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* We report an atypical case of congenital erythroleukemia in a child born with hepatosplenomegaly and abnormal liver tests. The initial peripheral blood cell count showed anemia and hyperleukocytosis with erythroblastosis that disappeared 1 week later. During the next 5 weeks, no blasts were found in the blood, and less than 5% were found on 2 successive bone marrow aspirates. The infant died of hepatic failure. The suspected diagnosis on a premortem liver biopsy was confirmed by an autopsy that showed a blastic infiltration in many organs. These cells expressed only erythroid markers glycophorin A and C. Rearrangement of the myeloid lymphoid leukemia gene was not found by fluorescence in situ hybridization. The main differential diagnoses include metabolic diseases, Langerhans histiocytosis, Pepper syndrome, transient myeloproliferative disorder, and leukemoid reactions. Although some of these can be excluded by the pathologist, others require a multidisciplinary confrontation: clinical, biologic, genetic, and pathologic examinations.
Congenital leukemias are rare, with an incidence of 4.7 per 1 million live births per year, and represent 0.8% of all childhood acute leukemias.1 Unlike leukemias in older children, leukemias with myeloid phenotypes are most frequent in newborns, especially the myeloblastic and myelomonocytic subtypes M4 and M5, respectively, in the French-American-British classification system. 1-3 Erythroleukemias (M6) are exceedingly rare, with only 4 cases reported in the literature.3-6 By definition, congenital leukemias originate in utero, and symptoms are present at birth or in the first 4 weeks of life.2 Diagnosis requires the presence of leukemic blasts in the bone marrow and/or the involvement of nonhematopoietic tissues as well as the absence of any disease that can cause leukemoid reactions mimicking congenital leukemia.1,3 Additional criteria that some authors consider necessary include autopsy confirmation and the absence of trisomy 21, which may be associated with abnormal hematopoiesis.1,2 Pathologists are rarely confronted with leukemias, which are usually diagnosed on the bone marrow aspirate.2 We report a case of congenital erythroleukemia, without blasts in the peripheral blood, that was suspected on hepatic biopsy and confirmed by autopsy.
REPORT OF A CASE
A male neonate, weighing 2.46 kg, was born to a healthy 34-year-old gravida 2, para 2 mother at 34.5 weeks of gestation by cesarean section because of fetal cardiac rhythm abnormalities. The pregnancy history was unremarkable. There was...