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Publications

Journal Article Ppublish

PubMed: 39455322 DOI: 10.1016/j.pathol.2024.06.013

Re-evaluation of the concept of basaloid follicular hamartoma associated with naevoid basal cell carcinoma syndrome: a morphological, immunohistochemical and molecular study.

Pathology 57(1):49-56

Authors: Simon Barbieux, Fanélie Jouenne, Marie-Christine Machet, Sylvie Fraitag, Nicolas Macagno, Maxime Battistella, Bernard Cribier, Pierre Sohier, Sara Laurent-Roussel, Agnès Carlotti, Fanny Beltzung, Marie-Laure Jullié, Isabelle Moulonguet, Nicole Basset-Seguin, Lydia Deschamps, Samia Mourah, Mahtab Samimi, Serge Guyétant, Thibault Kervarrec

Affiliations

  • Department of Pathology, Université de Tours, Centre Hospitalier Universitaire de Tours, Tours, France; Platform of Somatic Tumor Molecular Genetics, Université de Tours, Centre Hospitalier Universitaire de Tours, Tours, France.
  • Department of Tumors Genomics and Pharmacology, Hôpital Saint-Louis, AP-HP, Paris, France.
  • Department of Pathology, Université de Tours, Centre Hospitalier Universitaire de Tours, Tours, France.
  • Department of Pathology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
  • Department of Pathology, Centre Hospitalier de la Timone, Assistance Publique-Hôpitaux de Marseille, Marseille, France; CARADERM Network, France.
  • CARADERM Network, France; Department of Pathology, Hôpital Saint-Louis, AP-HP, Paris, France.
  • CARADERM Network, France; Department of Dermatology, Hôpitaux Universitaires et Université de Strasbourg, Strasbourg, France.
  • CARADERM Network, France; Department of Pathology, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, Paris, France.
  • CARADERM Network, France; Department of Pathology, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, Paris, France; National Center of Dermatopathology - La Roquette, Paris, France.
  • Department of Pathology, Hôpital Cochin, AP-HP, Centre-Université Paris Cité, Paris, France.
  • Department of Pathology, Hôpital Haut-Lévêque, CHU de Bordeaux, Pessac, France.
  • CARADERM Network, France; Department of Pathology, Hôpital Haut-Lévêque, CHU de Bordeaux, Pessac, France.
  • Department of Pathology, Hôpital Saint-Louis, AP-HP, Paris, France.
  • CARADERM Network, France; Department of Dermatology, Hôpital Saint-Louis, AP-HP, Paris, France.
  • CARADERM Network, France; Department of Pathology, Hôpital Bichat, AP-HP, Paris, France.
  • CARADERM Network, France; Department of Dermatology, Université de Tours, Centre Hospitalier Universitaire de Tours, Tours, France; 'Biologie des infections à polyomavirus' Team, UMR INRA ISP 1282, Université de Tours, Tours, France.
  • Department of Pathology, Université de Tours, Centre Hospitalier Universitaire de Tours, Tours, France; Platform of Somatic Tumor Molecular Genetics, Université de Tours, Centre Hospitalier Universitaire de Tours, Tours, France; 'Biologie des infections à polyomavirus' Team, UMR INRA ISP 1282, Université de Tours, Tours, France.
  • Department of Pathology, Université de Tours, Centre Hospitalier Universitaire de Tours, Tours, France; CARADERM Network, France; 'Biologie des infections à polyomavirus' Team, UMR INRA ISP 1282, Université de Tours, Tours, France.

Abstract

Naevoid basal cell carcinoma syndrome (NBCCS) is a rare genodermatosis caused by germline mutations in genes of the Sonic Hedgehog (SHH) pathway and is characterised by early onset of multiple basal cell carcinomas (BCCs). Although skin tumours with follicular differentiation, notably basaloid follicular hamartoma (BFH), have been reported in NBCCS, their relations with BCC are poorly defined. In this context, the aim of this study was to clarify morphological, immunohistochemical ​and molecular features of BFH arising in a context of NBCCS. A total of 140 skin tumours from NBCCS and 140 control BCC tumours were reviewed, blinded to clinical data and classified as BCC or BFH. The morphological characteristics of these two groups were then compared. Twenty cases were submitted for immunohistochemical and molecular analysis. Thirty-three tumours among the exploratory cohort were classified as BFH and were exclusively detected in NBCCS patients. Histopathological criteria that were significantly different from BCC were as follows: a small size (<1.5 mm), connection to a hair follicle, arborescent organoid architecture, lack of cytological atypia and infundibulocystic differentiation. Immunohistochemical analysis confirmed activation of the SHH pathway in these lesions. Targeted next-generation sequencing suggested that MYCN and GLI2/3 amplifications and TP53 mutations might be involved in progression of these follicular tumours to BCC. Our study confirms the high prevalence of BFH, representing up to 24% of skin tumours in NBCCS and potentially being BCC precursors.

MeSH

Skin, Cells, Pathology, Mutation, Carcinoma, Basal Cell, Hamartoma