Bohn Olga L, Whitten Joseph, Spitzer Barbara, Kobos Rachel, Prockop Susan, Boulad Farid, Arcila Maria, Wang Lu, Teruya-Feldstein Julie
1Memorial Sloan-Kettering Cancer Center, New York, NY, USA.
Int J Surg Pathol. 2013 Oct;21(5):520-5. doi: 10.1177/1066896912468214. Epub 2012 Dec 5.
Dyskeratosis congenita (DC) is a rare inherited disorder characterized by bone marrow failure and cancer predisposition. We present a case of a 28-year-old woman with DC who was admitted for hematopoietic stem cell transplantation (HSCT) for aplastic anemia and who developed acute myeloid leukemia with complex genetic karyotype abnormalities including the MLL (11q23) gene, 1q25, and chromosome 8. After transplantation, a monomorphic Epstein-Barr virus (EBV) negative posttransplant-associated lymphoproliferative disorder (PTLD) diffuse large B-cell lymphoma was discovered involving the liver, omental tissue, and peritoneal fluid samples showing additional MLL (11q23) gene abnormalities by fluorescence in situ hybridization. Despite treatment, the patient died of complications associated with transplantation and invasive fungal infection. This case represents the first bona fide documented case of EBV-negative monomorphic PTLD host derived, with MLL gene abnormalities in a patient with DC, and shows another possible mechanism for the development of a therapy-related lymphoid neoplasm after transplantation.
先天性角化不良（DC）是一种罕见的遗传性疾病，其特征为骨髓衰竭和癌症易感性。我们报告一例28岁患有DC的女性病例，该患者因再生障碍性贫血入院接受造血干细胞移植（HSCT），并发展为急性髓系白血病，伴有包括MLL（11q23）基因、1q25和8号染色体在内的复杂遗传核型异常。移植后，发现一种单形性EB病毒（EBV）阴性的移植后相关淋巴组织增生性疾病（PTLD）弥漫性大B细胞淋巴瘤，累及肝脏、网膜组织和腹腔积液样本，通过荧光原位杂交显示存在额外的MLL（11q23）基因异常。尽管进行了治疗，患者仍死于与移植相关的并发症和侵袭性真菌感染。该病例是首例有确凿记录的源自宿主的EBV阴性单形性PTLD病例，患者为DC且存在MLL基因异常，显示了移植后治疗相关淋巴肿瘤发生的另一种可能机制。
