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A pediatric BAL case with double Ph chromosomes and trisomy 5

      Highlights

      • A few genetic abnormalities are detected in BAL cases.
      • The most found genetic abnormalities in BAL are MLL rearrangement and t(9;22).
      • Trisomy 5 is very rare in BAL, and was reported as included in hyperdiploid karyotype.
      • The our case report is unique in literature in terms of detecting double Ph chromosomes and trisomy 5.

      Abstract

      Biphenotypic acute leukemias (BAL) are known as a type of leukemia involving cells with myeloid and along with lymphoid origin, in which genomic changes are detected. It has been stated that the most common genomic changes in BAL are t(9;22) and the translocations of the 11q23 region, these anomalies cause poor prognostic effects. We detected trisomy 5 (+5) in addition to the double Ph chromosome in a case where we investigated the genomic changes using molecular and conventional cytogenetic methods. Bone marrow transplantation was planned due to the poor response to prednisone. According to the information we have obtained, our report will be the first article to discuss the aberrations found in addition to the Ph chromosome in BAL and the effect of these aberrations on prognosis. However, the double observation of the Ph chromosome, which has a poor prognostic effect, is expected to affect the prognosis more negatively, this case will contribute to the literature in terms of trisomy 5. We think that more case reports are needed to reveal the anomalies and their prognostic significance in BAL.

      Keywords

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      References

        • Yu J.
        • Li Y.
        • Xing H.
        • Pan Y.
        • Sun H.
        • Wan D.
        • Liu Y.
        • Xie X.
        • Wang C.
        • Sun L.
        • Sun K.
        • Jiang Z.
        Clinical characteristics and outcome of biphenotypic acute leukemia: 10 case reports and literature review.
        Cancer Manag Res. 2019; 11: 9297-9306
        • Alexander T.B.
        • Gu Z.
        • Iacobucci I.
        • Dickerson K.
        • Choi J.K.
        • Xu B.
        • Payne-Turner D.
        • Yoshihara H.
        • Loh M.L.
        • Horan J.
        • Buldini B.
        • Basso G.
        • Elitzur S.
        • de Haas V.
        • Zwaan C.M.
        • Yeoh A.
        • Reinhardt D.
        • Tomizawa D.
        • Kiyokawa N.
        • Lammens T.
        • De Moerloose B.
        • Catchpoole D.
        • Hori H.
        • Moorman A.
        • Moore A.S.
        • Hrusak O.
        • Meshinchi S.
        • Orgel E.
        • Devidas M.
        • Borowitz M.
        • Wood B.
        • Heerema N.A.
        • Carrol A.
        • Yang Y.L.
        • Smith M.A.
        • Davidsen T.M.
        • Hermida L.C.
        • Gesuwan P.
        • Marra M.A.
        • Ma Y.
        • Mungall A.J.
        • Moore R.A.
        • Jones S.J.M.
        • Valentine M.
        • Janke L.J.
        • Rubnitz J.E.
        • Pui C.H.
        • Ding L.
        • Liu Y.
        • Zhang J.
        • Nichols K.E.
        • Downing J.R.
        • Cao X.
        • Shi L.
        • Pounds S.
        • Newman S.
        • Pei D.
        • Guidry Auvil J.M.
        • Gerhard D.S.
        • Hunger S.P.
        • Inaba H.
        • Mullighan C.G.
        The genetic basis and cell of origin of mixed phenotype acute leukaemia.
        Nature. 2018; 562: 373-379
        • Kang Z.J.
        • Liu Y.F.
        • Xu L.Z.
        • Long Z.J.
        • Huang D.
        • Yang Y.
        • Liu B.
        • Feng J.X.
        • Pan Y.J.
        • Yan J.S.
        • Liu Q.
        The Philadelphia chromosome in leukemogenesis.
        Chin J Cancer. 2016; 35: 48
        • Mrózek K.
        • Harper D.P.
        • Aplan P.D.
        Cytogenetics and molecular genetics of acute lymphoblastic leukemia.
        Hematol Oncol Clin North Am. 2009; 23 (v): 991-1010
      1. Ma, E.S., & Wan, T.S. . + 5 or Trisomy 5. Atlas of genetics and cytogenetics in oncology and haematology 2002.

        • Killick S.
        • Matutes E.
        • Powles R.L.
        • Hamblin M.
        • Swansbury J.
        • Treleaven J.G.
        • Zomas A.
        • Atra A.
        • Catovsky D.
        Outcome of biphenotypic acute leukemia.
        Haematologica. 1999; 84: 699-706
        • Ríos R.
        • Solé F.
        • Montes C.
        • Vicente A.
        • Pérez M.M.
        • Valle M.
        • Gascón F.
        A new case of trisomy 5 as sole cytogenetic anomaly in acute myeloid leukemia.
        Cancer Genet Cytogenet. 1995; 84: 120-122
        • Ansell S.M.
        • Rapoport B.L.
        • Coccia-Portugal M.A.
        • Stevens K.
        • Bester C.J.
        • Falkson G.
        Trisomy 5 in Ph+ chronic myeloid leukemia in association with megakaryocytosis.
        Cancer Genet Cytogenet. 1991; 51: 273-275
        • Smadja N.
        • Varette C.
        • Louvet C.
        • Gramont A.
        • Krulik M.
        A case of trisomy 5 in a Philadelphia positive leukemia.
        Cancer Genet Cytogenet. 1992; 61: 216-217
        • Sandoval C.
        • Mayer S.P.
        • Ozkaynak M.F.
        • Tugal O.
        • Jayabose S.
        Trisomy 5 as a sole cytogenetic abnormality in pediatric acute lymphoblastic leukemia.
        Cancer Genet Cytogenet. 2000; 118: 69-71
        • Harris R.L.
        • Harrison C.J.
        • Martineau M.
        • Taylor K.E.
        • Moorman A.V.
        Is trisomy 5 a distinct cytogenetic subgroup in acute lymphoblastic leukemia?.
        Cancer Genet Cytogenet. 2004; 148: 159-162
        • Durmaz B.
        • Durmaz A.A.
        • Karaca E.
        • Saydam G.
        • Cogulu O.
        • Ozkınay F.
        A case of acute lymphoblastic leukemia with additional chromosomes X and 5 associated with a Philadelphia chromosome in the bone marrow.
        Turk J Haematol. 2010; 27: 299-302
        • Tang Y.L.
        • Raja Sabudin R.Z.
        • Leong C.F.
        • Ko C.C.
        • Chia W.K.
        • Salwati S.
        • Wong C.L.
        Double Philadelphia chromosome-positive B acute lymphoblastic leukaemia in an elderly patient.
        Malays J Pathol. 2015; 37: 275-279