Literature DB >> 26911351

Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy.

Michiko Muraoka1, Chiho Okuma1, Kiichiro Kanamitsu1, Hisashi Ishida1, Yui Kanazawa1, Kana Washio1, Masafumi Seki2, Motohiro Kato3, Junko Takita2, Yusuke Sato4, Seishi Ogawa4, Hirokazu Tsukahara1, Megumi Oda1,5, Akira Shimada1.   

Abstract

Juvenile myelomonocytic leukemia (JMML) appears to be a life-threatening disease and showed poor prognosis even after hematopoietic stem cell transplantation (HSCT) because of high relapse rate. On the other hand, recent molecular analysis revealed the heterogeneity of JMML. Here we report that two JMML patients survived >20 years without HSCT and both patients had uniparental disomy of 11q23 where CBL is located without the phenomenon found in neither Noonan syndrome nor Noonan syndrome-like disorder. We think that some JMML patients with CBL mutation might show the good prognosis in later life after remission of JMML.

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Year:  2016        PMID： 26911351     DOI： 10.1038/jhg.2016.8

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


  18 in total

1.  Autoimmunity and persistent RAS-mutated clones long after the spontaneous regression of JMML.

Authors:  M Takagi; J Piao; L Lin; H Kawaguchi; C Imai; A Ogawa; A Watanabe; K Akiyama; C Kobayashi; M Mori; K Ko; M Sugimoto; S Mizutani
Journal:  Leukemia       Date:  2013-03-18       Impact factor: 11.528

2.  SETBP1 mutation analysis in 944 patients with MDS and AML.

Authors:  F Thol; K J Suchanek; C Koenecke; M Stadler; U Platzbecker; C Thiede; T Schroeder; G Kobbe; S Kade; P Löffeld; S Banihosseini; G Bug; O Ottmann; W-K Hofmann; J Krauter; N Kröger; A Ganser; M Heuser
Journal:  Leukemia       Date:  2013-05-07       Impact factor: 11.528

3.  Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.

Authors:  Hirotoshi Sakaguchi; Yusuke Okuno; Hideki Muramatsu; Kenichi Yoshida; Yuichi Shiraishi; Mariko Takahashi; Ayana Kon; Masashi Sanada; Kenichi Chiba; Hiroko Tanaka; Hideki Makishima; Xinan Wang; Yinyan Xu; Sayoko Doisaki; Asahito Hama; Koji Nakanishi; Yoshiyuki Takahashi; Nao Yoshida; Jaroslaw P Maciejewski; Satoru Miyano; Seishi Ogawa; Seiji Kojima
Journal:  Nat Genet       Date:  2013-07-07       Impact factor: 38.330

4.  Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

Authors:  Simone Martinelli; Alessandro De Luca; Emilia Stellacci; Cesare Rossi; Saula Checquolo; Francesca Lepri; Viviana Caputo; Marianna Silvano; Francesco Buscherini; Federica Consoli; Grazia Ferrara; Maria C Digilio; Maria L Cavaliere; Johanna M van Hagen; Giuseppe Zampino; Ineke van der Burgt; Giovanni B Ferrero; Laura Mazzanti; Isabella Screpanti; Helger G Yntema; Willy M Nillesen; Ravi Savarirayan; Martin Zenker; Bruno Dallapiccola; Bruce D Gelb; Marco Tartaglia
Journal:  Am J Hum Genet       Date:  2010-07-08       Impact factor: 11.025

Review 5.  Chronic myelomonocytic leukemia in childhood: a retrospective analysis of 110 cases. European Working Group on Myelodysplastic Syndromes in Childhood (EWOG-MDS)

Authors:  C M Niemeyer; M Arico; G Basso; A Biondi; A Cantu Rajnoldi; U Creutzig; O Haas; J Harbott; H Hasle; G Kerndrup; F Locatelli; G Mann; B Stollmann-Gibbels; E T van't Veer-Korthof; E van Wering; M Zimmermann
Journal:  Blood       Date:  1997-05-15       Impact factor: 22.113

6.  PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Authors:  Marco Tartaglia; Kamini Kalidas; Adam Shaw; Xiaoling Song; Dan L Musat; Ineke van der Burgt; Han G Brunner; Débora R Bertola; Andrew Crosby; Andra Ion; Raju S Kucherlapati; Steve Jeffery; Michael A Patton; Bruce D Gelb
Journal:  Am J Hum Genet       Date:  2002-05-01       Impact factor: 11.025

7.  Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms.

