Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults.
Philadelphia, United States. In Leuk Lymphoma, Jan 2016
Here, we provide a practical algorithm for approaching a patient with a suspected MDS/AML predisposition, and provide an in-depth review of the established and emerging familial MDS/AML syndromes caused by mutations in the ANKRD26, CEBPA, DDX41, ETV6, GATA2, RUNX1, SRP72 genes.
Genetic predisposition syndromes: when should they be considered in the work-up of MDS?
Philadelphia, United States. In Best Pract Res Clin Haematol, Mar 2015
In addition to the classic hereditary bone marrow failure syndromes (BMFS) such as Fanconi Anemia and Dyskeratosis Congenita, in recent years there has been an increased awareness of non-syndromic familial MDS/AML predisposition syndromes such as those caused by mutations in GATA2, RUNX1, CEBPA, and SRP72 genes.
[Histological and molecular alterations in inflammatory myopathies].
Guadalajara, Mexico. In Reumatol Clin, 2009
In this chapter we will review the histological and molecular findings of inflammatory myopathies but we will also discuss a special group of myopathies related to the presence of antibodies against the SRP complex, in particular the SRP72 and SRP54 antibodies, which are associated with a poor prognosis and clinical outcome and present an inadequate response to conventional treatment.