Multiple gastrointestinal stromal tumors : Clinicopathologic and genetic analysis of 12 patients

Multiple gastrointestinal stromal tumors (GISTs) are extremely rare and usually associated with type 1 neurofibromatosis and familial GIST. The aim of this study was to investigate the clinical, phenotypic, and genetic characteristics of multiple GISTs to gain insights into their underlying pathogen...

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Bibliographic Details
Published in:	The American journal of surgical pathology Vol. 31; no. 2; pp. 224 - 232
Main Authors:	DAE YOUNG KANG, CHEOL KEUN PARK, KANG, Haeyun, KIM, Kyoung-Mee, JONG SANG CHOI, SO YOUNG JIN, HYUN JUNG KIM, JOO, Mee, MI SEON KANG, WOO SUNG MOON, KI JUNG YUN, EUN SIL YU
Format:	Journal Article
Language:	English
Published:	Hagerstown, MD Lippincott Williams & Wilkins 01-02-2007
Subjects:	Adult Aged Algorithms Biological and medical sciences DNA, Neoplasm - analysis Female Gastroenterology. Liver. Pancreas. Abdomen Gastrointestinal Stromal Tumors - genetics Gastrointestinal Stromal Tumors - metabolism Gastrointestinal Stromal Tumors - pathology Germ-Line Mutation Humans Immunohistochemistry Intestinal Mucosa - chemistry Intestinal Mucosa - pathology Investigative techniques, diagnostic techniques (general aspects) Male Medical sciences Middle Aged Mutation Neoplasms, Multiple Primary - genetics Neoplasms, Multiple Primary - metabolism Neoplasms, Multiple Primary - pathology Neurofibromatosis 1 - genetics Neurofibromatosis 1 - pathology Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques Proto-Oncogene Proteins c-kit - genetics Proto-Oncogene Proteins c-kit - metabolism Receptor, Platelet-Derived Growth Factor alpha - genetics Receptor, Platelet-Derived Growth Factor alpha - metabolism Retrospective Studies Stomach. Duodenum. Small intestine. Colon. Rectum. Anus Tumors Human Nervous system diseases Multiple Phacomatosis Sporadic Pathogenesis Gastrointestinal stromal tumor familial Anatomic pathology Histopathology Neurofibromatosis Digestive diseases Genetics Benign neoplasm
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Summary:	Multiple gastrointestinal stromal tumors (GISTs) are extremely rare and usually associated with type 1 neurofibromatosis and familial GIST. The aim of this study was to investigate the clinical, phenotypic, and genetic characteristics of multiple GISTs to gain insights into their underlying pathogenesis and clinical behavior. Forty-seven paraffin blocks of multiple GISTs from 12 patients were analyzed. Genomic DNA was extracted from the tumor and normal mucosa and mutations for 4 exons of KIT gene and 3 exons of PDGFRA gene were determined. Among 12 patients with multiple GISTs, 5 were sporadic, 2 were familial with germline mutations of KIT gene, and 5 were associated with type 1 neurofibromatosis. All but 1 sporadic and familial multiple GISTs showed mutations of KIT gene shared by the same mutation on each GIST mass within a patient. But in 1 sporadic case, different types of KIT mutations were observed. Two familial multiple GIST cases showed diffuse involvement of the gastrointestinal tract with diffuse hyperplasia of interstitial cell of Cajal. Multiple GISTs associated with type 1 neurofibromatosis were located in the jejunum and harbored no mutations of KIT or PDGFRA. Different types of KIT gene mutation found in our case raise a possibility that recurrence of GISTs within a gastrointestinal tract may have a chance to be a rare occurrence of multiple primary GISTs instead of true recurrence. Multiple GISTs show unique clinical, phenotypic, and genotypic characteristics that are dependent on the particular underlying mechanisms, but the overall prognosis is favorable regardless of the numbers or phenotype of GISTs.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0147-5185 1532-0979
DOI:	10.1097/01.pas.0000213318.66800.94