Familial Gastrointestinal Stromal Tumor Syndrome: Report of 2 Cases with KIT Exon 11 Mutation

Jones, Derek; Caracciolo, Jamie T.; Hodul, Pamela J.; Strosberg, Jonathan R.; Coppola, Domenico

doi:10.1177/107327481502200113

Cited by 20 publications

(16 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Most cases are sporadic, whereas familial clustering is reported in only 1.5-4% of the cases (69,102). Familial GIST is an autosomal dominant condition caused by germline mutations of cKIT or PDGFRA and manifests at earlier age.…”

Section: Risk Factorsmentioning

confidence: 99%

Surgical treatment of gastrointestinal stromal tumors of the duodenum: a literature review

Popivanov¹,

Tabakov²,

Mantese³

et al. 2018

Transl. Gastroenterol. Hepatol

View full text Add to dashboard Cite

Background: Gastrointestinal stromal tumors (GIST) are the most frequent mesenchymal tumours in the digestive tract. The duodenal GIST (dGIST) is the rarest subtype, representing only 4-5% of all GIST, but up to 21% of the resected ones. The diagnostic and therapeutic management of dGIST may be difficult due to the rarity of this tumor, its anatomical location, and the clinical behavior that often mimic a variety of conditions; moreover, there is lack of consent for their treatment. This study has evaluated the scientific literature to provide consensus on the diagnosis of dGIST and to outline possible options for surgical treatment.Methods: An extensive research has been carried out on the electronic databases MEDLINE, Scopus, EMBASE and Cochrane to identify all clinical trials that report an event or case series of dGIST.Results: Eighty-six studies that met the inclusion criteria were identified with five hundred forty-nine patients with dGIST: twenty-seven patients were treated with pancreatoduodenectomy and ninety-six with only local resection (segmental/wedge resections); in four hundred twenty-six patients it is not possible identify the type of treatment performed (pancreatoduodenectomy or segmental/wedge resections).Conclusions: dGISTs are a very rare subset of GISTs. They may be asymptomatic or may involve symptoms of upper GI bleeding and abdominal pain at presentation. Because of the misleading clinical presentation the differential diagnosis may be difficult. Tumours smaller than 2 cm have a low biological aggressiveness and can be followed annually by endoscopic ultrasound. The biggest ones should undergo radical surgical resection (R0). In dGIST there is no uniformly adopted surgical strategy because of the low incidence, lack of experience, and the complex anatomy of the duodenum. Therefore, individually tailored surgical approach is recommended. R0 resection with 1-2 cm clear margin is required. Lymph node dissection is not recommended due to the low incidence of lymphatic metastases. Tumor rupture should be avoided.

show abstract

Section: Risk Factorsmentioning

confidence: 99%

Surgical treatment of gastrointestinal stromal tumors of the duodenum: a literature review

Popivanov¹,

Tabakov²,

Mantese³

et al. 2018

Transl. Gastroenterol. Hepatol

View full text Add to dashboard Cite

show abstract

“…Out of the 35 familial GIST, including the present kindred, described so far, 22 carry mutations in exon 11 (encoding the juxtamembrane domain), seven in exon 13 (kinase I domain), four in exon 17 (kinase II domain), one single family, and one single patient in exons 8 and 9 (extracellular juxtamembrane domain), respectively …”

Section: Discussionmentioning

confidence: 87%

“…Only about half of the patients with sporadic GIST respond to imatinib treatment; 12–14% show primary resistance to imatinib, and 40−50% experience secondary resistance and disease progression within 2–3 years from the beginning of therapy. With regard to familial GISTs, there are 12 reports (including the present study) on the use of imatinib in 24 patients with c‐kit germline mutations (Table ) …”

Section: Discussionmentioning

confidence: 97%

“…Familial GISTs, associated with germline c‐kit mutation, are a very rare inherited condition described so far in 34 different families . The KIT receptor is expressed on erythrocytes, melanocytes, germ cells, mast cells, and interstitial cells of Cajal (ICC).…”

Section: Discussionmentioning

confidence: 99%

“…Familial GISTs, caused by germline gain‐of‐function c‐ kit mutations, represent a rare autosomal dominant condition characterized by multiple primary neoplasms, involvement of several family members, early presentation, and additional clinical features, including hyperpigmentation, mast cell disease, and dysphagia . Gain‐of‐function mutations of c‐kit produce a constitutive, ligand independent activation of the receptor and downstream pathways .…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations