PMID- 30186609
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230928
IS  - 2052-1839 (Print)
IS  - 2052-1839 (Electronic)
IS  - 2052-1839 (Linking)
VI  - 18
DP  - 2018
TI  - A new adult AML case with an extremely complex karyotype, remission and relapse 
      combined with high hyperdiploidy of a normal chromosome set in secondary AML.
PG  - 21
LID - 10.1186/s12878-018-0114-3 [doi]
LID - 21
AB  - BACKGROUND: Chromosomal abnormalities are diagnostic and prognostic key factors 
      in acute myeloid leukemia (AML) patients, as they play a central role for risk 
      stratification algorithms. High hyperdiploidy (HH), a rare cytogenetic 
      abnormality seen commonly in elder male AML patients, is normally categorized 
      under AML with complex karyotype (CK). Accordingly, patients with HH generally 
      are associated with low remission rates and a short overall survival. CASE 
      PRESENTATION: Here we report a case of 21-year-old female, diagnosed with a de 
      novo AML-M1 according to WHO classification and a CK at diagnosis. Cytogenetic, 
      molecular cytogenetic approaches (standard fluorescence in situ hybridization 
      (FISH), array-proven multicolor banding (aMCB)) and high resolution array 
      comparative genomic hybridization (aCGH) analyses revealed a unique complex but 
      still near diploid karyotype involving eleven chromosomes was identified. It 
      included pentasomy 4, three yet unreported chromosomal aberrations 
      t(1;2)(p35;p22), t(1;3)(p36.2;p26.2), and t(10;12)(p15.2;q24.11), and a 
      combination of two cytogenetic events, yet unreported to appear in together, i.e. 
      a reciprocal translocation t(1;3)(p36.2;p26.2) leading to EVI1/PRDM16 gene 
      fusion, and monoallelic loss of tumor suppressor gene TP53. After successful 
      chemotherapeutic treatment the patient experienced a relapse to AML-M1, and she 
      developed secondary AML-M6 with tetraploidy and HH. Unfortunately, the young 
      woman died 8.5 months after initial diagnosis. CONCLUSIONS: To the best of our 
      knowledge, a comparable adult AML associated with such a CK, coexistence of 3q 
      rearrangements with loss of TP53 at diagnosis, and HH in secondary AML were not 
      previously reported. Thus, the combination of the here seen chromosomal 
      aberrations in adult primary AML seems to indicate for an adverse prognosis.
FAU - Wafa, Abdulsamad
AU  - Wafa A
AD  - 1Department of Molecular Biology and Biotechnology, Human Genetics Division, 
      Atomic Energy Commission, Damascus, Syria. ISNI: 0000 0000 9342 9009. GRID: 
      grid.459405.9
FAU - ALmedania, Suher
AU  - ALmedania S
AD  - 1Department of Molecular Biology and Biotechnology, Human Genetics Division, 
      Atomic Energy Commission, Damascus, Syria. ISNI: 0000 0000 9342 9009. GRID: 
      grid.459405.9
FAU - Aljapawe, Abdulmunim
AU  - Aljapawe A
AD  - 2Department of Molecular Biology and Biotechnology, Mammalians Biology Division, 
      Atomic Energy Commission, Damascus, Syria. ISNI: 0000 0000 9342 9009. GRID: 
      grid.459405.9
FAU - Liehr, Thomas
AU  - Liehr T
AD  - 3Institute of Human Genetics, Jena University Hospital, Jena, Germany. ISNI: 0000 
      0000 8517 6224. GRID: grid.275559.9
FAU - Soulaiman, Soulaiman E
AU  - Soulaiman SE
AD  - Department of Haematology-transplantation, Tishreen Hospital, Damascus, Syria.
FAU - Mouna, Raja
AU  - Mouna R
AD  - Department of Haematology-transplantation, Tishreen Hospital, Damascus, Syria.
FAU - Othman, Moneeb A K
AU  - Othman MAK
AD  - 3Institute of Human Genetics, Jena University Hospital, Jena, Germany. ISNI: 0000 
      0000 8517 6224. GRID: grid.275559.9
FAU - ALachkar, Walid
AU  - ALachkar W
AD  - 1Department of Molecular Biology and Biotechnology, Human Genetics Division, 
      Atomic Energy Commission, Damascus, Syria. ISNI: 0000 0000 9342 9009. GRID: 
      grid.459405.9
LA  - eng
PT  - Case Reports
DEP - 20180831
PL  - England
TA  - BMC Hematol
JT  - BMC hematology
JID - 101609487
PMC - PMC6119272
OTO - NOTNLM
OT  - Acute myeloid leukemia
OT  - Array comparative genomic hybridization (aCGH)
OT  - Complex karyotype
OT  - High hyperdiploidy
OT  - Molecular cytogenetics
OT  - Pentasomy 4
OT  - Prognostic factors
COIS- Study procedures were reviewed and approved by the ethical committee of the 
      Atomic Energy Commission, Damascus, Syria Review Board. Written informed consent 
      was obtained from all subjects prior to participation.Written informed consent 
      was obtained from the patient's mother for publication of this case report and 
      accompanying images. A copy of the written consent is available for review by the 
      Editor-in-Chief of this journal.The authors declare that they have no competing 
      interests.Springer Nature remains neutral with regard to jurisdictional claims in 
      published maps and institutional affiliations.
EDAT- 2018/09/07 06:00
MHDA- 2018/09/07 06:01
PMCR- 2018/08/31
CRDT- 2018/09/07 06:00
PHST- 2018/04/26 00:00 [received]
PHST- 2018/08/09 00:00 [accepted]
PHST- 2018/09/07 06:00 [entrez]
PHST- 2018/09/07 06:00 [pubmed]
PHST- 2018/09/07 06:01 [medline]
PHST- 2018/08/31 00:00 [pmc-release]
AID - 114 [pii]
AID - 10.1186/s12878-018-0114-3 [doi]
PST - epublish
SO  - BMC Hematol. 2018 Aug 31;18:21. doi: 10.1186/s12878-018-0114-3. eCollection 2018.