June 14, 2022

The Genomic Landscape in Philadelphia-Negative Myeloproliferative Neoplasm Patients with Second Cancers

Chia-Chen Hsu 1,† ; Ying-Hsuan Wang 1,†; Yi-Yang Chen 1; Ying-Ju Chen 1; Chang-Hsien Lu 1,2; Yu-Ying Wu 1: Yao-Ren Yang 1; Hsing-Yi Tsou 1; Chian-Pei Li 1; Cih-En Huang 1,2,*; Chih-Cheng Chen 1,2,*

1 Division of Hematology and Oncology, Department of Medicine, Chang Gung Memorial Hospital, Chiayi 61363, Taiwan

2 College of Medicine, Chang Gung University, Tao-Yuan 33302, Taiwan

* Authors to whom correspondence should be addressed.

These authors contributed equally to this work.

Academic Editor: Fiorina Giona

Philadelphia-chromosome-negative myeloproliferative neoplasms (MPNs) are a group of clonal hematopoietic stem cell diseases distinguished by the increased creation of differentiated myeloid cells. MPNs patients are predisposed to developing second cancers (SCs). Epidemiological studies have demonstrated an increased risk of SCs in MPNs, but the molecular basis resulting in the development of SCs in MPNs patients remains elusive. 

To research the genetic background of SCs in MPNs patients, Hsu, et al. (2022, PMID: 35884495) analyzed 26 MPNs samples, as well as 26 age and gender-matched MPN control patients without SCs, with exome sequencing and Geneyx Analysis. The results showed that the most frequent variants found were missense and that the median number of variants was very similar between the two groups (patients had 77.5 while controls had 74 variants per sample). However, one novel finding was that the MNP-SC group was enriched with variants associated with essential immune-related pathways and inflammatory networks.  

The authors concluded that, in spite of the fact that the pattern of genomic variations in MPN–SC cases is not significantly different from that of control individuals, mutated genes in MPN–SC samples were enriched in some essential immune-related pathways and inflammatory networks, noting that inflammation could be crucial in MPN–SC pathogenesis. 

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