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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Cutaneous adnexal tumors[1-17]

Cutaneous adnexal tumors[1-17]
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
LOH: loss of heterozygosity.
References:
  1. Harms PW, Hovelson DH, Cani AK, et al. Porocarcinomas harbor recurrent HRAS-activating mutations and tumor suppressor inactivating mutations. Hum Pathol 2016; 51:25.
  2. Fehr A, Kovács A, Löning T, et al. The MYB-NFIB gene fusion-a novel genetic link between adenoid cystic carcinoma and dermal cylindroma. J Pathol 2011; 224:322.
  3. Shen AS, Peterhof E, Kind P, et al. Activating mutations in the RAS/mitogen-activated protein kinase signaling pathway in sporadic trichoblastoma and syringocystadenoma papilliferum. Hum Pathol 2015; 46:272.
  4. Pfarr N, Sinn HP, Klauschen F, et al. Mutations in genes encoding PI3K-AKT and MAPK signaling define anogenital papillary hidradenoma. Genes Chromosomes Cancer 2016; 55:113.
  5. Konstantinova AM, Vanecek T, Martinek P, et al. Molecular alterations in lesions of anogenital mammary-like glands and their mammary counterparts including hidradenoma papilliferum, intraductal papilloma, fibroadenoma and phyllodes tumor. Ann Diagn Pathol 2017; 28:12.
  6. Behboudi A, Winnes M, Gorunova L, et al. Clear cell hidradenoma of the skin-a third tumor type with a t(11;19)--associated TORC1-MAML2 gene fusion. Genes Chromosomes Cancer 2005; 43:202.
  7. Liau JY, Tsai JH, Huang WC, et al. BRAF and KRAS mutations in tubular apocrine adenoma and papillary eccrine adenoma of the skin. Hum Pathol 2018; 73:59.
  8. North JP, McCalmont TH, Fehr A, et al. Detection of MYB Alterations and Other Immunohistochemical Markers in Primary Cutaneous Adenoid Cystic Carcinoma. Am J Surg Pathol 2015; 39:1347.
  9. Sekine S, Kiyono T, Ryo E, et al. Recurrent YAP1-MAML2 and YAP1-NUTM1 fusions in poroma and porocarcinoma. J Clin Invest 2019; 130:3827.
  10. Nordmann TM, Messerli-Odermatt O, Meier L, et al. Sequential somatic mutations upon secondary anti-HER2 treatment resistance in metastatic ERBB2S310F mutated extramammary Paget's disease. Oncotarget 2019; 10:6647.
  11. Rashid M, van der Horst M, Mentzel T, et al. ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma. Nat Commun 2019; 10:2213.
  12. Bahrami A, Dalton JD, Krane JF, Fletcher CD. A subset of cutaneous and soft tissue mixed tumors are genetically linked to their salivary gland counterpart. Genes Chromosomes Cancer 2012; 51:140.
  13. Antonescu CR, Zhang L, Shao SY, et al. Frequent PLAG1 gene rearrangements in skin and soft tissue myoepithelioma with ductal differentiation. Genes Chromosomes Cancer 2013; 52:675.
  14. Surowy HM, Giesen AK, Otte J, et al. Gene expression profiling in aggressive digital papillary adenocarcinoma sheds light on the architecture of a rare sweat gland carcinoma. Br J Dermatol 2019; 180:1150.
  15. Kyrpychova L, Vanecek T, Grossmann P, et al. Small Subset of Adenoid Cystic Carcinoma of the Skin Is Associated With Alterations of the MYBL1 Gene Similar to Their Extracutaneous Counterparts. Am J Dermatopathol 2018; 40:721.
  16. Chan MP, Plouffe KR, Liu CJ, et al. Next-generation sequencing implicates oncogenic roles for p53 and JAK/STAT signaling in microcystic adnexal carcinomas. Mod Pathol 2019.
  17. North JP, Golovato J, Vaske CJ, et al. Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma. Nat Commun 2018; 9:1894.
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