Sweat gland tumors (benign) | Derivation | Genetic abnormalities |
Poroma (classic poroma, hidroacanthoma simplex, dermal duct tumor) | Eccrine or apocrine | YAP1 fusion, HRAS mutation, LOH in APC |
Hidradenoma | Eccrine or apocrine | MAML2, CRCT1, CRTC3 fusions |
Hidradenoma papilliferum | Anogenital apocrine | PIK3CA and AKT1 mutation |
Spiradenoma/cylindroma | Eccrine or apocrine | CYLD mutation/LOH; t(6;9) MYB-NFIB, ALPK1 mutation (spiradenoma), DNMT3A mutation (cylindroma) |
Mixed tumor | Sweat duct ± follicular | PLAG1, EWSR1 fusions; HMGA2 fusions in salivary mixed tumors |
Myoepithelioma | Eccrine or apocrine | EWSR1, FUS fusions |
Syringofibroadenoma | Eccrine | |
Syringoma | Eccrine or apocrine | |
Syringocystadenoma papilliferum | Apocrine | RAS, BRAF mutation; 9p21 deletion; 9q22 LOH |
Tubular/papillary adenoma | Eccrine or apocrine | BRAF V600E, KRAS |
Sweat gland tumors (malignant) | Derivation | Genetic abnormalities |
Porocarcinoma | Eccrine or apocrine | YAP1, MAML2, NUTM1 fusions; EGFR, HRAS, TP53, RB1, ATM, ARID1A, CDKN2A, PIK3CA mutations |
(Aggressive) digital papillary adenocarcinoma | Eccrine or apocrine | BRAF mutation, FGFR2 overexpression |
Adenoid cystic carcinoma | Eccrine or apocrine | t(6;9) MYB-NFIB, MYBL1 rearrangements |
Apocrine adenocarcinoma | Apocrine | |
Syringomatous carcinoma | Eccrine or apocrine | |
Hidradenocarcinoma | Eccrine or apocrine | MAML2 fusion; TP53 mutation |
Malignant mixed tumor | Eccrine or apocrine | PHF1-TFE3 fusion (1 case) |
Cylindrocarcinoma/spiradenocarcinoma | Eccrine or apocrine | CYLD mutation/LOH, ALPK1 mutation, TP53 mutation |
Endocrine mucin-producing sweat gland carcinoma/mucinous carcinoma | Eccrine or apocrine | |
Microcystic adnexal carcinoma | Sweat duct and follicular | TP53, JAK1 mutations |
Extramammary Paget disease | Multiple possibilities | PIK3CA mutation; Chr 19 and X amplification; 10q loss; ERBB2 mutation |
Cutaneous (mammary analog) secretory carcinoma | Apocrine (possibly eccrine) | ETV6-NTRK3 fusion |
Cutaneous cribriform carcinoma | Apocrine | |
Follicular and sebaceous tumors (benign) | Derivation | Genetic abnormalities |
Trichoblastoma/trichoepithelioma | Follicular | CTNNB1, CYLD, and PTCH1 mutation |
Trichofolliculoma | Follicular | |
Panfolliculoma | Follicular | |
Proliferating follicular-cystic acanthoma (proliferating pilar tumor) | Follicular (outer root sheath) | PIK3CA and ALPK1 mutation |
Trichilemmoma | Follicular (outer root sheath) | HRAS, PTEN mutation |
Trichoadenoma | Follicular (infundibulum) | |
Tumor of the follicular infundibulum | Follicular (isthmus) | |
Pilar sheath acanthoma | Follicular (isthmus/infundibulum) | |
Pilomatricoma | Follicular (matrix) | CTNNB1 mutation; PLCD1 (familial pilomatricoma); trisomy 18 |
Sebaceous adenoma | Sebaceous gland | LEF1, MLH1, MSH2, MSH6, MUTYH, RAS, TP53, CDKN2A, EGFR, FAT2, CACNA1S, KMT2D, and CTNNB1 mutation |
Sebaceoma | Sebaceous gland | LEF1, MLH1, MSH2, MSH6 mutation |
Fibrofolliculoma/trichodiscoma | Sebaceous mantle | FLCN mutation |
Follicular and sebaceous tumors (malignant) | Derivation | Genetic abnormalities |
Trichoblastic carcinoma | Follicular | TP53, CDKN2A mutation |
Trichilemmal carcinoma | Follicular (outer root sheath) | FGFR3 and ROS1 fusions); TP53, NF1, NRAS mutation; TOP1 amplification and PTEN deletion |
Pilomatrix (matrical) carcinoma | Follicular (matrix) | CTNNB1 mutation |
Sebaceous carcinoma | Sebaceous | ZNF750, TP53, RREB1, RAS, NOTCH, FAT3, KMT2D, LEF1, MLH1, MSH2, MSH6, MUTYH mutation |
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