BACKGROUND: Inherited bone marrow failure syndromes (IBMFS) and acquired aplastic anemia (AA) are life-threatening marrow failure disorders. These entities can be difficult to distinguish because they present similarly. Correct diagnosis is imperative for proper therapy. DESIGN AND METHODS: This is a retrospective, single-center study of patients <40 yr of age, evaluated for bone marrow failure, and assayed for the presence of a PNH clone in the pediatric or adult hematology/oncology clinics from 2001 to present. Patients were also evaluated for IBMFS. RESULTS: We present results from 156 patients with marrow failure, 20 of whom have IBMFS. None of the IBMSF patients had paroxysmal nocturnal hemoglobinuria (PNH) clones. CONCLUSIONS: Although further studies are needed, our results suggest that the detection of a PNH clone can be a useful diagnostic tool to exclude the diagnosis of IBMFS and focus the work-up and treatment on an acquired form of marrow failure.
BACKGROUND:Inherited bone marrow failure syndromes (IBMFS) and acquired aplastic anemia (AA) are life-threatening marrow failure disorders. These entities can be difficult to distinguish because they present similarly. Correct diagnosis is imperative for proper therapy. DESIGN AND METHODS: This is a retrospective, single-center study of patients <40 yr of age, evaluated for bone marrow failure, and assayed for the presence of a PNH clone in the pediatric or adult hematology/oncology clinics from 2001 to present. Patients were also evaluated for IBMFS. RESULTS: We present results from 156 patients with marrow failure, 20 of whom have IBMFS. None of the IBMSF patients had paroxysmal nocturnal hemoglobinuria (PNH) clones. CONCLUSIONS: Although further studies are needed, our results suggest that the detection of a PNH clone can be a useful diagnostic tool to exclude the diagnosis of IBMFS and focus the work-up and treatment on an acquired form of marrow failure.
Authors: Michael J Borowitz; Fiona E Craig; Joseph A Digiuseppe; Andrea J Illingworth; Wendell Rosse; D Robert Sutherland; Carl T Wittwer; Stephen J Richards Journal: Cytometry B Clin Cytom Date: 2010-07 Impact factor: 3.058
Authors: R A Brodsky; G L Mukhina; S Li; K L Nelson; P L Chiurazzi; J T Buckley; M J Borowitz Journal: Am J Clin Pathol Date: 2000-09 Impact factor: 2.493
Authors: Amy E DeZern; Marianna L Zahurak; Heather J Symons; Kenneth R Cooke; Gary L Rosner; Douglas E Gladstone; Carol Ann Huff; Lode J Swinnen; Philip Imus; Ivan Borrello; Nina Wagner-Johnston; Richard F Ambinder; Leo Luznik; Javier Bolaños-Meade; Ephraim J Fuchs; Richard J Jones; Robert A Brodsky Journal: Blood Adv Date: 2020-04-28