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Central European Journal of Immunology
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vol. 43
Case report

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

Dawid Szpecht, Jolanta Skalska-Sadowska, Barbara Michniewicz, Janusz Gadzinowski, Ludmiła Machowska, Anna Pieczonka, Anna Przybyłowicz-Chalecka, Zuzanna Kanduła, Małgorzata Jarmuż-Szymczak, Krzysztof Lewandowski, Jacek Wachowiak

(Centr Eur J Immunol 2018; 43 (3): 346-352)
Online publish date: 2018/10/30
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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 5th day of life.

newborn, congenital leukemia, mixed phenotype acute leukemia

van der Linden MH, Creemers S, Pieters R (2017): Diagnosis and management of neonatal leukaemia. Semin Fetal Neonatal Med 17: 192-195. doi: 10.1016/j.siny.2012.03.003
Lillington DM, Young BD, Berger R, et al. (1998): The t(10;11)(p12;q23) translocation in acute leukaemia: a cytogenetic and clinical study of 20 patients. European 11q23 Workshop participants. Leukemia 12: 801-804.
Pansy J, Morris N, Resch B (2015): Extensive blueberry muffin rash in a neonate. Arch Dis Child Fetal Neonatal Ed 100: F115.
Dinulos JG, Hawkins DS, Clark BS, Francis JS (1997): Spontaneous remission of congenital leukemia. J Pediatr 131: 300-303. doi: 10.1016/S0022-3476(97)70170-7
Meyer C, Hofmann J, Burmeister T, et al. (2013): The MLL recombinome of acute leukemias in 2013. Leukemia 27: 2165-2176. doi: 10.1038/leu.2013.135
Ergin H, Özdemir ÖM, Karaca A, et al. (2015): A newborn with congenital mixed phenotype acute leukemia after in vitro fertilization. Pediatr Neonatol 56: 271-274. doi: 10.1016/j.pedneo.2013.03.016
Dworzak MN, Buldini B, Gaipa G, et al. (2018): AIEOP-BFM consensus guidelines 2016 for flow cytometric immunophenotyping of pediatric acute lymphoblastic leukemia. Cytometry B Clin Cytom 94: 82-93. doi: 10.1002/cyto.b.21518
Burmeister T, Meyer C, Gröger D, et al. (2017): Evidence-based RT-PCR methods for the detection of the 8 most common MLL aberrations in acute leukemias. Leuk Res 39: 242-247. doi: 10.1016/j.leukres.2014.11.017
Bresters D, Reus AC, Veerman AJP, et al. (2002): Congenital leukaemia: The Dutch experience and review of the literature. Br J Haematol 117: 513-524. doi: 10.1046/j.1365-2141.2002.03459.x
Bayhan T, Çiki K, Tavil B, et al. (2015): An infant with congenital leukemia cutis and AML-M5 with MLL gene rearrangement. J Pediatr Hematol Oncol 37: 566-567.
Picone S, Aufieri R, Bressan K, Paolillo P (2014): Leukemia cutis in an infant with congenital leukemia and tetralogy of fallot. J Clin Neonatol 3: 122-123. doi: 10.4103/2249-4847.134715
Lee EG, Kim TH, Yoon MS, Lee HJ (2013): Congenital leukemia cutis preceding acute myeloid leukemia with t(9;11)(p22;q23), MLL-MLLT3. J Dermatol 40: 570-571. doi: 10.1111/1346-8138.12164
Isaacs H (2003): Fetal and neonatal leukemia. J Pediatr Hematol Oncol 25: 348-361. doi: 10.1097/00043426-200305000-00002
Balgobind BV, Raimondi SC, Harbott J, et al. (2009): Novel prognostic subgroups in childhood 11q23/<em>MLL</em>-rearranged acute myeloid leukemia: results of an international retrospective study. Blood 114: 2489-2496.
