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

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-phenotyp...

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Bibliographic Details
Published in:Central-European journal of immunology 2018-01, Vol.43 (3), p.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: Article
Language:English
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
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Summary: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.
ISSN:1426-3912
1644-4124
DOI:10.5114/ceji.2018.80056