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Association of germline variants in telomere maintenance genes (POT1, TERF2IP, ACD, and TERT) with spitzoid morphology in familial melanoma: A multi-center case series.
Goldstein, Alisa M; Qin, Richard; Chu, Emily Y; Elder, David E; Massi, Daniela; Adams, David J; Harms, Paul W; Robles-Espinoza, Carla Daniela; Newton-Bishop, Julia A; Bishop, D Timothy; Harland, Mark; Holland, Elizabeth A; Cust, Anne E; Schmid, Helen; Mann, Graham J; Puig, Susana; Potrony, Miriam; Alos, Llucia; Nagore, Eduardo; Millán-Esteban, David; Hayward, Nicholas K; Broit, Natasa; Palmer, Jane M; Nathan, Vaishnavi; Berry, Elizabeth G; Astiazaran-Symonds, Esteban; Yang, Xiaohong R; Tucker, Margaret A; Landi, Maria Teresa; Pfeiffer, Ruth M; Sargen, Michael R.
Affiliation
  • Goldstein AM; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
  • Qin R; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
  • Chu EY; Department of Dermatology, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania.
  • Elder DE; Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania.
  • Massi D; Section of Pathological Anatomy, Department of Health Sciences, University of Florence, Florence, Italy.
  • Adams DJ; Experimental Cancer Genetics, The Wellcome Trust Sanger Institute, Hinxton, England.
  • Harms PW; Department of Pathology, University of Michigan, Ann Arbor, Michigan.
  • Robles-Espinoza CD; Experimental Cancer Genetics, The Wellcome Trust Sanger Institute, Hinxton, England.
  • Newton-Bishop JA; Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Campus Juriquilla, Santiago de Querétaro, Qro, Mexico.
  • Bishop DT; Division of Haematology and Immunology, Institute of Medical Research at St James's, University of Leeds, Leeds, England.
  • Harland M; Division of Haematology and Immunology, Institute of Medical Research at St James's, University of Leeds, Leeds, England.
  • Holland EA; Division of Haematology and Immunology, Institute of Medical Research at St James's, University of Leeds, Leeds, England.
  • Cust AE; The Daffodil Centre, The University of Sydney, a joint venture with Cancer Council, NSW, Sydney, Australia.
  • Schmid H; Centre for Cancer Research, Westmead Institute for Medical Research, The University of Sydney, Sydney, Australia.
  • Mann GJ; The Daffodil Centre, The University of Sydney, a joint venture with Cancer Council, NSW, Sydney, Australia.
  • Puig S; Sydney School of Public Health, The University of Sydney, Sydney, NSW, Australia.
  • Potrony M; Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
  • Alos L; The Daffodil Centre, The University of Sydney, a joint venture with Cancer Council, NSW, Sydney, Australia.
  • Nagore E; Centre for Cancer Research, Westmead Institute for Medical Research, The University of Sydney, Sydney, Australia.
  • Millán-Esteban D; Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
  • Hayward NK; Centre for Cancer Research, Westmead Institute for Medical Research, The University of Sydney, Sydney, Australia.
  • Broit N; Melanoma Institute Australia, The University of Sydney, Sydney, NSW, Australia.
  • Palmer JM; John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia.
  • Nathan V; Melanoma Unit, Department of Dermatology, Hospital Clínic de Barcelona, IDIBAPS, Barcelona University, Barcelona, Spain.
  • Berry EG; Centre of Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain.
  • Astiazaran-Symonds E; Centre of Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain.
  • Yang XR; Melanoma Unit, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, IDIBAPS, Barcelona University, Barcelona, Spain.
  • Tucker MA; Pathology Department, Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona, Spain.
  • Landi MT; Department of Dermatology, Fundación Instituto Valenciano de Oncología, València, Spain.
  • Pfeiffer RM; School of Medicine, Universidad Católica de València San Vicente Mártir, València, Spain.
  • Sargen MR; Department of Dermatology, Fundación Instituto Valenciano de Oncología, València, Spain.
JAAD Int ; 11: 43-51, 2023 Jun.
Article de En | MEDLINE | ID: mdl-36876055
ABSTRACT

Background:

Spitzoid morphology in familial melanoma has been associated with germline variants in POT1, a telomere maintenance gene (TMG), suggesting a link between telomere biology and spitzoid differentiation.

Objective:

To assess if familial melanoma cases associated with germline variants in TMG (POT1, ACD, TERF2IP, and TERT) commonly exhibit spitzoid morphology.

Methods:

In this case series, melanomas were classified as having spitzoid morphology if at least 3 of 4 dermatopathologists reported this finding in ≥25% of tumor cells. Logistic regression was used to calculate odds ratios (OR) of spitzoid morphology compared to familial melanomas from unmatched noncarriers that were previously reviewed by a National Cancer Institute dermatopathologist.

Results:

Spitzoid morphology was observed in 77% (23 of 30), 75% (3 of 4), 50% (2 of 4), and 50% (1 of 2) of melanomas from individuals with germline variants in POT1, TERF2IP, ACD, and TERT, respectively. Compared to noncarriers (n = 139 melanomas), POT1 carriers (OR = 225.1, 95% confidence interval 51.7-980.5; P < .001) and individuals with TERF2IP, ACD, and TERT variants (OR = 82.4, 95% confidence interval 21.3-494.6; P < .001) had increased odds of spitzoid morphology.

Limitations:

Findings may not be generalizable to nonfamilial melanoma cases.

Conclusion:

Spitzoid morphology in familial melanoma could suggest germline alteration of TMG.
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Type d'étude: Risk_factors_studies Langue: En Journal: JAAD Int Année: 2023 Type de document: Article
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Type d'étude: Risk_factors_studies Langue: En Journal: JAAD Int Année: 2023 Type de document: Article