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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

Overview of attention for article published in BMC Hematology, August 2018
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Title
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
Published in
BMC Hematology, August 2018
DOI 10.1186/s12878-018-0114-3
Pubmed ID
Authors

Abdulsamad Wafa, Suher ALmedania, Abdulmunim Aljapawe, Thomas Liehr, Soulaiman E. Soulaiman, Raja Mouna, Moneeb A. K. Othman, Walid ALachkar

Abstract

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. 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. 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.

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Mendeley readers

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Geographical breakdown

Country Count As %
Unknown 10 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 2 20%
Student > Doctoral Student 1 10%
Student > Ph. D. Student 1 10%
Student > Bachelor 1 10%
Researcher 1 10%
Other 1 10%
Unknown 3 30%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 4 40%
Medicine and Dentistry 2 20%
Agricultural and Biological Sciences 1 10%
Unknown 3 30%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 07 September 2018.
All research outputs
#20,532,290
of 23,102,082 outputs
Outputs from BMC Hematology
#66
of 82 outputs
Outputs of similar age
#292,040
of 335,281 outputs
Outputs of similar age from BMC Hematology
#7
of 11 outputs
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