Division of Pediatric Hematology/Oncology, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York 10467, USA.
Pediatr Blood Cancer. 2011 Oct;57(4):684-7. doi: 10.1002/pbc.23026. Epub 2011 Feb 4.
Mastocytosis is primarily limited to the cutaneous variant in pediatric patients. Systemic mastocytosis (SM) has been associated with t(8;21) acute myeloid leukemia (AML) in adults. We provide the first report of a child with t(8;21) AML, diagnosed with asymptomatic SM following four cycles of chemotherapy. Unlike most adults with SM/AML, she was not found to have a c-KIT (D816V) mutation. SM persisted in the bone marrow after completion of chemotherapy, and her AML relapsed 9 months off-treatment. Although she achieved a second remission, mastocytosis persists in the marrow. Pediatric patients with t(8;21) AML/SM may represent a high-risk group despite favorable cytogenetics.
肥大细胞增多症主要局限于儿科患者的皮肤变异型。系统性肥大细胞增多症（SM）与成人的 t（8；21）急性髓系白血病（AML）有关。我们提供了首例儿童 t（8；21）AML 的报告，该患儿在化疗四个周期后诊断为无症状 SM。与大多数 SM/AML 成人不同，她没有 c-KIT（D816V）突变。化疗完成后，SM 在骨髓中持续存在，AML 在停药 9 个月后复发。尽管她再次缓解，但骨髓中的肥大细胞增多症仍持续存在。尽管细胞遗传学良好，但患有 t（8；21）AML/SM 的儿科患者可能代表一个高风险群体。
