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Leukemia and Lymphoma: A Focus on Molecular Genetics Research

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Oncology".

Deadline for manuscript submissions: closed (20 June 2025) | Viewed by 1024

Special Issue Editor

Special Issue Information

Dear Colleagues,

In the last two decades, as a result of high throughput whole genome next generation sequencing, the number of genetic aberrations found in hematopoietic malignancies has increased exponentially. This has led to a better understanding of the pathogenesis of leukemia and lymphoma. Yet, to date, with few exceptions, the increased knowledge of genetic alterations has not sufficiently resulted in new treatment options and better prognosis for the patients.

The aim of this Special Issue is to report novel genomic, epigenomic, transcriptomic, proteomic or metabolomic alterations in leukemia and lymphoma, as well as functional studies unraveling, or verifying their contribution to the malignant transformation, cancer development or progression. Translational research to implement gained knowledge for leukemia and lymphoma treatment are also welcome. Original and review articles are invited.

Prof. Dr. Grzegorz Przybylski
Guest Editor

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Keywords

  • genomic
  • leukemia
  • lymphoma
  • molecular
  • pathogenesis

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Published Papers (1 paper)

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Research

14 pages, 1586 KiB  
Article
Genomic Profile and Clinical Outcomes in Acute Myeloid Leukemia with Monosomal Karyotype
by Collins Wangulu, Ehsan Bahrami Hezaveh, Mojgan Zarif, Qianghua Zhou, Winnie Lo, Cuihong Wei, Hassan Sibai and Hong Chang
Int. J. Mol. Sci. 2025, 26(12), 5845; https://doi.org/10.3390/ijms26125845 - 18 Jun 2025
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Abstract
The biology of Monosomal Karyotype Acute Myeloid Leukemia (MK AML) remains unclear, and its mutational profile has not been exclusively assessed. We sought to determine the genomic profile of MK AML patients and its correlation with overall survival (OS). We conducted a retrospective [...] Read more.
The biology of Monosomal Karyotype Acute Myeloid Leukemia (MK AML) remains unclear, and its mutational profile has not been exclusively assessed. We sought to determine the genomic profile of MK AML patients and its correlation with overall survival (OS). We conducted a retrospective study involving 664 AML patients, identifying 156 (23.5%) with MK AML. The most common monosomies were -17 (41%) and -7 (37%), with 149 (95%) and 138 (88%) having myelodysplasia-related (MR) cytogenetics and complex karyotype (CK), respectively. Frequent mutations included TP53 (69%), DNMT3A (19%), TET2 (13%), and IDH1 (7%). Patients with MK AML with TP53 mutation (TP53 Mut) had shorter OS compared to those with TP53 wild-type (WT) (median OS, 3.9 versus 9.2 months, p = 0.002). Our validation study further supports this finding. There was no significant difference in OS related to the presence or absence of CK (p = 0.252), MR mutations (p = 0.252), DNMT3A (p = 0.264), TET2 (p = 0.264), and IDH1 (p = 0.183) alterations. Co-mutation with novel EPI6 and TAZI signature alterations did not significantly impact OS among MK AML TP53 Mut patients, suggesting that TP53 Mut remains the dominant driver of outcome in this subgroup. In conclusion, MK AML is a genotypically diverse and high-risk group, with MK AML TP53 Mut indicating worse prognosis. Full article
(This article belongs to the Special Issue Leukemia and Lymphoma: A Focus on Molecular Genetics Research)
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