We here report an unusual association of myelodysplastic syndrome, paroxysmal nocturnal hemoglobinuria (PNH), and diffuse large B-cell non-Hodgkin lymphoma (NHL) in a 62- year-old male.PNH is a stem cell disorder caused by a PIG-A gene mutation. As a consequence, blood cells completely or partially lack surface proteins that are tethered to the membrane through the glycosylphosphatidylinositol (GPI) anchor. The resulting absence of CD55 and CD59 molecules on red cells renders them sensitive to complement-mediated intravascular hemolysis and associated hemoglobinuria. In conclusion, in this patient, eculizumab was highly effective in controlling PNH activity and decreasing intravascular hemolysis; it greatly improved the quality of life, reduced the risk for thrombosis, and eliminated the need for blood transfusions, despite the presence of a concomitant MDS with an abnormal karyotype. Death was related due an aggressive form of high grade nHL
Lanza F., Lazzari M. C., Brambilla P., Di Martino G., Spedini P. (2016). An unusual association of paroxysmal nocturnal hemoglobinuria, myelodysplastic syndrome, and diffuse large B-cell non-Hodgkin lymphoma in a Caucasian man. ANNALS OF HEMATOLOGY, 95(9), 1555-1557 [10.1007/s00277-016-2728-5].
An unusual association of paroxysmal nocturnal hemoglobinuria, myelodysplastic syndrome, and diffuse large B-cell non-Hodgkin lymphoma in a Caucasian man
Lanza F.
Primo
Writing – Review & Editing
;
2016
Abstract
We here report an unusual association of myelodysplastic syndrome, paroxysmal nocturnal hemoglobinuria (PNH), and diffuse large B-cell non-Hodgkin lymphoma (NHL) in a 62- year-old male.PNH is a stem cell disorder caused by a PIG-A gene mutation. As a consequence, blood cells completely or partially lack surface proteins that are tethered to the membrane through the glycosylphosphatidylinositol (GPI) anchor. The resulting absence of CD55 and CD59 molecules on red cells renders them sensitive to complement-mediated intravascular hemolysis and associated hemoglobinuria. In conclusion, in this patient, eculizumab was highly effective in controlling PNH activity and decreasing intravascular hemolysis; it greatly improved the quality of life, reduced the risk for thrombosis, and eliminated the need for blood transfusions, despite the presence of a concomitant MDS with an abnormal karyotype. Death was related due an aggressive form of high grade nHLI documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
