Simona Pagliuca

Nov 21, 2024 | nature.com | Carlos Bravo-Pérez |Yasuo Kubota |Simona Pagliuca |Danai Dima |Hetty Carraway |Valeria Visconte

AbstractPast studies described occasional patients with myeloid neoplasms (MN) and coexistent large granular lymphocytic leukemia (LGLL) or T-cell clonopathy of unknown significance (TCUS), which may represent expansion of myeloid clonal hematopoiesis (CH) as triggers or targets of clonal cytotoxic T cell reactions. We retrospectively analyzed 349 LGLL/TCUS patients, 672 MN patients, and 1443 CH individuals to establish the incidence, genetic landscape, and clinical phenotypes of CH in LGLL.

May 11, 2024 | nature.com | Hussein Awada |Tariq Kewan |Danai Dima |Hassan Awada |Simona Pagliuca |Valeria Visconte

To the Editor:Karyotypic aberrations of chromosome (chr) 6 include duplications (trisomy 6 [+6]), deletions of its short arm (del6p), uniparental disomy 6p (UPD6p), as well as various microduplications and microdeletions. Lesions involving 6p are of particular interest as they point toward HLA locus involvement, including loss of heterozygosity and/or haploinsufficiency, as pathogenic drivers resulting from deletions and UPD6p [1, 2].