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The Desmoid Tumor Research Foundation

August 2018

Recurrent desmoid-type fibromatosis associated with underlying neuromuscular choristoma.

Author Information

Stone JJ(1), Prasad NK(1), Laumonerie P(1)(2), Howe BM(3), Amrami KK(3), Carter JM(4), Jentoft ME(4), Spinner RJ(1).

(1)Dept of Neurologic Surgery, Mayo Clinic, Rochester, Minnesota. (2)Dept of Orthopaedic Surgery, Hôpital Pierre Paul Riquet, Toulouse, France. (3)Dept of Radiology, Mayo Clinic, Rochester, Minnesota; and. (4)Dept of Laboratory Medicine & Pathology, Mayo Clinic, Rochester, Minnesota.

Publication

J Neurosurg

Summary

In this study, the authors introduce the association of an occult neuromuscular choristoma (NMC) identified in patients with DTF. The authors performed a retrospective database review of all other cases of biopsy-proven DTF involving the extremities or limb girdles in patients with available MRI data. Two musculoskeletal radiologists with expertise in peripheral nerve imaging reviewed the MRI studies of the eligible cases for evidence of previously unrecognized NMC. The database review yielded 40 patients with DTF-18 (45%) in the upper limb and 22 (55%) in the lower limb. Two cases (5%) had MRI findings of NMC associated with the DTF, one in the proximal sciatic nerve and the other in the proximal tibial and sural nerves. The coexistence of NMC may be under-recognized in a subset of patients with extremity DTF. This finding poses implications for DTF treatment and the likelihood of recurrence after resection or biopsy. Further study may reveal crucial links between the pathogenesis of NMC and DTF and offer novel therapeutic strategies.

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