Article
Noonan Syndrome-related Myeloproliferative Disorder Occurring in the Neonatal Period: Case Report and Literature Review.
Journal of pediatric hematology/oncology - 1 Mar 2024
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
Abstract excerpt
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...
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