Authors:  Masashi Sanada; Takahiro Suzuki; Lee-Yung Shih; Makoto Otsu; Motohiro Kato; Satoshi Yamazaki; Azusa Tamura; Hiroaki Honda; Mamiko Sakata-Yanagimoto; Keiki Kumano; Hideaki Oda; Tetsuya Yamagata; Junko Takita; Noriko Gotoh; Kumi Nakazaki; Norihiko Kawamata; Masafumi Onodera; Masaharu Nobuyoshi; Yasuhide Hayashi; Hiroshi Harada; Mineo Kurokawa; Shigeru Chiba; Hiraku Mori; Keiya Ozawa; Mitsuhiro Omine; Hisamaru Hirai; Hiromitsu Nakauchi; H Phillip Koeffler; Seishi Ogawa
Journal:  Nature       Date:  2009-07-20       Impact factor: 49.962

8.  Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.

Authors:  Nao Yoshida; Hiroshi Yagasaki; Yinyan Xu; Kazuyuki Matsuda; Ayami Yoshimi; Yoshiyuki Takahashi; Asahito Hama; Nobuhiro Nishio; Hideki Muramatsu; Nobuhiro Watanabe; Kimikazu Matsumoto; Koji Kato; Junichi Ueyama; Hiroko Inada; Hiroaki Goto; Miharu Yabe; Kazuko Kudo; Junichi Mimaya; Akira Kikuchi; Atsushi Manabe; Kenichi Koike; Seiji Kojima
Journal:  Pediatr Res       Date:  2009-03       Impact factor: 3.756

9.  Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

Authors:  Charlotte M Niemeyer; Michelle W Kang; Danielle H Shin; Ingrid Furlan; Miriam Erlacher; Nancy J Bunin; Severa Bunda; Jerry Z Finklestein; Thomas A Gorr; Parinda Mehta; Irene Schmid; Gabriele Kropshofer; Selim Corbacioglu; Peter J Lang; Christoph Klein; Paul-Gerhard Schlegel; Andrea Heinzmann; Michaela Schneider; Jan Starý; Marry M van den Heuvel-Eibrink; Henrik Hasle; Franco Locatelli; Debbie Sakai; Sophie Archambeault; Leslie Chen; Ryan C Russell; Stephanie S Sybingco; Michael Ohh; Benjamin S Braun; Christian Flotho; Mignon L Loh
Journal:  Nat Genet       Date:  2010-08-08       Impact factor: 38.330

10.  Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics.

Authors:  Marta Fernandez-Mercado; Bon Ham Yip; Andrea Pellagatti; Carwyn Davies; María José Larrayoz; Toshinori Kondo; Cristina Pérez; Sally Killick; Emma-Jane McDonald; María Dolores Odero; Xabier Agirre; Felipe Prósper; María José Calasanz; James S Wainscoat; Jacqueline Boultwood
Journal:  PLoS One       Date:  2012-08-09       Impact factor: 3.240
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  3 in total

Review 1.  Germline Genetic Predisposition to Hematologic Malignancy.

Authors:  Elissa Furutani; Akiko Shimamura
Journal:  J Clin Oncol       Date:  2017-02-13       Impact factor: 44.544

Review 2.  Role of CBL Mutations in Cancer and Non-Malignant Phenotype.

Authors:  Davide Leardini; Daria Messelodi; Edoardo Muratore; Francesco Baccelli; Salvatore N Bertuccio; Laura Anselmi; Andrea Pession; Riccardo Masetti
Journal:  Cancers (Basel)       Date:  2022-02-08       Impact factor: 6.639

3.  VAV1-Cre mediated hematopoietic deletion of CBL and CBL-B leads to JMML-like aggressive early-neonatal myeloproliferative disease.

Authors:  Wei An; Bhopal C Mohapatra; Neha Zutshi; Timothy A Bielecki; Benjamin T Goez; Haitao Luan; Fany Iseka; Insha Mushtaq; Matthew D Storck; Vimla Band; Hamid Band
Journal:  Oncotarget       Date:  2016-09-13
  3 in total

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