Managing individuals with propensity to myeloid malignancies due to germline RUNX1 deficiency.
نویسندگان
چکیده
Publisher's Disclaimer. E-publishing ahead of print is increasingly important for the rapid dissemination of science. Haematologica is, therefore, E-publishing PDF files of an early version of manuscripts that have completed a regular peer review and have been accepted for publication. E-publishing of this PDF file has been approved by the authors. After having E-published Ahead of Print, manuscripts will then undergo technical and English editing, typesetting, proof correction and be presented for the authors' final approval; the final version of the manuscript will then appear in print on a regular issue of the journal. All legal disclaimers that apply to the journal also pertain to this production process.
منابع مشابه
A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies.
We describe a Japanese family with familial platelet disorder with propensity to develop myeloid malignancies (FPD/MM). Among the three affected individuals, two members developed myeloid malignancies. Sequence studies demonstrate that all affected individuals of the pedigree display a heterozygous single nucleotide deletion in exon 8 of the RUNX1 gene.
متن کاملBone marrow pathologic abnormalities in familial platelet disorder with propensity for myeloid malignancy and germline RUNX1 mutation
A subset of patients with familial platelet disorder with propensity to myeloid malignancy and germline RUNX1 mutation develops hematological malignancies, often myelodysplastic syndrome/acute myeloid leukemia, currently recognized in the 2016 WHO classification. Patients who develop hematologic malignancies are typically young, respond poorly to conventional therapy, and need allogeneic stem c...
متن کاملCo-Occurrence of Platelet Dysfunction, Myeloid Malignancy and IgA Deficiency in a Family with a Novel RUNX1 Mutation
Familial platelet disorder with propensity for myeloid malignancy (FPD/AML), an autosomal dominant disorder associated with mutations in the RUNX1 gene, is characterized by mild to moderate thrombocytopenia, abnormal platelet function, and an increased risk of developing myeloid malignancy. We describe a pedigree with a novel RUNX1 mutation in which the prob and presented with mild thrombocytop...
متن کاملFamilial myelodysplasia and acute myeloid leukaemia--a review.
Familial occurrence of myelodysplasia (MDS) and/or acute myeloid leukaemia (AML) is rare but can provide a useful resource for the investigation of predisposing mutations in these myeloid malignancies. To date, examination of families with MDS/AML has lead to the detection of two culprit genes, RUNX1 and CEBPA. Germline mutations in RUNX1 result in familial platelet disorder with propensity to ...
متن کاملFamilial myelodysplastic syndromes: a review of the literature.
Familial cases of myelodysplastic syndromes are rare, but are immensely valuable for the investigation of the molecular pathogenesis of myelodysplasia in general. The best-characterized familial myelodysplastic syndrome is that of familial platelet disorder with propensity to myeloid malignancy, caused by heterozygous germline RUNX1 mutations. Recently, there has been an increase in the number ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Haematologica
دوره 96 12 شماره
صفحات -
تاریخ انتشار 2011