Coincident liposarcoma, carcinoid and gastrointestinal stromal tumor complicating type 1 neurofibromatosis: Case report and literature review

Abstract

Neurofibromatosis type 1 (NF1) is associated with increased risk of multiple neoplasms. We present a case of a female patient with NF1 who presented with a rectal low-grade neuroendocrine (carcinoid) tumor. Computed tomography imaging found a well-differentiated liposarcoma and a well-circumscribed gastro-intestinal stromal tumor (GIST). Although GIST and carcinoid tumors are frequently found in NF1 patients, liposarcoma complicating NF1 is quite rare and this is the first reported case of well-differentiated liposarcoma in NF1. In summary, we report a case of coincident abdominal carcinoid tumor, GIST and well-differentiated liposarcoma, which illustrates the variability of neoplasms in NF1 patients.

Keywords: Carcinoid; GIST; Malignant peripheral nerve sheath tumor; Type 1 neurofibromatosis; Well-differentiated liposarcoma.

Fig. 1

Histological appearance of rectal low-grade neuroendocrine tumor. (A) Hematoxylin and Eosin (H&E) microscopic appearance of the rectal mass demonstrates nests of neoplastic cells in the submucosa. (B) Immunohistochemical staining for neuroendocrine markers Synaptophysin (not shown) and Chromogranin (CG). (C) Immunohistochemical staining found a low Ki67 labeling index, indicating a well-differentiated tumor. Histology images were taken at 400×.

Fig. 2

CT images of gastrointestinal stromal tumor and liposarcoma. (A) Coronal image through the abdomen demonstrates an infiltrative mixed soft tissue and fat density mass (white arrows). As well, a discrete enhancing nodule within an adjacent loop of jejunum (small black arrows) was observed. (B) Axial image through the abdomen demonstrates the same mixed soft tissue and fat density infitrative tumor anterior to the superior mesenteric artery (white arrows). (C) Enhancing small nodule (black arrow) within wall of bowel.

Fig. 3

Histological appearance of well-differentiated liposarcoma of the small bowel mesentery. Adipocytes of varying sizes contain spindle cells with large deeply stained nuclei. (A) Hematoxylin and Eosin (H&E) histology illustrate fibrous tissue with myxoid degeneration and floret-like giant cells. (B) Immunohistochemistry was partially positive for S100 staining. Histology images were taken at 100× and 400×.

Fig. 4

Histological appearance of the gastrointestinal tumor (GIST) from the small bowel. (A) Hematoxylin and Eosin (H&E) staining demonstrated demonstrated spindled to epithelioid cells with eosinophilic cytoplasm and variably hyalinized stroma and skenoid fibers. Immunohistochemistry found positive (B) CD117 (CKIT) and (C) DOG1 staining. Histology images were taken at 400×.