MonoMAC syndrome patient developing myelodysplastic syndrome following persistent EBV infection
MonoMAC syndrome patient developing myelodysplastic syndrome following persistent EBV infection
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MonoMAC 综合征患者持续 EBV 感染后出现骨髓增生异常综合征
DOI：
10.11406/rinketsu.59.315
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发表时间：
2018
期刊：
影响因子：
--
通讯作者：
Kiyoi H.
中科院分区：
文献类型：
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作者：
Yamamoto H;Hattori H;Takagi E;Morishita T;Ishikawa Y;Terakura S;Nishida T;Ito Y;Murata M;Kiyoi H.
一名18岁男子被诊断为EB病毒（EBV）相关的噬血细胞综合征（HPS），并在以前的医院接受泼尼松龙（PSL）治疗。在PSL逐渐减量期间，HPS症状再次出现，患者被转诊至我院。PSL增加改善了症状，但EBV感染仍未得到解决。20岁时，他因新发肺炎入院，经骨髓检查诊断为骨髓增生异常综合征（难治性血细胞减少伴多系发育不良）（MDS-RCMD;核型正常，IPSS：Int-1）。MDS缓解后实现骨髓移植无关的供体，他目前还活着，没有复发。患者的父亲在年轻时也被诊断出患有MDS，并在大约50岁时死于白质脑病。这些观察结果支持家族性MDS的诊断。在MDS诊断时，在骨髓和对照细胞（口腔拭子）中均发现GATA 2突变p.R230Hfs * 44，并诊断为单核细胞减少症和分枝杆菌感染（MonoMAC）综合征。此外，获得性STAG 2突变（剪接位点改变，c. 820-2A> G），可能与MDS的进展有关。
An 18-year-old man was diagnosed with Epstein-Barr virus (EBV)-associated hemophagocytic syndrome (HPS) and treated with prednisolone (PSL) at a previous hospital. During PSL tapering, the HPS symptoms reappeared, and the patient was referred to our hospital. Increased PSL improved the symptoms, but the EBV infection remained unresolved. At age 20, he was admitted to our hospital for newly developed pneumonia and diagnosed with myelodysplastic syndrome (refractory cytopenia with multilineage dysplasia)(MDS-RCMD; normal karyotype, IPSS: Int-1) by bone marrow examination. MDS remission was achieved following bone marrow transplantation from an unrelated donor, and he is currently alive without relapse. The patient's father had also been diagnosed with MDS when he was young and died from leukoencephalopathy at approximately 50 years old. These observations support a diagnosis of familial MDS. GATA2 mutation p. R230Hfs* 44 was identified in both bone marrow and control cells (buccal swab) at MDS diagnosis, and he was diagnosed with monocytopenia and mycobacterial infection (MonoMAC) syndrome. Furthermore, an acquired STAG2 mutation (splicing site change, c. 820-2A> G) in the bone marrow cells was also identified, which might contribute to MDS progression.