Large desmoid tumors in familial adenomatous polyposis: a successful outcome.

Vítor Devezas,Rosa Ramalho,José Costa Maia,Laura Elisabete Barbosaa,Cristina Sarmento

doi:10.4322/acr.2018.045

Vítor Devezas, Rosa Ramalho + Show 3 more

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https://doi.org/10.4322/acr.2018.045

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Abstract

Desmoid tumors develop from connective tissue, fasciae, and aponeuroses, and may occur in the context of familial adenomatous polyposis or may arise sporadically; also, they may be extra-abdominal, intra-abdominal, or located in the abdominal wall. These benign tumors have a great aggressiveness with a high rate of local recurrence. Familial adenomatous polyposis is an inherited condition with autosomal dominant transmission, and is characterized by the development of multiple colonic and rectal adenomatous polyps, as well as desmoid tumors. We present the case of a 54-year-old woman with germline APC gene mutation, who underwent a total colectomy, subsequently developing two large infiltrative solid intra-abdominal lesions consistent with desmoid tumors. Medical treatment with Cox-2 inhibitors was initiated without result. She was submitted to resection for intestinal obstruction, but developed local recurrence. The lesions were also unresponsive to tamoxifen, and chemotherapy was initiated with dacarbazine plus doxorubicin, switching to vinorelbine plus methotrexate, achieving a good response in all lesions after 12 months. The approach to these intra-abdominal lesions should be progressive, beginning with observation, then a medical approach with non-steroidal anti-inflammatory drugs or with an anti-hormonal agent. Afterwards, if progression is still evident, chemotherapy should be started. Surgery should be reserved for resistance to medical treatment, in palliative situations, or for extra-abdominal or abdominal wall desmoids tumors.

Highlights

Desmoid tumors (DT) develop from connective tissue, fasciae, and aponeuroses,[1,2] corresponding to a monoclonal proliferation of well-differentiated fibroblasts.[3,4,5]. This can occur in the context of familial adenomatous polyposis (FAP), or may arise sporadically; they may be extra-abdominal, intra-abdominal, or located in the abdominal wall.[5]
The familial form of this neoplasm may occur between 10% and 25% of FAP patients and is attributed to a germline mutation in the adenomatous polyposis coli (APC) gene.[8,9]
We present the case of a 54-year-old woman with FAP in the context of germline APC mutation

Summary

INTRODUCTION

Desmoid tumors (DT) develop from connective tissue, fasciae, and aponeuroses,[1,2] corresponding to a monoclonal proliferation of well-differentiated fibroblasts.[3,4,5] This can occur in the context of familial adenomatous polyposis (FAP), or may arise sporadically; they may be extra-abdominal, intra-abdominal, or located in the abdominal wall.[5]. Due to disease progression with the appearance of new lesions (Figure 2A), the chemotherapy regimen with dacarbazine (300 mg/m2) and doxorubicin (20 mg/m2)—administered at day 1, 2, and 3, and repeated every 21 days—was approved by the Institutional Ethics Committee. This regimen was further switched, after eight cycles, to vinorelbine (25 mg/m2) and methotrexate (30 mg/m2) because of the patient’s intolerance (with myelosuppression) and the progression of the pelvic lesion—albeit with the regression of all others. There was a significant response to this last protocol—administered at day 1, 8, and 15, and repeated every 28 days—with dimensional regression of all lesions (Figure 2B) and pain resolution after 14 cycles of chemotherapy

DISCUSSION

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CONCLUSION