2015
DOI: 10.1182/blood-2015-05-647172
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Disease evolution and outcomes in familial AML with germline CEBPA mutations

Abstract: Key Points• Germ-line CEBPA mutations are highly penetrant, causing early-onset de novo AML associated with favorable survival outcomes.• Familial CEBPA-mutated AML displays a unique model of disease progression, with recurrence caused by novel, independent leukemic episodes.In-depth molecular investigation of familial leukemia has been limited by the rarity of recognized cases. This study examines the genetic events initiating leukemia and details the clinical progression of disease across multiple families h… Show more

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Cited by 161 publications
(158 citation statements)
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“…Recent clinical data from 10 affected families reported a median age for the diagnosis of AML of 24.5 years (range, 1.75-46 years). 11 In contrast, the median age at diagnosis for sporadic AML is 65 years. Morphologically, AML with mutated CEBPA often presents as AML with minimal differentiation or AML without maturation associated with normal karyotype (Figure 1, A).…”
Section: Aml With Germline Cebpa Mutationmentioning
confidence: 99%
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“…Recent clinical data from 10 affected families reported a median age for the diagnosis of AML of 24.5 years (range, 1.75-46 years). 11 In contrast, the median age at diagnosis for sporadic AML is 65 years. Morphologically, AML with mutated CEBPA often presents as AML with minimal differentiation or AML without maturation associated with normal karyotype (Figure 1, A).…”
Section: Aml With Germline Cebpa Mutationmentioning
confidence: 99%
“…Families with germline CEBPA mutation inherit an N-terminal frameshift or nonsense mutation that predisposes to acquiring a somatic C-terminal CEBPA mutation on the other allele. 4,11 Clinical features and family history can provide useful clues in identifying patients with germline CEBPA mutations, which are inherited in an autosomal dominant fashion and are highly penetrant. The age of onset for AML with germline CEBPA mutations is younger than that for sporadic AML.…”
Section: Aml With Germline Cebpa Mutationmentioning
confidence: 99%
See 1 more Smart Citation
“…Érdekes megfigyelés, hogy egyes esetekben a betegség relapsusakor nem ugyanazon szomatikus mutációt hordozó klón jelenik meg újra, hanem egy új, a korábbi vizsgálatok idejé-ben még nem kimutatható klón. Ezek alapján az is felmerül, hogy a visszatérő betegség nem is hagyományos értelemben vett relapsus, hanem egy második de novo AML [18].…”
Section: Cebpa-mutációt Hordozó Familiáris Amlunclassified
“…AML with biallelic mutant CEBPA occurs in individuals who have an initial germline monoallelic mutation in CEBPA, followed by a subsequent acquired, somatic mutation in the second CEBPA allele. This AML entity may occur sporadically or in familial form, with the first family harboring a germline CEBPA mutation and showing autosomal dominant of AML reported in 2004 103 . The germline CEBPA mutation typically occurs in the Nterminal region of the gene, while the somatic, acquired mutation occurs in the C-terminal region.…”
Section: Aml With Mutated Cebpamentioning
confidence: 99%