Clinical Case Study

LeAnne Vitito, MS, RN, CGRN, APRN Department Editor

GASTROINTESTINAL STROMAL TUMOR IN TURCOT SYNDROME Hakan Bulus, MD Adnan Tas, MD Seyfettin Koklu, MD

T

urcot syndrome is a rare hereditary disorder (Turcot, Despres, & St. Pierre, 1959). The primary clinical feature of Turcot syndrome is the concurrent presence of multiple colorectal adenomas or carcinomas and primary tumors of the central nervous system (CNS). The brain tumor could be a medulloblastoma, astrocytoma, or a glioblastoma multiforme (Paraf, Jothy, & Van Meir, 1997). To our knowledge, we report the first case of a Turcot syndrome patient with gastrointestinal stromal tumor (GIST). A 35-year-old woman presented with a pelvic mass as an outpatient to the department of general surgery. The patient complained of dyspepsia and discomfort of the lower abdomen. Her medical history revealed that at 9 years of age, she had been diagnosed with a right frontoparietal lobe astrocytoma that was surgically resected. She also had a history of seizure disorder and mild mental retardation. Her physical examination revealed a large palpable mass in the right lower abdomen. Preoperative laboratory tests showed elevated levels of carcinoembryonic antigen (CEA). (19.77 [normal range 0-3 ng/ml]) cancer antigen (CA) 19-9: 2084 (0-35 U/ml), and CA 125: 95.2 (0-35 U/ml). Abdominal computed tomography (CT) showed a heterogeneous intra-abdominal mass with a diameter of 94 × 62 mm compressing the cecum (Figure 1). At colonoscopy, a mass with a diameter of 45 × 55 mm at the proximal hepatic flexure was detected.

Received May 1, 2014; accepted October 12, 2014. THE OFFICIAL JOURNAL OF THE SOCIETY OF GASTROENTEROLOGY NURSES AND ASSOCIATES, INC. AND THE CANADIAN SOCIETY OF GASTROENTEROLOGY NURSES AND ASSOCIATES

About the authors: Hakan Bulus, MD, is Specialist, Department of General Surgery, Kecioren Training and Research Hospital, Ankara, Turkey. Adnan Tas, MD, is Specialist, Department of Gastroenterology, Mustafa Kemal University, Hatay, Turkey. Seyfettin Koklu, MD, is Associate professor, Department of Gastroenterology, Ankara Education and Research Hospital, Ankara, Turkey. The authors declare no conflict of interest.

DEDICATED TO THE SAFE AND EFFECTIVE PRACTICE OF GASTROENTEROLOGY AND

Correspondence to: Adnan Tas, MD, Çekmece Caddesi, Çekmece Mahallesi Bina No:2 Kat:3 Daire No:13 Defne, Hatay, Turkey ([email protected]).

ENDOSCOPY NURSING

DOI: 10.1097/SGA.0000000000000101

126  Copyright © 2015 Society of Gastroenterology Nurses and Associates

Gastroenterology Nursing Copyright © 2015 Society of Gastroenterology Nurses and Associates. Unauthorized reproduction of this article is prohibited

GNJ-D-14-00058.indd 126

23/03/15 8:28 PM

Gastroenterology Nursing

Clinical Case Study

FIGURE 1. Adenocarcinoma with a diameter of 94 × 62 mm.

Histopathological examination of colonic samples revealed adenocarcinoma. Right hemicolectomy and end-to-side ileotransversostomy were performed. The result of the pathologic examination was moderately differentiated adenocarcinoma with a serosal extension and no local lymph-node metastasis. The resection margins were free from carcinoma. The postoperative course was uneventful and the patient was discharged on postoperative day 9. The patient remained healthy and symptom-free in 1 year of follow-up. One year later, the patient complained of discomfort, lack of appetite, fatigue, and weight loss. Physical examination was unremarkable other than mild tenderness over the umbilicus. Laboratory tests again showed levels of elevated CEA (210 [normal range 0-3 ng/ml), 210 (0-3 ng/ml), CA 19-9: 524 (0-35 U/ml), and CA 125: 85 (0-35 U/ml). Abdominal CT showed an intra-abdominal mass with a diameter of 11 × 12 cm (Figure 2). The mass was removed completely. The histopathological examination of the resected lesion revealed a mesenchymal tumor categorized as GIST tumor. The stromal tumor demonstrated whirling sheets of spindle cells with a moderate level of phenomorphism and mitotic activity. The patient had an uneventful postoperative course and was discharged on the 10th postoperative day. Turcot syndrome has been reported to be a dominant or recessive genetic disorder (Jamjoom, Sadiq, & Mofti, 1989). It is a genetically heterogeneous condition defined by the association of colorectal and CNS tumors (Turcot et al., 1959). Seventy percent of patients with Turcot syndrome ­present with intestinal cancer and develop the CNS manifestations within 5 years. Brain neoplasms were reported including glioma (55%), medulloblastoma (24%), astrocytoma, ependymoma,

VOLUME 38  |  NUMBER 2  |  MARCH/APRIL 2015 

FIGURE 2. Gastrointestinal stromal tumor (GIST) with a diameter of 11 × 12 cm.

pituitary adenoma, ­primary CNS lymphoma, meningioma, and craniopharyngioma in Turcot syndrome (Paraf et al., 1997). Astrocytoma was the CNS tumor in the present case. The reported mean age of disease onset is in the second and third decades as in our case (Turcot et al., 1959). The diagnosis of Turcot syndrome in an older adult, however, is rare (Matsui et al., 1998). When brain tumors appear first, colonic polyps tend to become symptomatic within 12 months (Chowdhary, Boehme, & Al-Jishi, 1985) but our patient had a 26-year gap between the initial diagnosis of astrocytoma and development of colon cancer. Furthermore, our patient had a 27-year gap between the initial diagnosis of astrocytoma and developing development of GIST. In conclusion, our case is of interest because it is the only case in the literature of Turcot syndrome showing a possible coincidence with a GIST.

REFERENCES Chowdhary, U. M., Boehme, D. H., & Al-Jishi, M. (1985). Turcot syndrome (glioma polyposis). Case report. Journal of Neurosurgery, 63, 804–807. Jamjoom, Z. A., Sadiq, S., & Mofti, A. B. (1989). Turcot syndrome: Report of a case and review of literature. International Journal of Surgery, 74, 45–50. Matsui, T., Hayashi, N., Yao, K., Yao, T., Takenaka, K., Hoashi, T., ... Koga, M. (1998). A father and son with Turcot’s syndrome: evidence for autosomal dominant inheritance. Diseases of the Colon & Rectum, 41, 797–801. Paraf, F., Jothy, S., & Van Meir, E. G. (1997). Brain tumor-­ polyposis syndrome: Two genetic diseases? Journal of Clinical Oncology, 15, 2744–2758. Turcot, J., Despres, J. P., & St. Pierre, F. (1959). Malignant tumors of the central nervous system associated with familial polyposis of the colon: Report of two cases. Diseases of Colon & Rectum, 2, 465–468.

127

Copyright © 2015 Society of Gastroenterology Nurses and Associates. Unauthorized reproduction of this article is prohibited

GNJ-D-14-00058.indd 127

23/03/15 8:28 PM

Gastrointestinal stromal tumor in Turcot syndrome.

Gastrointestinal stromal tumor in Turcot syndrome. - PDF Download Free
427KB Sizes 1 Downloads 8 Views