromal tumors (GISTs) are mesenchymal tumors of the digestive tract caused by germline gain-of-function mutations in the KIT gene or platelet-derived growth factor receptor alpha gene (PDGFRA). These mutations cause not only multiple GISTs but also diffuse hyperplasia of interstitial cells of Cajal (ICCs), which is related to esophageal motility disorder. A 53-year-old man was referred to our hospital because of anemia and dysphagia. Fifteen years earlier, he had undergone a laparoscopic partial gastrectomy for multiple gastric GISTs with a germline mutation in exon 17 of the KIT gene. An upper gastrointestinal endoscopy revealed that the patient had multiple gastric GISTs and a large esophageal diverticulum directly above the esophagogastric junction. The largest gastric tumor was 7 cm, with a delle that might cause bleeding. Because the patient presented with dysphagia, we performed video-assisted thoracic esophagectomy and laparoscopic-assisted proximal gastrectomy simultaneously. The patient had survived without metastasis for 4 years after surgery and dysphagia had improved. This is the first report of successful laparoscopic-thoracoscopic surgery for a patient with familial gastric GISTs accompanied with a large esophageal diverticulum.
Sections du résumé
BACKGROUND
BACKGROUND
Familial gastrointestinal stromal tumors (GISTs) are mesenchymal tumors of the digestive tract caused by germline gain-of-function mutations in the KIT gene or platelet-derived growth factor receptor alpha gene (PDGFRA). These mutations cause not only multiple GISTs but also diffuse hyperplasia of interstitial cells of Cajal (ICCs), which is related to esophageal motility disorder.
CASE PRESENTATION
METHODS
A 53-year-old man was referred to our hospital because of anemia and dysphagia. Fifteen years earlier, he had undergone a laparoscopic partial gastrectomy for multiple gastric GISTs with a germline mutation in exon 17 of the KIT gene. An upper gastrointestinal endoscopy revealed that the patient had multiple gastric GISTs and a large esophageal diverticulum directly above the esophagogastric junction. The largest gastric tumor was 7 cm, with a delle that might cause bleeding. Because the patient presented with dysphagia, we performed video-assisted thoracic esophagectomy and laparoscopic-assisted proximal gastrectomy simultaneously. The patient had survived without metastasis for 4 years after surgery and dysphagia had improved.
CONCLUSIONS
CONCLUSIONS
This is the first report of successful laparoscopic-thoracoscopic surgery for a patient with familial gastric GISTs accompanied with a large esophageal diverticulum.
Identifiants
pubmed: 37870660
doi: 10.1186/s40792-023-01766-w
pii: 10.1186/s40792-023-01766-w
pmc: PMC10593636
doi:
Types de publication
Journal Article
Langues
eng
Pagination
183Informations de copyright
© 2023. Japan Surgical Society.
Références
Hirota S, Ohashi A, Nishida T, et al. Gain-of-function mutation of platelet-derived growth factor receptor alpha gene in gastrointestinal stromal tumors. Gastroenterology. 2003;125:660–7.
doi: 10.1016/S0016-5085(03)01046-1
pubmed: 12949711
Thomsen L, Robinson TL, Lee JCF, et al. Interstitial cells of Cajal generate a rhythmic pacemaker current. Nat Med. 1998;4:848–51.
doi: 10.1038/nm0798-848
pubmed: 9662380
Chen H, Hirota S, Isozaki K, Sun H, et al. Polyclonal nature of diffuse proliferation of interstitial cells of Cajal in patients with familial and multiple gastrointestinal stromal tumors. Gut. 2002;51:793–6.
doi: 10.1136/gut.51.6.793
pubmed: 12427778
pmcid: 1773468
Rubin BP, Heinrich MC, Corless CL. Gastrointestinal stromal tumour. Lancet. 2007;369(9574):1731–41.
doi: 10.1016/S0140-6736(07)60780-6
pubmed: 17512858
Lux ML, Rubin BP, Biase TL, et al. KIT extracellular and kinase domain mutations in gastrointes- tinal stromal tumors. Am J Pathol. 2000;156:791–5.
doi: 10.1016/S0002-9440(10)64946-2
pubmed: 10702394
pmcid: 1876850
Hirota S, Nishida T, Isozaki K, Taniguchi M, Nakamura J, Okazaki T, et al. Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. J Pathol. 2001;193:505–10.
doi: 10.1002/1096-9896(2000)9999:9999<::AID-PATH818>3.0.CO;2-E
pubmed: 11276010
Miettinen M, Majidi M, Lasota J, et al. Pathology and diagnostic criteria of gastrointestinal stromal tumors (GISTs): a review. Eur J Cancer. 2002;38(Suppl 5):S39-51.
doi: 10.1016/S0959-8049(02)80602-5
pubmed: 12528772
Nishida T, Hirota S, Taniguchi M, et al. Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. Nat Genet. 1998;19:323–4324.
doi: 10.1038/1209
pubmed: 9697690
Chompret A, Kannengiesser C, Barrois M, et al. PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. Gastroenterology. 2004;126:318–21.
doi: 10.1053/j.gastro.2003.10.079
pubmed: 14699510
Sekido Y, Ohigashi S, Takahashi T, et al. Familial gastrointestinal stromal tumor with germline KIT mutations accompanying hereditary breast and ovarian cancer syndrome. Anticancer Res. 2017;37:1425–31.
doi: 10.21873/anticanres.11466
pubmed: 28314314
Hirota S, Nishida T, Isozaki K, et al. Familial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of KIT gene. Gastroenterology. 2002;122(5):1493–9.
doi: 10.1053/gast.2002.33024
pubmed: 11984533
Shinomura Y, Kinoshita K, Tsutsui S, et al. Pathophysiology, diagnosis, and treatment of gastrointestinal stromal tumors. J Gastroenterol. 2005;40:775–80.
doi: 10.1007/s00535-005-1674-0
pubmed: 16143881
Shintaku Y, Asano Y, Watanabe T, et al. A case of planar-type GIST of the sigmoid colon showing diverticular structure with perforation. World J Surg Oncol. 2020;18(1):125.
doi: 10.1186/s12957-020-01906-8
pubmed: 32527279
pmcid: 7291680
Khitaryan A, Golovina A, Mezhunts A, et al. Laparoscopic-thoracoscopic esophageal resection in the treatment of giant epiphrenic esophageal diverticulum (Ivor Lewis operation): case report. Int J Surg Case Rep. 2018;52:89–94.
doi: 10.1016/j.ijscr.2018.10.005
pubmed: 30336387