Review
Oncology
Pamela Acha, Mar Mallo, Francesc Sole
Summary: Myelodysplastic syndromes with isolated del(5q) are a subtype of MDS defined by cytogenetic alteration. This review summarizes 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.
Article
Medicine, General & Internal
Sherif Elkattawy, Sarah Ayad, Iman El-Feki, Xutong Guo, Edmund Appiah-Kubi, Afrah Talpur, William Kessler
Summary: Myelodysplastic syndromes are a diverse group of hematopoietic stem cell malignancies characterized by abnormal differentiation of bone marrow cell lines, with a large part of the phenotypic variability attributed to a wide set of genetic defects. Among these, 5q syndrome, identified by an isolated deletion of the long arm of chromosome 5, is the only subset to be diagnosed by genetic defects. Diagnosis usually involves bone marrow biopsy and FISH panel testing, with common clinical features including anemia, thrombocytopenia, and dysplastic bone marrow.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2021)
Article
Biochemistry & Molecular Biology
Romain Nicolle, Karine Siquier-Pernet, Marlene Rio, Anne Guimier, Emmanuelle Ollivier, Patrick Nitschke, Christine Bole-Feysot, Serge Romana, Alex Hastie, Vincent Cantagrel, Valerie Malan
Summary: This study reports two cases of de novo 16p13.11p11.2 triplication associated with a 16p11.2 duplication, detected by chromosomal microarray analysis (CMA). Optical genome mapping (OGM) was used to unravel the mechanisms of these complex chromosomal rearrangements.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Hematology
Anna Hecht, Julia A. Meyer, Johann-Christoph Jann, Katja Sockel, Aristoteles Giagounidis, Katharina S. Goetze, Anne Letsch, Detlef Haase, Richard F. Schlenk, Torsten Haferlach, Philippe Schafhausen, Gesine Bug, Michael Luebbert, Felicitas Thol, Guntram Buesche, Esther Schuler, Verena Nowak, Julia Oblaender, Stephanie Fey, Nadine Mueller, Georgia Metzgeroth, Wolf-Karsten Hofmann, Ulrich Germing, Florian Nolte, Mark Reinwald, Daniel Nowak
Summary: This study aimed to investigate whether global DNA methylation patterns could predict response to lenalidomide in patients with myelodysplastic syndrome (MDS) with isolated deletion of chromosome 5q (MDS del5q). Results showed no significant effect of lenalidomide on DNA methylation status, and methylation patterns before treatment were not predictive of lenalidomide response. Some patients with hypermethylation of DNA sequences showed a trend towards inferior overall survival, suggesting the need to evaluate novel therapeutic targets.
ANNALS OF HEMATOLOGY
(2021)
Article
Hematology
Guntram Buesche, Huesniye Teoman, Rebekka K. Schneider, Flavia Ribezzo, Benjamin L. Ebert, Aristoteles Giagounidis, Gudrun Goehring, Brigitte Schlegelberger, Oliver Bock, Arnold Ganser, Carlo Aul, Ulrich Germing, Hans Kreipe
Summary: RBC-TD anemia associated with RPS14 haploinsufficiency is a complication of MDS.del(5q), characterized by the loss of erythroblastic islands (Ery-Is) due to alterations in marrow macrophages. This loss plays a significant role in the progression of anemia.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Article
Hematology
Allison Barz Leahy, Kaitlin J. Devine, Yimei Li, Hongyan Liu, Regina Myers, Amanda DiNofia, Lisa Wray, Susan R. Rheingold, Colleen Callahan, Diane Baniewicz, Maria Patino, Haley Newman, Stephen P. Hunger, Stephan A. Grupp, David M. Barrett, Shannon L. Maude
Summary: Chimeric antigen receptor (CAR) T-cell therapy is effective in treating relapsed/refractory B-acute lymphoblastic leukemia (ALL), regardless of different cytogenetic characteristics. High-risk patients, including those with KMT2A-rearranged infant ALL, showed high probabilities of relapse-free survival and overall survival at 2 years.
