Douglass E C, Shapiro D N, Valentine M, Rowe S T, Carroll A J, Raney R B, Ragab A H, Abella S M, Parham D M
Department of Hematology/Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Med Pediatr Oncol. 1993;21(2):83-7. doi: 10.1002/mpo.2950210202.
We describe here the clinical and pathologic features associated with a specific translocation, t(2;13), in alveolar rhabdomyosarcoma. Tumor specimens from 14 patients with a t(2;13)-positive alveolar rhabdomyosarcoma were studied for cytogenetic-clinicopathologic correlations. Three patients had occult primary tumors; nine patients had primary tumors of the trunk (mediastinal, pelvic, or rectal). The presence of the t(2;13) was ascertained from examination of tumor involved bone marrow in ten patients who had widespread metastatic disease at the time of diagnosis. Marrow involvement was so extensive in three cases that they were initially diagnosed as acute leukemia. Response to therapy was poor, with only five patients achieving a complete response. Twelve patients have died of their disease at a median survival time of 6 months from diagnosis and one is living with recurrent disease; only one patient survives free of disease.
我们在此描述与肺泡状横纹肌肉瘤中一种特定易位，即t(2;13)相关的临床和病理特征。对14例t(2;13)阳性肺泡状横纹肌肉瘤患者的肿瘤标本进行了细胞遗传学与临床病理相关性研究。3例患者有隐匿性原发性肿瘤；9例患者原发性肿瘤位于躯干（纵隔、盆腔或直肠）。在诊断时已有广泛转移性疾病的10例患者中，通过检查肿瘤累及的骨髓确定了t(2;13)的存在。3例患者的骨髓受累非常广泛，以至于最初被诊断为急性白血病。治疗反应较差，只有5例患者达到完全缓解。12例患者已死于疾病，从诊断起的中位生存时间为6个月，1例患者患有复发性疾病仍存活；只有1例患者无病存活。
