Congenital acute megakaryocytic leukemia

Abstract

Congenital leukemia (CL) is an extremely rare disorder in the newborn, significant proportion of which is of myeloid origin, primarily of M4 or M5 morphology. As compared to pediatric leukemia, CL is a more aggressive disease. Acute myeloid leukemia (AML-M7) or acute megakaryocytic leukemia is a rare type of AML with an incidence of 0.5 per million per year. Median age of presentation is 6 years, and children may present with a broad variety of symptoms including low-grade fever, diarrhea, easy bruising, failure to gain weight and life-threatening conditions.

An Unusual Case of Myeloperoxidase-Positive Acute Megakaryoblastic Leukemia

“…Diagnosis of AMKL relies on multiple criteria including morphology, immunophenotyping, cytochemical stain, and ultrastructural studies [ 1 ]. The standard for diagnosis is demonstration of platelet glycoprotein (GP)-CD41 (GP IIb/IIIa) and/or CD61 (GP IIIa) by immunophenotyping.…”

“…Reactivity with α-naphthyl acetate, but not with α-naphthyl butyrate, a different substrate for NSE, is characteristic of megakaryoblasts [ 4 ]. An ultrastructural platelet peroxidase reaction by cytochemistry, while difficult to perform, is also diagnostic for megakaryoblasts [ 1 ]. Megakaryoblasts also show acid phosphatase reactivity localizing to the Golgi [ 4 ].…”