Cytogenetic and Genome Research最新文献

{"title":"Assessing the Genetic Integrity of Embryos Carrying X/Y-Autosome-Balanced Translocations through SNP-Based PGT-SR.","authors":"Yueyun Lan, Jinhui Shu, Sheng He, Jingsi Luo, Jiasun Su, Wei Li, Chaofan Zhou, Xianglian Tang, Yuan Wei, Minpan Huang, Caizhu Wang, Xin Zhao, Zhan Li, Qingming Qiu, Hong Zhou, Peng Huang","doi":"10.1159/000548936","DOIUrl":"10.1159/000548936","url":null,"abstract":"<p><strong>Introduction: </strong>The influence of X/Y-autosomal translocations on reproductive competence is determined by both the cytogenetic positioning of translocation breakpoints and the potential disruption of critical genomic regions essential for reproductive physiology, particularly gene-dense Y-chromosomal segments or X-chromosome loci associated with ovarian folliculogenesis. This investigation examined 4 cases of cytogenetically balanced X/Y-autosomal translocations through the single-nucleotide polymorphism (SNP) and preimplantation genetic testing for structural rearrangements (SNP-based PGT-SR), enabling concurrent assessment of embryonic chromosomal integrity and precise differentiation between euploid embryos and balanced translocation carriers.</p><p><strong>Cases presentation: </strong>Cases 1-2 exhibited Y-autosomal translocations with breakpoints localized to the azoospermia factor critical region, while cases 3-4 demonstrated X-autosomal translocations where breakpoints mapped outside ovarian functional domains (Xq13-q28). Embryo selection utilizing SNP-based PGT-SR achieved clinical transfer of euploid embryos lacking the parental translocation in cases 2 and 4. Case 3, following multidisciplinary counseling, opted for transfer of a balanced translocation carrier euploid embryo with conserved genomic architecture. Prenatal diagnostic evaluations demonstrated complete concordance with PGT-SR outcomes.</p><p><strong>Conclusion: </strong>The impact of chromosomal translocation on reproduction is contingent upon whether the breakpoint location influences critical functional regions. SNP-based PGT-SR can accurately determine the genetic status of embryos exhibiting balanced X/Y-autosomal translocations by systematically evaluating the integrity of the embryo's genetic material. This approach enhances detection accuracy and mitigates the risk of transmitting the translocation to subsequent generations.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"112-124"},"PeriodicalIF":1.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145291620","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Post-Translational Modifications of the Werner Syndrome Protein WRN.","authors":"Amrita Machwe, David K Orren","doi":"10.1159/000547163","DOIUrl":"10.1159/000547163","url":null,"abstract":"<p><strong>Background: </strong>Werner syndrome has been an excellent model for the study of human aging and how chromosomal instability is related to phenotypes of normal aging including cancer. George Martin devoted his life to the study of Werner syndrome and human aging, and this review is dedicated to his memory.</p><p><strong>Summary: </strong>In this review, we highlight the post-translational modifications of WRN, the protein whose function is lacking in individuals with Werner syndrome. WRN is subject to phosphorylation, acetylation, ubiquitination, and SUMOylation.</p><p><strong>Key messages: </strong>These modifications of WRN control its localization and function in the response to replication fork stress and repair of double-strand breaks that are a consequence of this stress.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"255-261"},"PeriodicalIF":2.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144552594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular Mechanisms of Proliferative Senescence and Genomic Instability in Werner Syndrome and the WRN Gene Network.","authors":"Martin Poot","doi":"10.1159/000548500","DOIUrl":"10.1159/000548500","url":null,"abstract":"<p><strong>Background: </strong>Ageing is a general, intrinsic, and progressively deleterious process that affects all cells, tissues, and organs albeit at different extent and rate in each individual. The complexity and universality of its phenotypic manifestations suggest a multifactorial origin. The autosomal recessive disorder Werner syndrome likely represents a segmental progeroid disorder since patients show several, but not all phenotypes of premature ageing.