Retrospective study of germline variants in patients with hereditary melanoma study criteria in a real clinical practice setting.

INTRODUCTION: Five to twelve percent of melanomas show aggregation of melanomas or other related tumors within the same family or individual. Genes such as CDKN2A, or BAP1, among others, have been involved in this condition. MATERIAL AND METHODS: Retrospective descriptive study that includes patients from Cruces University Hospital (2016-2023) who met any of the following criteria: presence of two or more melanomas (1), or a melanoma and a pancreatic cancer (2) in the same individual; presence of a melanoma in an individual and one or more first- or second-degree relatives with melanoma or pancreatic cancer (3); first- or second-degree relationship with an individual with a known deleterious variant in genes related to melanoma predisposition (4); or incidental discovery of deleterious variants in genes related to predisposition to melanoma, within hereditary cancer panels carried out for reasons other than melanoma (5). RESULTS: 59 families were included (69 patients; 63.8% women), of which 8.5% (13% of patients) presented pathogenic/likely pathogenic variants (PV/LPV) in CDKN2A (6% of families and patients, excluding criteria 4 and 5), and 1.7% of families (1.4% of patients) presented PV/LPV in BAP1, BRCA2 and TERF2IP. DISCUSSION AND CONCLUSIONS: The frequencies of PV/LPV in CDKN2A are similar to those previously described. This study could contribute to the knowledge of the characteristics of patients who meet genetic study criteria for hereditary melanoma, in a setting of real clinical practice.

[A Case of Cutaneous Tuberculosis is Simulating Paraneoplastic Vasculitis]. / Un caso de tuberculosis cutánea semejante a una vasculitis paraneoplásica.

We present the case of a patient with type T non-Hodgkin lymphoma, in clinical remission after treatment with chemo and radiotherapy, who was hospitalized due to hemorrhagic and necrotic skin lesions on his right hand and a clinical suspicion of paraneoplasic vasculitis. Nonetheless, study of the patient and complementary testing led to the diagnosis of disseminated tuberculosis with skin and lung involvement (cutaneous milliary tuberculosis). Anti-tuberculosis treatment was initiated with a satisfactory resolution of symptoms and signs.