Role of CBL Mutations in Cancer and Non-Malignant Phenotype

CBL mutations drive PI3K/AKT signaling via increased interaction with LYN and PIK3R1

(2021) Roger Belizaire et al.   BLOOD

E3 ligase-inactivation rewires CBL interactome to elicit oncogenesis by hijacking RTK–CBL–CIN85 axis

(2021) Syed Feroj Ahmed et al.   ONCOGENE

Predisposition to cancer in children and adolescents

(2021) Christian P Kratz et al.   Lancet Child & Adolescent Health

Response to upfront azacitidine in juvenile myelomonocytic leukemia in the AZA-JMML-001 trial

(2021) Charlotte M. Niemeyer et al.   Blood Advances

After 95 years, it's time to eRASe JMML

(2020) Sonia Meynier et al.   BLOOD REVIEWS

Primary Graft Failure but Treatment Success

(2020) Benjamin Oshrine   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Juvenile myelomonocytic leukemia – A bona fide RASopathy syndrome

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

Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene

(2020) Ying Hong et al.   Neurology-Genetics

GATA2 Related Conditions and Predisposition to Pediatric Myelodysplastic Syndromes

(2020) Antonella Bruzzese et al.   Cancers

Adult‐onset acute myeloid leukaemia in a patient with germline mutation of CBL

(2020) Alaa M. Ali et al.   BRITISH JOURNAL OF HAEMATOLOGY

Molecular and phenotypic diversity of CBL-mutated juvenile myelomonocytic leukemia

(2020) Anna Hecht et al.   HAEMATOLOGICA

A Case of Uveitis in a Patient With Juvenile Myelomonocytic Leukemia Successfully Treated With Adalimumab

(2019) Luisa Cortellazzo Wiel et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Juvenile myelomonocytic leukemia: who’s the driver at the wheel?

(2019) Charlotte M. Niemeyer et al.   BLOOD

Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes

(2019) Jérôme Hadjadj et al.   BLOOD

Noonan Syndrome in South Africa: Clinical and Molecular Profiles

(2019) Cedrik Tekendo-Ngongang et al.   Frontiers in Genetics

c-Cbl: An Important Regulator and a Target in Angiogenesis and Tumorigenesis

(2019) Chimera L. Lyle et al.   Cells

Loss of function Cbl-c mutations in solid tumors

(2019) Silvano Rakeem Daniels et al.   PLoS One

Somatic Hemizygous Y371H CBL Mutation with Loss of Heterozygosity Presenting with BENTA Type Lymphoid Proliferation

(2019) Narender Tejwani et al.   INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION

Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing

(2018) Alireza Tafazoli et al.   Advances in Medical Sciences

Pathogenic Germline Variants in 10,389 Adult Cancers

(2018) Kuan-lin Huang et al.   CELL

Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant

(2018) Jianling Ji et al.   Cancer Genetics

A case of splenomegaly in CBL syndrome

(2017) Rachel R. Coe et al.   European Journal of Medical Genetics

CBL family E3 ubiquitin ligases control JAK2 ubiquitination and stability in hematopoietic stem cells and myeloid malignancies

(2017) Kaosheng Lv et al.   GENES & DEVELOPMENT

De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy

(2017) Stéphanie Guey et al.   JOURNAL OF MEDICAL GENETICS

RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM)

(2017) Brigitte Schlegelberger et al.   SEMINARS IN HEMATOLOGY

RAS-pathway mutation patterns define epigenetic subclasses in juvenile myelomonocytic leukemia

(2017) Daniel B. Lipka et al.   Nature Communications

Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm

(2017) Eleanor G. Seaby et al.   Frontiers in Pediatrics

Cbl-mediated K63-linked ubiquitination of JAK2 enhances JAK2 phosphorylation and signal transduction

(2017) Chun-Shan Liu et al.   Scientific Reports

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

(2016) Michiko Muraoka et al.   JOURNAL OF HUMAN GENETICS

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome and are associated with loss of chromosome 7

(2016) Satoshi Narumi et al.   NATURE GENETICS

How I treat juvenile myelomonocytic leukemia

(2015) F. Locatelli et al.   BLOOD

Balancing Protein Stability and Activity in Cancer: A New Approach for Identifying Driver Mutations Affecting CBL Ubiquitin Ligase Activation

(2015) M. Li et al.   CANCER RESEARCH

Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family

(2015) Anand Pathak et al.   HUMAN GENETICS

Molecular Diversity and Associated Phenotypic Spectrum of GermlineCBLMutations

(2015) Simone Martinelli et al.   HUMAN MUTATION

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

(2015) Aurélie Caye et al.   NATURE GENETICS

The genomic landscape of juvenile myelomonocytic leukemia

(2015) Elliot Stieglitz et al.   NATURE GENETICS

Germline Mutations in Predisposition Genes in Pediatric Cancer

(2015) Jinghui Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Novel strategies to target the ubiquitin proteasome system in multiple myeloma

(2015) Susanne Lub et al.   Oncotarget

Incidences and Prognostic Impact ofc-KIT,WT1,CEBPA, andCBLMutations, and Mutations Associated With Epigenetic Modification in Core Binding Factor Acute Myeloid Leukemia: A Multicenter Study in a Korean Population

