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

Autor:	Hoshino Y; Departments of Pediatrics., Moriya K; Departments of Pediatrics., Mitsui-Sekinaka K; Departments of Pediatrics., Hashimoto Y; Departments of Pediatrics., Nakayama S; Laboratory Medicine, National Defense Medical College, Saitama., Sajiki D; Department of Pediatrics, Nagoya University Graduate School of Medicine, Aichi, Japan., Muramatsu H; Department of Pediatrics, Nagoya University Graduate School of Medicine, Aichi, Japan., Hagiwara H; Departments of Pediatrics., Suzuki S; Departments of Pediatrics., Sekinaka Y; Departments of Pediatrics., Wakamatsu H; Departments of Pediatrics., Kawaguchi H; Departments of Pediatrics., Imai K; Departments of Pediatrics.
Jazyk:	angličtina
Zdroj:	Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2024 Mar 01; Vol. 46 (2), pp. e176-e179. Date of Electronic Publication: 2023 Dec 22.
DOI:	10.1097/MPH.0000000000002803
Abstrakt:	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. Competing Interests: The authors declare no conflict of interest. (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)
Databáze:	MEDLINE
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