NOTCH1 Mutation in a Female With Myeloid/NK Cell Precursor Acute Leukemia

被引：3

作者：

Shiba, Norio ^{[1
]}

Kanazawa, Takashi ^{[1
]}

Park, Myoung-Ja ^{[2
]}

Okuno, Haruna ^{[1
]}

Tamura, Kazushi ^{[1
]}

Tsukada, Shota ^{[1
]}

Hayashi, Yasuhide ^{[2
]}

Arakawa, Hirokazu ^{[1
]}

机构：

[1] Gunma Univ, Grad Sch Med, Dept Pediat, Gunma 3718511, Japan

[2] Gunma Childrens Med Ctr, Dept Hematol Oncol, Gunma, Japan

来源：

PEDIATRIC BLOOD & CANCER | 2010年 / 55卷 / 07期

关键词：

activating mutation; cord blood transplantation L asparaginase; myeloid/NK cell precursor acute leukemia; NOTCH; 1; ACUTE LYMPHOBLASTIC-LEUKEMIA; ACTIVATING MUTATIONS; EXPRESSION; NEOPLASMS; LINEAGE; FORM; NK;

D O I：

10.1002/pbc.22758

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

A 6 year old Japanese female was diagnosed as having myeloid/NK cell precursor acute leukemia (MNKL) using immuno cytochemical analysis The patient was treated by cord blood transplantation from an HLA 1 locus mismatched unrelated donor after chemotherapy comprising cytosine arabinoside, idarubicin etoposide and L asparaginase We detected a nonsense mutation, C7412A, resulting in S2471X where X is a terminal codon in the PEST domain of NOTCH1 in this patient The presence of the NOTCH1 activating mutation in MNKL might suggest a possible role in the leukemogenesis of MNKL Pediatr Blood Cancer 2010 55 1406-1409 (C) 2010 Wiley Liss Inc

引用

页码：1406 / 1409

页数：4

共 20 条

[1]

Androutsellis-Theotokis A, 2006, NATURE, V442, P823, DOI 10.1038/nature04940

[2] Activating NOTCH1 mutations predict favorable early treatment response and long-term outcome in childhood precursor T-cell lymphoblastic leukemia [J].

Breit, Stephen ;

Stanulla, Martin ;

Flohr, Thomas ;

Schrappe, Martin ;

Ludwig, Wolf-Dieter ;

Tolle, Gabriele ;

Happich, Margit ;

Muckenthaler, Martina U. ;

Kulozik, Andreas E. .

BLOOD, 2006, 108 (04) :1151-1157

[3] Osteoblastic cells regulate the haematopoietic stem cell niche [J].

Calvi, LM ;

Adams, GB ;

Weibrecht, KW ;

Weber, JM ;

Olson, DP ;

Knight, MC ;

Martin, RP ;

Schipani, E ;

Divieti, P ;

Bringhurst, FR ;

Milner, LA ;

Kronenberg, HM ;

Scadden, DT .

NATURE, 2003, 425 (6960) :841-846

[4]

Chen PM, 2008, INT J ONCOL, V32, P1335

[5] Notch Oncoproteins depend on γ-secretase/presenilin activity for processing and function [J].

Das, I ;

Craig, C ;

Funahashi, Y ;

Jung, KM ;

Kim, TW ;

Byers, R ;

Weng, AP ;

Kutok, JL ;

Aster, JC ;

Kitajewski, J .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2004, 279 (29) :30771-30780

[6] The impact of NOTCH1, FBW7 and PTEN mutations on prognosis and downstream signaling in pediatric T-cell acute lymphoblastic leukemia: a report from the Children's Oncology Group [J].

Gedman, A. Larson ;

Chen, Q. ;

Desmoulin, S. Kugel ;

Ge, Y. ;

LaFiura, K. ;

Haska, C. L. ;

Cherian, C. ;

Devidas, M. ;

Linda, S. B. ;

Taub, J. W. ;

Matherly, L. H. .

LEUKEMIA, 2009, 23 (08) :1417-1425

[7] NOTCH1 pathway activation is an early hallmark of SCL T leukemogenesis [J].

Goethert, Joachim R. ;

Brake, Rachael L. ;

Smeets, Monique ;

Duehrsen, Ulrich ;

Begley, C. Glenn ;

Izon, David J. .

BLOOD, 2007, 110 (10) :3753-3762

[8] The earliest thymic progenitors in adults are restricted to T, NK, and dendritic cell lineage and have a potential to form more diverse TCRβ chains than fetal progenitors [J].

Lu, M ;

Tayu, R ;

Ikawa, T ;

Masuda, K ;

Matsumoto, I ;

Mugishima, H ;

Kawamoto, H ;

Katsura, Y .

JOURNAL OF IMMUNOLOGY, 2005, 175 (09) :5848-5856

[9] Activating mutations in NOTCH1 in acute myeloid leukemia and lineage switch leukemias [J].

Palomero, T. ;

McKenna, K. ;

O-Neil, J. ;

Galinsky, I. ;

Stone, R. ;

Suzukawa, K. ;

Stiakaki, E. ;

Kalmanti, M. ;

Fox, E. A. ;

Caligiuri, M. A. ;

Aster, J. C. ;

Look, A. T. ;

Ferrando, A. A. .

LEUKEMIA, 2006, 20 (11) :1963-1966

[10] FBXW7 and NOTCH1 mutations in childhood T cell acute lymphoblastic leukaemia and T cell non-Hodgkin lymphoma [J].

Park, Myoung-Ja ;

Taki, Tomohiko ;

Oda, Megumi ;

Watanabe, Tomoyuki ;

Yumura-Yagi, Keiko ;

Kobayashi, Ryoji ;

Suzuki, Nobuhiro ;

Hara, Junichi ;

Horibe, Keizo ;

Hayashi, Yasuhide .

BRITISH JOURNAL OF HAEMATOLOGY, 2009, 145 (02) :198-206

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