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. 2021 Jan 13;88(4):804–811. doi: 10.1093/neuros/nyaa534

TABLE.

Clinicopathologic Features and CTNNB1 Status in Patients With NMC-DTF

CTNNB1 status
Patient Age/sex Initial clinical presentation: (NMC or NMC-DTF-related) Location of NMC and location and size of NMC-DTF (cm) NMC NMC-DTF Treatment chronology Clinical outcome (follow-up duration, yr)
1 15/F Leg length discrepancy, foot drop (NMC) Right sciatic nerve/right popliteal fossa (6.5 × 5.4 × 6.5) NA c.134 C > T p.S45F Treatment 1: cryotherapy (X 4) Local progression
Treatment 2: vinblastine and methotrexate Local progression
Treatment 3: sorafenib (with dose escalation) + cryotherapy Local progression (3 yr)
2 34/F Lower extremity pain, posterior thigh mass (NMC-DTF) Right sciatic nerve/right posterior thigh (4.7 × 4.8 × 16.2) and calf (metachronous NMC-DTF, 7.0 × 3.6 × 18.0) NA c.133 T > C p.S45P Treatment 1: surgical resection Recurrence at 8 mo
Treatment 2: tamoxifen (6 mo) Disease stable
Treatment 3: tamoxifen and NSAID Disease stable
Treatment 4: radiation therapy Primary disease stable. Second, distal NMC-DTF in the calf
Treatment 5 (metachronous NMC-DTF) capecitabine × 10 mo Radiation therapy (tomotherapy) Disease stable (6 yr)
3 20/M Enlarging popliteal mass (NMC-DTF) Left sciatic nerve/left popliteal fossa (7.6 × 8.1 × 13) NA c.134 C > T p.S45F Treatment 1: surgical resection Local progression at 9 mo
Treatment 2: radiation therapy Disease stable (1 yr)
4 51/M During w/u for hip replacement (congenital dysplasia), old foot drop (NMC) Left sciatic nerve/left sciatic notch (9.5 × 6.4 × 5.8) c.134 C > T p.S45F c.134 C > T p.S45F Observation Local progression (2 yr)
5 18/M Ankle fracture, foot drop, pain (NMC) Right sciatic nerve/right posterior mid-thigh (6.0 × 9.0 × 12.0) c.134 C > T p.S45F c.134 C > T p.S45F Treatment 1: surgical resection Recurrence at 6 mo
Treatment 2: radiation therapy (28 fractions of 5600 cGy) Disease stable (8 yr)
6 14/M Gait disturbance, leg length discrepancy, muscle atrophy (NMC) Right sciatic nerve/right posterior mid-thigh (4.6 × 4.3 × 7.1) c.134 C > T p.S45F c.134 C > T p.S45F Treatment 1: tamoxifen + sulindac × 3 mo Local progression
Treatment 2: doxorubicin (8 cycles/8 mo) Disease stable (6 yr)