</p><p><strong>Summary: </strong>Proliferative senescence of diploid cells in culture provided a model system in which ageing can be studied experimentally. Cultures of cells from patients with Werner syndrome experienced an extreme form of proliferative senescence and a clonal succession of translocations, known as variegated translocation mosaicism. In addition, Werner syndrome cells showed spontaneous deletion formation and a prolongation of and arrest in the S phase of the cell cycle. The WRN protein harbours a helicase, an exonuclease and a RecQ interaction domain. With the latter, the WRN protein may interact with NBS1, Replication Protein A (RPA), MRE11, TREX1, MUTYH, POT1, TRF1, FEN-1, PAPRP-1, p97/VCP, TRF2, DNA polymerase(beta), Ku76/80, EXO-1, NEIL1, and p53, which are key to DNA damage response pathways including canonical NHEJ, homologous recombination, base excision repair, and telomere maintenance. The WRN exonuclease domain is a target of WRNIP1 binding, which links WRN to resolution of stalled replication due to collision with transcription and the ATM-mediated cell cycle checkpoint. Patients with an incomplete complement of Werner syndrome phenotypes, called atypical Werner syndrome patients, were found to carry variants in LMNA, POLD1, SPRTN, MDM2, CTC1, SAMHD1.</p><p><strong>Key messages: </strong>These findings broaden the genotypic landscape and the phenotypic spectrum of Werner syndrome. In this review potential molecular mechanisms underlying genomic instability in Werner syndrome, including chromothripsis due to asynchronous S phase traverse and telomere crises followed by bridge fusion breakage cycles are discussed. The participation of WRN in multiple gene networks is consistent with the multifactorial nature of ageing in general.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"277-296"},"PeriodicalIF":2.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145091363","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Karyoevolutionary Processes in Atlantic Damselfishes of the Genus <italic>Stegastes</italic> (Pomacentridae).","authors":"Marsílio S P Rocha, Gideão W W F Costa, Marcelo B Cioffi, Luiz A C Bertollo, Vanessa C S Oliveira, Karlla D J Amorim, Wagner F Molina","doi":"10.1159/000548331","DOIUrl":"10.1159/000548331","url":null,"abstract":"<p><strong>Background: </strong>The damselfishes, an extremely diverse group of herbivorous fish, stands out as an important and ubiquitous ecological component of coral reefs. In the Western South Atlantic, the genus Stegastes is the most representative, whose evolutionary paths and taxonomic status of insular endemic species have been better evaluated. To clarify the karyotypic evolution involved in the diversification of this group, cytogenetic analyses were performed in four nominal species (Stegastes variabilis and Stegastes fuscus, distributed in Brazilian coastal regions; Stegastes rocasensis and Stegastes sanctipauli, from Rocas Atoll and São Paulo and São Pedro Archipelago) and one subspecies (S. fuscus trindadensis, from Trindade and Martim Vaz Archipelago).</p><p><strong>Results: </strong>Classical cytogenetic protocols and fluorescence in situ hybridization (FISH) with 18S and 5S rDNA probes were used for comparative analyses. All species had 2n = 48 chromosomes, with high FN values ranging from 88 to 92. Stegastes rocasensis and S. sanctipauli shared identical cytogenetic patterns, while S. f. trindadensis revealed a syntenic arrangement of 18S and 5S rDNA sites not found in S. fuscus from the Brazilian coast.</p><p><strong>Conclusion: </strong>The karyotypic evolution of Stegastes was predominantly driven by multiple pericentric inversions (and/or centromere shifts), resulting in changes in the internal organization of chromosomes. S. rocasensis and S. sanctipauli have similar cytogenetical patterns, as well as S. fuscus and S. f. trindadensis indicating incipient evolutionary differentiation in insular species. Mapping other repetitive DNA sequences provided an exceptional opportunity to clarify chromosomal changes and their association with the evolutionary diversification of Stegastes species.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"20-29"},"PeriodicalIF":1.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145005926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deciphering the Structural Variants by Long-Read Genome Sequencing: Technology, Applications, and Case Illustrations.","authors":"Usha R Dutta, Ashwin Dalal","doi":"10.1159/000549245","DOIUrl":"10.1159/000549245","url":null,"abstract":"<p><strong>Background: </strong>Structural variants (SVs) are defined as genomic variants affecting more than 50 base pairs. They include deletions, insertions, inversions, translocations, tandem repeats, and copy number variations. These SVs contribute significantly to genetic complexity and are involved in human evolution, genetic disorders, and cancer. Over 50% of the SVs cannot be detected due to limitations in methods and technologies. The short-read sequencing technologies (SRSs) are limited in detecting single-nucleotide variants and have limited usage for analysis of complex genomic loci, repeat regions, and phasing.