Recurrent desmoid-type fibromatosis associated with underlying neuromuscular choristoma

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OBJECTIVE

Desmoid-type fibromatosis (DTF) presents a therapeutic dilemma. While lacking metastatic potential, it is a locally aggressive tumor with a strong propensity for occurrence near nerve(s) and recurrence following resection. In this study, the authors introduce the association of an occult neuromuscular choristoma (NMC) identified in patients with DTF.

METHODS

After experiencing a case of DTF found to have an occult NMC, 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.

RESULTS

The initial case of a patient with an occult sciatic NMC is described. 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.

CONCLUSIONS

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.

ABBREVIATIONS DTF = desmoid-type fibromatosis; LFH = lipofibromatous hamartoma; MRI = magnetic resonance imaging; NMC = neuromuscular choristoma.

Article Information

Correspondence Robert J. Spinner: Mayo Clinic, Rochester, MN. spinner.robert@mayo.edu.

INCLUDE WHEN CITING Published online August 31, 2018; DOI: 10.3171/2018.3.JNS152935.

Disclosures The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.

© AANS, except where prohibited by US copyright law.

Headings

Figures

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    Case 1. Preoperative MRI. Axial T1-weighted (A) and post-Gd (B) MR images of the proximal right thigh demonstrate an abnormal proximal sciatic nerve (arrows). The nerve is enlarged with prominent soft-tissue elements, signal intensity comparable to skeletal muscle, and no enhancement after contrast, corresponding to the expected features of NMC. Additional axial T1-weighted (C) and post-Gd fat-saturated (D) MR images from the proximal right thigh demonstrate a heterogeneous mass (arrowheads) intimately associated with the proximal sciatic nerve. The mass demonstrates heterogeneous areas of decreased T1- and T2-weighted signal intensity and post-Gd enhancement compatible with DTF.

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    Case 1. Clinical images demonstrating atrophy of the right calf (A), an asymmetrical right talipes cavus deformity (B), and the right foot shorter than the left (C). The patient was unaware of the high arch but acknowledged the long-standing foot length discrepancy. Figure is available in color online only.

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    Case 1. A: The area below the dashed line is DTF infiltrating the soft tissue, whereas the area above the dashed line is composed of mature skeletal muscle and adipose tissue with a small nerve involved by NMC (red dotted box). H & E, original magnification ×20. B and C: Desmoid-type fibromatosis with a classic histological appearance and containing aberrant nuclear localization of beta-catenin protein. H & E (B) and beta-catenin (C), original magnification ×200 (B) and ×400 (C). D–G: Magnification of the red dotted box in panel A. A small nerve (D) found in the soft tissue is within 3 mm of the DTF. Epithelial membrane antigen (E) highlights perineurium of the small nerve, and S100 protein (F) highlights the nerve fibers. Desmin (G) highlights the mature skeletal muscle within two of the nerve fascicles as well as skeletal muscle in the adjacent soft tissue. The presence of skeletal muscle intercalated within the nerve fascicles is diagnostic of an NMC. H & E (D), original magnification ×400 (D–G). Figure is available in color online only.

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    Case 1. Axial T1-weighted MR image (A) obtained at the inferior aspect of the primary mass in the upper thigh, showing the typical imaging features of NMC in the proximal sciatic nerve with nerve fascicles of varying size (arrows), some of which include soft-tissue elements with signal comparable to that for skeletal muscle. The adjacent low-signal nodular area (arrowhead) is the associated desmoid. Axial T1-weighted MR image (B) obtained distal to the popliteal fossa in the proximal calf, showing the development of an additional focus of fibromatosis (asterisk) with characteristic low signal and ill definition with infiltration of the posterior compartment musculature. Axial T1-weighted MR image (C) obtained in the distal thigh below the sciatic bifurcation but proximal to the desmoid in the calf. There are fat and soft-tissue elements associated with the tibial (T), sural (Su), and peroneal (P) nerves, indicating the presence of NMC within these nerves, in continuity with the more proximal and distal nerves.

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    Case 2. A: Preoperative axial T1-weighted MR image obtained at the upper popliteal fossa, showing fusiform enlargement of the tibial nerve with prominent soft-tissue elements (arrow) compatible with the appearance of an NMC. The nerve is posterior to a lobulated mass (asterisk) consistent with DTF, which encases the popliteal vessels (V). B: Axial T2-weighted MR image obtained at the same level; the tibial nerve (arrow) is isointense with adjacent muscle (M), characteristic of an NMC. C: Postoperative axial T1-weighted MR image with fat suppression at the level of the knee, showing encasement of the enlarged tibial (T), sural (Su), and common peroneal (P) nerves by recurrent DTF (asterisk).

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    Case 3. Preoperative axial T1-weighted MR image (A) showing right-sided inferior gluteal DTF (asterisk) posterolateral to the enlarged sciatic nerve (solid arrow). The nerve on the right side is noticeably larger than the normal left (dashed arrow). After contrast administration (B), the sciatic nerve exhibits little enhancement (solid arrow), in contrast to the DTF, which shows avid enhancement (asterisk). Subtle signal increase on an axial proton density scan with fat suppression (C) can be seen in the superior gluteal nerve (solid arrow) as it passes through the sciatic notch toward the gluteus medius and minimus.

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    Case 3. Preoperative coronal T1-weighted image (A) showing the DTF (asterisk) in the gluteus maximus adjacent to an enlarged sciatic nerve (solid arrow) and superior gluteal nerve (dotted arrow). Postoperative MRI (B–E) was performed 26 months after resection of the proximal sciatic DTF. Coronal short-tau inversion recovery (STIR) image (B) showing recurrence of the DTF (asterisk) along the course of the abnormal muscular branch, extending into the pelvis via the greater sciatic notch. Axial T2 fast spin echo (FSE) sequence (C) without fat suppression obtained at the level of the sciatic notch, showing a large heterogeneous mass extending along the sciatic nerve into the pelvis (asterisk). Coronal T1-weighted image with fat suppression after Gd contrast (D) showing two distal foci of DTF in the popliteal fossa (asterisks). Axial T1-weighted image (E) showing the DTF (asterisk) wrapping around the fibular head (F), along the course of the lateral sural cutaneous nerve (not visualized due to size of tumor).

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