Cancer and Blood Disorders Institute, Johns Hopkins All Children's Hospital, St Petersburg, FL.
J Pediatr Hematol Oncol. 2021 Apr 1;43(3):e426-e428. doi: 10.1097/MPH.0000000000001740.
Juvenile myelomonocytic leukemia (JMML) typically requires allogeneic hematopoietic cell transplantation with full donor chimerism for cure. Certain genetic subtypes, including JMML due to germline mutations in CBL, can have a more indolent course. We describe a young male patient with CBL-related JMML who experienced primary graft failure after allogeneic hematopoietic cell transplantation. Despite autologous recovery, the resulting hematopoietic tissue did not harbor the original homozygous CBL mutations, due to reversion of prior loss of heterozygosity of the 11q chromosomal region. The patient remains disease free without further leukemia-directed therapy.
儿童粒单核细胞白血病（JMML）通常需要异体造血细胞移植并实现完全供者嵌合才能治愈。某些遗传亚型，包括由 CBL 种系突变引起的 JMML，可能具有更惰性的病程。我们描述了一例 CBL 相关 JMML 的年轻男性患者，该患者在异体造血细胞移植后发生原发性移植物失败。尽管自体恢复，但由于 11q 染色体区域先前杂合性丢失的逆转，产生的造血组织中不再存在原始纯合 CBL 突变。该患者无需进一步的白血病靶向治疗，疾病仍处于缓解状态。
