Clinical and genetic characterization of basal cell carcinoma and breast cancer in a single patient

Abstract

IntroductionMultiple environmental and genetic factors are involved with the development of basal cell carcinomas (BCC), as well as with breast cancers. Tumor initiation and progression are often associated with genomic instability such as aneuploidies, and gains or losses of large chromosomal segments, known as copy number alterations (CNAs). CNAs have been successfully detected using the microarray comparative genomic hybridization technique (array-CGH) at high resolution. Data thus obtained are useful to identify specific genomic aberrations, to classify tumor stages, and to stratify subgroups of patients with different prognosis and clinical behaviors.Case descriptionClinical study of a 66-year-old white female identified two primary tumors, a ductal invasive grade-II carcinoma of the breast, and one nodular BCC. Germline and tumor genomic survey utilized the 180 K array-CGH analysis to investigate chromosomal alterations.Discussion and evaluationSeveral chromosomal anomalies were detected in the breast tumor genome, including focal ~422 Kb 13q13.3 microdeletion. In the BCC, amplification of a chromosome 6 spanning the centromere region between the cytobands 6p23 and 6q12 was identified. Several 6p amplified genes correspond to families of histone and human leukocyte antigen genes, whereas some of the CNAs found in the breast tumor are uncommon. No germline CNA was detected in the normal skin of the patient at this technical resolution.ConclusionCNAs found in the two different tumors of the patient constitute independent events arisen in the somatic lineage. Relevant genes to both carcinogenesis and progression are to be affected by these CNAs.Electronic supplementary materialThe online version of this article (doi:10.1186/2193-1801-3-454) contains supplementary material, which is available to authorized users.

Contribution of histone variants to aneuploidy: a cancer perspective

“…Nevertheless, it appears that aberrations in histones is a yet undefined component of cancer, whether is a cause or a consequence. This is also supported by numerous reports of amplifications of the histone clusters loci in cancers, suggesting a functional advantage; for instance, the histone clusters loci are frequently subjected to copy number variation (mainly amplifications) in gastric cancer (Gorringe et al, 2005), in breast and basal cell carcinomas (Morelle et al, 2014), leukaemia (Holmfeldt et al, 2013;Simonetti et al, 2019), ovarian cancer (Zhao et al, 2016), and osteosarcoma (Sadikovic et al, 2009;Pires et al, 2022).…”

Investigation of Genetic Mutations in High-risk and Low-risk Basal Cell Carcinoma in a Non-Caucasian Population by Whole Exome Sequencing

“…Amplification of chromosome 6 was identified only in low-risk BCCs that contained ROS1 proto-oncogene at 6q22. Gains associated with chromosome 6 have been of interest in previous studies, especially since this chromosome contains a number of genes associated with cancer, such as tumour suppressor gene CDKN1A ( 24 ) and oncogenes including VEGF and AP2 ( 25 ). Although the differences in profile of driver mutations between low-risk and high-risk BCCs did not reach statistical significance, due to small sample size, exploratory analysis of the results suggests a link between oncogenic mutations in the genes and histological subtype, and suggests that tumorigenic pathways might vary among the BCC subtypes.…”

Carcinome basocellulaire apparu en cours de traitement d’un cancer du sein par trastuzumab

“…Dans l'é tude gé nomique de Morelle et al [13], l'alté ration chromosomique observé e chez une patiente âgé e de 66 ans atteinte de tumeurs mammaire et cutané e (carcinome basocellulaire) é tait pré sente seulement pour le carcinome mammaire é cartant ainsi, a priori, l'hypothè se de l'alté ration gé nomique.…”