Recurrent GRHL fusions in a subset of sebaceoma: microscopic and molecular characterisation of eight cases DOI Creative Commons
Mélanie Legrand, Baptiste Louveau, Nicolas Macagno

et al.

Histopathology, Journal Year: 2024, Volume and Issue: unknown

Published: Nov. 20, 2024

Aims Sebaceous neoplasms constitute a group of adnexal tumours, including sebaceous adenoma, sebaceoma and carcinoma. Although mismatch repair deficiency may be observed, the nature genetic alterations contributing to development most these tumours is still unknown. In present study, we describe clinical, microscopic, molecular features eight sebaceomas with GRHL gene rearrangement. Methods results Among sebaceomas, four occurred in women men; median age was 63 years (range = 29–89). The were located head neck area all cases. Microscopic examination revealed well‐demarcated lesion dermis focal extension into subcutaneous tissue (three cases). displayed macronodular (eight cases), cribriform (seven cases) organoid (six growth patterns, occurring combination. mainly composed immature basophilic cells associated scattered mature sebocytes. Numerous small infundibular cysts seven Mitotic activity low (none/one mitoses/mm 2 ). Immunohistochemistry showed positivity for androgen receptor p63. Preserved expression MLH1, PMS2, MSH2 MSH6 observed RNA‐sequencing RCOR1 :: GRHL2 BCL6::GRHL1 (two BCOR (one case), GRHL1 case) TLE1::GRHL1 fusion transcript. Methylation analysis demonstrated that ‐fused form an independent cluster highlight proximity such poromas folliculo‐sebaceous differentiation. Conclusions conclusion, report recurrent fusions genes distinctive subset harbouring infundibulocystic differentiation, frequent pattern lack deficiency.

Language: Английский

Primary cutaneous NUT adnexal carcinoma: morphologic, genetic and methylation analysis of seven new cases with comparison to extracutaneous NUT carcinoma and NUTM1‐rearranged porocarcinoma DOI Creative Commons
Mélanie Legrand, Baptiste Louveau,

Amélie Osio

et al.

Histopathology, Journal Year: 2025, Volume and Issue: unknown

Published: March 24, 2025

NUT carcinoma is a rare malignant neoplasm characterised by recurrent NUTM1 rearrangements, initially reported in the midline. Recently, 10 cases of cutaneous with adnexal differentiation harbouring BRD3::NUTM1, NSD3::NUTM1, BRD4::NUTM1 or BRD3::NUTM2B fusions have been reported. Accordingly, 'NUT carcinoma' (NAC) has introduced as provisional tumour entity to fifth edition WHO Classification Skin Tumours. We report histopathological, molecular genetic and epigenetic features seven additional NAC. The cohort consisted four female three male patients median age 58 years. Follow-up was available for six cases, documented diffuse metastatic spreading leading death at 18 months after diagnosis one case. Histopathological examination all revealed dermal/subcutaneous neoplasms composed poorly differentiated cells large irregular vesicular nuclei least focally prominent nucleoli. All showed areas duct/gland formation. Using immunohistochemistry, tumours expression co-expression SOX10 five cases. P63 P40 were diffusely positive case confined periphery nests Molecular analysis (n = 3), BRD3::NUTM1 3) NSD3::NUTM1 1). Although being close this latter group, methylation transcriptional that NAC formed unique cluster distinct from extracutaneous NUTM1-rearranged porocarcinoma. Our results further support existence primary suggest it may represent an carcinoma.

Language: Английский

Citations

0
ACTB::ZMIZ2-rearranged adnexal carcinoma: a second case DOI
Carina Dehner, Daniel Pissaloux,

Brice Thamphya

et al.

Virchows Archiv, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 23, 2025

Language: Английский

Citations

0
Trichogerminoma with malignant transformation DOI
Thibault Kervarrec,

Maxence Mancini,

Anne Tallet

et al.

