Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors
Résumé
Cutaneous sweat gland tumors are a subset of adnexal neoplasms that derive or differentiate into the sweat apparatus. Their great diversity, rarity, and complex terminology make their pathological diagnosis challenging. Recent findings have revealed a wide spectrum of oncogenic drivers, several of which are of diagnostic interest for pathologists. Most of these molecular alterations are represented by gene fusions, which are shared with other homologous neoplasms occurring in organs containing exocrine glands, such as salivary and breast glands, which show similarities to the sweat apparatus. This review aims to provide a synthesis of the most recent immunohistochemical and molecular markers used for the diagnosis of sweat gland tumors and to highlight their relationship with similar tumors in other organs. It will cover adenoid cystic carcinoma (NFIB, MYB, and MYBL1 fusion), cutaneous mixed tumor (PLAG1 fusion), cylindroma and spiradenoma and their carcinomas thereof (NF-κB activation through CYLD inactivation or ALKP1 hotspot mutation), hidradenoma and hidradenocarcinoma (MAML2 fusion), myoepithelioma (EWSR1 and FUS fusion), poroma and porocarcinoma (YAP1, MAML2, and NUTM1 fusion), secretory carcinoma (ETV6, NTRK3 fusion), tubular adenoma and syringo-cystadenoma papilliferum (HRAS and BRAF activating mutations). Sweat gland tumors for which there are no known molecular abnormalities will also be briefly discussed, as well as potential future developments.
Mots clés
adenoid cystic carcinoma
NFIB
MYB
MYBL1
mixed tumor
chondroid syringoma
PLAG1
cylindroma
spiradenoma
CYLD
ALKP1
hidradenoma
MAML2
myoepithelioma
EWSR1
FUS
poroma
porocarcinoma
poroid hidradenoma
YAP1
NUTM1
secretory carcinoma
ETV6
NTRK3
tubular adenoma
syringocystadenoma papilliferum
HRAS
BRAF
Macagno
N.
Sohier
P.
Kervarrec
T.
Pissaloux
D.
Jullie
M.-L.
Cribier
B.
Battistella
M adenoid cystic carcinoma
Domaines
Cancer| Origine | Publication financée par une institution |
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