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

被引：2

作者：

Hoshino, Yuki ^{[1
]}

Moriya, Kunihiko ^{[1
,4
]}

Mitsui-Sekinaka, Kanako ^{[1
]}

Hashimoto, Yu ^{[1
]}

Nakayama, Satoshi ^{[2
]}

Sajiki, Daichi ^{[3
]}

Muramatsu, Hideki ^{[3
]}

Hagiwara, Hidetoshi ^{[1
]}

Suzuki, Shuichi ^{[1
]}

Sekinaka, Yujin ^{[1
]}

Wakamatsu, Hajime ^{[1
]}

Kawaguchi, Hiroyuki ^{[1
]}

Imai, Kohsuke ^{[1
]}

机构：

[1] Natl Def Med Coll, Dept Pediat, Saitama, Japan

[2] Natl Def Med Coll, Dept Lab Med, Saitama, Japan

[3] Nagoya Univ, Grad Sch Med, Dept Pediat, Nagoya, Aichi, Japan

[4] Natl Def Med Coll, Dept Pediat, 3-2 Namiki, Saitama 3598513, Japan

来源：

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2024年 / 46卷 / 02期

关键词：

Noonan syndrome; myeloproliferative disorder; neonatal onset; JUVENILE MYELOMONOCYTIC LEUKEMIA; PTPN11; MUTATIONS; MANAGEMENT; INFANT;

D O I：

10.1097/MPH.0000000000002803

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页码：e176 / e179

页数：4

共 18 条

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