Coincident liposarcoma, carcinoid and gastrointestinal stromal tumor complicating type 1 neurofibromatosis: Case report and literature review
Introduction
Neurofibromatosis type 1 (NF1) is a common genetic disease, with an estimated incidence of 1 in 2500–3000 live births.1 It is inherited as an autosomal dominant disorder with variable penetrance, and is caused by a wide array of mutations in the neurofibromatosis (NF1) gene on chromosome 17. Although neurofibromas are the hallmark of the disease, NF1 patients are at increased risk for the development of neural, mesenchymal and neuroendocrine tumors, among others2, 3 (see also4 for a review). The clinical severity of NF1 is variable and indicates that phenotypic expression is determined through modifier genes.5, 6, 7 Multiple malignant mesenchymal tumors, or sarcomas, have been reported in NF1, of which malignant peripheral nerve sheath tumor (MPNST) is by far the most common.8 Liposarcoma (LPS) arising in NF1 patients is very rare.9, 10, 11, 12, 13, 14, 15 It is most often pleomorphic, dedifferentiated or myxoid type. In fact, a case of well-differentiated liposarcoma in NF1 has, to our knowledge, never been reported.
Here, we report an unusual case of a patient with a clinical history of NF1 and three coincident abdominal tumors: a low-grade neuroendocrine tumor of the rectum, a gastrointestinal stromal tumor (GIST) of the small bowel serosa, and a well-differentiated liposarcoma of the small bowel mesentery. This unusual case highlights the spectrum of mesenchymal tumors in NF1, and the first case of well-differentiated liposarcoma.
Section snippets
Case presentation
A 55-year-old female with NF1 presented with mild rectal bleeding and a history of a prior rectal ‘polyp.’ The patient had a long-standing diagnosis of NF1, and disease manifestations including numerous cutaneous neurofibromas and mild cognitive deficits. Four years previously, the patient had a 2.5 cm bleeding rectal polyp. This was removed by transanal excision and diagnosed as a low-grade neuroendocrine tumor (performed at an outside hospital with pathology unavailable for review). Margin
Discussion and literature review
In summary, we present a patient with NF1 complicated by three coincident abdominal tumors: a rectal carcinoid tumor, a gastrointestinal stromal tumor of the jejunal serosa, and a mesenteric well-differentiated liposarcoma. Given the rarity of LPS in NF1 patients, the diagnosis was confirmed by two separate biopsy specimens as well as FISH-identified MDM2 amplification. This extremely unusual case highlights the diverse tumors encountered in NF1. In subsequent sections, we will discuss both the
Conclusion
In summary, we present a highly unusual case of an NF1 patient with coincident well-differentiated liposarcoma, GIST and carcinoid tumors. Liposarcoma in NF1 is a rare but described entity. However, a large number of reported cases likely represent liposarcomatous differentiation within peripheral nerve sheath tumors.
Conflicts of interest
All authors have none to declare.
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