MonoMAC syndrome patient developing myelodysplastic syndrome following persistent EBV infection

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  • YAMAMOTO Hideyuki
    Department of Hematology and Oncology, Nagoya University Graduate School of Medicine
  • HATTORI Hikaru
    Department of Hematology and Oncology, Nagoya University Graduate School of Medicine Department of Medical Technique, Nagoya University Hospital
  • TAKAGI Erina
    Department of Hematology and Oncology, Nagoya University Graduate School of Medicine
  • MORISHITA Takanobu
    Department of Hematology and Oncology, Nagoya University Graduate School of Medicine
  • ISHIKAWA Yuichi
    Department of Hematology and Oncology, Nagoya University Graduate School of Medicine
  • TERAKURA Seitaro
    Department of Hematology and Oncology, Nagoya University Graduate School of Medicine
  • NISHIDA Tetsuya
    Department of Hematology and Oncology, Nagoya University Graduate School of Medicine
  • ITO Yoshinori
    Department of Pediatrics, Nagoya University Graduate School of Medicine
  • MURATA Makoto
    Department of Hematology and Oncology, Nagoya University Graduate School of Medicine
  • KIYOI Hitoshi
    Department of Hematology and Oncology, Nagoya University Graduate School of Medicine

Bibliographic Information

Other Title
  • 持続するEBウイルス感染後に骨髄異形成症候群を発症したMonoMAC症候群
  • 症例報告 第6回日本血液学会東海地方会 会長推薦演題 持続するEBウイルス感染後に骨髄異形成症候群を発症したMonoMAC症候群
  • ショウレイ ホウコク ダイ6カイ ニホン ケツエキ ガッカイ トウカイ チホウカイ カイチョウ スイセン エンダイ ジゾク スル EB ウイルス カンセン ゴ ニ コツズイイケイセイ ショウコウグン オ ハッショウ シタ MonoMAC ショウコウグン

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Description

<p>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.</p>

Journal

  • Rinsho Ketsueki

    Rinsho Ketsueki 59 (3), 315-322, 2018

    The Japanese Society of Hematology

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