A case of multiple gastrointestinal stromal tumors caused by a germline KIT gene mutation (p.Leu576Pro)

• Published in: Familial cancer Vol. 16; no. 2; pp. 267 - 270
• Main Authors: Vale Rodrigues, Rita, Santos, Filipa, Pereira da Silva, João, Francisco, Inês, Claro, Isabel, Albuquerque, Cristina, Lemos, Maria Manuel, Limbert, Manuel, Dias Pereira, António
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01.04.2017; Springer Nature B.V
• Subjects: Adult; Antineoplastic Agents - therapeutic use; Asthenia - etiology; Biomedical and Life Sciences; Biomedicine; Biopsy; Cancer Research; DNA Mutational Analysis; Endoscopy, Gastrointestinal; Epidemiology; Exons; Female; Gastrointestinal Hemorrhage - etiology; Gastrointestinal Neoplasms - complications; Gastrointestinal Neoplasms - diagnosis; Gastrointestinal Neoplasms - genetics; Gastrointestinal Neoplasms - therapy; Gastrointestinal Stromal Tumors - complications; Gastrointestinal Stromal Tumors - diagnosis; Gastrointestinal Stromal Tumors - genetics; Gastrointestinal Stromal Tumors - therapy; Germ-Line Mutation; Human Genetics; Humans; Imatinib Mesylate - therapeutic use; Interstitial Cells of Cajal - pathology; Intestine, Small - pathology; Intestine, Small - surgery; Neoadjuvant Therapy; Neoplasms, Multiple Primary - complications; Neoplasms, Multiple Primary - diagnosis; Neoplasms, Multiple Primary - genetics; Neoplasms, Multiple Primary - therapy; Proto-Oncogene Proteins c-kit - genetics; Rare Diseases - genetics; Short Communication; Stomach - pathology; Stomach - surgery; Tomography, X-Ray Computed; Young Adult; Germline mutation; Gastrointestinal stromal tumors; KIT gene; Hereditary GIST
• ISSN: 1389-9600; 1573-7292
• DOI: 10.1007/s10689-016-9941-1

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.