Fiechter Jay G, Johnson Christopher, Bryant Justin, McCollom Joseph, Zhang Richard
Orthopedics, Indiana University School of Medicine, Fort Wayne, USA.
Orthopedic Oncology, Orthopaedics Northeast, Fort Wayne, USA.
Cureus. 2024 Nov 22;16(11):e74241. doi: 10.7759/cureus.74241. eCollection 2024 Nov.
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.
我们介绍了一种多学科方法来治疗起源于枕肌的神经营养性受体酪氨酸激酶3(NTRK3)软组织肉瘤(STS)。NTRK3是一种最近才通过下一代测序在STS中描述的突变,很少与STS相关。目前,指导治疗的文献有限。本病例展示了一种利用多学科团队和独特的带毛发头皮重建的成功治疗方案。据我们所知,这是第一例显示起源于枕肌的NTRK3突变STS的病例报告。在广泛的R0切除术后分阶段进行带毛发组织扩张以重建头皮缺损是一种具有挑战性的重建方法。我们介绍了一例40岁女性的临床经验,该女性患有起源于枕肌并累及头皮的NTRK3突变STS。通过骨与软组织病理学家对穿刺活检标本进行分析后诊断为低级别肉瘤,其含有具有钙调蛋白同源性和卷曲螺旋结构域1样(SPECC1L)-NTRK3融合转录本。患者接受了骨科肿瘤手术和颅面微血管整形手术进行R0切除。后者通过带毛发组织扩张进行分阶段重建。在初次手术后18个月,未检测到复发性疾病,带毛发的重建完全愈合,疤痕隐匿。该病例是一种针对含有SPECC1L-NTRK3融合转录本的低级别STS的成功治疗方法。关于低级别NTRK3突变STS的治疗指导,发表文献很少。该病例突出了STS多学科治疗的重要性。