Decreased incidence of Merkel cell carcinoma in the younger population (aged below 50 years) in the United States: SEER analysis 2000-2019

Alves, André S.; Scampa, Matteo; Martineau, Jérôme; Kalbermatten, Daniel F.; Oranges, Carlo M.

doi:10.1016/j.jaad.2023.04.008

Cited by 3 publications

(6 citation statements)

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“…To identify genetic risk factors for early-onset MCC, we performed GS on patients diagnosed with MCC when younger than 50 years. 7,8 Participants were identified by searching the MCC database at the University of Washington, wherein 78 of 1637 participants (5%) presented at age younger than 50 years, and 37 of these had peripheral blood mononuclear cells (PBMC) available for sequencing (Figure). Consistent with patientreported race data (not shown to preserve patient privacy), a principal component analysis of ancestry revealed that most participants were of European genomic ancestry (eFigure 1 in Supplement 1).…”

Section: Resultsmentioning

confidence: 99%

“…To identify genetic risk factors for early-onset MCC, we performed GS on patients diagnosed with MCC when younger than 50 years . Participants were identified by searching the MCC database at the University of Washington, wherein 78 of 1637 participants (5%) presented at age younger than 50 years, and 37 of these had peripheral blood mononuclear cells (PBMC) available for sequencing (Figure).…”

Section: Resultsmentioning

confidence: 99%

“…Some evidence suggests that the incidence of early-onset MCC is decreasing; however, other research has shown that the overall incidence of early-onset cancers is on the rise . Although the factors responsible for this increase have yet to be elucidated, changes in lifestyle, environmental exposures, and the presence of germline variants in hereditary cancer genes are all implicated in this alarming trend .…”

Section: Discussionmentioning

confidence: 99%

“…The median age of MCC diagnosis is 76 years . Early-onset MCC—defined here as MCC occurrence in individuals younger than 50 years—accounts for only 4% of cases . Understanding the etiology of MCC is crucial to improving treatments and prevention.…”

Section: Introductionmentioning

confidence: 99%

“…4 Early-onset MCC-defined here as MCC occurrence in individuals younger than 50 years-accounts for only 4% of cases. [5][6][7][8] Understanding the etiology of MCC is crucial to improving treatments and prevention. Because patients with germline cancer predispositions often develop cancer at younger ages, 9,10 we set out to determine whether patients with early-onset MCC harbor germline cancer risk variants.…”

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confidence: 99%

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Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma

Mohsin,

Hunt,

Yan

et al. 2024

JAMA Dermatol

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ImportanceMerkel cell carcinoma (MCC) is a rare, aggressive neuroendocrine skin cancer. Of the patients who develop MCC annually, only 4% are younger than 50 years.ObjectiveTo identify genetic risk factors for early-onset MCC via genomic sequencing.Design, Setting, and ParticipantsThe study represents a multicenter collaboration between the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), the National Institute of Allergy and Infectious Diseases (NIAID), and the University of Washington. Participants with early-onset and later-onset MCC were prospectively enrolled in an institutional review board–approved study at the University of Washington between January 2003 and May 2019. Unrelated controls were enrolled in the NIAID Centralized Sequencing Program (CSP) between September 2017 and September 2021. Analysis was performed from September 2021 and March 2023. Early-onset MCC was defined as disease occurrence in individuals younger than 50 years. Later-onset MCC was defined as disease occurrence at age 50 years or older. Unrelated controls were evaluated by the NIAID CSP for reasons other than familial cancer syndromes, including immunological, neurological, and psychiatric disorders.ResultsThis case-control analysis included 1012 participants: 37 with early-onset MCC, 45 with later-onset MCC, and 930 unrelated controls. Among 37 patients with early-onset MCC, 7 (19%) had well-described variants in genes associated with cancer predisposition. Six patients had variants associated with hereditary cancer syndromes (ATM = 2, BRCA1 = 2, BRCA2 = 1, and TP53 = 1) and 1 patient had a variant associated with immunodeficiency and lymphoma (MAGT1). Compared with 930 unrelated controls, the early-onset MCC cohort was significantly enriched for cancer-predisposing pathogenic or likely pathogenic variants in these 5 genes (odds ratio, 30.35; 95% CI, 8.89-106.30; P &lt; .001). No germline disease variants in these genes were identified in 45 patients with later-onset MCC. Additional variants in DNA repair genes were also identified among patients with MCC.Conclusions and RelevanceBecause variants in certain DNA repair and cancer predisposition genes are associated with early-onset MCC, genetic counseling and testing should be considered for patients presenting at younger than 50 years.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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confidence: 99%

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Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma

Mohsin,

Hunt,

Yan

et al. 2024

JAMA Dermatol

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Survival analysis and clinicopathological features of patients with stage IA lung adenocarcinoma

Li,

Wang,

Liu

et al. 2024

Heliyon

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Dermoscopic characteristics of Merkel cell carcinoma

Koumaki,

Evangelou,

Katoulis

et al. 2024

BMC Cancer

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Background Merkel cell carcinoma (MCC) is a rare, aggressive, cutaneous tumour with high mortality and frequently delayed diagnosis. Clinically, it often manifests as a rapidly growing erythematous to purple nodule usually located on the lower extremities or face and scalp of elderly patients. There is limited available data on the dermoscopic findings of MCC, and there are no specific features that can be used to definitively diagnose MCC. Aim of the study Here, we aimed to summarize existing published literature on dermatoscopic and reflectance confocal microscopy (RCM) features of MCC. Materials and methods To find relevant studies, we searched the PubMed and Scopus databases from inception to April 12, 2023. Our goal was to identify all pertinent research that had been written in English. The following search strategy was employed: (“ dermoscopy” OR “ dermatoscopy” OR “ videodermoscopy” OR “ videodermatoscopy” OR “ reflectance confocal microscopy”) AND “ Merkel cell carcinoma”. Two dermatologists, DK and GE, evaluated the titles and abstracts separately for eligibility. For inclusion, only works written in English were taken into account. Results In total 16 articles were retrieved (68 cases). The main dermoscopic findings of MCC are a polymorphous vascular pattern including linear irregular, arborizing, glomerular, and dotted vessels on a milky red background, with shiny or non-shiny white areas. Pigmentation was lacking in all cases. The RCM images showed a thin and disarranged epidermis, and small hypo-reflective cells that resembled lymphocytes arranged in solid aggregates outlined by fibrous tissue in the dermis. Additionally, there were larger polymorphic hyper-reflective cells that likely represented highly proliferative cells. Conclusion Dermoscopic findings of MCC may play a valuable role in evaluating MCC, aiding in the early detection and differentiation from other skin lesions. Further prospective case-control studies are needed to validate these results.

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Decreased incidence of Merkel cell carcinoma in the younger population (aged below 50 years) in the United States: SEER analysis 2000-2019

Cited by 3 publications

References 4 publications

Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma

Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma

Survival analysis and clinicopathological features of patients with stage IA lung adenocarcinoma

Dermoscopic characteristics of Merkel cell carcinoma

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