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Clinical factors associated with skin neoplasms in individuals with Lynch syndrome in a longitudinal observational cohort - 01/06/23

Doi : 10.1016/j.jaad.2023.01.035 
Connie S. Zhong, MD, MSc a, b, Miki Horiguchi, PhD b, c, Hajime Uno, PhD b, c, Chinedu Ukaegbu, MBBS, MPH b, c, d, Anu Chittenden, MS, LGC b, d, Nicole R. LeBoeuf, MD, MPH a, b, e, Sapna Syngal, MD, MPH b, c, d, f, Vinod E. Nambudiri, MD, MBA, EdM a, b, e, Matthew B. Yurgelun, MD b, c, d, f, g,
a Brigham & Women's Hospital, Department of Dermatology, Boston, Massachusetts 
b Harvard Medical School, Boston, Massachusetts 
c Dana-Farber Cancer Institute, Division of Population Sciences, Department of Medical Oncology, Boston, Massachusetts 
d Dana-Farber Cancer Institute, Department of Medical Oncology, Center for Cancer Genetics and Prevention, Boston, Massachusetts 
e Dana-Farber Cancer Institute, Department of Medical Oncology, Center for Cutaneous Oncology, Boston, Massachusetts 
f Brigham & Women's Hospital, Department of Medicine, Boston, Massachusetts 
g Dana-Farber Cancer Institute, Department of Medical Oncology, Gastrointestinal Cancer Center, Boston, Massachusetts 

Correspondence to: Matthew B. Yurgelun, MD, Dana-Farber Cancer Institute, 450 Brookline Ave, Dana 1126, Boston, MA 02215.Dana-Farber Cancer Institute450 Brookline Ave, Dana 1126BostonMA02215

Abstract

Background

Little is known about patient-specific risk factors for skin neoplasia in individuals with Lynch syndrome (LS).

Objective

Identify clinical factors associated with development of skin neoplasms in LS.

Methods

Clinical data were systematically collected on a cohort of LS carriers (confirmed pathogenic germline variants in MLH1, MSH2, MSH6, PMS2, or EPCAM) age ≥18 undergoing clinical genetics care at Dana-Farber Cancer Institute from January 2000 to March 2020. Multivariable logistic regression was performed to evaluate clinical factors associated with skin neoplasia.

Results

Of 607 LS carriers, 9.2% had LS-associated skin neoplasia and 15.0% had non-LS-associated skin neoplasia; 58.2% (353/607) had documentation of prior dermatologic evaluation; 29.7% (38/128) with skin neoplasms lacked a history of visceral LS-associated malignancy. LS-associated skin neoplasms were significantly associated with male sex, age, race, MLH1 pathogenic germline variants, MSH2/EPCAM pathogenic germline variants, and personal history of non-LS skin neoplasms. Non-LS-associated skin neoplasms was significantly associated with age, number of first- and second-degree relatives with non-LS-associated skin neoplasms, and personal history of LS-associated skin neoplasms.

Limitations

Single-institution observational study; demographic homogeneity.

Conclusions

Skin neoplasms are common in individuals with LS. We identified clinical factors associated with LS- and non-LS-associated skin neoplasms. Regular dermatologic surveillance should be considered for all LS carriers.

Le texte complet de cet article est disponible en PDF.

Key words : hereditary, HNPCC, keratoacanthoma, Muir-Torre syndrome, sebaceous

Abbreviation used : CI, DNA, IQR, LS, MTS, OR, PGV


Plan


 Drs Syngal, Nambudiri and Yurgelun are co-senior authors.
 Funding sources: Supported by the National Institutes of Health (National Cancer Institute) R01CA132829 (S.S.), and the Helen Gurley Brown Presidential Initiative (C.U.), the Lesswitz Fund for Lynch syndrome (M.B.Y.), the Sweet Family Fund (M.B.Y.), and The Terry T. Sweet Fund for Lynch syndrome (M.B.Y.).
 Preliminary data from this manuscript were presented as an abstract at the 2019 Annual Meeting of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer in Salt Lake City, UT, USA, November 3 to 5, 2019.
 IRB approval status: The study was approved by the Dana-Farber/Harvard Cancer Center Institutional Review Board (Boston, MA), which deemed this to be secondary research, and thus a waiver of the need for informed consent was granted.
 Reprints not available from the authors.


© 2023  American Academy of Dermatology, Inc.. Publié par Elsevier Masson SAS. Tous droits réservés.
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Vol 88 - N° 6

P. 1282-1290 - juin 2023 Retour au numéro
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