Congenital Acute Leukemia: A Rare Hematological Malignancy

Abstract

Background: Acute leukemia presenting in the neonate and the young infant is a rare hematological malignancy. It may present at birth or within few days (congenital) or it may be diagnosed in first 4-6 weeks of life (neonatal) and may be myeloid or lymphoid in origin. High index of suspicion along with  bone marrow studies, cytochemistry and flow cytometry is the mainstay of diagnosis. Case presentation: We report two cases of congenital acute leukemia presenting in second month of life. The first infant presented with fever, inconsolable crying, loose stools and vomiting of two weeks duration with pallor and hepatosplenomegaly. Lab investigations revealed anemia, leucocytosis and thrombocytopenia with 80% Blasts seen on peripheral blood smear. The bone marrow aspirate was hypercellular with greater than 3% of the blasts positive for myeloperoxidase (MPO). Based on morphology and immunophenotyping (IPT) by flow cytometry a diagnosis of Acute Myeloid Leukemia M2 (AML-M2) was made. The infant was managed with BFM intermediate risk induction protocol. Maintenance therapy was given for 18 months. The infant is in complete clinical and haematological remission. The second infant presented with fever, lethargy, poor feeding and palpable organomegaly. She had similar findings of leucocytosis with 90% blasts on peripheral smear which were negative for MPO. She was diagnosed as a Calla-positive B cell Acute Lymphoblastic Leukemia (ALL). She was managed as per the Interfant collaborative group protocol but succumbed to her illness. Conclusion: Congenital leukemia is characterized by an progressive nature of illness, greater achievement of remission in AML as compared to ALL, higher relapse rate, poor prognosis and difficulty in instituting combination chemotherapy. We report two infants diagnosed with congenital AML-M2 and Calla-positive B cell ALL based on cytochemistry and IPT. Resistance of leukemic cells in congenital ALL to chemotherapeutic drugs entails using a hybrid chemotherapeutic regimen.