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

Abstract

5 Cancer Australia. National and jurisdictional data on the impact of COVID-19 on medical services and procedures in Australia: breast, colorectal, lung, prostate and skin cancers. Available at: https:// www.canceraustralia.gov.au/National_and_jurisdictional_data_on_the_ impact_of_COVID-19_on_medical_services_and_procedures (last accessed 30 April 2021). 6 Asai Y, Nguyen P, Hanna TP. Impact of the COVID-19 pandemic on skin cancer diagnosis: a population-based study. PLOS ONE 2021; 16:e0248492. 7 Marson JW, Maner BS, Harding TP et al. The magnitude of COVID-19's effect on the timely management of melanoma and nonmelanoma skin cancers. J Am Acad Dermatol 2021; 84:1100-3. 8 Public Health England. Help us, help you. Accessing NHS servicescancer. Available at: https://campaignresources.phe.gov.uk/re sources/campaigns/113-help-us/overview (last accessed 29 April 2021). Funding sources: none. Conflicts of interest: S.A., T.O.B., M.K. and G.W.M.M. are officers or employees of the British Association of Dermatologists.

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

“…In its American edition Granciasky's atlas has five ring-bound volumes with astounding, and uniquely beautiful, professional full-page photographs. Atlases such as these, or the more recent beautiful Atlas of Clinical Dermatology by DuVivier, 1…”

“…4 The early age of diagnosis and high frequency of MMR deficiency in our LS cSCCs adds weight to an association between LS and cSCC. 1 However, our dataset is limited by the small number of LS cSCCs submitted for MSI analysis. It should also be noted that tumour MMR deficiency alone does not prove a causative link between LS and cSCC as the presence of a heterozygous pathogenic variant in all LS patient cells makes a secondary breakdown in MMR more likely in any tumour.…”

“…6,7 Our findings are also consistent with the IHC results of Ykema et al However, only three of nine of their cSCCs were MSI-H despite 10 of 10 being MMRdeficient by IHC. 1 This difference in MSI results could be caused by our distinct sample sets or differing sensitivity of the two MSI analysis methods. 4 The early age of diagnosis and high frequency of MMR deficiency in our LS cSCCs adds weight to an association between LS and cSCC.…”

“…Peter Sowter, 1 Mauro Santibanez-Koref, 2 Michael S. Jackson, 2 Gillian M. Borthwick, 1 John Burn iD , 1 Neil Rajan iD 1,3 and Richard Gallon iD 1 1 Translational and Clinical Research Institute and 2 Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK; and 3 Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, UK Email: neil.rajan@newcastle.ac.uk…”

Microsatellite instability analysis using Promega panel in cutaneous squamous cell carcinoma

“…For example, Lynch syndrome, caused by a germline mutation in one of the MMR genes, is known to develop skin cancer including sebaceous carcinoma and cSCC. 4 However, we could not assess a normal tissue sample for one case with MSI-high as it was not available (#162, Figure 1c). Although the patient did not have a past history and was not part of a multiplex family with a malignant tumor, there remained an undeniable possibility of a germline mutation.…”