Familial neuroblastoma: report of a kindred with later age at diagnosis.
Familial neuroblastoma: report of a kindred with later age at diagnosis.
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家族性神经母细胞瘤：诊断时年龄较晚的亲属的报告。
DOI：
10.1097/00043426-199809000-00017
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发表时间：
1998
期刊：
影响因子：
--
通讯作者：
Yanofsky,RA
中科院分区：
文献类型：
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作者：
Lemire,EG;Chodirker,BN;Williams,GJ;Seargeant,LE;Israels,SJ;Phillips,SM;deNanassy,JA;Maris,JM;Yanofsky,RA
目的：描述两个兄弟姐妹和他们的母亲二堂兄弟的神经母细胞瘤（NB）的临床和生物学特征。患者和方法：NB在2 1/2（患者2）和5（患者3）岁时被诊断为兄弟姐妹。他们的表弟（患者1）7岁时被诊断出患有NB。标准的临床和生物学数据，肿瘤核型，肿瘤等位基因在选择locus.Results：患者1有国际神经母细胞瘤分期系统（INSS）阶段4 NB和不利的组织学，但没有证据的MYCN扩增，她死于并发症自体骨髓移植在第二缓解。患者2患有INSS 4期NB，具有不利的组织学，但没有MYCN扩增;她的疾病在完成治疗后39个月复发。患者3 INSS阶段1 NB与良好的生物学特征，他与手术切除治疗，仍然免费的diseases.Conclusions：家族性NB可能发生在一个较晚的年龄比预测的肿瘤抑制基因模型的遗传性癌症。本报告进一步强调了家族性NB的临床和生物学异质性。
Purpose: To describe the clinical and biologic features of neuroblastoma (NB) in two siblings and their maternal second cousin. Patients and Methods: NB was diagnosed in the siblings at 2 1/2 (patient 2) and 5 (patient 3) years of age. NB was diagnosed in their maternal second cousin (patient 1) when she was 7 years old. Standard clinical and biological data, tumor karyotype, and tumor allelotype at select loci were obtained.Results: Patient 1 had International Neuroblastoma Staging System (INSS) stage 4 NB and unfavorable histology but no evidence of MYCN amplification; she died from complications of autologous bone marrow transplantation in second remission. Patient 2 had INSS stage 4 NB with unfavorable histology but no MYCN amplification; her disease recurred 39 months after completing therapy. Patient 3 had INSS stage 1 NB with favorable biologic features; he was treated with surgical excision and remains free of disease.Conclusions: Familial NB may occur at a later age than predicted by the tumor suppressor gene model of inherited cancer. This report further emphasizes the clinical and biological heterogeneity of familial NB.