Browsing by Subject "NTRK3 mutation"

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    Orthoplastic Approach to the Treatment and Reconstruction of a Neurotrophic Receptor Tyrosine Kinase Type 3 Soft Tissue Sarcoma Arising From the Occipitalis Muscle
    (Springer Nature, 2024-11-22) Fiechter, Jay G.; Johnson, Christopher; Bryant, Justin; McCollom, Joseph; Zhang, Richard; Orthopaedic Surgery, School of Medicine
    We present a multidisciplinary approach to the treatment of a neurotrophic receptor tyrosine kinase type 3 (NTRK3) soft tissue sarcoma (STS), arising from the occipitalis muscle. NTRK3 is a mutation only recently described in STS using next-generation sequencing and is rarely implicated in STS.Currently, there is limited literature to guide care. This case demonstrates a successful treatment option utilizing a multidisciplinary team and unique reconstruction with a hair-bearing scalp. To the best of our knowledge, this is the first case report showing an NTRK3 mutation STS arising from the occipitalis muscle. The utilization of staged hair-bearing tissue expansion post-wide R0 resection to reconstruct the scalp defect is a challenging reconstruction method. We present a single clinical experience discussing a 40-year-old female with an NTRK3 mutation STS arising from the occipitalis muscle and involving the scalp. The diagnosis was made after the analysis of a punch biopsy specimen by a bone and soft tissue pathologist as a low-grade sarcoma harboring a sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L)-NTRK3 fusion transcript. The patient underwent R0 resection by orthopedic oncology surgery and craniofacial microvascular plastic surgery. Staged reconstruction via hair-bearing tissue expansion was performed by the latter. Eighteen months after the index procedure, no recurrent disease was detected, and the hair-bearing reconstruction was fully healed with well-concealed scars. This case is a successful treatment method for a low-grade STS harboring a SPECC1L-NTRK3 fusion transcript. There is little published literature to guide care for low-grade NTRK3 mutation STS. This case highlights the importance of multidisciplinary care for STS.