Integrating germline variant assessment into routine clinical practice for myelodysplastic syndrome and acute myeloid leukaemia: current strategies and challenges

NCCN Guidelines Insights: Acute Myeloid Leukemia, Version 2.2021

(2021) Daniel A. Pollyea et al.   Journal of the National Comprehensive Cancer Network

Unique ethnic features of DDX41 mutations in patients with idiopathic cytopenia of undetermined significance, myelodysplastic syndrome, or acute myeloid leukemia

(2021) Eun-Ji Choi et al.   HAEMATOLOGICA

Clinical and genetic characteristics of children with acute lymphoblastic leukemia and Li–Fraumeni syndrome

(2021) Greta Winter et al.   LEUKEMIA

Germline variants drive myelodysplastic syndrome in young adults

(2021) Simone Feurstein et al.   LEUKEMIA

Next-Generation Sequencing of DDX41 in Myeloid Neoplasms Leads to Increased Detection of Germline Alterations

(2021) Sarah A. Bannon et al.   Frontiers in Oncology

Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer

(2021) Deepak Singhal et al.   LEUKEMIA

GATA2 deficiency syndrome: A decade of discovery

(2021) Claire C. Homan et al.   HUMAN MUTATION

Comparison of outcomes of myeloablative allogeneic stem cell transplantation for pediatric patients with bone marrow failure, myelodysplastic syndrome and acute myeloid leukemia with and without germline GATA2 mutations

(2020) Inga Hofmann et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Cancer spectrum and outcomes in the Mendelian short telomere syndromes

(2020) Kristen E Schratz et al.   BLOOD

Diagnostic evaluation and considerations in hypocellular bone marrow failure—A focus on genomics

(2020) Lucy C. Fox et al.   International Journal of Laboratory Hematology

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

(2020) Ana Rio-Machin et al.   Nature Communications

Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA)

(2020) Hamish S Scott et al.   BLOOD

Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

(2020) Thierry Frebourg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

(2020) Marilyn M. Li et al.   GENETICS IN MEDICINE

How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies

(2020) David Wu et al.   HAEMATOLOGICA

Somatic genetic rescue in hematopoietic cells in GATA2 deficiency

(2020) Luiz Fernando B. Catto et al.   BLOOD

What’s germane in the germline? Finding clinically relevant germline variants in myeloid neoplasms from tumor only screening

(2020) Anna L. Brown et al.   LEUKEMIA RESEARCH

Assessment of technical heterogeneity among diagnostic tests to detect germline risk variants for hematopoietic malignancies

(2020) Gregory W. Roloff et al.   GENETICS IN MEDICINE

Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia

(2020) Borahm Kim et al.   Scientific Reports

Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations

(2020) Simone Feurstein et al.   Blood Advances

Inherited predisposition to haematopoietic malignancies: overcoming barriers and exploring opportunities

(2020) Amy M. Trottier et al.   BRITISH JOURNAL OF HAEMATOLOGY

A case of acute myeloid leukemia with unusual germline CEBPA mutation: lessons learned about mutation detection, location, and penetrance

(2020) Hadrian Mendoza et al.   LEUKEMIA & LYMPHOMA

Identifying potential germline variants from sequencing hematopoietic malignancies

(2020) Ira L. Kraft et al.   Hematology-American Society of Hematology Education Program

Special pre- and posttransplant considerations in inherited bone marrow failure and hematopoietic malignancy predisposition syndromes

(2020) Carmem Bonfim   Hematology-American Society of Hematology Education Program

Transcription factor mutations as a cause of familial myeloid neoplasms

(2019) Jane E. Churpek et al.   JOURNAL OF CLINICAL INVESTIGATION

DDX41 mutations in myeloid neoplasms are associated with male gender, TP53 mutations and high‐risk disease

(2019) Andrés E. Quesada et al.   AMERICAN JOURNAL OF HEMATOLOGY

ERCC6L2 defines a novel entity within inherited acute myeloid leukemia

(2019) Suvi P. M. Douglas et al.   BLOOD

Stopping Leukemia in Its Tracks: Should Preemptive Hematopoietic Stem-Cell Transplantation be Offered to Patients at Increased Genetic Risk for Acute Myeloid Leukemia?

(2019) Kayla V. Hamilton et al.   JOURNAL OF CLINICAL ONCOLOGY

Somatic genetic rescue in Mendelian haematopoietic diseases

(2019) Patrick Revy et al.   NATURE REVIEWS GENETICS

Germline DDX41 mutations define a significant entity within adult MDS/AML patients

(2019) Marie Sébert et al.   BLOOD

GATA2 deficiency and haematopoietic stem cell transplantation: challenges for the clinical practitioner

(2019) Delfien J. Bogaert et al.   BRITISH JOURNAL OF HAEMATOLOGY

Penetrance of different cancer types in families with Li-Fraumeni syndrome: a validation study using multi-center cohorts

(2019) Seung Jun Shin et al.   CANCER RESEARCH

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

(2019) Sarah E. Brnich et al.   Genome Medicine

Genetic predisposition to MDS: diagnosis and management

(2019) Elissa Furutani et al.   Hematology-American Society of Hematology Education Program

Introducing whole-genome sequencing into routine cancer care: the Genomics England 100 000 Genomes Project

(2018) C Turnbull   ANNALS OF ONCOLOGY

Allogeneic Hematopoietic Stem Cell Transplantation for GATA2 Deficiency Using a Busulfan-Based Regimen

(2018) Mark Parta et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Improving the detection of patients with inherited predispositions to hematologic malignancies using next-generation sequencing-based leukemia prognostication panels

(2018) Courtney D. DiNardo et al.   CANCER

GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML

(2018) Ahad F. Al Seraihi et al.   LEUKEMIA

SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies

(2018) Josef Davidsson et al.   LEUKEMIA

Universal genetic testing for inherited susceptibility in children and adults with myelodysplastic syndrome and acute myeloid leukemia: are we there yet?

