Rekhi Bharat, Qureshi Sajid Shafique, Narula Gaurav, Gujral Sumeet, Kurkure Purna
Department of Pathology, Tata Memorial Centre, Mumbai, Maharashtra, India.
Department of Surgical Oncology, Tata Memorial Centre, Mumbai, Maharashtra, India.
Pathol Res Pract. 2014 May;210(5):328-33. doi: 10.1016/j.prp.2014.02.001. Epub 2014 Feb 15.
Congenital rhabdomyosarcomas (RMSs) are rare tumors with variable clinical presentations. A 2 month-old, term male neonate (37 weeks, 4 days), weighing 3.2kg, born to a 24 year-old primigravida, by simple vaginal delivery presented with multiple erythematous papulonodular lesions over his trunk that progressed to his whole body, on the first day of delivery. Prior to conception, his mother was treated for polycystic ovarian disease. On the tenth day, his chest computed tomogram scans revealed multiple, heterogeneously enhancing, bilateral pleural-based soft tissue density nodular lesions, along with multiple soft tissue density lesions, involving skeletal muscles of all his body parts. Microsections from two biopsies (on 10th day and after 2 months) revealed a malignant round cell tumor with cells arranged in a diffuse, solid pattern, comprising embryonal and solid alveolar components. Immunohistochemically, the tumor cells were diffusely positive for desmin, myoD1 and myogenin. Diagnosis of embryonal and alveolar (mixed type) RMS was offered. Further molecular cytogenetic analysis was negative for PAX3-FKHR and PAX7-FKHR. The patient was induced on chemotherapy as per intergroup rhabdomyosarcoma study IV protocol. There was treatment response with near total remission after 8 weeks of treatment. Thereafter, new lesions started appearing that also disappeared after modification of the chemotherapy drugs. However, after 16 months, the baby died of brain metastasis. The present case forms the fourth case report of an aggressive form of a congenital RMS with extensive cutaneous involvement and brain metastasis. A review of previously diagnosed cases of congenital RMSs is discussed herewith.
先天性横纹肌肉瘤（RMS）是一种临床症状多样的罕见肿瘤。一名2个月大的足月儿男婴（37周零4天），体重3.2千克，其母亲为24岁初产妇，经阴道顺产分娩。出生第一天，患儿躯干出现多个红斑丘疹结节性病变，并蔓延至全身。患儿母亲在怀孕前曾接受多囊卵巢疾病治疗。第10天，胸部计算机断层扫描显示双侧胸膜多发、不均匀强化的软组织密度结节性病变，以及多个软组织密度病变，累及全身各部位骨骼肌。两次活检（第10天和2个月后）的切片显示为恶性圆形细胞瘤，细胞呈弥漫性实性排列，包含胚胎性和实性肺泡成分。免疫组化显示，肿瘤细胞结蛋白、肌分化抗原1（MyoD1）和肌细胞生成素呈弥漫性阳性。诊断为胚胎性和肺泡性（混合型）RMS。进一步的分子细胞遗传学分析显示，PAX3 - FKHR和PAX7 - FKHR均为阴性。根据横纹肌肉瘤国际协作组IV期研究的方案，对该患者进行了化疗诱导。治疗8周后出现治疗反应，接近完全缓解。此后，出现新的病变，在调整化疗药物后也消失了。然而，16个月后，患儿死于脑转移。本病例是第四例先天性RMS侵袭性形式的病例报告，伴有广泛的皮肤受累和脑转移。本文还讨论了对先前诊断的先天性RMS病例的回顾。
