A Novel Case of Gorlin Syndrome Mosaicism Involving an SMO Gene Mutation: Clinical, Histological and Molecular Analysis of Basaloid Tumours

Authors

  • Meriem Ighilahriz
  • Sergey Nikolaev
  • Andrey A. Yurchenko
  • Maxime Battistella
  • Samia Mourah
  • Fanélie Jouenne
  • Emanuelle Bourrat
  • Nicole Basset-Seguin Department of Dermatology, Hôpital Saint Louis, FR-75010 Paris, France

DOI:

https://doi.org/10.2340/00015555-3797

Keywords:

Gorlin, mosaicism, SMO gene

Abstract

Abstract is missing (Short communication)

Downloads

Download data is not yet available.

References

Gorlin RJ, Goltz RW. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. N Engl J Med 1960; 262: 908-912.

DOI: https://doi.org/10.1056/NEJM196005052621803

Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 1996; 85: 841-851.

DOI: https://doi.org/10.1016/S0092-8674(00)81268-4

Khamaysi Z, Bochner R, Indelman M, Magal L, Avitan-Hersh E, Sarig O, et al. Segmental basal cell naevus syndrome caused by an activating mutation in smoothened. Br J Dermatol 2016; 175: 178-181.

DOI: https://doi.org/10.1111/bjd.14425

Reifenberger J, Wolter M, Knobbe CB, Köhler B, Schönicke A, Scharwächter C, et al. Somatic mutations in the PTCH, SMOH, SUFUH and TP53 genes in sporadic basal cell carcinomas. Br J Dermatol 2005; 152: 43-51.

DOI: https://doi.org/10.1111/j.1365-2133.2005.06353.x

Jouenne F, Chevret S, Bugnet E, Clappier E, Lorillon G, Meignin V, et al. Genetic landscape of adult Langerhans cell histiocytosis with lung involvement. Eur Respir J 2020; 55: 1901190.

DOI: https://doi.org/10.1183/13993003.01190-2019

Bonilla X, Parmentier L, King B, Bezrukov F, Kaya G, Zoete V, et al. Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma. Nat Genet 2016; 48: 398-406.

DOI: https://doi.org/10.1038/ng.3525

Pickering CR, Zhou JH, Lee JJ, Drummond JA, Peng SA, Saade RE, et al. Mutational landscape of aggressive cutaneous squamous cell carcinoma. Clin Cancer Res Off J Am Assoc Cancer Res 2014; 20: 6582-6892.

DOI: https://doi.org/10.1158/1078-0432.CCR-14-1768

Veija T, Sarhadi VK, Koljonen V, Bohling T, Knuutila S. Hotspot mutations in polyomavirus positive and negative Merkel cell carcinomas. Cancer Genet 2016; 209: 30-35.

DOI: https://doi.org/10.1016/j.cancergen.2015.11.006

Dobin A, Davis CA, Schlesinger F, Drenkow J, Zaleski C, Jha S, et al. STAR: ultrafast universal RNA-seq aligner. Bioinforma Oxf Engl 2013; 29: 15-21.

DOI: https://doi.org/10.1093/bioinformatics/bts635

Anders S, Pyl PT, Huber W. HTSeq - a Python framework to work with high-throughput sequencing data. Bioinforma Oxf Engl 2015; 31: 166-169.

DOI: https://doi.org/10.1093/bioinformatics/btu638

Lovgren M-L, Zhou Y, Hr?ková G, Dallos T, Colmenero I, Twigg SRF, et al. Happle-Tinschert, Curry-Jones and segmental basal cell naevus syndromes, overlapping disorders caused by somatic mutations in hedgehog signalling genes: the mosaic hedgehog spectrum. Br J Dermatol 2020; 182: 212-217.

DOI: https://doi.org/10.1111/bjd.18150

Reinders MGHC, Boersma HJ, Leter EM, Vreeburg M, Paulussen ADC, Arits AHMM, et al. Postzygotic mosaicism in basal cell naevus syndrome. Br J Dermatol 2017; 177: 249-252.

DOI: https://doi.org/10.1111/bjd.15082

Sharpe HJ, Pau G, Dijkgraaf GJ, Basset-Seguin N, Modrusan Z, Januario T, et al. Genomic analysis of smoothened inhibitor resistance in basal cell carcinoma. Cancer Cell 2015; 27: 327-341.

DOI: https://doi.org/10.1016/j.ccell.2015.02.001

Grachtchouk V, Grachtchouk M, Lowe L, Johnson T, Wei L, Wang A, et al. The magnitude of hedgehog signaling activity defines skin tumor phenotype. EMBO J 2003; 22: 2741-2751.

DOI: https://doi.org/10.1093/emboj/cdg271

Downloads

Additional Files

Published

2021-04-22

How to Cite

Ighilahriz, M., Nikolaev, S., Yurchenko, A. A., Battistella, M., Mourah, S., Jouenne, F., Bourrat, E., & Basset-Seguin, N. (2021). A Novel Case of Gorlin Syndrome Mosaicism Involving an SMO Gene Mutation: Clinical, Histological and Molecular Analysis of Basaloid Tumours. Acta Dermato-Venereologica, 101(4), adv00434. https://doi.org/10.2340/00015555-3797

Issue

Vol. 101 No. 4 (2021): April

Section

Short Communication

Categories

License

Copyright (c) 2021 Meriem Ighilahriz, Sergey Nikolaev, Andrey A. Yurchenko, Maxime Battistella, Samia Mourah, Fanélie Jouenne, Emanuelle Bourrat, Nicole Basset-Seguin

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

All digitalized ActaDV contents is available freely online. The Society for Publication of Acta Dermato-Venereologica owns the copyright for all material published until volume 88 (2008) and as from volume 89 (2009) the journal has been published fully Open Access, meaning the authors retain copyright to their work.

Unless otherwise specified, all Open Access articles are published under CC-BY-NC licences, allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material for non-commercial purposes, provided proper attribution to the original work.

Crossref
Scopus
Google Scholar
Europe PMC