Diagnostic Accuracy of GATA6 Immunostaining in Sebaceous Tumors of the Skin

Bénédicte Oulès; Lydia Deschamps; Pierre Sohier; Matthieu Tihy; Anaïs Chassac; Anne Couvelard; Eric Frouin; Maxime Battistella

doi:10.1016/j.modpat.2023.100101

Diagnostic Accuracy of GATA6 Immunostaining in Sebaceous Tumors of the Skin

Mod Pathol. 2023 Apr;36(4):100101. doi: 10.1016/j.modpat.2023.100101. Epub 2023 Jan 18.

Authors

Bénédicte Oulès¹, Lydia Deschamps², Pierre Sohier³, Matthieu Tihy⁴, Anaïs Chassac⁵, Anne Couvelard⁶, Eric Frouin⁷, Maxime Battistella⁸

Affiliations

¹ Cutaneous Biology Lab, Institut Cochin, INSERM U1016, UMR 8104, Paris, France; Department of Dermatology, Hôpital Cochin, AP-HP Centre-Université Paris Cité, Paris, France; Faculté de Médecine Paris Centre Santé, University Paris Cité, Paris, France.
² Department of Pathology, Hôpital Bichat, AP-HP Nord-Université Paris Cité, Paris, France; CARADERM, French Network of Rare Cutaneous Cancers, Lille, France.
³ Cutaneous Biology Lab, Institut Cochin, INSERM U1016, UMR 8104, Paris, France; Faculté de Médecine Paris Centre Santé, University Paris Cité, Paris, France; CARADERM, French Network of Rare Cutaneous Cancers, Lille, France; Department of Pathology, Hôpital Cochin, AP-HP Centre-Université Paris Cité, Paris, France.
⁴ Department of Pathology, Hôpitaux Universitaires Genève, Geneva, Switzerland.
⁵ Department of Pathology, Hôpital Bichat, AP-HP Nord-Université Paris Cité, Paris, France.
⁶ Faculté de Médecine Paris Centre Santé, University Paris Cité, Paris, France; Department of Pathology, Hôpital Bichat, AP-HP Nord-Université Paris Cité, Paris, France; Centre de Recherche sur l'Inflammation, INSERM UMR1149, Faculté de Médecine Bichat, Paris, France.
⁷ CARADERM, French Network of Rare Cutaneous Cancers, Lille, France; Department of Pathology, Centre Hospitalier Universitaire Poitiers, Poitiers, France.
⁸ Faculté de Médecine Paris Centre Santé, University Paris Cité, Paris, France; CARADERM, French Network of Rare Cutaneous Cancers, Lille, France; Department of Pathology, Hôpital Saint Louis, AP-HP Nord-Université Paris Cité, Paris, France; Onco-dermatology and Therapies Lab, Human Immunology, Pathophysiology, Immunotherapy, INSERM U976, Paris, France. Electronic address: maxime.battistella@aphp.fr.

PMID: 36788082
DOI: 10.1016/j.modpat.2023.100101

Abstract

The accurate diagnosis of skin adnexal neoplasms is sometimes challenging but is necessary because medical management and follow-up may differ between tumors. GATA6 transcription factor has been identified as a new marker of the upper folliculosebaceous compartment (lower infundibulum, junctional zone and isthmus, and upper sebaceous gland) in the human skin. We aimed to determine the diagnostic accuracy of GATA6 immunostaining to diagnose sebaceous tumors compared with that to diagnose other adnexal and nonadnexal cutaneous neoplasms. We conducted a retrospective, evaluator-nonblinded study comparing the reference standard (diagnosis by an expert dermatopathologist) with GATA6 immunostaining to identify sebaceous tumors in a cohort containing 234 different tumors. The GATA6 expression score was significatively higher in sebaceous than that in nonsebaceous tumors. In addition, tumors originating from the upper hair follicle showed positive results for GATA6 staining; however, they showed lower GATA6 expression scores. Detection of sebaceous tumors using GATA6 positivity had a sensitivity of 95.7% (95% CI, 85.8-99.2), specificity of 80.8% (95% CI, 74.5-85.8), positive predictive value of 55.6% (95% CI, 44.7-65.9), and negative predictive value of 98.7% (95% CI, 95.4-99.8). GATA6 showed similar sensitivity to adipophilin, the reference marker; however, the specificity of GATA6 was higher, as observed in a cohort of 106 tumors enriched in squamous cell carcinomas with clear-cell histology. In addition, GATA6 positivity was assessed in 39 sebaceous carcinomas and compared with epithelial membrane antigen (EMA), CK7, and androgen receptor (AR) staining results. Although CK7 staining displayed lower diagnostic performances, GATA6 staining showed comparable results as EMA and AR. Finally, we found GATA6 expression in skin metastases of gastrointestinal origin, whereas GATA6 was absent in metastases originating from breast or lung cancers. Overall, our work identified GATA6 immunostaining as a new diagnostic tool for sebaceous tumors.

Keywords: GATA6; adnexal skin tumor; follicular tumor; sebaceous tumor; skin carcinoma; sweat gland tumor.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

GATA6 Transcription Factor
Humans
Retrospective Studies
Sebaceous Gland Neoplasms* / diagnosis
Sebaceous Glands / metabolism
Sebaceous Glands / pathology
Skin / pathology
Skin Neoplasms* / pathology

Substances

GATA6 protein, human
GATA6 Transcription Factor