538f9c5a42cfbd7ee93870332ab5a763 cancers-14-05531_8_.pdf dadf91c34ab9327ce06b6f707872fb1989f7496f cancers-14-05531_8_.pdf b9edb90999ca64d2780cdf2ac0108202c180743d4b280f9a5547d2fd1e5d3962 cancers-14-05531_8_.pdf Title: Myelodysplastic Syndromes with Isolated del(5q): Value of Molecular Alterations for Diagnostic and Prognostic Assessment Subject: Myelodysplastic syndromes (MDS) are a group of clonal hematological neoplasms characterized by ineffective hematopoiesis in one or more bone marrow cell lineages. Consequently, patients present with variable degrees of cytopenia and dysplasia. These characteristics constitute the basis for the World Health Organization (WHO) classification criteria of MDS, among other parameters, for the current prognostic scoring system. Although nearly half of newly diagnosed patients present a cytogenetic alteration, and almost 90% of them harbor at least one somatic mutation, MDS with isolated del(5q) constitutes the only subtype clearly defined by a cytogenetic alteration. The results of several clinical studies and the advances of new technologies have allowed a better understanding of the biological basis of this disease. Therefore, since the first report of the “5q- syndrome” in 1974, changes and refinements have been made in the definition and the characteristics of the patients with MDS and del(5q). Moreover, specific genetic alterations have been found to be associated with the prognosis and response to treatments. The aim of this review is to summarize the current knowledge of the molecular background of MDS with isolated del(5q), focusing on the clinical and prognostic relevance of cytogenetic alterations and somatic mutations. Keywords: myelodysplastic syndromes; chromosome 5q deletion; somatic mutations; cytogenetic alterations Author: Pamela Acha, Mar Mallo and Francesc Solé Creator: LaTeX with hyperref Producer: pdfTeX-1.40.21 CreationDate: Thu Nov 10 13:56:18 2022 CET ModDate: Thu Nov 10 13:59:25 2022 CET Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 13 Encrypted: no Page size: 595.276 x 841.89 pts (A4) Page rot: 0 File size: 1427463 bytes Optimized: no PDF version: 1.7 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- CZRCNO+VnURWPalladioL Type 1 Custom yes yes no 10 0 PAFORI+URWPalladioL-Bold Type 1 Custom yes yes no 15 0 UAAYFV+URWPalladioL-Roma Type 1 Custom yes yes no 20 0 AVFSFC+URWPalladioL-Ital Type 1 Custom yes yes no 24 0 BTFGED+VnURWPalladioL-Bold Type 1 Custom yes yes no 28 0 LCJEVJ+TimesNewRomanPS-BoldItalicMT Type 1C WinAnsi yes yes no 47 0 DNCBMG+PalatinoLinotype-Bold CID TrueType Identity-H yes yes yes 75 0 DNCBMH+PalatinoLinotype-Roman CID TrueType Identity-H yes yes yes 81 0 DNCBPG+PalatinoLinotype-Italic CID TrueType Identity-H yes yes yes 87 0 DNCBPH+PalatinoLinotype-Italic TrueType WinAnsi yes yes no 93 0 DNCBPI+PalatinoLinotype-Bold TrueType WinAnsi yes yes no 96 0 DNCBPJ+PalatinoLinotype-Roman TrueType WinAnsi yes yes no 99 0 DNCBMG+PalatinoLinotype-Bold CID TrueType Identity-H yes yes yes 109 0 DNCBMH+PalatinoLinotype-Roman CID TrueType Identity-H yes yes yes 115 0 DNCBPG+PalatinoLinotype-Italic CID TrueType Identity-H yes yes yes 121 0 DNCBPH+PalatinoLinotype-Italic TrueType WinAnsi yes yes no 127 0 DNCBPI+PalatinoLinotype-Bold TrueType WinAnsi yes yes no 130 0 DNCBPJ+PalatinoLinotype-Roman TrueType WinAnsi yes yes no 133 0 DNCBMG+PalatinoLinotype-Bold CID TrueType Identity-H yes yes yes 144 0 DNCBMH+PalatinoLinotype-Roman CID TrueType Identity-H yes yes yes 150 0 DNCBPG+PalatinoLinotype-Italic CID TrueType Identity-H yes yes yes 156 0 DNCBPH+PalatinoLinotype-Italic TrueType WinAnsi yes yes no 162 0 DNCBPI+PalatinoLinotype-Bold TrueType WinAnsi yes yes no 165 0 DNCBPJ+PalatinoLinotype-Roman TrueType WinAnsi yes yes no 168 0 GFAWRG+CMSY10 Type 1 Builtin yes yes no 175 0 QDCWHF+EURM10 Type 1 Builtin yes yes no 185 0 Jhove (Rel. 1.22.1, 2019-04-17) Date: 2023-06-23 02:31:59 CEST RepresentationInformation: cancers-14-05531_8_.pdf ReportingModule: PDF-hul, Rel. 1.12.1 (2019-04-17) LastModified: 2023-06-22 16:05:15 CEST Size: 1427463 Format: PDF Version: 1.7 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf PDFMetadata: Objects: 473 FreeObjects: 1 IncrementalUpdates: 0 DocumentCatalog: PageLayout: SinglePage PageMode: UseNone Outlines: Item: Title: Introduction Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@44c8afef Item: Title: From “5q- Syndrome” to MDS-5q Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@7b69c6ba Item: Title: Role of Conventional Cytogenetics in MDS-5q Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@46daef40 Children: Item: Title: Commonly Deleted Regions in Chromosome 5q Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@12f41634 Item: Title: Karyotyping: Present and Future Directions Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@13c27452 Item: Title: Prognostic Impact of Somatic Mutations in MDS-5q Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@262b2c86 Children: Item: Title: SF3B1 Mutation Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@371a67ec Item: Title: DNMT3A, TET2 and ASXL1 Mutations Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@5ed828d Item: Title: TP53 Mutations Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@50d0686 Item: Title: CSNK1A1 Mutations Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@7a3d45bd Item: Title: JAK2 Mutations Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@1e7c7811 Item: Title: Clonal Evolution Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@77ec78b9 Item: Title: Conclusions Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@1a3869f4 Item: Title: References Destination: edu.harvard.hul.ois.jhove.module.pdf.PdfSimpleObject@a38d7a3 Info: Title: Myelodysplastic Syndromes with Isolated del(5q): Value of Molecular Alterations for Diagnostic and Prognostic Assessment Author: Pamela Acha, Mar Mallo and Francesc Solé Subject: Myelodysplastic syndromes (MDS) are a group of clonal hematological neoplasms characterized by ineffective hematopoiesis in one or more bone marrow cell lineages. Consequently, patients present with variable degrees of cytopenia and dysplasia. These characteristics constitute the basis for the World Health Organization (WHO) classification criteria of MDS, among other parameters, for the current prognostic scoring system. Although nearly half of newly diagnosed patients present a cytogenetic alteration, and almost 90% of them harbor at least one somatic mutation, MDS with isolated del(5q) constitutes the only subtype clearly defined by a cytogenetic alteration. The results of several clinical studies and the advances of new technologies have allowed a better understanding of the biological basis of this disease. Therefore, since the first report of the “5q- syndrome” in 1974, changes and refinements have been made in the definition and the characteristics of the patients with MDS and del(5q). Moreover, specific genetic alterations have been found to be associated with the prognosis and response to treatments. The aim of this review is to summarize the current knowledge of the molecular background of MDS with isolated del(5q), focusing on the clinical and prognostic relevance of cytogenetic alterations and somatic mutations. 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