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文献詳細

雑誌文献

臨床検査59巻10号

2015年10月発行

文献概要

今月の特集2 MDS/MPNを知ろう

若年性骨髄単球性白血病(JMML)

著者: 宮内潤1

所属機関: 1東京歯科大学市川総合病院臨床検査科

ページ範囲:P.990 - P.997

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●若年性骨髄単球性白血病(JMML)は,Rasを介するシグナル伝達経路上の遺伝子変異によってRas経路が恒常的に活性化することで発生する.

●JMML前駆細胞は顆粒球マクロファージコロニー刺激因子(GM-CSF)に対する過敏性増殖を示す.

●Ras経路関連遺伝子の胚細胞変異は,白血病とともに先天奇形にも関与する.

●RAS遺伝子の変異はJMMLと自己免疫性リンパ増殖症候群(ALPS)の共通の発症基盤にもなりうる.

参考文献

1)Vardiman JW, Pierre R, Imbert M, et al:Juvenile myelomonocytic leukemia. In: Jaffe ES, Harris NL, Stein H, et al (eds), WHO classification of tumors of hematopoietic and lymphoid tissues, 3rd ed, IARC Press, Lyon,pp55-57,2001
2)Proytcheva M:Juvenile myelomonocytic leukemia. Semin Diagn Pathol 28:298-303,2011
3)Satwani P, Kahn J, Dvorak CC:Juvenile myelomonocytic leukemia. Pediatr Clin North Am 62:95-106,2015
4)Calvo KR, Price S, Braylan RC, et al:JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities. Blood 125:2753-2758,2015
5)Emanuel PD, Bates LJ, Castleberry RP, et al:Selective hypersensitivity to granulocyte-macrophage colony-stimulating factor by juvenile chronic myeloid leukemia hematopoietic progenitors. Blood 77:925-929,1991
6)Niemeyer CM:RAS diseases in children. Haematologica 99:1653-1662,2014
7)Chang TY, Dvorak CC, Loh ML:Bedside to bench in juvenile myelomonocytic leukemia: insights into leukemogenesis from a rare pediatric leukemia. Blood 124:2487-2497,2014
8)Miyauchi J, Asada M, Sasaki M, et al:Mutations of the N-ras gene in juvenile chronic myelogenous leukemia. Blood 83:2248-2254,1994
9)Baumann I, Bennet JM, Niemeyer CM, et al:Juvenile myelomonocytic leukemia. In: Swerdlow SH, Campo E, Harris NL, et al (eds), WHO classification of tumors of hematopoietic and lymphoid tissues, 4th ed, IARC Press, Lyon,pp82-84,2008
10)Zoi K, Cross NC:Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable. Int J Hematol 101:229-242,2015
11)Matsuda K, Shimada A, Yoshida N, et al:Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. Blood 109:5477-5480, 2007
12)Doisaki S, Muramatsu H, Shimada A, et al:Somatic mosaicism for oncogenic NRAS mutations in juvenile myelomonocytic leukemia. Blood 120:1485-1488,2012

掲載誌情報

出版社:株式会社医学書院

電子版ISSN:1882-1367

印刷版ISSN:0485-1420

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