Int J Gastrointest Canc (2006) 37:146–148 DOI 10.1007/s12029-007-9000-0
CASE
Dermatofibrosarcoma Protuberans and Small Bowel Adenocarcinoma: Coincidental Occurrence or Genetic Association? Ashley Sumrall & Nilam Soni
Published online: 17 October 2007 # Humana Press Inc. 2007
Abstract A case of multiple malignancies in a 41 year old African American man is described. After surgical excision and radiotherapy of dermatofibrosarcoma protuberans, the patient developed small bowel adenocarcinoma. We propose a common etiology to these canceres via tumor suppressor gene p53.
second primary tumors has been previously reported [1]. We report the first case of DFSP associated with adenocarcinoma of the small intestine.
Keywords dermatofibrosarcoma protuberans . second primary cancers . small bowel adenocarcinoma
A 41-year-old African-American man was admitted to University of Mississippi Medical Center in November 2005 with melena and hematochezia. His medical history was significant for diabetes mellitus (type II), anemia, gastroesophageal reflux disease (GERD), and DFSP. He presented with a sacral mass and right inguinal lymphadenopathy when he was diagnosed with DFSP in 1995. The sacral mass was treated by multiple surgical resections followed by radiation therapy for 6 months. A recurrence of DFSP in his right inguinal region in March of 2005 was also resected, but no follow-up care was maintained. The patient’s melena and hematochezia started on the day of admission. He only recalled feeling nauseated the day before admission. He had a prior history of GERD after eating spicy foods, but had never taken antacids or proton pump inhibitors. On further inquiry, the patient recalled an unintentional 50-lb weight loss over the past year and admitted to a 19-pack year smoking history. He denied odynophagia, dysphagia, tenesmus, hematemesis, hemorrhoids, or change in bowel habits. Physical examination was remarkable for 1+ pedal edema bilaterally, along with palpable splenomegaly and mild hepatomegaly. His right inguinal region had scar tissue, and the sacrum showed a well-healed incision with post radiation changes. There was decreased sensation to pinprick and vibration in glove-stocking distribution bilaterally consistent with his previous history of diabetic neuropathy.
Introduction Second primary cancers are an increasingly more frequent group of malignancies. Results from the U.S. National Cancer Institute’s Surveillance, Epidemiology, and End Results (SEER) survey indicate that the rate of multiple primary neoplasms has doubled over the past 20 years and currently comprise nearly 13% of cancers. Shared lifestyle, environmental, and genetic risk factors seem to underlie the predisposition to developing multiple primary cancers. Dermatofibrosarcoma protuberans (DFSP) is a rare cutaneous, soft tissue sarcoma of spindle cells affecting one to two persons per million annually. It is associated with a chromosomal translocation, t(17:22), which fuses the collagen type I alpha 1 (COL1A1) gene with the plateletderived growth factor B-chain (PDGF) gene [5]. A suspected genetic predisposition of patients with DFSP to
A. Sumrall (*) : N. Soni Department of Internal Medicine, University of Mississippi Medical Center, Jackson, MS, USA e-mail:
[email protected]
Case report
Int J Gastrointest Canc (2006) 37:146–148
Laboratory examination showed a profound microcytic anemia (hematocrit, 18.5; mean corpuscular volume, 65). Iron studies revealed a serum iron level of 5 with an iron saturation of 1, total iron-binding capacity of 489, and ferritin was
