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neonatal congenital leukemia (Cl) constitutes less than 1% of all childhood leukemia cases and is diagnosed in 1 to 5 per million live births. in the neonatal period acute myeloid leukemia (aMl) is described in 56-64% of cases, acute lymphoblastic leukemia (all) in 21-38% of cases and mixed-phenotype acute leukemia (Mpal) in less than 5% of cases. rearrangements of the mixed-lineage leukemia (kMt2a alias Mll) gene are found in > 70% of infant leukemia cases. the incidence of the most frequent kMt2a rearrangements in newborns with congenital Mpal is unknown. we report a male term newborn with “blueberry muffin” syndrome, which had been noted at birth, as a presenting sign of acute leukemia. eight-color multiparameter flow cytometry showed a blast population corresponding to a myeloid lineage with monocytic differentiation positive for CD33+/CD15+/CD11c+/CD64+/ hLa-dr+/cd4+, negative for mPo–/cd34–/cd19–/cd79a–/cd117–/cd13–/cd14–/cd36–/ccd3–/ cd2–/cd7–, and additionally positive for scd3 (40%). mixed-phenotype acute leukemia according to the world health organization (who) classification was diagnosed with complex translocation t(10;11)(p12;q23) with kMt2a/Mllt10 rearrangement. the patient had an unfavorable response to chemotherapy and died on the 5 day of life.

central-european journal of immunology/central european journal of immunology

A newborn with congenital mixed phenotype acute leukemia with complex translocation t(10;11)(p12;q23) with KMT2A/MLLT10 rearranged – a report of an extremely rare case