{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:46:24Z","timestamp":1760150784097,"version":"build-2065373602"},"reference-count":27,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,12,29]],"date-time":"2023-12-29T00:00:00Z","timestamp":1703808000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"A.B.C., Associazione Bambini Cri du Chat"},{"name":"Italian Ministry of Health, \u201cRicerca Corrente 2020\u201d"},{"name":"\u201cRicerca Corrente 2021\u201d (IRCCS G. Gaslini, Genova)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diseases"],"abstract":"<jats:p>Background: In Cri du Chat (CdC), cancer as comorbidity is extremely rare. In databases from Denmark, Spain, Australia, New Zealand, and Japan, no cancer was reported; in Italy and Germany, four cancers were identified out of 321 CdCs. Methods: In a 29-year-old CdC patient, clinical investigations following hematemesis led to the diagnosis of esophageal adenocarcinoma (EAC). A high pain threshold was also observed. Conventional and molecular cytogenetic defined the size of the deletion, and exome analysis on the trio completed the molecular work. Results: Cytogenetic analysis showed a de novo chromosomal alteration: 46,XY,ishdel(5)(p14.3)(D5S28-) and arr[GRCh37] 5p15.33p14.3(1498180_19955760)x1. A quantitative sensory test demonstrated a high heat threshold. A 18f-fluorodeoxyglucose PET\/TC scan of the brain failed to detect reduction of metabolism in the somatosensory area or insular cortex. Exome analysis in the trio (patient and parents) failed to identify variants to be interpreted as a likely risk factor for EAC. Conclusion: We conclude that the presence of well-known risk factors (maleness, obesity, gastroesophageal reflux, and Barrett\u2019s metaplasia) in a patient with very limited capability of expressing discomfort or referring clinical symptoms have been the main risk factors for developing EAC. At present, based on the available data, there is no evidence of any increased risk of developing cancer in CdC patients.<\/jats:p>","DOI":"10.3390\/diseases12010009","type":"journal-article","created":{"date-parts":[[2023,12,29]],"date-time":"2023-12-29T06:56:57Z","timestamp":1703833017000},"page":"9","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Esophageal Cancer with Early Onset in a Patient with Cri du Chat Syndrome"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8400-5671","authenticated-orcid":false,"given":"Cesare","family":"Danesino","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy"},{"name":"Scientific Committee of A.B.C. Associazione Bambini Cri du Chat, 50026 Firenze, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica","family":"Gualtierotti","sequence":"additional","affiliation":[{"name":"UOC Chirurgia Generale Oncologica e Mininvasiva, Ospedale Niguarda, 20162 Milano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo","family":"Origi","sequence":"additional","affiliation":[{"name":"UOC Chirurgia Generale Oncologica e Mininvasiva, Ospedale Niguarda, 20162 Milano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8024-8425","authenticated-orcid":false,"given":"Angelina","family":"Cistaro","sequence":"additional","affiliation":[{"name":"Scientific Committee of A.B.C. Associazione Bambini Cri du Chat, 50026 Firenze, Italy"},{"name":"Nuclear Medicine Unit, Salus Alliance Medical, 16129 Genova, Italy"},{"name":"Pediatric Study Group Italian Associaton of Nuclear Medicine (AIMN), 20159 Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michela","family":"Malacarne","sequence":"additional","affiliation":[{"name":"UOC Laboratorio di Genetica Umana, IRCCS G. Gaslini, 16147 Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5246-5585","authenticated-orcid":false,"given":"Matteo","family":"Massidda","sequence":"additional","affiliation":[{"name":"UOC Laboratorio di Genetica Umana, IRCCS G. Gaslini, 16147 Genova, Italy"},{"name":"Department of Medical, Surgery and Experimental Sciences, University of Sassari, 07100 Sassari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katia","family":"Bencardino","sequence":"additional","affiliation":[{"name":"Niguarda Cancer Center, Grande Ospedale Metropolitano Niguarda, 20162 Milano, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8440-865X","authenticated-orcid":false,"given":"Domenico","family":"Coviello","sequence":"additional","affiliation":[{"name":"UOC Laboratorio di Genetica Umana, IRCCS G. Gaslini, 16147 Genova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Albani","sequence":"additional","affiliation":[{"name":"Department of Neurology and Neurorehabilitation for Severe Brain Injures Acquired Ospedale Moriggia Pelascini, 22015 Gravedona, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene Giovanna","family":"Schiera","sequence":"additional","affiliation":[{"name":"Independent Researcher, 90121 Palermo, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-6894-5209","authenticated-orcid":false,"given":"Alexandra","family":"Liava","sequence":"additional","affiliation":[{"name":"UOC Neuropsichiatria Infantile, 22100 Como, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Guala","sequence":"additional","affiliation":[{"name":"Scientific Committee of A.B.C. Associazione Bambini Cri du Chat, 50026 Firenze, Italy"},{"name":"UOC Pediatria, Ospedale Castelli, 28921 Verbania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,12,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/1750-1172-1-33","article-title":"Cri du Chat syndrome","volume":"1","year":"2006","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2485","DOI":"10.1038\/s41436-019-0519-9","article-title":"Comorbidity landscape of the Danish patient population affected by chromosome abnormalities","volume":"21","author":"Russo","year":"2019","journal-title":"Genet. 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