Progressive Langerhans Cell Histiocytosis in an Infant with Klinefelter Syndrome Successfully Treated with Allogeneic Bone Marrow Transplantation
Progressive Langerhans Cell Histiocytosis in an Infant with Klinefelter Syndrome Successfully Treated with Allogeneic Bone Marrow Transplantation
复制标题
同种异体骨髓移植成功治疗患有克兰费尔特综合征婴儿的进行性朗格汉斯细胞组织细胞增多症
DOI：
--
复制
发表时间：
1996
期刊：
影响因子：
--
通讯作者：
S. Wiersma
中科院分区：
文献类型：
--
作者：
J. Frost;S. Wiersma
目的：我们描述了一例用异基因骨髓移植（BMT）成功治疗进行性朗格汉斯细胞组织细胞增生症（LCH）的婴儿，并讨论了在其LCH受累组织中发现的染色体异常。病人和方法一个4个月大的男婴与脂溢性出现皮疹，呼吸衰竭，自发性气胸。LCH被诊断为皮肤和肺原发性受累。尽管进行了包括大剂量甲基强的松龙、长春碱、环磷酰胺、甲氨蝶呤、2-氯脱氧腺苷和依托泊苷在内的积极的多药化疗，他的疾病仍在进展。结果该患者于16个月时接受清髓性骨髓清除和低剂量全身照射，随后进行异基因骨髓移植，治疗成功，当时他有多系统受累。100%的47 XXY/14 p+细胞从肺活检中鉴定出来;外周血染色体分析显示嵌合体47 XXY/14 p+和正常46 XY。结论同种异体骨髓移植可成功用于治疗婴儿难治性、进展性LCH，这些婴儿死亡风险最高。Klinefelter综合征和LCH之间的细胞遗传学关联以前没有被描述过。其他LCH患者的细胞遗传学分析可能有助于确定LCH与Klinefelter综合征和/或14号染色体异常之间的遗传关联。
Purpose We describe successful treatment of an infant with progressive Langerhans cell histiocytosis (LCH) with allogeneic bone marrow transplantation (BMT), and discuss a chromosomal abnormality discovered in his LCH-affected tissue. Patients and Methods A 4-month-old male infant with a seborrheic-appearing rash, respiratory collapse, and spontaneous pneumothorax is presented. LCH was diagnosed with primary involvement of skin and lungs. His disease progressed despite aggressive multiagent chemotherapy that included high-dose methylprednisolone, vinblastine, eyclophosphamide, mcthotrexate, 2-chlorodeoxyadenosine, and etoposide. Results The patient was successfully treated with myeloablative therapy and low-dose total body irradiation followed by allogeneic BMT at the age of 16 months, at which time he had multisystem involvement. One hundred percent 47XXY/14p+ cells were identified from a lung biopsy; peripheral blood chromosomal analysis demonstrated mosaic 47XXY/14p+, and normal 46XY. Conclusions Allogeneic BMT may be used successfully in the treatment of refractory, progressive LCH in infants, who are at highest risk of mortality. The cytogenetic association between Klinefelter syndrome and LCH has not been described previously. Cytogenetic analysis of other patients with LCH may be beneficial in determining a genetic association between LCH and Klinefelter syndrome and/or abnormalities of chromosome 14.
骨髓移植治疗多系统进行性朗格汉斯细胞组织细胞增多症。
影响因子：
4.8
作者：
Greinix,HT;Storb,R;Sanders,JE;Petersen,FB
通讯作者：
Petersen,FB