Familial Myelodysplastic/Acute Leukemia Syndromes-Myeloid Neoplasms with Germline Predisposition.

PubWeight™: 0.75‹?›

🔗 View Article (PMID 28955657)

Published in Front Oncol on September 12, 2017

Authors

Renata Lyrio Rafael Baptista1, Anna Cláudia Evangelista Dos Santos2, Luciana Mayumi Gutiyama3, Cristiana Solza1, Ilana Renault Zalcberg3

Author Affiliations

1: Departamento de Medicina Interna/Hematologia, Hospital Universitário Pedro Ernesto, Rio de Janeiro, Brazil.
2: Programa de Genética, Instituto Nacional do Câncer, Rio de Janeiro, Brazil.
3: Divisão de Laboratórios do Centro de Transplantes de Medula Óssea (CEMO), Instituto Nacional do Câncer, Rio de Janeiro, Brazil.

Articles cited by this

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet (1998) 6.82

The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood (2016) 4.94

Cancer in dyskeratosis congenita. Blood (2009) 4.28

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood (2011) 4.21

Familial myelodysplasia and acute myeloid leukaemia--a review. Br J Haematol (2008) 3.74

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet (2011) 3.41

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet (2011) 3.05

Syndromes of telomere shortening. Annu Rev Genomics Hum Genet (2009) 2.60

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet (2009) 2.57

Tel/Etv6 is an essential and selective regulator of adult hematopoietic stem cell survival. Genes Dev (2004) 2.56

A pediatric approach to the WHO classification of myelodysplastic and myeloproliferative diseases. Leukemia (2003) 2.53

In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood (2002) 2.50

Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis. Blood (2005) 2.47

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood (2011) 2.29

Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms. Cancer Cell (2015) 2.26

ETV6: a versatile player in leukemogenesis. Semin Cancer Biol (2005) 2.24

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. Hum Genet (2013) 2.10

Identification of distinct molecular phenotypes in acute megakaryoblastic leukemia by gene expression profiling. Proc Natl Acad Sci U S A (2006) 2.08

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. Blood (2011) 2.08

Diagnosis, genetics, and management of inherited bone marrow failure syndromes. Hematology Am Soc Hematol Educ Program (2007) 2.01

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood (2012) 1.84

Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet (1996) 1.83

Natural history of transient myeloproliferative disorder clinically diagnosed in Down syndrome neonates: a report from the Children's Oncology Group Study A2971. Blood (2011) 1.81

RUNX1 mutations are associated with poor outcome in younger and older patients with cytogenetically normal acute myeloid leukemia and with distinct gene and MicroRNA expression signatures. J Clin Oncol (2012) 1.79

Molecular pathogenesis and clinical management of Fanconi anemia. J Clin Invest (2012) 1.79

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. Blood (2015) 1.79

Acute myeloid leukemia with biallelic CEBPA gene mutations and normal karyotype represents a distinct genetic entity associated with a favorable clinical outcome. J Clin Oncol (2009) 1.73

Prognostic impact, concurrent genetic mutations, and gene expression features of AML with CEBPA mutations in a cohort of 1182 cytogenetically normal AML patients: further evidence for CEBPA double mutant AML as a distinctive disease entity. Blood (2010) 1.71

A practical, comprehensive classification for pediatric myelodysplastic syndromes: the CCC system. J Pediatr Hematol Oncol (2002) 1.69

GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia. Blood (2013) 1.60

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet (2015) 1.57

Treatment and prognostic impact of transient leukemia in neonates with Down syndrome. Blood (2008) 1.56

Activating mutations in human acute megakaryoblastic leukemia. Blood (2008) 1.56

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet (2010) 1.53

Disease evolution and outcomes in familial AML with germline CEBPA mutations. Blood (2015) 1.49

Topography, clinical, and genomic correlates of 5q myeloid malignancies revisited. J Clin Oncol (2012) 1.40

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet (2011) 1.37

Familial myelodysplastic syndromes: a review of the literature. Haematologica (2011) 1.36

Leukemia in Down syndrome: a review. Pediatr Hematol Oncol (1992) 1.35

ANKRD26-related thrombocytopenia and myeloid malignancies. Blood (2013) 1.32

Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor survival. Haematologica (2012) 1.31

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia. Br J Haematol (2012) 1.22

Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia. Blood (2015) 1.21

Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol (2013) 1.20

Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia. J Clin Oncol (2008) 1.19

Duplication and extensive remodeling shaped POTE family genes encoding proteins containing ankyrin repeat and coiled coil domains. Gene (2005) 1.17

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. J Med Genet (2010) 1.14

Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes. Leuk Lymphoma (2012) 1.13

Telomere length, telomeric proteins and genomic instability during the multistep carcinogenic process. Crit Rev Oncol Hematol (2008) 1.12

Analysis of GATA1 mutations in Down syndrome transient myeloproliferative disorder and myeloid leukemia. Blood (2011) 1.11

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet (2015) 1.10

Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy. Transl Res (2013) 1.08

Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study. Exp Hematol (2002) 1.06

Treatment for myeloid leukaemia of Down syndrome: population-based experience in the UK and results from the Medical Research Council AML 10 and AML 12 trials. Br J Haematol (2006) 1.04

The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes. Haematologica (2015) 1.01

Fanconi anemia and the development of leukemia. Best Pract Res Clin Haematol (2014) 1.00

Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation. Clin Genet (2011) 0.99

Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults. Leuk Lymphoma (2015) 0.98

Chromosomal aberrations in congenital bone marrow failure disorders--an early indicator for leukemogenesis? Ann Hematol (2007) 0.92

A new family with a germline ANKRD26 mutation and predisposition to myeloid malignancies. Leuk Lymphoma (2014) 0.92

ETV6 deletion is a common additional abnormality in patients with myelodysplastic syndromes or acute myeloid leukemia and monosomy 7. Haematologica (2012) 0.91

Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder. Leuk Lymphoma (2010) 0.91

Recognizing familial myeloid leukemia in adults. Ther Adv Hematol (2013) 0.90

Bone marrow failure and the new telomere diseases: practice and research. Hematology (2012) 0.89

Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation. Leukemia (2008) 0.89

Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia. Cancer (2015) 0.88

The role of p53 in megakaryocyte differentiation and the megakaryocytic leukemias of Down syndrome. Cancer Genet Cytogenet (2000) 0.87

Inherited predisposition to acute myeloid leukemia. Semin Hematol (2014) 0.86

Allogeneic stem cell transplant to eliminate germline mutations in the gene for CCAAT-enhancer-binding protein α from hematopoietic cells in a family with AML. Leukemia (2011) 0.85

Strong association between cancer and genomic instability. Radiat Environ Biophys (2009) 0.84

Current management of juvenile myelomonocytic leukemia and the impact of RAS mutations. Paediatr Drugs (2012) 0.82

Evaluating the prognosis of patients with myelodysplastic syndromes. Ann Hematol (2002) 0.81

Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia. Cell Rep (2015) 0.81

Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigations. Ann N Y Acad Sci (2014) 0.81

Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations. Cancer Med (2015) 0.80

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors. Haematologica (2016) 0.78

Normal karyotype is a poor prognostic factor in myeloid leukemia of Down syndrome: a retrospective, international study. Haematologica (2013) 0.78

Fanconi anemia gene variants in therapy-related myeloid neoplasms. Blood Cancer J (2015) 0.76