Case reports highlight identical PTPN11 mutations in JMML diagnosed after in utero thiopurine chemotherapy exposure, suggesting implications for prenatal care.
Juvenile myelomonocytic leukemia (JMML) is a rare pediatric malignancy without defined environmental triggers. We report two cases of JMML with identical somatic PTPN11 mutations in children exposed in utero to thiopurine‐containing chemotherapy. One mother underwent antileukemic treatment including thioguanine during early pregnancy; the other received 6‐mercaptopurine for Crohn's disease throughout gestation. Both children were diagnosed with JMML at 34 and 37 months, respectively, with pathogenic PTPN11 exon 3 (c.226G>A, p.E76K) mutation. Each underwent allogeneic hematopoietic stem cell transplantation and is currently in remission. These findings suggest a possible link between prenatal thiopurine exposure and leukemogenesis.
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Ussowicz et al. (2025) studied this question.
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