Rhabdomyosarcoma with Bone Marrow Infiltration: A Diagnostic Dilemma

R. Khanna, D. Nayak, C. Manohar, N. Suvarna, S. Belurkar, S. Ray, P. Srilatha
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引用次数: 3

Abstract

Rhabdomyosarcoma is the most common soft tissue sarcoma in children and adolescents. In adults, the prevalence is much lower. Most patients present with a mass in the head and neck region, urogenital region or even with distal extremity involvement. A bone marrow infiltration at the time of clinical presentation has also been documented in literature. But a simultaneous marrow infiltration can simulate a hematopoietic neoplasm, leading to diagnostic errors. We document one such challenging case of a 47 year old male patient presenting with bicytopenia. Patient was hospitalized following a referral due to a mass in the left cheek, diagnosed earlier as clear cell sarcoma. Bone marrow aspirates yielded a dry tap, with sinusoidal blood and both the aspirate as well as the imprint smear showed pleomorphic cells with vacuolated cytoplasm. The corresponding trephine biopsy showed diffuse and interstitial infiltrates of rhabdoid cells with focal areas of infarct. Considering the morphological details, a diagnosis of rhabdomyosarcoma was rendered after ruling out other possibilities. A review of the lesional biopsy with ancillary techniques eventually corroborated the bone marrow diagnosis.
横纹肌肉瘤伴骨髓浸润:诊断困境
横纹肌肉瘤是儿童和青少年中最常见的软组织肉瘤。在成人中,患病率要低得多。大多数患者表现为头颈部、泌尿生殖区甚至远端累及。在临床表现时骨髓浸润也有文献记载。但是同时发生的骨髓浸润可以模拟造血肿瘤,导致诊断错误。我们记录了这样一个具有挑战性的情况下,一个47岁的男性患者表现为自行车减少症。病人在转诊后因左脸颊肿块入院,早期诊断为透明细胞肉瘤。骨髓抽吸产生干栓,血呈正弦波,抽吸和印迹涂片均显示多形性细胞,细胞质呈液泡状。相应的穿刺活检显示横纹肌样细胞弥漫性和间质性浸润,伴有局灶性梗死区。考虑到形态学细节,排除其他可能性后,诊断为横纹肌肉瘤。病变活检和辅助技术的回顾最终证实了骨髓诊断。
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