Almanaseer I Y, Trujillo Y P, Taxy J B, Okuno T
Am J Clin Pathol. 1984 Sep;82(3):349-53. doi: 10.1093/ajcp/82.3.349.
Rhabdomyosarcoma presenting as a systemic disease is rare. This report concerns a 12-year-old girl who came to medical attention for what was thought to be a hematologic malignancy. Diffuse lytic bone lesions and large primitive cells in the bone marrow exhibiting erythrophagocytosis supported this diagnosis. During the course of the disease, a soft tissue mass in the region of the left ankle was removed and was a typical alveolar rhabdomyosarcoma. Retrospective review of the marrow, including electron microscopy, demonstrated that the primitive marrow cells were probably rhabdomyoblasts as well. The clinical course was a rapid downhill one in which lytic bone lesions and hypercalcemia were prominent. Although rhabdomyosarcoma eventually may disseminate, initial widespread disease without a clinically apparent primary can be a diagnostic dilemma. This clinical presentation, in combination with the recognized aggressiveness of the alveolar histologic subtype, identifies a rare subgroup of patients with rapidly fatal disease.
以全身性疾病形式出现的横纹肌肉瘤很罕见。本报告涉及一名12岁女孩，她因被认为是血液系统恶性肿瘤而就医。弥漫性溶骨性骨病变以及骨髓中出现的显示红细胞吞噬现象的大原始细胞支持了这一诊断。在疾病过程中，左踝区域的一个软组织肿块被切除，病理显示为典型的肺泡状横纹肌肉瘤。对骨髓进行回顾性检查，包括电子显微镜检查，发现原始骨髓细胞可能也是横纹肌母细胞。临床病程呈快速恶化，溶骨性骨病变和高钙血症较为突出。虽然横纹肌肉瘤最终可能会发生转移，但最初表现为广泛病变且无明显临床原发灶的情况可能会造成诊断困境。这种临床表现，再加上公认的肺泡组织学亚型的侵袭性，确定了一组患有快速致命疾病的罕见患者亚群。