Swerdlow SH, Campo E, Harris NL, et al. (2008): WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. Lyon, France. World Health Organ Classification Tumours Haematop Lymphoid Tissue. doi: 10.1017/CBO9781107415324.004
Morerio C, Rapella A, Tassano E, et al. (2005): MLL-MLLT10 fusion gene in pediatric acute megakaryoblastic leukemia. Leuk Res 29: 1223-1226. doi: 10.1016/j.leukres.2005.03.008
DiNardo CD, Tang G, Pemmaraju N, et al. (2015): Acute myeloid leukemia with t(10;11): a pathological entity with distinct clinical presentation. Clin Lymphoma Myeloma Leuk 15: 47-51. doi: 10.1016/j.clml.2014.06.022
Klaus M, Schnittger S, Haferlach T, et al. (2003): Cytogenetics, fluorescence in situ hybridization, and reverse transcriptase polymerase chain reaction are necessary to clarify the various mechanisms leading to an MLL-AF10 fusion in acute myelocytic leukemia with 10;11 rearrangement. Cancer Genet Cytogenet 144: 36-43. doi: 10.1016/S0165-4608(02)00876-2
Gore L, Ess J, Bitter MA, et al. (2000): Protean clinical manifestations in children with leukemias containing MLL-AF10 fusion. Leukemia 14: 2070-2075. doi: 10.1038/sj.leu.2401966
Beverloo HB, Le Coniat M, Wijsman J, et al. (1995): Breakpoint heterogeneity in t(10;11) translocation in AML-M4/M5 resulting in fusion of AF10 and MLL is resolved by fluorescent in situ hybridization analysis. Cancer Res 55: 4220-4224.
Morerio C, Rosanda C, Rapella A, et al. (2002): Is t(10;11)(p11.2;q23) involving MLL and ABI-1 genes associated with congenital acute monocytic leukemia? Cancer Genet Cytogenet 139: 57-59. doi: 10.1016/S0165-4608(02)00616-7
Stasevich I, Utskevich R, Kustanovich A, et al. (2006): Translocation (10;11)(p12;q23) in childhood acute myeloid leukemia: incidence and complex mechanism. Cancer Genet Cytogenet 169: 114-120. doi: 10.1016/j.cancergencyto.2006.03.011
Angioni A, La Starza R, Mecucci C, et al. (1998): Interstitial insertion of AF10 into the ALL1 gene in a case of infant acute lymphoblastic leukemia. Cancer Genet Cytogenet 107: 107-110. doi: 10.1016/S0165-4608(98)00105-8
Gyárfás T, Wintgens J, Biskup W, et al. (2016): Transient spontaneous remission in congenital MLL-AF10 rearranged acute myeloid leukemia presenting with cardiorespiratory failure and meconium ileus. Mol Cell Pediatr 3: 30. doi: 10.1186/s40348-016-0061-7
Rubnitz JE, Onciu M, Pounds S, et al. (2009): Acute mixed lineage leukemia in children: the experience of St Jude Children’s Research Hospital. Blood 113: 5083-5089.
Porwit A, Béné MC (2015): Acute leukemias of ambiguous origin. Am J Clin Pathol 144: 361-376. doi: 10.1309/AJCPSTU55DRQEGTE
Matutes E, Pickl WF, Van’t Veer M, et al. (2011): Mixed-phenotype acute leukemia: clinical and laboratory features and outcome in 100 patients defined according to the WHO 2008 classification. Blood 117: 3163-3171.
Lou Z, Zhang CC, Tirado CA, et al. (2010): Infantile mixed phenotype acute leukemia (bilineal and biphenotypic) with t(10;11)(p12;q23);MLL-MLLT10. Leuk Res 34: 1107-1109. doi: 10.1016/j.leukres.2010.02.029
Wolach O, Stone RM (2017): Mixed-phenotype acute leukemia: current challenges in diagnosis and therapy. Curr Opin Hematol 24: 139-145.
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