Gene amplification in neoplasia : A cytogenetic survey of 80 131 cases
Mandahl, Nils LU ; Mertens, Fredrik LU and Mitelman, Felix LU
(2024)
In Genes Chromosomes and Cancer
63(1).
- Abstract
Gene amplification is a crucial process in cancer development, leading to the overexpression of oncogenes. It manifests cytogenetically as extrachromosomal double minutes (dmin), homogeneously staining regions (hsr), or ring chromosomes (r). This study investigates the prevalence and distribution of these amplification markers in a survey of 80 131 neoplasms spanning hematologic disorders, and benign and malignant solid tumors. The study reveals distinct variations in the frequency of dmin, hsr, and r among different tumor types. Rings were the most common (3.4%) sign of amplification, followed by dmin (1.3%), and hsr (0.8%). Rings were particularly frequent in malignant mesenchymal tumors, especially liposarcomas (47.5%) and... (More)
Gene amplification is a crucial process in cancer development, leading to the overexpression of oncogenes. It manifests cytogenetically as extrachromosomal double minutes (dmin), homogeneously staining regions (hsr), or ring chromosomes (r). This study investigates the prevalence and distribution of these amplification markers in a survey of 80 131 neoplasms spanning hematologic disorders, and benign and malignant solid tumors. The study reveals distinct variations in the frequency of dmin, hsr, and r among different tumor types. Rings were the most common (3.4%) sign of amplification, followed by dmin (1.3%), and hsr (0.8%). Rings were particularly frequent in malignant mesenchymal tumors, especially liposarcomas (47.5%) and osteosarcomas (23.4%), dmin were prevalent in neuroblastoma (30.9%) and pancreatic carcinoma (21.9%), and hsr frequencies were highest in head and neck carcinoma (14.0%) and neuroblastoma (9.0%). Combining all three amplification markers (dmin/hsr/r), malignant solid tumors consistently exhibited higher frequencies than hematologic disorders and benign solid tumors. The structural characteristics of these amplification markers and their potential role in tumorigenesis and tumor progression highlight the complex interplay between cancer-initiating gene-level alterations, for example, fusion genes, and subsequent amplification dynamics. Further research integrating cytogenetic and molecular approaches is warranted to better understand the underlying mechanisms of these amplifications, in particular, the enigmatic question of why certain malignancies display certain types of amplification. Comparing the present results with molecular genetic data proved challenging because of the diversity in definitions of amplification across studies. This study underscores the need for standardized definitions in future work.
(Less)
- author
- Mandahl, Nils
LU
; Mertens, Fredrik
LU
and Mitelman, Felix
LU
- organization
- publishing date
- 2024-01
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- cancer, chromosomes, double minutes, gene amplification, homogeneously staining regions, ring chromosomes
- in
- Genes Chromosomes and Cancer
- volume
- 63
- issue
- 1
- article number
- e23214
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- pmid:38050922
- scopus:85178925717
- ISSN
- 1045-2257
- DOI
- 10.1002/gcc.23214
- language
- English
- LU publication?
- yes
- id
- 7d039281-71ff-4c06-8fad-2887da139ab5
- date added to LUP
- 2024-01-11 13:41:51
- date last changed
- 2024-04-26 10:29:02
@article{7d039281-71ff-4c06-8fad-2887da139ab5,
abstract = {{<p>Gene amplification is a crucial process in cancer development, leading to the overexpression of oncogenes. It manifests cytogenetically as extrachromosomal double minutes (dmin), homogeneously staining regions (hsr), or ring chromosomes (r). This study investigates the prevalence and distribution of these amplification markers in a survey of 80 131 neoplasms spanning hematologic disorders, and benign and malignant solid tumors. The study reveals distinct variations in the frequency of dmin, hsr, and r among different tumor types. Rings were the most common (3.4%) sign of amplification, followed by dmin (1.3%), and hsr (0.8%). Rings were particularly frequent in malignant mesenchymal tumors, especially liposarcomas (47.5%) and osteosarcomas (23.4%), dmin were prevalent in neuroblastoma (30.9%) and pancreatic carcinoma (21.9%), and hsr frequencies were highest in head and neck carcinoma (14.0%) and neuroblastoma (9.0%). Combining all three amplification markers (dmin/hsr/r), malignant solid tumors consistently exhibited higher frequencies than hematologic disorders and benign solid tumors. The structural characteristics of these amplification markers and their potential role in tumorigenesis and tumor progression highlight the complex interplay between cancer-initiating gene-level alterations, for example, fusion genes, and subsequent amplification dynamics. Further research integrating cytogenetic and molecular approaches is warranted to better understand the underlying mechanisms of these amplifications, in particular, the enigmatic question of why certain malignancies display certain types of amplification. Comparing the present results with molecular genetic data proved challenging because of the diversity in definitions of amplification across studies. This study underscores the need for standardized definitions in future work.</p>}},
author = {{Mandahl, Nils and Mertens, Fredrik and Mitelman, Felix}},
issn = {{1045-2257}},
keywords = {{cancer; chromosomes; double minutes; gene amplification; homogeneously staining regions; ring chromosomes}},
language = {{eng}},
number = {{1}},
publisher = {{John Wiley & Sons Inc.}},
series = {{Genes Chromosomes and Cancer}},
title = {{Gene amplification in neoplasia : A cytogenetic survey of 80 131 cases}},
url = {{http://dx.doi.org/10.1002/gcc.23214}},
doi = {{10.1002/gcc.23214}},
volume = {{63}},
year = {{2024}},
}