Ann Surg Treat Res.  2014 Sep;87(3):156-160. 10.4174/astr.2014.87.3.156.

Synchronous multiple colonic adenocarcinomas arising in patient with neurofibromatosis type 1

• Kim IY
• Cho MY
• Kim YW

• KMID: 1908487
• DOI: http://doi.org/10.4174/astr.2014.87.3.156

Abstract

We report a case of synchronous multiple colon adenocarcinomas in a patient with neurofibromatosis type 1 (NF1). NF1 is an autosomal dominant inherited disorder and patients with NF1 have high risk for both benign and malignant tumors. However, adenocarcinomas involving the colon have rarely been reported in patients with NF1. A 61-year-old man was referred for generalized peritonitis due to descending colon perforation. Left hemicolectomy was performed and pathologic examination showed four adenocarcinomas. Peritoneal nodules were confirmed as metastatic adenocarcinoma (pT4N1M1). The patient also had clinical features compatible with NF1 such as cafe au lait macules, axillary freckles, neurofibromas across the body, and Lisch nodules. Upon review of the literature, colon adenocarcinoma in patients with NF1 tends to occur in males and relatively young age groups, and is associated with advanced tumor stages and multiple colon cancers. To improve treatment outcome, early colonoscopic surveillance should be considered in patients with NF1.

Keyword

Neurofibromatosis; Colon; Adenocarcinoma

MeSH Terms

Adenocarcinoma*
Colon*
Colon, Descending
Colonic Neoplasms
Humans
Male
Melanosis
Middle Aged
Neurofibroma
Neurofibromatoses
Neurofibromatosis 1*
Peritonitis
Treatment Outcome

Figure

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  Fig. 1 Clinical manifestations of a 61-year-old male patient. (A) Cafe-au-lait macules in the right thigh. (B) Freckles in the right axilla. (C) Multiple neurofibromas in the anterior chest wall. (D) Axial image of abdominal computed tomography scan shows descending colon tumor infiltration to the left anterior renal fascia (white arrow head) and pneumoperitoneum (white arrow).

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  Fig. 2 Histopathologic findings. (A) A total of four adenocarcinomas (a to d) are seen in the specimen. (B) The corresponding histopathologic examination (matched with tumor lesions, alphabetical order). There are one pT4 lesion (a), two pT3 lesions (b, c), and a carcinoma in situ lesion (d) (H&E, ×200).

Reference

1. Seminog OO, Goldacre MJ. Risk of benign tumours of nervous system, and of malignant neoplasms, in people with neurofibromatosis: population-based record-linkage study. Br J Cancer. 2013; 108:193–198.

2. Kim KJ, Choi SR, Sohn SH, Lee S, Hong KB, Keum DJ, et al. A case of colon cancer in a patient with neurofibromatosis type I. Korean J Gastroenterol. 2002; 40:402–405.

3. Kim SE, Heo EP, Yoon TJ, Kim TH. Segmentally distributed neurofibromatosis associated with adenocarcinoma of the colon. J Dermatol. 2002; 29:350–353.

4. Jenkins DH, Gill W. A case of carcinoma of the colon in association with neurofibromatosis. Br J Surg. 1972; 59:322–323.

5. Shousha S, Smith PA. Colonic ganglioneuroma: report of a case in a patient with neurofibromatosis, multiple colonic adenomas and adenocarcinoma. Virchows Arch A Pathol Anat Histol. 1981; 392:105–109.

6. Snover DC, Weigent CE, Sumner HW. Diffuse mucosal ganglioneuromatosis of the colon associated with adenocarcinoma. Am J Clin Pathol. 1981; 75:225–229.

7. Shearer P, Parham D, Kovnar E, Kun L, Rao B, Lobe T, et al. Neurofibromatosis type I and malignancy: review of 32 pediatric cases treated at a single institution. Med Pediatr Oncol. 1994; 22:78–83.

8. Wood JJ, Longman RJ, Rooney N, Loveday EJ, Roe AM. Colonic vascular anomalies and colon cancer in neurofibromatosis: report of a case. Dis Colon Rectum. 2008; 51:360–362.

9. Agaimy A, Vassos N, Croner RS. Gastrointestinal manifestations of neurofibromatosis type 1 (Recklinghausen's disease): clinicopathological spectrum with pathogenetic considerations. Int J Clin Exp Pathol. 2012; 5:852–862.

10. Li Y, Bollag G, Clark R, Stevens J, Conroy L, Fults D, et al. Somatic mutations in the neurofibromatosis 1 gene in human tumors. Cell. 1992; 69:275–281.