Svojgr Karel, Sumerauer David, Puchmajerova Alena, Vicha Ales, Hrusak Ondrej, Michalova Kyra, Malis Josef, Smisek Petr, Kyncl Martin, Novotna Drahuse, Machackova Eva, Jencik Jan, Pycha Karel, Vaculik Miroslav, Kodet Roman, Stary Jan
Department of Pediatric Hematology and Oncology, Charles University in Prague, Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Department of Pediatric Hematology and Oncology, Charles University in Prague, Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Eur J Med Genet. 2016 Mar;59(3):152-7. doi: 10.1016/j.ejmg.2015.11.013. Epub 2015 Dec 2.
Fanconi anemia, complementation group D1 with bi-allelic FANCD1 (BRCA2) mutations, is a very rare genetic disorder characterized by early onset of childhood malignancies, including acute leukemia, brain cancer and nephroblastoma. Here, we present a case report of a family with 3 affected children in terms of treatment outcome, toxicity and characterization of the malignancies using comprehensive cytogenetic analysis. The first child was diagnosed with T-cell acute lymphoblastic leukemia when he was 11 months old. During chemotherapy, he suffered from repeated pancytopenia, sepsis and severe vincristine polyneuropathy, and 18 months after primary diagnosis, he succumbed to secondary acute monocytic leukemia. The second child was diagnosed with stage 2 triphasic nephroblastoma (Wilms tumor), when he was 3 years and 11 months old. During chemotherapy, he suffered from vincristine polyneuropathy. Currently, he is in complete remission, 29 months following the initial diagnosis. The third child was diagnosed with medulloblastoma with classical histology, when she was 4 years and 5 months old. After the first cycle of chemotherapy, she suffered from prolonged pancytopenia, sepsis and severe skin and mucosal toxicity. Six weeks after primary diagnosis, a first relapse in the posterior fossa was diagnosed, and at 7 and half months after primary diagnosis, a second relapse was diagnosed that led to the patient's death. Our case report underscores tumor heterogeneity, treatment toxicity and poor outcome in Fanconi anemia patients of complementation group D1.
范可尼贫血，互补组D1伴有双等位基因FANCD1（BRCA2）突变，是一种非常罕见的遗传性疾病，其特征为儿童期恶性肿瘤发病早，包括急性白血病、脑癌和肾母细胞瘤。在此，我们报告一例有3名患病儿童的家庭病例，涉及治疗结果、毒性以及使用综合细胞遗传学分析对恶性肿瘤的特征描述。第一个孩子11个月大时被诊断为T细胞急性淋巴细胞白血病。化疗期间，他反复出现全血细胞减少、败血症和严重的长春新碱多发性神经病，初诊18个月后，死于继发性急性单核细胞白血病。第二个孩子3岁11个月大时被诊断为2期三相肾母细胞瘤（威尔姆斯瘤）。化疗期间，他患有长春新碱多发性神经病。目前，初诊29个月后，他处于完全缓解状态。第三个孩子4岁5个月大时被诊断为具有经典组织学特征的髓母细胞瘤。第一个化疗周期后，她出现长时间的全血细胞减少、败血症以及严重的皮肤和黏膜毒性。初诊六周后，诊断为后颅窝首次复发，初诊7个半月后，诊断为第二次复发，导致患者死亡。我们的病例报告强调了互补组D1范可尼贫血患者的肿瘤异质性、治疗毒性和不良预后。
