Modern management of Fanconi anemia - American Society of …
网页2022年12月9日 · Fanconi anemia (FA) is a rare, multisystem, genetic disorder, characterized by bone marrow failure (BMF); somatic malformations; cancer predisposition, mainly for acute myeloid leukemia (AML) and epithelial cancers of the head and neck; and exquisite sensitivity to proinflammatory cytokines and alkylating agents. 1, 2.
Fanconi anemia and the development of leukemia - PMC
网页Fanconi anemia (FA) is a rare autosomal recessive cancer-prone inherited bone marrow failure syndrome, due to mutations in 16 genes, whose protein products collaborate in a DNA repair pathway. The major complications are aplastic anemia, acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and specific solid tumors.
Fanconi anemia and the development of leukemia - PubMed
网页Fanconi anemia (FA) is a rare autosomal recessive cancer-prone inherited bone marrow failure syndrome, due to mutations in 16 genes, whose protein products collaborate in a DNA repair pathway. The major complications are aplastic anemia, acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), ….
网页The only curative option for bone marrow failure (BMF), myelodysplastic syndrome (MDS), or acute myeloid leukemia (AML) in patients with FA is HCT. Survival outcomes following HCT have dramatically improved for patients with FA primarily because of earlier referral for HCT prior to the onset of MDS or
How I treat MDS and AML in Fanconi anemia
网页2016年6月16日 · Distinguish the clonal evolution and development of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) in patients with Fanconi anemia, based on a review. Evaluate the diagnostic workup of and follow-up for development of MDS and AML in patients with Fanconi anemia.
Clinical Care of Fanconi Anemia Hematologic Issues - Fanconi …
网页Most patients with Fanconi anemia (FA) commonly develop hematologic complications that are primarily related to bone marrow failure (BMF). It is thought that the cause of BMF in patients with FA is a faulty DNA repair pathway that damages hematopoietic stem cells (HSCs) (see Chapter 1).
Fanconi anemia: realizing hematopoietic cure | Blood | American …
网页2024年9月19日 · The most common manifestation of FA is bone marrow failure, which occurs in the vast majority (∼90%) of patients by age 40. 4 The other major hematologic abnormalities in patients with FA are myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), the latter of which carries a relative risk ∼700-fold higher compared with the general pop...
Fanconi Anemia - GeneReviews® - NCBI Bookshelf
网页2002年2月14日 · The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA. Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy.
Myelodysplastic Syndrome, Acute Myeloid Leukemia, and …
网页Fanconi anemia (FA) is a DNA repair disorder associated with a high risk of cancer and bone marrow failure. Patients with FA may present with certain dysmorphic features, such as radial ray abnormalities, short stature, typical facies, …
Rare variants in Fanconi anemia genes are enriched in acute myeloid ...
网页2018年6月1日 · FA is caused by bi-allelic germline mutations in any of the 22 FANC genes (except for FANCB and FANCR which are X-linked and autosomal dominant), and is associated with profoundly increased risk of AML 2.