Abstract 136P
Background
Malignant mesothelioma (MM) is associated with asbestos exposure and about 10–15% of patients are carriers of germline pathogenic or likely pathogenic variants (GPV/GLPV) in genes associated with cancer predisposition. The prevalence of GPV/GLPV in patients diagnosed with MM in our country is unknown.
Methods
All patients signed the informed consent and were prospectively tested using a custom NGS panel covering 164 cancer-predisposing genes. We present preliminary results from a cohort of 66 patients diagnosed with pleural and peritoneal malignant mesothelioma (MM) at the Catalan Institute of Oncology.
Results
Median age was 70.5 (46–88) and 70% were males. 60 patients had pleural and 6 peritoneal MM and most patients had epithelioid MM (86%). Most patients had history or probable exposure to asbestos (44% and 23%, respectively). Nine patients had personal history of cancer and 44 (67%) had family history of cancer (first degree relative). Eight patients (12.1%) harbored GPV/GLPV in 6 genes: BAP1 (n = 2), BARD1 (n = 2), FANCA (n = 1), RECQL4 (n = 1), SBDS (n = 1), SDHC (n = 1). Five patients (7.5%) were referred to Genetic Counselling. Patients with GPV/GLPV compared to their counterparts were more likely to have personal and family history of cancer, lack of asbestos exposure, however these differences were not statistically significant probably due to the limited statistical power (table). We will present updated results of this study at the ELCC 2023.
Table: 136PClinicopathological and epidemiological features of carriers of GPV/GLPV with their counterparts
| GPV/GLPV (n = 8) | No GPV/GLPV (n = 58) | P-value | |
|---|---|---|---|
| Age, median (range) | 69 (46–86) | 70.5 (52–88) | 0.302 |
| Gender, n (%) Male Female | 7 (87.5%) 1 (12.5%) | 39 (67%) 19 (33%) | 0.418 |
| Asbestos exposure, n (%) Yes Probable No | 1 (12.5%) 2 (25%) 5 (62.5%) | 28 (48.3%) 13 (22.4%) 17 (29.3%) | 0.111 |
| Personal history of cancer, n (%) Yes No | 2 (25%) 6 (75%) | 7 (12%) 50 (88%) | 0.305 |
| Family history of cancer, n (%) Yes No | 7 (87.5%) 1 (12.5%) | 37 (67%) 18 (33%) | 0.417 |
| Mesothelioma location, n (%) Pleural Peritoneal | 6 (75%) 2 (25%) | 54 (93%) 4 (7%) | 0.151 |
| Histological subtype, n (%) Epithelioid Non-epithelioid | 7 (87.5%) 1 (12.5%) | 50 (86%) 8 (14%) | 0.702 |
Conclusions
In this series, 12.1% of patients with malignant mesothelioma harbored GPV/GLPV and 7.5% were candidates to be referred to Genetic Counselling. Germline molecular testing should be considered in patients diagnosed with MM.
Legal entity responsible for the study
Catalan Institute of Oncology.
Funding
PI21/00789.
Disclosure
E. Nadal: Financial Interests, Personal, Advisory Board: Roche, Bristol Myers Squibb, Merck Sharp Dohme, Boehringer Ingelheim, Eli Lilly, Janssen, Pfizer, Merck Serono, Daiichi Sankyo, AstraZeneca, Takeda, Amgen, Sanofi; Financial Interests, Personal, Invited Speaker: Roche, Bristol Myers Squibb, Merck Sharp Dohme, Boehringer Ingelheim, Eli Lilly, Pfizer, Sanofi, AstraZeneca, Takeda, Amgen; Financial Interests, Personal and Institutional, Funding, Clinical trial funded by Roche: Roche; Financial Interests, Personal and Institutional, Funding, BMS funded a clinical trial: Bristol Myers Squibb; Financial Interests, Personal and Institutional, Funding, Merck Serono funded a clinical trial: Merck Serono. All other authors have declared no conflicts of interest.