33 research outputs found
Population-Based Prevalence of CDKN2A Mutations in Utah Melanoma Families
Cyclin-dependent kinase inhibitor 2A (CDKN2A or p16) is the major melanoma predisposition gene. In order to evaluate the candidacy for genetic testing of CDKN2A mutations among melanoma prone families, it is important to identify characteristics that predict a high likelihood of carrying a CDKN2A mutation. We primarily used a unique Utah genealogical resource to identify independent melanoma prone families whom we tested for mutations in CDKN2A, cyclin-dependent kinase 4, and alternate reading frame. We sampled 60 families which met the inclusion criteria of two or more affected first-degree relatives. We found four different pathogenic CDKN2A mutations in five families, mutations of uncertain significance in two families, and known polymorphisms in three families. One of the mutations of uncertain significance, 5′ untranslated region −25C>T, has not been previously described. Among our population-based set of Utah families, the prevalence of CDKN2A mutations was 8.2% (4/49); the overall prevalence when physician-referred pedigrees were also considered was between 8.3% (5/60) and 10% (6/60). Having four or more first- or second-degree relatives with melanoma, or a family member with ≥3 primary melanomas, correlated strongly with carrying a CDKN2A mutation. We observed a significantly elevated rate of pancreatic cancer in one of four families with a deleterious CDKN2A mutation
Recommended from our members
Capillary hemangioma associated with dermal atrophy masquerading as a deep fungal infection
Hemangiomas are benign vascular neoplasms which arise in early adulthood. Herein we present a 79-year-old woman with a hemangioma of the lower flank masquerading as a cutaneous manifestation of a systemic fungal infection upon initial histological analysis. Decreased elastin and collagen within the lesion likely accounted for the clumping and splaying of the capillaries into “hyphae-like” structures. Loss of dermal elastic tissue and collagen apparently concentrated the capillary proliferation into an unusual morphology mimicking the hyphal structures. Through additional staining methods the lesion was confirmed to be an unusual presentation of a capillary hemangioma
Recommended from our members
Cutaneous metastasis as a first sign of adenocarcinoma of the cervix
Cervical cancer remains one of the most common malignancies diagnosed in women as well as a leading cause of cancer related deaths in women worldwide. Cutaneous metastasis associated with cervical malignancy is a remarkably rare phenomenon. We present a patient whose cutaneous signs led to the diagnosis of metastatic adenocarcinoma of the cervix
Recommended from our members
Capillary hemangioma associated with dermal atrophy masquerading as a deep fungal infection
Hemangiomas are benign vascular neoplasms which arise in early adulthood. Herein we present a 79-year-old woman with a hemangioma of the lower flank masquerading as a cutaneous manifestation of a systemic fungal infection upon initial histological analysis. Decreased elastin and collagen within the lesion likely accounted for the clumping and splaying of the capillaries into “hyphae-like” structures. Loss of dermal elastic tissue and collagen apparently concentrated the capillary proliferation into an unusual morphology mimicking the hyphal structures. Through additional staining methods the lesion was confirmed to be an unusual presentation of a capillary hemangioma
Recommended from our members
Drug-Induced dermatomyositis following COVID-19 vaccination
Dermatomyositis (DM) is a multi-organ idiopathic inflammatory myopathy that presents with proximal symmetric muscle weakness accompanied by characteristic cutaneous findings. Most individuals present with skin manifestations prior to muscle involvement and its course can involve the blood vessels, joints, esophagus, and lungs and can be paraneoplastic, making a malignancy assessment imperative. Although its etiology is unknown, type I interferon appears to be a component in evoking the characteristic inflammatory response and patients with DM often have an increase in type I inducible genes. Suspected triggers for DM are environmental factors, drugs, viral infections, and vaccines. The association of DM with vaccination poses a new conundrum within the medical community as people continue to get vaccinated and boosted with SARS-CoV2 vaccines, though it is worth noting that the most common challenges arose as type I hypersensitivity reactions and new onset autoimmune disorders are rare. Presented here is a 53-year-old man who was diagnosed with DM after receiving the second dose of the Pfizer vaccine. His case highlights the importance of the potential onset of autoimmune diseases following the COVID-19 vaccine, a phenomenon that clinicians should be aware of as the discourse concerning the pandemic continues