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

• Published in: Central-European journal of immunology Vol. 43; no. 3; pp. 346 - 352
• Main Authors: Szpecht, Dawid, Skalska-Sadowska, Jolanta, Michniewicz, Barbara, Gadzinowski, Janusz, Machowska, Ludmiła, Pieczonka, Anna, Przybyłowicz-Chalecka, Anna, Kanduła, Zuzanna, Jarmuż-Szymczak, Małgorzata, Lewandowski, Krzysztof, Wachowiak, Jacek
• Format: Journal Article
• Language: English
• Published: Warsaw Termedia Publishing House 01.01.2018
• Subjects: Acute lymphoblastic leukemia; Acute myeloid leukemia; CD11c antigen; CD13 antigen; CD14 antigen; CD19 antigen; CD34 antigen; CD36 antigen; CD4 antigen; CD7 antigen; Chemotherapy; Children; congenital leukemia; Flow cytometry; Genotype & phenotype; Histocompatibility antigen HLA; Leukemia; Lymphatic leukemia; mixed phenotype acute leukemia; Monocytes; Myeloid leukemia; Neonates; newborn; Phenotypes
• ISSN: 1426-3912; 1644-4124
• DOI: 10.5114/ceji.2018.80056

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 5th day of life.