</p><p><strong>Summary: </strong>The advent of long-read sequencing (LRS) technologies, such as Oxford Nanopore and PacBio, has revolutionized SV detection. These platforms enable the accurate characterization of diverse variant types, ranging from simple deletions to complex chromothripsis events, and support de novo assembly, haplotype phasing, and the resolution of repetitive or structurally complex genomic regions. One major outcome is the completion of the telomere-to-telomere human reference genome. This review summarizes recent advances in LRS for SV detection, including sequencing platforms, bioinformatic tools, data analysis, and validation strategies. The clinical applications, particularly in the diagnosis of rare diseases, are illustrated with two cases that were successfully resolved using both LRS approaches.</p><p><strong>Key message: </strong>LRS can overcome the limitations of SRS in SV detection, providing more accurate insights into genome disorders. It enables the detection of repeat and difficult-to-resolve regions of the genome and facilitates clinical diagnoses to base-level breakpoint detection. Despite challenges such as high cost, data interpretation, and clinical linking, continued advancements are elevating LRS as an invaluable tool in precision genomic medicine.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"96-111"},"PeriodicalIF":1.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145408494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transposable Elements and Sex Chromosome Evolution in <italic>Eulimnadia texana</italic>.","authors":"Chathumadavi Ediriweera, Stephen C Weeks","doi":"10.1159/000548721","DOIUrl":"10.1159/000548721","url":null,"abstract":"<p><strong>Introduction: </strong>Sex chromosomes often evolve through suppressed recombination and accumulation of transposable elements (TEs) on the sex-limited chromosome, leading to divergence and eventual degeneration. The clam shrimp Eulimnadia texana possesses proto-sex chromosomes (Z and W) at an early evolutionary stage, providing a unique opportunity to examine the initial genomic changes underlying sex chromosome differentiation. Additionally, both sex chromosomes are expressed in homogametic ZZ and WW shrimp, allowing a regular expression of both sex chromosomes in homozygotes.</p><p><strong>Methods: </strong>We analyzed newly assembled ZZ (male) and previously published WW (hermaphrodite) genomes of E. texana. Sex-linked markers were mapped to identify the Z chromosome. TEs were annotated using a species-specific repeat library and RepeatMasker. The Z and W chromosomes were divided into bins and randomization tests compared TE accumulation between the sex chromosomes as well as between corresponding regions within these two chromosomes; the latter was focused on the putative sex-determining regions of both the Z and W. Kimura distance-based analyses were used to estimate TE age divergence.</p><p><strong>Results: </strong>The Z chromosome showed no significant TE enrichment relative to autosomes but was enriched for DNA transposons. The W chromosome exhibited significantly higher retrotransposon (LTR and LINE) accumulation. Only the sex-determining region of the W showed significantly elevated retrotransposon content compared to the Z. TE age landscapes indicated recent bursts of retrotransposon activity on the W.</p><p><strong>Conclusion: </strong>These findings support theoretical predictions that retrotransposons accumulate in non-recombining regions, while DNA transposons are associated with recombining chromosomes. The W chromosome of E. texana shows early signs of differentiation, with localized retrotransposon buildup, while the Z remains autosome-like. This study highlights E. texana as a valuable model for understanding the genomic mechanisms of early sex chromosome evolution.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"30-45"},"PeriodicalIF":1.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145191317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic and Epigenetic Insights into Werner Syndrome.","authors":"Elena Paccosi, Diletta Guzzon, Luca Proietti-De-Santis","doi":"10.1159/000544118","DOIUrl":"10.1159/000544118","url":null,"abstract":"<p><strong>Background: </strong>Werner syndrome is an autosomal recessive disorder characterized by premature aging and cancer predisposition, caused by loss of function mutations in WRN gene. To date, more than 70 different pathogenic variants have been identified across the WRN locus, with an increasing number of newly reported mutations. Even if the clinical phenotypes of WS seem to be indistinguishable among the different WRN mutation types, a certain genotype/phenotype correlation has been identified, especially regarding the predisposition to certain type of malignant disease. Along this line, the knowledge of the genetic aspects related to WRN is a fascinating land still object of intensive studies. Summary and Key Messages: In this review, we discuss both the genetic and epigenetic regulations of the WRN gene, with a special focus on the pathogenic variants that have been identified in the WRN locus across different populations. Indeed, we think that investigating these aspects is the basis starting from which is it possible to depict WRN role in aging and cancer development processes, with the final goal of opening new perspectives for future therapeutic strategies directed to the treatment not only of this syndrome, for which, to date, there is no cure, but also of many types of malignant diseases and all those disturbs related to the physiological aging.