ATM Variant as a Cause of Hereditary Cutaneous Melanoma in a Spanish Family: Case Report.

Introduction: Ataxia-Telangiectasia Mutated (ATM) is a cancer predisposition gene; carriers of germline pathogenic variants have an increased risk of developing malignancies, including breast, prostate, pancreatic, and ovarian cancer. Most ATM variants are of uncertain significance. Findings from genome-wide association studies (GWAS) suggest that ATM may be a low-risk melanoma susceptibility locus. Case Report: We report the case of a Hispanic family whose members who have presented cutaneous melanoma have been found to be carriers for the ATM pathogenic variant c.3747-1G>C (rs730881364), one of whom was diagnosed at 24 years old. Discussion: We describe for the first time the possible clinical association between ATM (c.3747-1G>C) and familial melanoma. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and will result in the creation or strengthening of a novel splice acceptor site, assuming a variant that entails loss of functionality that is probably pathogenic and related to oncogenesis. However, we cannot exclude that cutaneous melanoma in both members and at an early age is the result of chance, environmental interaction, other uncontrolled external factors, or the interaction of other genetic alterations other than the ATM variant described in this study.

Corticodependent and recurrent inflammatory pseudo tumor. Analysis of cases and review.

Inflammatory pseudo tumor (IP) is an infrequent process with benign evolution in most cases whose etiology and pathogenesis are unknown. It usually affects young men and children, in whom the macroscopic lesion can mimic a malignant process, which is ruled out after biopsy. Therefore, the diagnosis of certainty is histological and treatment consists of corticosteroids, leaving resection for cases in which biopsy is not possible or in which it produces local complications. We present a case of an inflammatory pseudo tumor with special corticodependence that began as a long-term periodic fever and splenic focal lesion that required splenectomy for its diagnosis and that, after decreasing the corticosteroid regimen, presented recurrences at the cerebellar and systemic level requiring the association of various immunosuppressants and rituximab to achieve remission. As a result of this case, we have performed an analysis of all the pseudo tumors diagnosed in adults in the hospitals of the province of Malaga, and it has been compared with that described in the bibliography.