The genomic landscape of juvenile myelomonocytic leukemia

How I treat juvenile myelomonocytic leukemia

(2015) F. Locatelli et al.   BLOOD

Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome

(2015) Vikas Madan et al.   Nature Communications

Mutations in GATA2 are rare in juvenile myelomonocytic leukemia

(2014) E. Stieglitz et al.   BLOOD

Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia

(2014) E. Stieglitz et al.   BLOOD

Recurrent ETNK1 mutations in atypical chronic myeloid leukemia

(2014) C. B. Gambacorti-Passerini et al.   BLOOD

Bedside to bench in juvenile myelomonocytic leukemia: insights into leukemogenesis from a rare pediatric leukemia

(2014) T. Y. Chang et al.   BLOOD

The R882H DNMT3A Mutation Associated with AML Dominantly Inhibits Wild-Type DNMT3A by Blocking Its Ability to Form Active Tetramers

(2014) David A. Russler-Germain et al.   CANCER CELL

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

(2014) E. Flex et al.   HUMAN MOLECULAR GENETICS

Aggressive congenital juvenile myelomonocytic leukemia associated with somaticKRASp.G13D mutation and concurrent germlineIGF1Rduplication

(2014) Alok Kothari et al.   LEUKEMIA & LYMPHOMA

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

(2014) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

Phase II/III trial of a pre-transplant farnesyl transferase inhibitor in juvenile myelomonocytic leukemia: A report from the Children's Oncology Group

(2014) Elliot Stieglitz et al.   PEDIATRIC BLOOD & CANCER

Juvenile Myelomonocytic Leukemia: Molecular Pathogenesis Informs Current Approaches to Therapy and Hematopoietic Cell Transplantation

(2014) Christopher C. Dvorak et al.   Frontiers in Pediatrics

Genetic loss of SH2B3 in acute lymphoblastic leukemia

(2013) A. Perez-Garcia et al.   BLOOD

Clinical and biological implications of driver mutations in myelodysplastic syndromes

(2013) E. Papaemmanuil et al.   BLOOD

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

(2013) Kristian Cibulskis et al.   NATURE BIOTECHNOLOGY

Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity

(2013) Austin M Dulak et al.   NATURE GENETICS

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

(2013) Hirotoshi Sakaguchi et al.   NATURE GENETICS

Low-level processing of Illumina Infinium DNA Methylation BeadArrays

(2013) Timothy J. Triche et al.   NUCLEIC ACIDS RESEARCH

Mutant DNMT3A: a marker of poor prognosis in acute myeloid leukemia

(2012) A. F. T. Ribeiro et al.   BLOOD

Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML

(2012) S. Hirabayashi et al.   BLOOD

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia

(2012) M. Pasquet et al.   BLOOD

In Vivo Regulation of TGF-  by R-Ras2 Revealed through Loss of the RasGAP Protein NF1

(2012) D. M. Patmore et al.   CANCER RESEARCH

Spliceosomal gene mutations are frequent events in the diverse mutational spectrum of chronic myelomonocytic leukemia but largely absent in juvenile myelomonocytic leukemia

(2012) S. A. Kar et al.   HAEMATOLOGICA

Wiskott-Aldrich syndrome with unusual clinical features similar to juvenile myelomonocytic leukemia

(2012) Hirozumi Sano et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Sustained MEK inhibition abrogates myeloproliferative disease in Nf1 mutant mice

(2012) Tiffany Chang et al.   JOURNAL OF CLINICAL INVESTIGATION

GATA2 mutations are frequent in intermediate-risk karyotype AML with biallelic CEBPA mutations and are associated with favorable prognosis

(2012) A Fasan et al.   LEUKEMIA

Novel splicing-factor mutations in juvenile myelomonocytic leukemia

(2012) J Takita et al.   LEUKEMIA

Clonal evolution in cancer

(2012) Mel Greaves et al.   NATURE

Comprehensive genomic characterization of squamous cell lung cancers

(2012)   NATURE

Differential analysis of gene regulation at transcript resolution with RNA-seq

(2012) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia

(2012) Ayami Yoshimi et al.   PEDIATRIC BLOOD & CANCER

A nonsynonymous LNK polymorphism associated with idiopathic erythrocytosis

(2011) Mary Frances McMullin et al.   AMERICAN JOURNAL OF HEMATOLOGY

Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A

(2011) A. M. Jankowska et al.   BLOOD

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

(2011) J. Kazenwadel et al.   BLOOD

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

(2011) A. P. Hsu et al.   BLOOD

LNK can also be mutated outside PH and SH2 domains in myeloproliferative neoplasms with and without V617FJAK2 mutation

(2011) C. Hurtado et al.   LEUKEMIA RESEARCH

Initial genome sequencing and analysis of multiple myeloma

(2011) Michael A. Chapman et al.   NATURE

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

(2011) Pia Ostergaard et al.   NATURE GENETICS

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia

(2011) Christopher N Hahn et al.   NATURE GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

A MEK Inhibitor Abrogates Myeloproliferative Disease in Kras Mutant Mice

(2011) N. Lyubynska et al.   Science Translational Medicine

Long-term survival after nonintensive chemotherapy in some juvenile myelomonocytic leukemia patients with CBL mutations, and the possible presence of healthy persons with the mutations

(2010) K. Matsuda et al.   BLOOD

Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms

(2010) S. T. Oh et al.   BLOOD

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

(2010) M. H. Albert et al.   BLOOD

Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia

(2010) Benoîte Pérez et al.   BRITISH JOURNAL OF HAEMATOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Gene Expression–Based Classification As an Independent Predictor of Clinical Outcome in Juvenile Myelomonocytic Leukemia

(2010) Silvia Bresolin et al.   JOURNAL OF CLINICAL ONCOLOGY

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

(2010) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

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

(2010) Charlotte M Niemeyer et al.   NATURE GENETICS

LNKMutations inJAK2Mutation–Negative Erythrocytosis

(2010) Terra L. Lasho et al.   NEW ENGLAND JOURNAL OF MEDICINE

DNMT3AMutations in Acute Myeloid Leukemia

(2010) Timothy J. Ley et al.   NEW ENGLAND JOURNAL OF MEDICINE

Intriguing response to azacitidine in a patient with juvenile myelomonocytic leukemia and monosomy 7

(2009) I. Furlan et al.   BLOOD

Mutations in CBL occur frequently in juvenile myelomonocytic leukemia

(2009) M. L. Loh et al.   BLOOD

Increased c-Jun Expression and Reduced GATA2 Expression Promote Aberrant Monocytic Differentiation Induced by Activating PTPN11 Mutants

(2009) Z. Yang et al.   MOLECULAR AND CELLULAR BIOLOGY

Genotype-phenotype correlation in cases of juvenile myelomonocytic leukemia with clonal RAS mutations

(2008) C. Flotho et al.   BLOOD

Single-Cell Profiling Identifies Aberrant STAT5 Activation in Myeloid Malignancies with Specific Clinical and Biologic Correlates

(2008) Nikesh Kotecha et al.   CANCER CELL

Juvenile myelomonocytic leukemia: A report from the 2nd International JMML Symposium

(2008) Rebecca J. Chan et al.   LEUKEMIA RESEARCH