The Molecular Pathogenesis of Trichilemmal Carcinoma

Ha, Jaehyun; Lee, Cheol; Lee, Kyu Sang; Pak, Changsik John; Sun, Catherine Q.; Chang, Hak; Koh, Youngil

doi:10.21203/rs.3.rs-20232/v1

Cited by 1 publication

(1 citation statement)

References 18 publications

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“…NGS profiling of four trichilemmal carcinomas revealed frequent TP53 mutation, with variable additional alterations (Table 3). 40 With the exception of TP53 mutation, these mutations were substantially different from recurrent changes previously described for SCC 41 …”

Section: Tumours With Follicular Differentiationmentioning

confidence: 76%

Molecular pathology of skin adnexal tumours

2021

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Aims Tumours of the cutaneous adnexa arise from, or differentiate towards, structures in normal skin such as hair follicles, sweat ducts/glands, sebaceous glands or a combination of these elements. This class of neoplasms includes benign tumours and highly aggressive carcinomas. Adnexal tumours often present as solitary sporadic lesions, but can herald the presence of an inherited tumour syndrome such as Muir–Torre syndrome, Cowden syndrome or CYLD cutaneous syndrome. In contrast to squamous cell carcinoma and basal cell carcinoma, molecular changes in adnexal neoplasia have been poorly characterised and there are few published reviews on the current state of knowledge. Methods and results We reviewed findings in peer‐reviewed literature on molecular investigations of cutaneous adnexal tumours published to June 2021. Conclusions Recent discoveries have revealed diverse oncogenic drivers and tumour suppressor alterations in this class of tumours, implicating pathways including Ras/MAPK, PI3K, YAP/TAZ, beta‐catenin and nuclear factor kappa B (NF‐κB). These observations have identified novel markers, such as NUT for poroma and porocarcinoma and PLAG1 for mixed tumours. Here, we provide a comprehensive overview and update of the molecular findings associated with adnexal tumours of the skin.

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Section: Tumours With Follicular Differentiationmentioning

confidence: 76%