Article
Genetics & Heredity
Francesco Ravasini, Eugenia D'Atanasio, Maria Bonito, Biancamaria Bonucci, Chiara Della Rocca, Andrea Berti, Beniamino Trombetta, Fulvio Cruciani
Summary: Chromosome rearrangements involving the AZFc region of the Y chromosome are a major cause of male infertility, and are also relevant in forensic genetics. A study identified an unusual Y-STR pattern in samples, potentially resulting from a large genomic rearrangement event.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Ahmed Maseh Haidary, Zeeshan Ansar Ahmed, Jamshid Abdul-Ghafar, Soma Rahmani, Sarah Noor, Farahnaz Erfani, Maryam Ahmad, Naeem Lakanwall, Haider Ali Malakzai, Abdul Sami Ibrahimkhil, Esmatullah Esmat, Mujtaba Haidari, Nimattullah Yousufzai, Samuel Sharif, Abdul Hadi Saqib
Summary: 5q deletions are rare in CML, with reported cases either linked to tyrosine kinase inhibitor therapy or post allogeneic stem cell transplantation. This case represents the first reported instance of Ph positive CML accompanied by a 5q deletion.
MOLECULAR CYTOGENETICS
(2021)
Article
Hematology
Shuji Uno, Yoko Motegi, Kenichi Minehata, Yasuo Aoki
Summary: Lenalidomide was approved in Japan for the treatment of patients with del 5q-MDS. A post-marketing surveillance study found that 78.0% of patients experienced adverse drug reactions (ADRs), with thrombocytopenia or platelet count decreased being the most common ADR. 11.0% of patients had confirmed acute myeloid leukemia (AML) progression during the study.
INTERNATIONAL JOURNAL OF HEMATOLOGY
(2023)
Article
Medicine, General & Internal
Haruna Furukawa, Jun Nomura, Masahiro Kobayashi, Shori Abe, Tomoki Takeda, Yumiko Oka, Yuko Shirota, Takao Kodera, Yoko Okitsu, Shinichiro Takahashi, Keigo Murakami, Junichi Kameoka
Summary: A 78-year-old man with myelodysplastic syndromes was treated with lenalidomide, but developed immune thrombocytopenic purpura resistant to platelet transfusions, resulting in severe thrombocytopenia and death from gastrointestinal hemorrhage.
TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE
(2023)
Review
Medicine, General & Internal
Christian Matthias Wilk, Jeroen Simon Goede
Summary: Deletion of the long arm of chromosome 5 (del(5q)) is a common anomaly in myelodysplastic syndromes, which has specific pathophysiology and treatment options. MDS patients with isolated del(5q) have a low risk profile and can be treated with lenalidomide. It is important to differentiate isolated del(5q) from MDS with an anomaly on the long arm of chromosome 5 and additional mutations, which are classified as high-risk forms of MDS.
THERAPEUTISCHE UMSCHAU
(2022)
Article
Genetics & Heredity
Yong Wu, Chuanning Liao, Yamei Xie, Lingxi Wang
Summary: This case report describes a prenatal diagnostic case of complex chromosomal rearrangements involving 6 chromosomes. Chromosomal microarray analysis identified a 14.90 Mb deletion on 2q14.3-q22.1, which contains haploinsufficient genes associated with neurodevelopmental and autism spectrum disorders.
MOLECULAR SYNDROMOLOGY
(2023)
Article
Genetics & Heredity
Eleanor Sams, Jeffrey K. Ng, Victoria Tate, Ying-Chen Claire Hou, Yang Cao, Lucinda Antonacci-Fulton, Khadija Belhassan, Julie Neidich, Robi D. Mitra, F. Sessions Cole, Patricia Dickson, Jeffrey Milbrandt, Tychele N. Turner
Summary: Despite previous studies on 9p deletion and duplication syndromes, the comprehensive understanding of the genotypic and phenotypic characteristics has been limited due to small sample sizes and lack of high-resolution data. In this study, genetic data from 719 individuals worldwide were examined, revealing that most breakpoints occur in bands 9p22 and 9p24. The most common phenotype is developmental delay, and multiple neurodevelopmental disorder genes were identified in 9p22 and 9p24. Secondary structural variants related to 9p were also found, with a gender bias towards females.
HUMAN GENETICS AND GENOMICS ADVANCES
(2022)
Article
Oncology
Sandhya Kandoor, Ushang Kate, Prabal Deb, Sangita S. Mehta, B. Vignesh Kanda Kumar, Anurita P. Pais
Summary: cMYC alterations play an important role in lymphomagenesis, and accurate identification has significant implications for diagnosis, prognosis, and treatment. Rare concomitant alterations in cMYC and IGH genes were identified, and short-term follow-up post R-CHOP therapy showed favorable results.
INDIAN JOURNAL OF CANCER
(2022)