Virchows Archiv, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 24, 2025

Language: Английский

Citations

0
Gene Fusion-Driven Cutaneous Adnexal Neoplasms: An Updated Review Emphasizing Molecular Characteristics DOI
Gerardo Cazzato, Maged Daruish, Francesco Fortarezza

et al.

American Journal of Dermatopathology, Journal Year: 2025, Volume and Issue: unknown

Published: Feb. 6, 2025

Abstract: Gene rearrangements or fusions have emerged as critical oncogenic drivers in various cutaneous adnexal neoplasms. This review offers a comprehensive overview of both established and recently identified molecular alterations, with specific focus on gene fusions. Key alterations discussed include YAP1 rearrangements, CRTC1::MAML2 fusions, BRD3 MYB::NFIB ETV6::NTRK3 PLAG1 alongside rarer fusion transcripts, such MEF2C::SS18 , FOXK1::GRHL1/2 GPS2::GRHL RARA::NPEPPS . The article highlights the significance these genetic changes tumor biology their potential therapeutic implications for locally advanced metastatic skin tumors. It also addresses diagnostic challenges distinctions, providing updated insights into tumors driven by

Language: Английский

Citations

0
YAP1‐NUTM1 fusions are infrequent in porocarcinomas arising in a cohort including immunocompromised patients DOI
Mark D. Eisner, R.T. Winn,

T. Oliphant

et al.

Journal of the European Academy of Dermatology and Venereology, Journal Year: 2025, Volume and Issue: unknown

Published: April 2, 2025

Language: Английский

Citations

0
YAP1::NR4A3 and YAP1::NCOA2 fusions in poroma: expanding the spectrum of molecular alterations in poroid tumors DOI
Léo‐Paul Secco, Louis Libbrecht,

Michiel Bonny

et al.

Virchows Archiv, Journal Year: 2024, Volume and Issue: 485(4), P. 749 - 753

Published: Aug. 23, 2024

Language: Английский

Citations

1
Il ne faut pas avoir peur des carcinomes annexiels ! DOI
B. Cribier

Annales de Dermatologie et de Vénéréologie - FMC, Journal Year: 2024, Volume and Issue: 4(5), P. 307 - 308

Published: June 19, 2024

Citations

0
Recurrent GRHL fusions in a subset of sebaceoma: microscopic and molecular characterisation of eight cases DOI Creative Commons
Mélanie Legrand, Baptiste Louveau, Nicolas Macagno

et al.

Histopathology, Journal Year: 2024, Volume and Issue: unknown

Published: Nov. 20, 2024

Aims Sebaceous neoplasms constitute a group of adnexal tumours, including sebaceous adenoma, sebaceoma and carcinoma. Although mismatch repair deficiency may be observed, the nature genetic alterations contributing to development most these tumours is still unknown. In present study, we describe clinical, microscopic, molecular features eight sebaceomas with GRHL gene rearrangement. Methods results Among sebaceomas, four occurred in women men; median age was 63 years (range = 29–89). The were located head neck area all cases. Microscopic examination revealed well‐demarcated lesion dermis focal extension into subcutaneous tissue (three cases). displayed macronodular (eight cases), cribriform (seven cases) organoid (six growth patterns, occurring combination. mainly composed immature basophilic cells associated scattered mature sebocytes. Numerous small infundibular cysts seven Mitotic activity low (none/one mitoses/mm 2 ). Immunohistochemistry showed positivity for androgen receptor p63. Preserved expression MLH1, PMS2, MSH2 MSH6 observed RNA‐sequencing RCOR1 :: GRHL2 BCL6::GRHL1 (two BCOR (one case), GRHL1 case) TLE1::GRHL1 fusion transcript. Methylation analysis demonstrated that ‐fused form an independent cluster highlight proximity such poromas folliculo‐sebaceous differentiation. Conclusions conclusion, report recurrent fusions genes distinctive subset harbouring infundibulocystic differentiation, frequent pattern lack deficiency.

Language: Английский

Citations

0