Division of Pediatric Hematology/Oncology, Nemours Center for Cancer and Blood Disorders, Nemours Children's Hospital - Delaware, Wilmington, Delaware, USA.
Division of Pediatrics, Nemours Children's Hospital - Delaware, Wilmington, Delaware, USA.
Pediatr Blood Cancer. 2022 Oct;69(10):e29885. doi: 10.1002/pbc.29885. Epub 2022 Jul 20.
Approximately 25% of B-cell acute lymphoblastic leukemia (B-ALL) cases are defined by hyperdiploidy, with RAS mutations occurring in 30% of hyperdiploid B-ALL patients. It is believed that hyperdiploidy is an in utero event with RAS mutations occurring postnatally, but clinical evidence of this is based on relatively few patients. We present a case of monozygotic, monochorionic twins who developed concordant hyperdiploid B-ALL with identical chromosomal gains but different RAS mutations, adding further evidence that hyperdiploidy is occurring prenatally, with RAS mutations developing postnatally. Environmental exposures were reviewed with the family without identification of a clear association.
约 25%的 B 细胞急性淋巴细胞白血病 (B-ALL) 病例为超二倍体，其中 30%的超二倍体 B-ALL 患者存在 RAS 突变。人们认为超二倍体是一种宫内事件，RAS 突变发生在出生后，但这方面的临床证据仅基于相对较少的患者。我们报告了一例同卵双胎、单绒毛膜双胞胎的病例，他们患有一致性的超二倍体 B-ALL，具有相同的染色体增益，但存在不同的 RAS 突变，这进一步证明了超二倍体是在产前发生的，RAS 突变是在出生后发生的。对这对双胞胎的家庭环境暴露情况进行了回顾，但未发现明显的关联。
