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Two Cases of Juvenile Myelomonocytic Leukemia With Identical Somatic PTPN11 Mutations in Children After In Utero
Marek Ussowicz1, Monika Rosa1, Monika Biedroń2
1Department of Pediatric Bone Marrow Transplantation, Oncology, and Hematology, Wroclaw Medical University, Wroclaw, Poland.
Abstract:
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.
