Mosaic aneuploidy in a patient with periocular basal cell carcinoma.  Report of a case

Authors

DOI:

https://doi.org/10.56294/sctconf2024.697

Keywords:

basal cell carcinoma, aneuploidy, chromosome

Abstract

Basal cell carcinoma constitutes approximately 80% of non-melanocytic skin tumors and originates in the basal layer of the epidermis and its appendages. Genetic alterations that affect neoplastic development have been identified, caused by external physical or chemical agents, hereditary, chromosomal rearrangements, allelic loss and gene amplification. 
This article presents a white-skinned male individual, 64 years old, with a diagnosis of periocular basal cell carcinoma, who underwent a cytogenetic study of the tumor tissue and a mosaic chromosomal aneuploidy was identified.
The presence of mosaic aneuploidy in patients with periocular basal cell carcinoma suggests that chromosomal aberrations may play an important role in tumor progression and aggressiveness. This finding highlights the need to integrate cytogenetic studies in the clinical evaluation of skin tumors, facilitating a better understanding of the underlying biological mechanisms, opening new avenues for therapeutic research.

References

1. Jiménez Barbán Y, Vega Pupo C, Vila Pinillo D, Fernández Ychaso G, Arias Núñez V, Bello Rivero I. Uso de HeberPAG en carcinoma basocelular periocular. Revista Cubana de Oftalmología. 2014;27(3):482-9.

Disponible en:https://www.google.com/search?client=firefox-b-e&q.

2. Marks JG, Miller JJ, Hollins LC. Lookingbill and Marks' Principles of Dermatology-E-Book: Elsevier Health Sciences; 2024. Disponible en https://shop.elsevier.com/books

3. Verkouteren B, Cosgun B, Reinders M, Kessler P, Vermeulen R, Klaassens M, et al. A guideline for the clinical management of basal cell naevus syndrome (Gorlin–Goltz syndrome). The British Journal of Dermatology. 2022;186(2):215. Disponible en https://pubmed.ncbi.nlm.nih.gov doi: 10.1111/bjd.20700.

4. Nieto LMA, Patiño LFS, Estepa HP. Actualización en carcinoma basocelular periocular: abordaje semiológico y diagnóstico diferencial. Ciencia y Tecnología para la Salud Visual y Ocular. 2019;17(1):3. Disponible en https://www.semanticscholar.org/paper doi :10.19052/SV.VOL17.ISS1.4.

5. Sánchez Linares V, Ríos Rodríguez ME, Román Simón M, Pérez García CD, Díaz Hernández Y, Bello-Rivero I. HeberFERON en el carcinoma basocelular periocular. Serie de casos. Gaceta Médica Espirituana. 2021;23(1):35-45. Disponible en http://scielo.sld.cu/scielo.php.

6. Bezerra KPG, de Souza MdF, Borges OMM, de Lucena RB, Talieri IC, de Souza AP. Carcinoma de células escamosas multicêntrico com envolvimento de anexos oculares em um cão. Acta Scientiae Veterinariae. 2020;48(1):511. Disponible en https://pesquisa.bvsalud.org/portal/resource/pt/vti-31760.

7. Wijaya JK, Djawad K, Wahab S, Nurdin A, Anwar AI. Locally Advanced and Metastatic Basal Cell Carcinoma: Update on Hedgehog Pathway Inhibitors. 2022. Disponible en https://pubmed.ncbi.nlm.nih.gov/35697404/doi: 10.1016/j.ad.2022.01.005

8. Walsh MF, Cadoo K, Salo-Mullen EE, Dubard-Gault M, Stadler ZK, Offit K. Genetic factors: Hereditary cancer predisposition syndromes. Abeloff's clinical oncology. 2020:180-208.e11.Disponible en https://www.sciencedirect.com/science/article/abs/pii/B978032347674400013X.

9. Clemente-Ruiz M, Murillo-Maldonado JM, Benhra N, Barrio L, Perez L, Quiroga G, et al. Gene dosage imbalance contributes to chromosomal instability-induced tumorigenesis. Developmental cell. 2016;36(3):290-302. Disponible en https://pubmed.ncbi.nlm.nih.gov/26859353/ doi: 10.1016/j.devcel.2016.01.008.

10. Jacobs KB, Yeager M, Zhou W, Wacholder S, Wang Z, Rodriguez-Santiago B, et al. Detectable clonal mosaicism and its relationship to aging and cancer. Nature Genetics. 2012;44(6):651-8. Disponible en https://www.nature.com/articles/ng.2270.

11. Rojas-Atencio A, Urdaneta K, Estrada P, Soto-Alvarez M, Borjas-Fajardo L, Boscan A, et al. Anomalías cromosómicas clónales en tumores colorectales. Investigación Clínica. 2002;43(4):263-70. Disponible en http://ve.scielo.org/scielo.php?script=sci_arttext&pid=S0535-51332002000400005.

12. González GE, Bolzán AD, Steinberg E, Catanesi CI, Villegas Castagnasso E. Citogenética aplicada. Libros de Cátedra. 2021. Disponible en http://sedici.unlp.edu.ar/handle/10915/131496.

13. Shih J, Sarmashghi S, Zhakula-Kostadinova N, Zhang S, Georgis Y, Hoyt SH, et al. Cancer aneuploidies are shaped primarily by effects on tumour fitness. Nature. 2023;619(7971):793-800. Disponible en https://www.nature.com/articles/s41586-023-06266-3.

14. Girish V, Lakhani AA, Thompson SL, Scaduto CM, Brown LM, Hagenson RA, et al. Oncogene-like addiction to aneuploidy in human cancers. Science. 2023;381(6660):eadg4521. Disponible en https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9882055/.

15. Martínez-Glez V, Tenorio J, Nevado J, Gordo G, Rodríguez-Laguna L, Feito M, et al. A six-attribute classification of geneticmosaicism. Genetics in Medicine. 2020;22(11):1743-57. Disponible en https://www.nature.com/articles/s41436-020-0877-3.

16. Jacobs KB, Yeager M, Zhou W, Group DMS, Hoover RN, Real FX, et al. The aging genome: Genetic mosaicism and its relationship to cancer. Cancer Research. 2012;72(8_Supplement):3110-. Disponible en https://www.isglobal.org.

17. Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, et al. The DNA sequence and biology of human chromosome 19. Nature. 2004;428(6982):529-35. Disponible en https://www.nature.com/articles/nature02399.

Downloads

Published

2024-10-16

How to Cite

1.
Morales Rodríguez E, Castelvi López A, García Gómez D, Fernández González O, Sabó Sánchez D. Mosaic aneuploidy in a patient with periocular basal cell carcinoma.  Report of a case. Salud, Ciencia y Tecnología - Serie de Conferencias [Internet]. 2024 Oct. 16 [cited 2024 Nov. 21];3:.697. Available from: https://conferencias.ageditor.ar/index.php/sctconf/article/view/697