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Wide, local excision with clear margins, of 1-2 cm, with or without lymph node dissection is the standard treatment.7 Makela I et al i .8 described in 2021 the first CAA case with a BRCAness genetic background and a I PALB2 i biallelic inactivation at the tumour level. There was neither clinical nor radiologic/pathology findings favouring male breast cancer as a primary tumour. About 200 cases are reported to date with less than 30 metastatic cases.1 Partner and localizer of BRCA2 ( I PALB2 i ) is a tumour suppressor gene mainly involved in breast adenocarcinoma predisposition. [Extracted from the article]

Patient is still in complete remission of her SUSCC after 11 years and did not show any other tumour of the I BAP1 i -TPDS whereas several I BAP1 i -inactivated melanocytic tumour (BIMT) were treated in her children. (d) Immunohistochemical study: Loss of nuclear BAP1 expression in tumour cells but not in adjacent uninvolved ones (C4, monoclonal, mouse, Diagomics). gl I BAP1 i is a tumour suppressor gene, located on chromosome 3 (3p21.1). Here, we report a case of unusual SUSCC in a patient carrier of a germline I BAP1 i pathogenic variant, therefore, extending the spectrum of skin tumours in this Tumour Predisposing Syndrome ( I BAP1 i -TPDS). [Extracted from the article]

Background Abiraterone (ABI) is a major oral agent for the treatment of metastatic castration-resistant prostate cancer (mCRPC) patients but its systemic exposure is subject to a large inter-individual variability. We aimed to explore the relationship between ABI trough plasma concentration and prostate-specific antigen (PSA) response in mCRPC patients and to identify the critical determinants for its activity. Patients and methods This is a monocentric prospective observational study in mCRPC patients treated with ABI. The plasmatic concentration of ABI at steady state was measured using liquid chromatography with fluorescence detection. The primary objective was to study the relationship between mean ABI plasma exposure (ABI C min ) and 3-month PSA response. Results From 2012 to 2016, 61 mCRPC patients were eligible for pharmacokinetic/pharmacodynamic assessment. Thirty-eight patients experienced PSA response (62%, [confidence interval {CI} 95% 50–78]). In univariate analysis, ABI C min was 1.5-fold higher in responders: 12.0 ng/mL (CI 95% 9.4–15.6) versus 8.0 ng/mL (CI 95% 5.8–11.6; P = 0.0015). In multivariate analysis, only ABI C min was independently associated with PSA response (odds ratio = 1.12 [CI 95% 1.01–1.25], P = 0.004). By receiver operating characteristic analysis, the optimal threshold for ABI C min was 8.4 ng/mL. Progression-free survival (PFS) was significantly higher in patients with ABI C min above 8.4 ng/mL (hazard ratio 0.55, [CI 95% 0.31–0.99], 12.2 [CI 95% 9.2–19.5] versus 7.4 [CI 95% 5.5–14.7] months otherwise, P = 0.044). Conclusions We showed that ABI trough concentration correlates with PSA response and PFS. Moreover, we could determine a cut-off value of plasmatic concentration for PSA response. Altogether, ABI concentration monitoring appears as a new approach to improve clinical outcome in mCPRC patients. [ABSTRACT FROM AUTHOR]

Retinoblastoma is the most common paediatric neoplasm of the retina, and one of the earliest model of cancer genetics since the identification of the master tumour suppressor gene RB1. Tumorigenesis has been shown to be driven by pathogenic variants of the RB1 locus, but also genomic and epigenomic alterations outside the locus. The increasing knowledge on this "mutational landscape" is used in current practice for precise genetic testing and counselling. Novel methods provide access to pre-therapeutic tumour DNA, by isolating cell-free DNA from aqueous humour or plasma. This is expected to facilitate assessment of the constitutional status of RB1 , to provide an early risk stratification using molecular prognostic markers, to follow the response to the treatment in longitudinal studies, and to predict the response to targeted therapies. The aim of this review is to show how molecular genetics of retinoblastoma drives diagnosis, treatment, monitoring of the disease and surveillance of the patients and relatives. We first recap the current knowledge on retinoblastoma genetics and its use in every-day practice. We then focus on retinoblastoma subgrouping at the era of molecular biology, and the expected input of cell-free DNA in the field. [ABSTRACT FROM AUTHOR]