Noonan Syndrome-related Myeloproliferative Disorder Occurring in the Neonatal Period: Case Report and Literature Review

• Published in: Journal of pediatric hematology/oncology Vol. 46; no. 2; p. e176
• Main Authors: Hoshino, Yuki, Moriya, Kunihiko, Mitsui-Sekinaka, Kanako, Hashimoto, Yu, Nakayama, Satoshi, Sajiki, Daichi, Muramatsu, Hideki, Hagiwara, Hidetoshi, Suzuki, Shuichi, Sekinaka, Yujin, Wakamatsu, Hajime, Kawaguchi, Hiroyuki, Imai, Kohsuke
• Format: Journal Article
• Language: English
• Published: United States 01.03.2024
• Subjects: Child; Child, Preschool; Humans; Infant, Newborn; Leukemia, Myelomonocytic, Juvenile - complications; Leukemia, Myelomonocytic, Juvenile - diagnosis; Leukemia, Myelomonocytic, Juvenile - genetics; Male; Mutation; Myeloproliferative Disorders - complications; Myeloproliferative Disorders - genetics; Noonan Syndrome - complications; Noonan Syndrome - genetics; Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics
• ISSN: 1536-3678
• DOI: 10.1097/MPH.0000000000002803

Noonan syndrome-related myeloproliferative disorder (NS/MPD) and juvenile myelomonocytic leukemia (JMML) are rare MPDs that occur in young children. We herein report a case of NS/MPD with neonatal onset. The patient had a characteristic appearance and high monocyte count in the peripheral blood and bone marrow. Genetic testing showed the E139D mutation in PTPN11 ; however, the patient did not meet all the diagnostic criteria for JMML, and we thus diagnosed him with NS/MPD. Eight other cases of NS/MPD with neonatal onset are also summarized. The initial presentation varied, and the prognosis was considered poor compared with previous reports of NS/MPD.