Congenital Acute Lymphoblastic Leukemia Case with a Novel t(2:4:11) (p21:q21:q23) Translocation

Abstract

Herewith, we present a rare case of a 6-day-old male neonate, born at 40 weeks’ gestation, in whom the diagnosis of congenital acute lymphoblastic leukemia (cALL) was established, characterized by the immunophenotype of the most immature B-cell precursors (pro pro-B-ALL). The initial clinical/laboratory manifestations were leucocytosis, hepatosplenomegaly, anemia, thrombocytopenia, cutaneous lesions known as “leukemia cutis,” and CNS involvement. Cytogenetic testing revealed an extremely rare novel complex chromosomal translocation t(2:4:11) (p21:q21:q23) associated with the rearrangement of MLL gene. The child was treated with the chemotherapy protocol INTERFANT ‘99 but one month after birth developed multiple organ failure and died. The cutaneous lesions were located on the right cheek and left forearm and included nontender, magenta tan papules and nodules with sizes ranging from 3.5 to 1.7 cm (Figure 1). The liver was palpable 4 cm while the spleen 5 cm below the costal margins. The history of the child during the antenatal period was uneventful. The mother first trimester TORCH results were negative and there was no history of exposure to radiation or drugs during pregnancy. Laboratory investigations were: hb 13.5 g/dL, hct 40.2%, WBC 169.000/mm 3 (89% lymphoblasts, 5% neutrophils, 6% lymphocytes), and PLT 42.000/mm 3 . The reticulocyte count was 2.5%, and LDH was 2.265 U/L. Blood and urine culture were negative and serologic testing was not indicative of congenital infection with toxoplasma, rubella, CMV, HSV, syphilis, Epstein Barr, HIV, HAV, HBV, and HCV. Chest radiograph and cranial ultrasound were normal. Bone marrow aspiration revealed