Transient juvenile myelomonocytic leukemia in the setting of PTPN11 mutation and Noonan syndrome with secondary development of monosomy 7

被引：17

作者：

O'Halloran, Katrina ^{[1
]}

Ritchey, A. Kim ^{[2
]}

Djokic, Miroslav ^{[3
]}

Friehling, Erika ^{[2
]}

机构：

[1] UPMC, Dept Pediat, Residency Program, Childrens Hosp Pittsburgh, Pittsburgh, PA USA

[2] UPMC, Div Hematol Oncol, Childrens Hosp Pittsburgh, Pittsburgh, PA USA

[3] Univ Pittsburgh, Med Ctr, Dept Pathol, Pittsburgh, PA USA

来源：

PEDIATRIC BLOOD & CANCER | 2017年 / 64卷 / 07期

关键词：

JMML; monosomy; 7; Noonan syndrome; ACUTE MYELOID-LEUKEMIA; PROGNOSTIC SCORING SYSTEM; MYELODYSPLASTIC SYNDROMES; SOMATIC MUTATIONS; CHILDHOOD; CHILDREN; NEOPLASMS; SPECTRUM; JMML;

D O I：

10.1002/pbc.26408

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Juvenile myelomonocytic leukemia (JMML) is a rare childhood neoplasm with poor prognosis except in the setting of Noonan syndrome, where prognosis is generally favorable. We present the case of a child with JMML in the setting of germline PTPN11 mutation and Noonan syndrome with suspected secondary development of monosomy 7 in the bone marrow. Diagnosed shortly after birth, she has been managed with active surveillance alone. Myeloblast percentages initially fluctuated; however, bone marrow biopsy at 4 years of age showed spontaneous remission despite persistence of the monosomy 7 clone, supporting a cautious approach in similar cases.

引用

页数：4

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