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"262-276"},"PeriodicalIF":2.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432322","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Erratum.","authors":"","doi":"10.1159/000549238","DOIUrl":"10.1159/000549238","url":null,"abstract":"&lt;p&gt;&lt;p&gt;In ISCN 2024: An International System for Human Cytogenomic Nomenclature [Cytogenet Genome Res 2024;164(suppl 1); https://doi.org/10.1159/000538512 and https://doi.org/10.1159/isbn.978-3-318-07331-7] by Hastings RJ, Moore S, Chia N (editors), the following corrections to the ISCN should be noted. Please contact the ISCN Standing Committee via the forum if you identify any additional errata.In Chapter 4, Section 4.2.1 Chromosome Abnormality Description Rules, Rule f, the lineNeoplasia: 46,XX,t(9;22)(q34;q11.2)[10]/47,XX,t(9;22),+der(22)[10]Should correctly read:Neoplasia: 46,XX,t(9;22)(q34;q11.2)[10]/47,XX,t(9;22),+der(22)t(9;22)[10]In Chapter 4, Section 4.5.3k Nomenclature for Clones, Mosaics and Chimeras, the linesRelated neoplastic clones: 46,XX,del(7)(q22),+8[10]/46,XX,i(7)(q10),+8[12]Should correctly read:Related neoplastic clones: 47,XX,del(7)(q22),+8[10]/47,XX,i(7)(q10),+8[12]Related neoplastic clones: 46,XY,del(5)(q13q31),-7[3]/46,XY,del(5)(q13),-7[17]Should correctly read:Related neoplastic clones: 45,XY,del(5)(q13q31),-7[3]/45,XY,del(5)(q13),-7[17]In Chapter 5, Section 5.5.3 Derivative Chromosomes, Rule c, example iv, the lineThe additional derivative chromosome 4 is listed before the translocation following the chromosome order rule (see Section 4.3)Should correctly read:The additional derivative chromosome 4 is listed before the translocation following the alphabetical order rule (see Section 4.3)In Chapter 5, Section 5.4.1 Specification of Chromosomes and Breakpoints, Rule eAlternatively, uncertainty of breakpoints may be indicated by a question mark (?), e.g., 1p1? (see Section 4.2.1) or by a tilde (∼), e.g., 1p34∼p35 (see Section 4.2.1)Should correctly read:Alternatively, uncertainty of breakpoints may be indicated by a question mark (?), e.g., 1p1? (see Section 4.2.1) or by a tilde (∼), e.g., 1p35∼p34 (see Section 4.2.1)In Chapter 5, Section 5.4.1 Specification of Chromosomes and Breakpoints, Rule hIf the rearrangement involves a single chromosome the breakpoints are not separated by a semicolon (;), e.g., inv(2)(p23q11.2), del(4)(p15.3p16.1), r(18)(p11.2q23)Should correctly read:If the rearrangement involves a single chromosome the breakpoints are not separated by a semicolon (;), e.g., inv(2)(p23q11.2), del(4)(p16.1p15.3), r(18)(p11.2q23)In Chapter 5, Section 5.4.2 Karyotype format for Designing Structural Chromosome Abnormalities, Rule b, example i, the textThe abnormal chromosome 11 has resulted from a complex translocation involving chromosomes 5, 8 and 11, t(5;8;11;5)(q23;q24.1;q12;q11.2)Should correctly read:The abnormal chromosome 11 has resulted from a complex translocation involving chromosomes 5, 8 and 11, der(11)t(5;11)(q11.2;q12)t(5;8)(q23;q24.1)In Chapter 5, Section 5.5.9.2 Insertion between Two Chromosomes, Rule a, the linea. Interchromosomal insertions (ins) are three-break rearrangements in which part of one chromosome is inserted at a point of breakage in the same or another chromosomeShould correctly read:a","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"64-66"},"PeriodicalIF":1.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145741493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular Characterization of <italic>MECOM</italic> Rearrangements in Two Cases with Myelodysplastic Syndrome and t(2;3)(p23;q26.2).","authors":"Zhongxia Qi, Sonam Prakash, Jingwei Yu","doi":"10.1159/000550151","DOIUrl":"10.1159/000550151","url":null,"abstract":"<p><strong>Introduction: </strong>MECOM rearrangements are frequently observed in myeloid neoplasms and associated with poor prognosis. Among the genomic alterations leading to MECOM rearrangements, t(2;3)(p13∼p25;q26.2) accounts for approximately 13% of reported cases. However, the precise DNA breakpoints of this translocation have not been previously reported, nor has the mechanism by which it alters MECOM expression been fully elucidated. In this report, we describe two cases with myelodysplastic syndromes (MDS) and t(2;3)(p23;q26.2). Our genomic characterization of these two t(2;3) translocations provided insights into the molecular mechanism of MECOM activation.