RASopathies: From germline mutations to somatic and multigenic diseases

After 95 years, it's time to eRASe JMML

(2020) Sonia Meynier et al.   BLOOD REVIEWS

Lymphoma Driver Mutations in the Pathogenic Evolution of an Iconic Human Autoantibody

(2020) Mandeep Singh et al.   CELL

Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era

(2020) Gaurav Goyal et al.   BLOOD

Juvenile myelomonocytic leukemia – A bona fide RASopathy syndrome

(2020) Terra Lasho et al.   BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY

High frequency of clonal hematopoiesis in Erdheim-Chester disease

(2020) Fleur Cohen Aubart et al.   BLOOD

Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD)

(2020) Quentin Neven et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Clinical and molecular spectra of BRAF-associated RASopathy

(2020) Yena Lee et al.   JOURNAL OF HUMAN GENETICS

Efficacy of MEK inhibition in patients with histiocytic neoplasms

(2019) Eli L. Diamond et al.   NATURE

Autoimmunity associated with Erdheim-Chester disease improves with BRAF/MEK inhibitors

(2019) Anaïs Roeser et al.   HAEMATOLOGICA

Costello syndrome: Clinical phenotype, genotype, and management guidelines

(2019) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups

(2019) Caoimhe Egan et al.   HAEMATOLOGICA

RAS-associated Autoimmune Leukoproliferative disease (RALD) manifested with early-onset SLE-like syndrome: a case series of RALD in Chinese children

(2019) Wei Wang et al.   Pediatric Rheumatology

Consensus recommendations for the diagnosis and clinical management of Rosai-Dorfman-Destombes disease

(2018) Oussama Abla et al.   BLOOD

Status of KRAS in iPSCs Impacts upon Self-Renewal and Differentiation Propensity

(2018) Kenji Kubara et al.   Stem Cell Reports

Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome

(2017) Heather Mason-Suares et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Neurofibromatosis type 1

(2017) David H. Gutmann et al.   Nature Reviews Disease Primers

Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages

(2016) J.-F. Emile et al.   BLOOD

The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia

(2016) D. A. Arber et al.   BLOOD

Efficacy of the MEK inhibitor cobimetinib for wild-type BRAF Erdheim-Chester disease

(2016) Fleur Cohen Aubart et al.   BRITISH JOURNAL OF HAEMATOLOGY

JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities

(2015) Katherine R. Calvo et al.   BLOOD

Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network

(2015) Aurélie Caye et al.   NATURE GENETICS

Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms

(2015) E. L. Diamond et al.   Cancer Discovery

RAS-associated lymphoproliferative disease evolves into severe juvenile myelo-monocytic leukemia

(2014) N. Lanzarotti et al.   BLOOD

Association of both Langerhans cell histiocytosis and Erdheim-Chester disease linked to the BRAFV600E mutation

(2014) B. Hervier et al.   BLOOD

RAS diseases in children

(2014) C. M. Niemeyer   HAEMATOLOGICA

Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

(2014) M. E. M. Pierpont et al.   PEDIATRICS

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

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

The RASopathies

(2013) Katherine A. Rauen   Annual Review of Genomics and Human Genetics

Noonan syndrome

(2013) Amy E Roberts et al.   LANCET

Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature

(2013) Brigitte Bader-Meunier et al.   SEMINARS IN ARTHRITIS AND RHEUMATISM

Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

(2012) Anne Goriely et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey

(2012) Yu Abe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation

(2012) J. Haroche et al.   BLOOD

High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses

(2012) J. Haroche et al.   BLOOD

Ras/MAPK syndromes and childhood hemato-oncological diseases

(2012) Yoko Aoki et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome

(2011) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development

(2011) D.H. Siegel et al.   BRITISH JOURNAL OF DERMATOLOGY

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

(2010) Simone Martinelli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation

(2010) M. Takagi et al.   BLOOD

Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop

(2010) J. B. Oliveira et al.   BLOOD

Recurrent BRAF mutations in Langerhans cell histiocytosis

(2010) G. Badalian-Very et al.   BLOOD

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

(2010) Shoko Komatsuzaki et al.   JOURNAL OF HUMAN GENETICS

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

(2010) Charlotte M Niemeyer et al.   NATURE GENETICS

Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1

(2009) D. Steinemann et al.   HAEMATOLOGICA

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

(2009) E Pasmant et al.   JOURNAL OF MEDICAL GENETICS

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

(2009) G Spurlock et al.   JOURNAL OF MEDICAL GENETICS

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

(2009) Viviana Cordeddu et al.   NATURE GENETICS

A restricted spectrum of NRAS mutations causes Noonan syndrome

(2009) Ion C Cirstea et al.   NATURE GENETICS