{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T01:01:46Z","timestamp":1777942906044,"version":"3.51.4"},"reference-count":30,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T00:00:00Z","timestamp":1774569600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T00:00:00Z","timestamp":1774569600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp;amp; Cancer"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      The aim of this study was to characterize the spectrum of germline cytogenomic alterations in\n                      <jats:italic>RB1<\/jats:italic>\n                      in Mexican patients with retinoblastoma.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Procedures<\/jats:title>\n                    <jats:p>\n                      Genomic DNA was isolated from peripheral blood from 88 Mexican patients with retinoblastoma RB (56 unilateral and 32 bilateral) treated at the Civil Hospital of Guadalajara between 2014 and 2024. Single nucleotide variants (SNVs) were analyzed by next generation sequencing (NGS) using a custom\n                      <jats:italic>RB1<\/jats:italic>\n                      panel. Large\n                      <jats:italic>RB1<\/jats:italic>\n                      deletions were assessed by multiplex ligation\u2010dependent probe amplification (MLPA), whereas fluorescence in situ hybridization (FISH) and G\u2010banding karyotyping were applied following a hierarchical workflow based on institutional resources to identify deletions at 13q14.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Germline cytogenomic alterations were identified in 37 of the 88 patients (42.1%). Among these, 30 had bilateral RB and 7 had unilateral RB. Detection rates were 93.7% (30\/32) in bilateral cases and 12.5% (7\/56) in unilateral cases. Of the total cytogenomic alterations, 72.9% (27\/37) were SNVs and 27.1% (10\/37) were large deletions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This study provides an overview of the spectrum of germline cytogenetic alterations and clinical features in Mexican patients with RB. Our results expand the understanding of RB in this population and underscore the need for multimodal approaches for the detection and functional characterization of\n                      <jats:italic>RB1<\/jats:italic>\n                      alterations. This study reports the largest Mexican retinoblastoma cohort with comprehensive germline\n                      <jats:italic>RB1<\/jats:italic>\n                      characterization and high detection rates, particularly in bilateral disease.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/1545-5017.70267","type":"journal-article","created":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T07:38:47Z","timestamp":1774597127000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Spectrum of Germline Cytogenomic Alterations in\n                    <i>RB1<\/i>\n                    in Mexican Patients With Retinoblastoma"],"prefix":"10.1002","volume":"73","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1277-2687","authenticated-orcid":false,"given":"Jose de Jesus","family":"Perez\u2010Becerra","sequence":"first","affiliation":[{"name":"Human Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de La Salud Universidad De Guadalajara  Guadalajara Mexico"},{"name":"Human Genetics Institute \u201cDr. Enrique Corona Rivera\u201d Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de La Salud Universidad De Guadalajara  Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sinhue Alejandro","family":"Brukman\u2010Jimenez","sequence":"additional","affiliation":[{"name":"Human Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de La Salud Universidad De Guadalajara  Guadalajara Mexico"},{"name":"Human Genetics Institute \u201cDr. Enrique Corona Rivera\u201d Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de La Salud Universidad De Guadalajara  Guadalajara Mexico"},{"name":"Cytogenetics Unit Hospital Civil de Guadalajara Dr. Juan I. Menchaca  Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Antonio","family":"Ramirez\u2010Corona","sequence":"additional","affiliation":[{"name":"Human Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de La Salud Universidad De Guadalajara  Guadalajara Mexico"},{"name":"Human Genetics Institute \u201cDr. Enrique Corona Rivera\u201d Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de La Salud Universidad De Guadalajara  Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfredo","family":"Corona\u2010Rivera","sequence":"additional","affiliation":[{"name":"Human Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de La Salud Universidad De Guadalajara  Guadalajara Mexico"},{"name":"Human Genetics Institute \u201cDr. Enrique Corona Rivera\u201d Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de La Salud Universidad De Guadalajara  Guadalajara Mexico"},{"name":"Cytogenetics Unit Hospital Civil de Guadalajara Dr. Juan I. Menchaca  Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge Rom\u00e1n","family":"Corona\u2010Rivera","sequence":"additional","affiliation":[{"name":"Human Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de La Salud Universidad De Guadalajara  Guadalajara Mexico"},{"name":"Human Genetics Institute \u201cDr. Enrique Corona Rivera\u201d Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de La Salud Universidad De Guadalajara  Guadalajara Mexico"},{"name":"Cytogenetics Unit Hospital Civil de Guadalajara Dr. Juan I. Menchaca  Guadalajara Mexico"},{"name":"Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division Dr. Juan I. Menchaca Civil Hospital of Guadalajara  Guadalajara Jalisco Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katia Alejandra","family":"Castillo\u2010Reyes","sequence":"additional","affiliation":[{"name":"Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division Dr. Juan I. Menchaca Civil Hospital of Guadalajara  Guadalajara Jalisco Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graciela","family":"Gonzalez\u2010Perez","sequence":"additional","affiliation":[{"name":"Ophthalmology Department Hospital Civil de Guadalajara Fray Antonio Alcalde  Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aurea","family":"M\u00e1rquez\u2010Mora","sequence":"additional","affiliation":[{"name":"Cytogenetics Unit Hospital Civil de Guadalajara Dr. Juan I. Menchaca  Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graciela","family":"Serafin\u2010Saucedo","sequence":"additional","affiliation":[{"name":"Cytogenetics Unit Hospital Civil de Guadalajara Dr. Juan I. Menchaca  Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Violeta Cassandra","family":"Vera\u2010Cuevas","sequence":"additional","affiliation":[{"name":"Innovation and Development Abalat  Ciudad de M\u00e9xico Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uriel Francisco","family":"Santana\u2010Bejarano","sequence":"additional","affiliation":[{"name":"Human Genetics PhD Program, Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de La Salud Universidad De Guadalajara  Guadalajara Mexico"},{"name":"Human Genetics Institute \u201cDr. Enrique Corona Rivera\u201d Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de La Salud Universidad De Guadalajara  Guadalajara Mexico"},{"name":"Cytogenetics Unit Hospital Civil de Guadalajara Dr. Juan I. 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