{Reference Type}: Review
{Title}: Noonan Syndrome-related Myeloproliferative Disorder Occurring in the Neonatal Period: Case Report and Literature Review.
{Author}: Hoshino Y;Moriya K;Mitsui-Sekinaka K;Hashimoto Y;Nakayama S;Sajiki D;Muramatsu H;Hagiwara H;Suzuki S;Sekinaka Y;Wakamatsu H;Kawaguchi H;Imai K;
{Journal}: J Pediatr Hematol Oncol
{Volume}: 46
{Issue}: 2
{Year}: 2024 03 1
{Factor}: 1.17
{DOI}: 10.1097/MPH.0000000000002803
{Abstract}: 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.