(2015) Sang Hyuk Park et al.   Annals of Laboratory Medicine

GermlineCBLmutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23

(2014) Helen L. Hanson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hydrops, fetal pleural effusions and chylothorax in three patients withCBLmutations

(2014) Luzie Bülow et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Tracing the development of acute myeloid leukemia in CBL syndrome

(2014) H. Becker et al.   BLOOD

Molecular Pathways: Cbl Proteins in Tumorigenesis and Antitumor Immunity--Opportunities for Cancer Treatment

(2014) M. S. Liyasova et al.   CLINICAL CANCER RESEARCH

RAS diseases in children

(2014) C. M. Niemeyer   HAEMATOLOGICA

Emerging therapies targeting the ubiquitin proteasome system in cancer

(2014) Nathaniel M. Weathington et al.   JOURNAL OF CLINICAL INVESTIGATION

Juvenile myelomonocytic leukaemia-associated mutation in Cbl promotes resistance to apoptosis via the Lyn-PI3K/AKT pathway

(2014) S Bunda et al.   ONCOGENE

Germline Mutation ofCBLIs Associated With Moyamoya Disease in a Child With Juvenile Myelomonocytic Leukemia and Noonan Syndrome-Like Disorder

(2014) Nobuyuki Hyakuna et al.   PEDIATRIC BLOOD & CANCER

Inhibition of SRC Corrects GM-CSF Hypersensitivity That Underlies Juvenile Myelomonocytic Leukemia

(2013) S. Bunda et al.   CANCER RESEARCH

CBL Linker Region and RING Finger Mutations Lead to Enhanced Granulocyte-Macrophage Colony-stimulating Factor (GM-CSF) Signaling via Elevated Levels of JAK2 and LYN

(2013) Mojib Javadi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

In hematopoietic cells with a germline mutation of CBL, loss of heterozygosity is not a signature of juvenile myelo-monocytic leukemia

(2013) M Strullu et al.   LEUKEMIA

The importance of relative mutant level for evaluating impact on outcome of KIT, FLT3 and CBL mutations in core-binding factor acute myeloid leukemia

(2013) C Allen et al.   LEUKEMIA

Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia

(2012) Michael Kirwan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies

(2012) Caio R.D.C. Quaio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mapping the Hallmarks of Lung Adenocarcinoma with Massively Parallel Sequencing

(2012) Marcin Imielinski et al.   CELL

Ras/MAPK syndromes and childhood hemato-oncological diseases

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

Casitas B-cell lymphoma mutation in childhood T-cell acute lymphoblastic leukemia

(2012) Yuka Saito et al.   LEUKEMIA RESEARCH

Outcomes of immunological interventions for mixed chimerism following allogeneic stem cell transplantation in children with juvenile myelomonocytic leukemia

(2012) Jiro Inagaki et al.   PEDIATRIC BLOOD & CANCER

CBL mutations in infant acute lymphoblastic leukaemia

(2011) Norio Shiba et al.   BRITISH JOURNAL OF HAEMATOLOGY

Casitas B lymphoma mutations in childhood acute lymphoblastic leukemia

(2011) Lindsay Nicholson et al.   GENES CHROMOSOMES & CANCER

c-Cbl inhibits angiogenesis and tumor growth by suppressing activation of PLCγ1

(2011) R D Meyer et al.   ONCOGENE

DNA Damage Stress and Inhibition of Jak2-V617F Cause Its Degradation and Synergistically Induce Apoptosis through Activation of GSK3β

(2011) Toshikage Nagao et al.   PLoS One

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

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

Cbl and Human Myeloid Neoplasms: The Cbl Oncogene Comes of Age: Figure 1.

(2010) Stephen C. Kales et al.   CANCER RESEARCH

Deregulated Intracellular Signaling by Mutated c-CBL in Myeloid Neoplasms

(2010) S. Ogawa et al.   CLINICAL CANCER RESEARCH

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia

(2010) B. Perez et al.   JOURNAL OF MEDICAL GENETICS

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

(2010) Charlotte M Niemeyer et al.   NATURE GENETICS

CBL Is Frequently Altered in Lung Cancers: Its Relationship to Mutations in MET and EGFR Tyrosine Kinases

(2010) Yi-Hung Carol Tan et al.   PLoS One

Mutations in CBL occur frequently in juvenile myelomonocytic leukemia

(2009) M. L. Loh et al.   BLOOD

Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms

(2009) F. H. Grand et al.   BLOOD

CBL Exon 8/9 Mutants Activate the FLT3 Pathway and Cluster in Core Binding Factor/11q Deletion Acute Myeloid Leukemia/Myelodysplastic Syndrome Subtypes

(2009) C. Reindl et al.   CLINICAL CANCER RESEARCH

Mutations of E3 Ubiquitin Ligase Cbl Family Members Constitute a Novel Common Pathogenic Lesion in Myeloid Malignancies

(2009) Hideki Makishima et al.   JOURNAL OF CLINICAL ONCOLOGY

The phytochemical piceatannol induces the loss of CBL and CBL-associated proteins

(2009) A. C. Klimowicz et al.   MOLECULAR CANCER THERAPEUTICS

Moyamoya Disease and Moyamoya Syndrome

(2009) R. Michael Scott et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exon 8 splice site mutations in the gene encoding the E3-ligase CBL are associated with core binding factor acute myeloid leukemias

(2008) S. Abbas et al.   HAEMATOLOGICA