演題詳細

ポスター / Poster

ポスター 14 (Poster 14) :MPN:臨床 1

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日程
2013年10月11日(金)
時間
16:50 - 17:50
会場
ポスター会場 / Poster (ロイトン札幌 3F ロイトンホールABCD)
座長・司会
藤 重夫 (Shigeo Fuji):1
1:国立がん研究センター中央病院 移植科
 
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"myeloid neoplasm with PDGFRA rearrangement" with rare chromosomal abnormality t(4;12)(q12;p13)

演題番号 : PS-1-100

吉田 全宏 (Masahiro Yoshida):1、金島 広 (Hiroshi Kanashima):1、中尾 隆文 (Takafumi Nakao):1、植田 英也 (Hideya Ueda):1、間部 賢寛 (Masahiro Manabe):2、村上 明子 (Akiko Murakami):1、玉川 信吉 (Nobuyoshi Tamagawa):1、依藤 亨 (Toru Yorifuji):1、山根 孝久 (Takahisa Yamane):1

1:Osaka City General Hospital, Osaka, Japan、2:Seichokai Fuchu Hospital, Osaka, Japan

 

[Case] A 51-year-old male patient with leg eczema was referred to our hospital. Laboratory studies revealed a WBC count of 31.5×109/L (myelo 12%, neutro 26%, lympho 10%, eosino 15%, baso 16%, aty-lympho 9%, blast 0%), hemoglobin of 8.9 g/dl and platelet count of 440×109/L. Bone marrow aspiration showed myeloid and megakaryocyte dysplasia and 7.2% of TNC were peroxidase negative to weakly positive blast cells. In FCM analysis, blasts were positive for CD7, CD13, CD33, CD34 and HLA-DR. Cytogenetic analysis revealed 46, XY, t(4;12)(q12;p13) [20/20]. FISH analysis confirmed PDGFR translocation and ETV6 translocation. Cells with basophilic granules in peripheral blood were considered to be immature eosinophils because they were negative for toluidine blue staining. As a consequence, a diagnosis of "myelodysplastic syndrome and chronic eosinophilic leukemia with PDGFR rearrangement" was made. He was treated with azacitidine followed by imatinib, and planning for allo-HSCT was initiated. [Discussion] t(4;12)(q12;p13) is a rare chromosomal abnormality seen in AML and CEL. As in this case, it has been reported that AML with this abnormality is characterized by trilineage dysplasia, peroxidase negative to weakly positive blasts, CD7 positive blasts, normal platelet count and increased basophils. It has been reported that a patient having chronic eosinophilic leukemia with the ETV6-PDGFRA fusion gene responded to low-dose imatinib. We started analysis of fusion genes and treatment with imatinib and we will report the results.

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