We have studied the occurrence and association of 11q deletions with other chromosomal imbalances in Stage 4 neuroblastomas. To this purpose we have performed comparative genomic hybridization (CGH) analysis on 50 Stage 4 neuroblastomas and these data were analyzed together with those from 33 previously published cases. We observed a high incidence of 11q deletion in Stage 4 neuroblastoma without MYCN amplification (59%) whereas 11q loss was only observed in 15% of neuroblastomas with MYCN-amplification (p = 0.0002) or 11% of cases with 1p deletion detected by CGH (p = 0.0001). In addition, 11q loss showed significant positive correlation with 3p loss (p = 0.0002). Event-free survival was poor and not significantly different for patients with or without 11q deletion. Our study provides further evidence that Stage 4 neuroblastomas with 11q deletions represent a distinct genetic subgroup that typically shows no MYCN-amplification nor 1p deletion. Moreover, it shows that neuroblastomas with 11q deletion also often present 3p deletion. This genetic subgroup shows a similar poor prognosis as MYCN amplified 4 neuroblastomas.
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http://dx.doi.org/10.1002/1097-0215(200002)9999:9999<::aid-ijc1114>3.0.co;2-r | DOI Listing |
Rev Paul Pediatr
January 2025
Universidade Estadual do Oeste do Paraná, Cascavel, PR, Brazil.
Objective: The aim of this study was to report the case of a child with Jacobsen syndrome in order to provide phenotypic information about this rare genetic disorder.
Case Description: A 5-year-old female preschooler was diagnosed with Jacobsen syndrome by karyotype testing. She presented with a variety of craniofacial anomalies and malformations, including cardiac impairment, characterized by a cluster of malformations in the left ventricle in line with the diagnosis of Shone's complex.
Mol Cytogenet
December 2024
Department of Genetics, Charles Nicolle Hospital, Tunis, Tunisia.
Transl Pediatr
October 2024
Department of General Surgery, Children's Hospital of Hebei Province, Shijiazhuang, China.
Background: Segmental chromosome aberrations, defined as presence of aberrations, deletion, or imbalance in the chromosomal arms, have long been considered as a predictor of poor prognosis of patients with neuroblastoma. The objective of this meta-analysis is to quantitively analyze the hazard ratios (HRs) of different whole or segmental chromosome aberrations for overall survival (OS) rate or event-free survival (EFS) rate of patients with neuroblastoma.
Methods: Relevant studies about chromosome, neuroblastoma, predictor, prognosis, and survival published from the inception to April 2023 in the databases of PubMed, Embase, and Web of Science were searched, screened, and reviewed.
Blood Cancer J
November 2024
Division of Computational Biology, Mayo Clinic, Rochester, MN, USA.
Taiwan J Obstet Gynecol
November 2024
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
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