</p><p><strong>Case presentation: </strong>Case 1 is a 44-year-old female who presented with new anemia and thrombocytopenia. She was treated with azacitidine. After two allogeneic stem cell transplants, her disease relapsed with rapid progression to acute myeloid leukemia (AML). The patient passed away 1 year after progression to AML and 8 years after initial diagnosis. Case 2 is a 75-year-old female who was incidentally found to have macrocytic anemia with rare circulating blasts. She remained asymptomatic from anemia and did not require transfusions or treatment. Her disease progressed to MDS with excess blasts 3 years later. Patient was treated with azacitidine. Fifteen months later, her disease further progressed to AML. She passed away 5 months later and four and a half years after initial diagnosis. DNA sequencing analysis of these two cases revealed that the t(2;3)(p23;q26.2) breakpoints were within the regulatory regions of ZFP36L2 and THADA on chromosome 2 and the proximity of MECOM on chromosome 3, creating a novel regulatory configuration for MECOM. Notably, the translocation breakpoints differed by 270 kb on chromosome 2 and 93 kb on chromosome 3, resulting in distinct translocated regulatory elements with varying sizes and proximities to MECOM. These structural differences may influence the level of MECOM upregulation and contribute to variation in disease severity and progression.</p><p><strong>Conclusion: </strong>Our findings highlighted that, despite cytogenetic similarity, different t(2;3) translocations may exert distinct regulatory effects depending on the precise breakpoint locations. Thus, molecular characterization of MECOM rearrangements is critical for understanding disease pathogenesis and prognosis in myeloid neoplasms and may lead to the development of novel treatment.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"188-194"},"PeriodicalIF":1.3,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145793450","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A 30-Year Cytogenetic Follow-Up Study on a Thyroid Cancer Patient after Internal Radioiodine Therapy.","authors":"Adayabalam S Balajee, Terri L Ryan, Maria B Escalona, Alvis E Foster","doi":"10.1159/000550010","DOIUrl":"10.1159/000550010","url":null,"abstract":"<p><strong>Introduction: </strong>Radioiodine (131I) is commonly used for the treatment of hyperthyroidism and for differentiated thyroid cancer as an ablative therapy. Radioiodine (131I) constitutes almost 90% of the therapies that are currently performed in the nuclear medicine field. In this study, retrospective cytogenetic follow-up analysis was performed after 29 years (2023) and 30 years (2024) in a papillary thyroid cancer patient who received the second round of 131I treatment in 1994.</p><p><strong>Methods: </strong>Metaphase chromosomes prepared from the in vitro culture of peripheral blood lymphocytes of the patient were utilized for the analysis of unstable (dicentrics and fragments) and stable chromosome aberrations (simple, complex, and clonal). For dicentric chromosome detection, fluorescence in situ hybridization (FISH) was performed using human centromere- and telomere-specific peptide nucleic acid probes. Chromosome translocations were detected by a cocktail of DNA probes for individual chromosomes (1, 2, and 4) and multicolor FISH (mFISH) probe for the entire human genome. Micronuclei were analyzed by cytokinesis block micronucleus assay (CBMN). Absorbed radiation dose was estimated at 95% confidence intervals from the frequencies of chromosome aberrations (dicentric chromosomes and translocations) using correlation coefficients of the γ-rays dose-response curve using the DoseEstimate_v5.1 algorithm.</p><p><strong>Results: </strong>The percentage of cells with stable and unstable chromosome aberrations remained the same (∼8%) in the patient during the entire retrospective study albeit variations in the frequencies of reciprocal and nonreciprocal translocations. The frequency of color junctions (chromosome exchange events) detected by the mFISH technique showed a sharp increase in this study (0.33/cell) compared to our earlier study (0.19/cell). The persistence of clonal translocation involving chromosomes 14;15 was observed in 1-1.6% of the total cells analyzed. In the 29-year follow-up study, one complex translocation involving chromosomes 1, 9, and 14 was detected by mFISH in a total of 200 cells.</p><p><strong>Discussion: </strong>Our findings indicate that the past internal therapeutic exposure of radioiodine results in long-lasting chromosomal damage and the retrospective study of this nature will be useful for monitoring the progression of any oncogenic events driven by chromosomal instability in the hematopoietic system of 131I therapy patients.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"195-206"},"PeriodicalIF":2.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145741529","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}