Cutaneous squamous cell carcinoma in a patient with Lynch syndrome

Alsukait, Sarah F; AlMohsen, Zaid; Alqarawi, Sohail; Alsaif, Fahad

doi:10.4103/ijdvl.ijdvl_412_19

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“…Moreover, there has been reports of patients with cSCC who had MLH1 mutation in their tumor on NGS but there was no consideration of genetic counseling or germline testing in those cases [9]. Another report described a patient with cSCC who had mutations in MSH2, MLH1 and PMS2 with history of LS but with a negative germline mutation testing [10]. Our report, combined with previous observations, suggest the importance of careful examination of patient's family history and high index of suspicion of hereditary cancer syndromes when patients present with cSCC without known risk factors, especially in young patients as this could be the initial presentation of hereditary diseases such as LS.…”

Section: Discussionmentioning

confidence: 99%

Metachronous cutaneous squamous cell carcinoma in a young patient as the only presenting symptom to uncover Lynch syndrome with MLH1 Germline mutation

Khaddour¹,

Fields

Ansstas

et al. 2020

Hered Cancer Clin Pract

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Background Cutaneous malignancies are rare complications of Lynch syndrome and can include Muir-Torre and Turcot syndromes that are associated with sebaceous gland tumors and keratoacanthomas. The incidence and clinical course of cutaneous squamous cell carcinoma have not been well documented in Lynch syndrome due to its rarity. Case presentation A 49-year male presented with an enlarging groin skin lesion that was biopsed and demonstrated cutaneous squamous cell carcinoma for which he underwent a surgical resection. The patient experienced later a recurrence of cutaneous squamous cell carcinoma around the resected margins. Next generation sequencing of tumor tissue revealed mutations in MSH6 and MLH1, in addition to high microsatellite instability. The patient underwent pembrolizumab treatment with complete resolution of the cutaneous lesion in the groin, but subsequently developed a new mass in the right antecubital fossa shortly after discontinuation of pembrolizumab. Repeat biopsy of the antecubital fossa lesion revealed a recurrence of cutaneous squamous cell carcinoma. Germline mutation testing revealed MLH1 mutation, compatible with Lynch syndrome, and the patient restarted pembrolizumab which was associated with a complete response. The patient was referred for genetic counseling and cancer screening. Conclusions Cutaneous squamous cell carcinoma, although rare, can be the initial presenting symptom in patients with Lynch syndrome. This association has been described in patients with germline mutations in MLH1. Lynch syndrome should be considered when evaluating young patients presenting with recurrent cutaneous squamous cell carcinoma with positive family history of malignancy and/ or without any identifiable risk factors for skin cancers, including those with a durable and rapid response to immunotherapy.

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Section: Discussionmentioning

confidence: 99%