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一名一岁女童被诊断为JAK2-V617F突变阳性骨髓增殖性肿瘤后继发急性髓系白血病

Secondary Acute Myeloid Leukemia in a One-Year-Old Girl Diagnosed with JAK2-V617F Mutation Positive Myeloproliferative Neoplasm.

作者信息

Woods Gary M, Bajwa Rajinder P S, Kahwash Samir B, Guinipero Terri

机构信息

Department of Hematology/Oncology/BMT, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.

Department of Hematology/Oncology/BMT, Nationwide Children's Hospital, The Ohio State University, 700 Children's Drive, Columbus, OH 43205, USA.

出版信息

Case Rep Med. 2014;2014:473297. doi: 10.1155/2014/473297. Epub 2014 Mar 18.

DOI:10.1155/2014/473297
PMID:24744787
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3976921/
Abstract

Myeloproliferative neoplasms (MPNs) are a group of clonal disorders characterized by hyperproliferation of hematologic cell lines and have been associated with tyrosine kinase JAK2-V617F mutations. Secondary acute myeloid leukemia (sAML) is a known complication of JAK2-V617F+ MPNs and bears a poor prognosis. Although the evolution of a JAK2-V617F+ MPN to a mixed-lineage leukemia has been reported in the pediatric population, no evolutions into sAML have been described. We present a case of a one-year-old girl diagnosed with JAK2-V617F+ MPN with evolution into sAML. Despite initial morphologic remission, she eventually relapsed and succumbed to her disease.

摘要

骨髓增殖性肿瘤（MPNs）是一组以血液细胞系过度增殖为特征的克隆性疾病，并且与酪氨酸激酶JAK2-V617F突变有关。继发性急性髓系白血病（sAML）是JAK2-V617F阳性MPNs的一种已知并发症，预后较差。尽管在儿科人群中已有报道JAK2-V617F阳性MPN演变为混合谱系白血病，但尚无演变为sAML的相关描述。我们报告一例1岁女孩，诊断为JAK2-V617F阳性MPN并演变为sAML。尽管最初获得形态学缓解，但她最终复发并死于该疾病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4107/3976921/22bbc28a85df/CRIM2014-473297.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4107/3976921/31759a69d994/CRIM2014-473297.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4107/3976921/22bbc28a85df/CRIM2014-473297.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4107/3976921/31759a69d994/CRIM2014-473297.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4107/3976921/22bbc28a85df/CRIM2014-473297.002.jpg

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本文引用的文献

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JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia.JAK2突变1849G>T在急性白血病中罕见，但可在慢性粒-单核细胞白血病、费城染色体阴性慢性髓性白血病和巨核细胞白血病中发现。
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