Gastrointestinal Stromal Tumors, Intramural Leiomyomas, and Leiomyosarcomas in the Duodenum: A Clinicopathologic, Immunohistochemical, and Molecular Genetic Study of 167 Cases

• Published in: The American journal of surgical pathology Vol. 27; no. 5; pp. 625 - 641
• Main Authors: Miettinen, Markku, Kopczynski, Janusz, Makhlouf, Hala R, Sarlomo-Rikala, Maarit, Gyorffy, Hajnalka, Burke, Allen, Sobin, Leslie H, Lasota, Jerzy
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Copyright Wolters Kluwer Health, Inc. All rights reserved 01-05-2003; Lippincott Williams & Wilkins
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Biological and medical sciences; Biomarkers, Tumor - analysis; Child; DNA Mutational Analysis; DNA, Neoplasm - analysis; Duodenal Neoplasms - chemistry; Duodenal Neoplasms - genetics; Duodenal Neoplasms - mortality; Duodenal Neoplasms - pathology; Female; Gastroenterology. Liver. Pancreas. Abdomen; Humans; Immunoenzyme Techniques; Leiomyoma - chemistry; Leiomyoma - genetics; Leiomyoma - mortality; Leiomyoma - pathology; Leiomyosarcoma - chemistry; Leiomyosarcoma - genetics; Leiomyosarcoma - mortality; Leiomyosarcoma - pathology; Male; Medical sciences; Middle Aged; Neoplasm Proteins - analysis; Polymerase Chain Reaction; Prognosis; Proto-Oncogene Proteins c-kit - genetics; Proto-Oncogene Proteins c-kit - metabolism; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus; Stromal Cells - chemistry; Stromal Cells - pathology; Survival Rate; Tumors; Immunohistochemistry; Leiomyoma; Prognosis; Duodenal disease; Sex; Smooth muscle; GIST-Immunohistochemistry-Pathology- KIT-Genetics-Leiomyoma-Leiomyosarcoma- Duodenum; Histopathology; Intestinal disease; Benign neoplasm; Age; Gastric disease; Human; Stomach; Duodenum; Mortality; Gut; Clinical form; Malignant tumor; Pathology; Gastrointestinal diseases; Risk factor; Leiomyosarcoma; Digestive diseases; Molecular biology
• ISSN: 0147-5185; 1532-0979
• DOI: 10.1097/00000478-200305000-00006

In this study we analyzed the clinicopathologic features of duodenal smooth muscle or stromal tumors, including 156 GISTs, 6 leiomyomas (LMs), and 5 leiomyosarcomas (LMSs) from the files of the Armed Forces Institute of Pathology and the Haartman Institute of the University of Helsinki. GISTs were documented as KIT positive (n = 109); 47 tumors were also included because of their histologic identity to KIT-positive cases. GIST-specific c-kit gene mutations were documented in exon 11 in 9 of 30 cases (30%) and exon 9 in 4 of 30 cases (13%). The GISTs occurred in patients with an age range of 10–88 years (median 56 years); 54% were male. Ten patients had neurofibromatosis type I; six of them had multiple GISTs. The GISTs ranged from small asymptomatic intramural or external nodules to large masses that extended into the retroperitoneum (median size 4.5 cm). They were mostly spindle cell tumors; three malignant GISTs had an epithelioid morphology, and 81 cases had skeinoid fibers. The tumors often coexpressed CD34 and KIT (54%) and were variably positive for smooth muscle actin (39%) and S-100 protein (20%) but never for desmin. A total of 86% of patients with tumors >5 cm with >5 mitoses/50 high power fields (HPF) (n = 21) died of disease, whereas no tumor <2 cm with <5 mitoses/50 HPF (n = 12) recurred or caused death. Long latency was common between primary operation and recurrences or metastases; either one occurred in 49 of 140 patients with follow-up (35%). No formula could accurately predict metastases, which occasionally developed even if mitotic activity was <5/50 HPF and size <5 cm. Metastases were in the abdominal cavity, liver, and rarely in bones and lungs but never in lymph nodes. Four actin- and desmin-positive and KIT-negative benign intramural LMs were similar to those more often seen in the esophagus. There were five LMSs, one of which formed a polypoid intraluminal mass; all were actin positive and KIT negative. The great majority of duodenal mesenchymal tumors are GISTs, which have a spectrum from small indolent tumors to overt sarcomas. LMs and LMSs are rare.