Mariani Rachel A, Silva Mercedes, Caparelli Edward, Jennings Lawrence J, Yap Kai Lee, Leuer Katrin M, Weinstein Joanna, Gong Shunyou
Departments of Pathology and Laboratory Medicine.
Pediatrics, Division of Hematology, Oncology, and Stem Cell Transplantation, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
J Pediatr Hematol Oncol. 2020 May;42(4):e258-e261. doi: 10.1097/MPH.0000000000001572.
T-cell therapy-related acute lymphoblastic leukemia (T-t-ALL) is a rare condition associated with previous cytotoxic therapy for another disease. Here we report T-t-ALL with inv(11)(q21q23), which involves KMT2A and MAML2, a transcriptional coactivator of NOTCH proteins, that occurred after chemotherapy for Philadelphia chromosome-positive B-cell acute lymphoblastic leukemia. This case describes the youngest patient with T-t-ALL harboring inv(11)(q21q23) and is the first independent report following an initial series also occurring in children. Our results lend further support to the observation that the KMT2A-MAML2 fusion gene resulting from inv(11)(q21q23) is likely a recurrent cytogenetic abnormality in T-t-ALL and appears to be associated with pediatric cases.
T细胞疗法相关的急性淋巴细胞白血病（T-t-ALL）是一种罕见疾病，与先前针对另一种疾病的细胞毒性疗法有关。我们在此报告1例inv(11)(q21q23)的T-t-ALL，该异常涉及KMT2A和MAML2，后者是NOTCH蛋白的转录共激活因子，此病例发生于费城染色体阳性B细胞急性淋巴细胞白血病化疗之后。该病例描述了最年轻的携带inv(11)(q21q23)的T-t-ALL患者，也是继最初一系列同样发生于儿童的病例后的首例独立报告。我们的结果进一步支持了以下观察结果：inv(11)(q21q23)产生的KMT2A-MAML2融合基因可能是T-t-ALL中一种复发性细胞遗传学异常，且似乎与儿科病例相关。