(2018) Kiran Tawana et al.   LEUKEMIA

Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelicERCC6L2variants

(2018) Hemanth Tummala et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MBD4 guards against methylation damage and germline deficiency predisposes to clonal hematopoiesis and early-onset AML

(2018) Mathijs A. Sanders et al.   BLOOD

Donor-derived MDS/AML in families with germline GATA2 mutation

(2018) Pallavi Galera et al.   BLOOD

Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree

(2017) Kiran Tawana et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient

(2017) Parvathy Venugopal et al.   HAEMATOLOGICA

Myeloid neoplasms with germline DDX41 mutation

(2017) Jesse J. C. Cheah et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Germline ETV6 mutations and predisposition to hematological malignancies

(2017) Simone Feurstein et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

(2017) Federica Buonocore et al.   JOURNAL OF CLINICAL INVESTIGATION

Incidental detection of germline variants of potential clinical significance by massively parallel sequencing in haematological malignancies

(2017) Costas K Yannakou et al.   JOURNAL OF CLINICAL PATHOLOGY

Donor cell leukemia arising from preleukemic clones with a novel germline DDX41 mutation after allogenic hematopoietic stem cell transplantation

(2017) S Kobayashi et al.   LEUKEMIA

Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes

(2017) C-E Chong et al.   LEUKEMIA

Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome

(2017) J R Schwartz et al.   LEUKEMIA

Practical considerations for diagnosis and management of patients and carriers

(2017) Charlotte M. Niemeyer et al.   SEMINARS IN HEMATOLOGY

Familial CEBPA -mutated acute myeloid leukemia

(2017) Kiran Tawana et al.   SEMINARS IN HEMATOLOGY

GATA2 deficiency and related myeloid neoplasms

(2017) Marcin W. Wlodarski et al.   SEMINARS IN HEMATOLOGY

Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient

(2017) Parvathy Venugopal et al.   HAEMATOLOGICA

Clinical Assessment and Diagnosis of Germline Predisposition to Hematopoietic Malignancies: The University of Chicago Experience

(2017) Ami V. Desai et al.   Frontiers in Pediatrics

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L

(2016) Dong-Hui Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel

(2016) Hartmut Döhner 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

Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation

(2016) G Berger et al.   LEUKEMIA

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

(2016) Satoshi Narumi et al.   NATURE GENETICS

Disease evolution and outcomes in familial AML with germline CEBPA mutations

(2015) K. Tawana et al.   BLOOD

Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia

(2015) J. E. Churpek et al.   BLOOD

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

(2015) M. Lewinsohn et al.   BLOOD

Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents

(2015) M. W. Wlodarski et al.   BLOOD

Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms

(2015) Chantana Polprasert et al.   CANCER CELL

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family

(2015) A. Pathak et al.   HAEMATOLOGICA

GATA2 is required for lymphatic vessel valve development and maintenance

(2015) Jan Kazenwadel et al.   JOURNAL OF CLINICAL INVESTIGATION

Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study

(2015) Takaya Moriyama et al.   LANCET ONCOLOGY

Somatic mutations associated with leukemic progression of familial platelet disorder with predisposition to acute myeloid leukemia

(2015) I Antony-Debré et al.   LEUKEMIA

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

(2015) Michael Y Zhang et al.   NATURE GENETICS

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

(2015) Leila Noetzli et al.   NATURE GENETICS

Germline Mutations in Predisposition Genes in Pediatric Cancer

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

Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family

(2015) A. Pathak et al.   HAEMATOLOGICA

ANKRD26-related thrombocytopenia and myeloid malignancies

(2013) P. Noris et al.   BLOOD

GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome

(2013) A. P. Hsu et al.   BLOOD

Highly variable clinical manifestations in a large family with a novel GATA2 mutation

(2013) P G N J Mutsaers et al.   LEUKEMIA

The genomic landscape of hypodiploid acute lymphoblastic leukemia

(2013) Linda Holmfeldt et al.   NATURE GENETICS

Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival

(2012) C. Bodor et al.   HAEMATOLOGICA

Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2

(2011) Tommaso Pippucci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

First report of multiple CEBPA mutations contributing to donor origin of leukemia relapse after allogeneic hematopoietic stem cell transplantation

(2011) H. Xiao et al.   BLOOD

Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency

(2011) J. Cuellar-Rodriguez et al.   BLOOD

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency

(2011) R. E. Dickinson et al.   BLOOD

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families

(2011) P. Noris 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

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

The helicase DDX41 senses intracellular DNA mediated by the adaptor STING in dendritic cells

(2011) Zhiqiang Zhang et al.   NATURE IMMUNOLOGY

Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome

(2009) M C J Jongmans et al.   LEUKEMIA