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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Extramedullary T-lymphoid crisis of ETV6/ABL1-positive myeloproliferative neoplasm with t(7;14)

演題番号 : PS-1-98

山本 克也 (Katsuya Yamamoto):1、薬師神 公和 (Kimikazu Yakushijin):1、中町 祐司 (Yuji Nakamachi):2、宮田 吉晴 (Yoshiharu Miyata):1、真田 幸尚 (Yukinari Sanada):1、岩本 有里子 (Yuriko Iwamoto):1、岡村 篤夫 (Atsuo Okamura):1、松本 久幸 (Hisayuki Matsumoto):2、村山 徹 (Tohru Murayama):1,4、河野 誠司 (Seiji Kawano):2、林 祥剛 (Yoshitake Hayashi):3、松岡 広 (Hiroshi Matsuoka):1、南 博信 (Hironobu Minami):1

1:Division of Medical Oncology/Hematology, Kobe University Hospital, Kobe, Japan、2:Division of Clinical Laboratory, Kobe University Hospital, Kobe, Japan、3:Division of Diagnostic Pathology, Kobe University Hospital, Kobe, Japan、4:Hematology Division, Hyogo Cancer Center, Akashi, Japan

 

The t(9;12)(q34;p13) involving ABL1 at 9q34 and ETV6 at 12p13 is a rare but recurrent translocation in myeloproliferative neoplasm (MPN) and acute leukemia, and results in the ETV6/ABL1 fusion protein with constitutive tyrosine kinase activity. A 31-year-old man was admitted because of generalized lymphadenopathy and leukocytosis: 50.7 x 109/L with 79% mature myeloid cells and 11% eosinophils. Pathological examination of lymph nodes was consistent with T-lymphoblastic lymphoma (T-LBL). Bone marrow was hypercellular with 1.6% blasts, 49.2% myeloid cells, and 42.6% eosinophils. G-banding and SKY of bone marrow cells showed 46,XY,t(7;14)(p13;q11.2),der(9)t(9;12)(q34;p?),del(12)(p13?). FISH detected the ETV6/ABL1 fusion signal on the der(9)t(9;12), indicating the diagnosis of ETV6/ABL1-positive MPN. RT-PCR confirmed expression of the ETV6/ABL1 fusion transcripts: the ETV6 exon 4 or 5 was fused with the ABL1 exon 2. Similarly, G-banding and FISH of lymph node cells revealed the same karyotype and ETV6/ABL1 fusion signals. Southern bot showed rearrangement of TRD@ Jδ1 at 14q11.2. These genetic findings indicate that T-LBL was actually an extramedullary T-lymphoid blast crisis (T-LBC) of MPN. The patient was treated by dasatinib with hyper-CVAD, and achieved partial remission. We also established RQ-PCR system for ETV6/ABL1 and monitored MRD during chemotherapy. This is the first case of T-LBC of ETV6/ABL1-positive MPN. An additional aberration t(7;14)(p13;q11.2), which has been found in a few cases of T-cell malignancies, may be associated with the progression to T-LBC.

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