title: A case of multiple gastrointestinal stromal tumors caused by a germline KIT gene mutation (p.Leu576Pro).
abstract: Multiple gastrointestinal stromal tumors (GISTs) caused by germline KIT gene mutations are an extremely rare autosomal dominant disorder. We report a case of a 21-year-old woman who presented to the emergency department with a 2-week history of asthenia, palpitations and upper gastrointestinal bleeding. After further clinical evaluation one gastric and two small bowel GISTs were diagnosed, which were surgically resected after neoadjuvant therapy with Imatinib. Diffuse hyperplasia of the interstitial cells of Cajal was also seen in the background gastric and small intestinal walls. Somatic mutational analysis of the KIT gene revealed a substitution at codon 576 in exon 11 (p.Leu576Pro) in all tumors and normal ileal mucosa. The germline nature of this mutation was confirmed by mutation analysis in peripheral blood leukocytes. However, she had no familial history of GISTs and her parents did not carry the respective germline mutation.
authors: Serviço de Gastrenterologia, Instituto Português de Oncologia de Lisboa Francisco Gentil, E.P.E., Rua Prof. Lima Basto, 1099-023, Lisbon, Portugal. rita.vale.rodrigues@gmail.com.
authors: Rita
authors: R
authors: Vale Rodrigues
authors: Serviço de Anatomia Patológica, Instituto Português de Oncologia de Lisboa Francisco Gentil, E.P.E., Lisbon, Portugal.
authors: Filipa
authors: F
authors: Santos
authors: Serviço de Gastrenterologia, Instituto Português de Oncologia de Lisboa Francisco Gentil, E.P.E., Rua Prof. Lima Basto, 1099-023, Lisbon, Portugal.
authors: João
authors: J
authors: Pereira da Silva
authors: Unidade de Investigação de Patobiologia Molecular,, Instituto Português de Oncologia de Lisboa Francisco Gentil, E.P.E., Lisbon, Portugal.
authors: Inês
authors: I
authors: Francisco
authors: Serviço de Gastrenterologia, Instituto Português de Oncologia de Lisboa Francisco Gentil, E.P.E., Rua Prof. Lima Basto, 1099-023, Lisbon, Portugal.|Clínica de Risco Familiar, Instituto Português de Oncologia de Lisboa Francisco Gentil, E.P.E., Lisbon, Portugal.
authors: Isabel
authors: I
authors: Claro
authors: Unidade de Investigação de Patobiologia Molecular,, Instituto Português de Oncologia de Lisboa Francisco Gentil, E.P.E., Lisbon, Portugal.
authors: Cristina
authors: C
authors: Albuquerque
authors: Serviço de Anatomia Patológica, Instituto Português de Oncologia de Lisboa Francisco Gentil, E.P.E., Lisbon, Portugal.
authors: Maria Manuel
authors: MM
authors: Lemos
authors: Serviço de Cirurgia, Instituto Português de Oncologia de Lisboa Francisco Gentil, E.P.E., Lisbon, Portugal.
authors: Manuel
authors: M
authors: Limbert
authors: Serviço de Gastrenterologia, Instituto Português de Oncologia de Lisboa Francisco Gentil, E.P.E., Rua Prof. Lima Basto, 1099-023, Lisbon, Portugal.
authors: António
authors: A
authors: Dias Pereira
mesh_terms: D000328:Adult; D000970:Antineoplastic Agents / Q000627:therapeutic use; D001247:Asthenia / Q000209:etiology; D001706:Biopsy; D004252:DNA Mutational Analysis; D016099:Endoscopy, Gastrointestinal; D005091:Exons; D005260:Female; D006471:Gastrointestinal Hemorrhage / Q000209:etiology; D005770:Gastrointestinal Neoplasms / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D046152:Gastrointestinal Stromal Tumors / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D018095:Germ-Line Mutation; D006801:Humans; D000068877:Imatinib Mesylate / Q000627:therapeutic use; D056885:Interstitial Cells of Cajal / Q000473:pathology; D007421:Intestine, Small / Q000473:pathology / Q000601:surgery; D020360:Neoadjuvant Therapy; D009378:Neoplasms, Multiple Primary / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D035583:Rare Diseases / Q000235:genetics*; D013270:Stomach / Q000473:pathology / Q000601:surgery; D014057:Tomography, X-Ray Computed; D055815:Young Adult
chemical_list: D000970:Antineoplastic Agents; D000068877:Imatinib Mesylate; D019009:Proto-Oncogene Proteins c-kit
keywords: Gastrointestinal stromal tumors; Germline mutation; Hereditary GIST; KIT gene