Response to ‘Cutaneous squamous cell carcinoma is associated with Lynch syndrome: widening the spectrum of Lynch syndrome‐associated tumours’

Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review

“…Recently, Ykema et al reported ten SCCs in seven molecularly confirmed Lynch Syndrome cases, all of which were IHC deficient (100%), but only three of 9 assessed for microsatellite instability (33%) demonstrated MSI [10]. Sowter et al, in his response to Ykema et al study, strengthened this link by testing nine SCCs from seven other molecularly confirmed cases (data outside of the timeframe of this review), and found that eight tumours were MSI-H (89%) [12]. Although in both studies the total number of SCCs and patients were small, the findings of immunohistochemically demonstrated MMR deficiency and/or MSI suggests that the underlying diagnosis of Lynch Syndrome is clinically relevant to the pathogenesis of such cancers.…”

“…In a small but substantial minority (34.7%) of patients, the cutaneous lesion predated the visceral tumours by a median of 1 year (0-19). In those patients where LS was not immediately recognised, the interval between diagnosis of cutaneous and visceral tumours was prolonged, up to a median of 7 years (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19).…”

“…Sebaceous neoplasms and keratoacanthomas occur as part of a well-recognised phenotypic variant of LS, known as Muir-Torre syndrome (MTS) [8,9]. Other types of reported cutaneous neoplasia occurring within the context of LS include basal cell carcinomas (BCC) and squamous cell carcinomas (SCC) [10][11][12][13]. It has not yet been determined if the risk of non-sebaceous cutaneous malignancies is attributable to patients' underlying genotype.…”

Head and Neck Cancer: United Kingdom National Multidisciplinary Guidelines, Sixth Edition

“…Genetic syndromes are associated with the risk of non-melanoma skin cancer, such as Gorlin syndrome (BCC), Muir–Torre syndrome which is a phenotypic variant of Lynch syndrome (characterised by keratoacanthomas and sebaceous tumours, but also with an increased risk of cutaneous SCCs), and xeroderma pigmentosa (melanoma and non-melanoma skin cancer). 1133 Immunosuppression is also a significant risk factor. Human papilloma virus infection (beta types), particularly in the immunosuppressed, is also an important aetiological factor in cutaneous SCC.…”