Kübra Aslan, Hatice Beyza Akkan, Fırat Özçelik, Kerem Kökoğlu, Alper Özcan, Can Acıpayam, Ayşenur Paç Kısaarslan, Benhur Şirvan Çetin, Özlem Canöz, Munis Dündar, Halit Canatan, Ekrem Ünal
Trends in Pediatrics - 2025;6(4):279-283
Juvenile myelomonocytic leukemia (JMML) is a childhood hematological cancer that often results from mutations in the PTPN11 gene. This study aims to report an original proband with JMML, COVID-19, HLH, and mucormycosis phenotypes. In JMML patients, secondary HLH associated with SARS-CoV-2 and mucor infection has not been reported in the literature. We identified a missense variant c.226G>C (p. Glu76Gln) (NM_001330437) in PTPN11. The patient suffered from SARS-CoV-2-related secondary Hemophagocytic lymphohistiocytosis (HLH) and mucormycosis in the right eye and the synoidal ethmoidal sinuses, which eventually led to the patient's death due to cardiopulmonary arrest. We report a child with JMML complicated with COVID-19-related secondary HLH and mucormycosis, which underlines the need for effective and urgent treatment to reduce further mortalities.
