Marek Ussowicz, Monika Rosa, Monika Biedroń, Renata Tomaszewska, Tomasz Szczepański, Charlotte Niemeyer
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Two Cases of Juvenile Myelomonocytic Leukemia With Identical Somatic PTPN11 Mutations in Children After In Utero Exposure to Thiopurine-Containing Chemotherapy
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.
期刊介绍：
Pediatric Blood & Cancer publishes the highest quality manuscripts describing basic and clinical investigations of blood disorders and malignant diseases of childhood including diagnosis, treatment, epidemiology, etiology, biology, and molecular and clinical genetics of these diseases as they affect children, adolescents, and young adults. Pediatric Blood & Cancer will also include studies on such treatment options as hematopoietic stem cell transplantation, immunology, and gene therapy.
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