Mutations in genes encoding PI3K-AKT and MAPK signaling define anogenital papillary hidradenoma

Genes Chromosomes and Cancer

Volumn 55, Issue 2, 2016, Pages 113-119

  Pfarr, Nicole ^a   Sinn, Hans Peter ^b   Klauschen, Frederick ^c   Flechtenmacher, Christa ^b   Bockmayr, Michael ^c   Ridinger, Kathrin ^b   von Winterfeld, Moritz ^c   Warth, Arne ^b   Lorenz, Katja ^b   Budczies, Jan ^c   Penzel, Roland ^b   Lennerz, Jochen K ^d   Endris, Volker ^b   Weichert, Wilko ^a,b,e   Stenzinger, Albrecht ^b,e,f  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^f National Center of Tumor Diseases Heidelberg School of Oncology (NCT HSO)   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

APC PROTEIN; B RAF KINASE; DNA; EPIDERMAL GROWTH FACTOR RECEPTOR 4; MITOGEN ACTIVATED PROTEIN KINASE; PHOSPHATIDYLINOSITOL 3 KINASE; PIK3CA PROTEIN; PROTEIN KINASE B; PROTEIN KINASE LKB1; UNCLASSIFIED DRUG; AKT1 PROTEIN, HUMAN; PIK3CA PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE; STK11 PROTEIN, HUMAN;

ADULT; AGED; ANOGENITAL PAPILLARY HIDRADENOMA; ANUS TUMOR; ARTICLE; CARCINOGENESIS; CLINICAL ARTICLE; DNA EXTRACTION; GENE MUTATION; HIDRADENOMA; HUMAN; HUMAN TISSUE; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; UROGENITAL TRACT TUMOR; VIRUS DETECTION; VULVA TUMOR; WART VIRUS; FEMALE; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PROCEDURES;

ACROSPIROMA; ADULT; AGED; ANUS NEOPLASMS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MAP KINASE SIGNALING SYSTEM; MIDDLE AGED; MUTATION; PHOSPHATIDYLINOSITOL 3-KINASES; PROTEIN-SERINE-THREONINE KINASES; PROTO-ONCOGENE PROTEINS B-RAF; PROTO-ONCOGENE PROTEINS C-AKT; VULVAR NEOPLASMS;

EID: 84954391202     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.22315     Document Type: Article

References (33)

1. Bannatyne P, Elliott P, Russell P. 1989. Vulvar adenosquamous carcinoma arising in a hidradenoma papilliferum, with rapidly fatal outcome: Case report. Gynecol Oncol 35:395-398.
2. Baker GM, Selim MA, Hoang MP. 2013. Vulvar adnexal lesions: A 32-year, single-institution review from Massachusetts General Hospital. Arch Pathol Lab Med 137:1237-1246.
3. Budczies J, Bockmayr M, Denkert C, Klauschen F, Lennerz JK, Györffy B, Dietel M, Loibl S, Weichert W, Stenzinger A. Classical pathology and mutational load of breast cancer-Integration of two worlds. J Pathol Clin Res (in press). DOI: 10.1002/cjp2.25
4. Eckert F, de Viragh PA, Schmid U. 1994. Coexpression of cytokeratin and vimentin intermediate filaments in benign and malignant sweat gland tumors. J Cutan Pathol 21:140-150.
5. Endris V, Penzel R, Warth A, Muckenhuber A, Schirmacher P, Stenzinger A, Weichert W. 2013. Molecular diagnostic profiling of lung cancer specimens with a semiconductor-based massive parallel sequencing approach: feasibility, costs, and performance compared with conventional sequencing. J Mol Diagn 15:765-775.
6. Forbes SA, Beare D, Gunasekaran P, Leung K, Bindal N, Boutselakis H, Ding M, Bamford S, Cole C, Ward S, Kok CY, Jia M, De T, Teague JW, Stratton MR, McDermott U, Campbell PJ. 2015. COSMIC: Exploring the world's knowledge of somatic mutations in human cancer. Nucleic Acids Res D805-D811.
7. Fruman DA, Rommel C. 2014. PI3K and cancer: Lessons, challenges and opportunities. Nat Rev Drug Discov 13:140-156.
8. Hyman DM, Puzanov I, Subbiah V, Faris JE, Chau I, Blay JY, Wolf J, Raje NS, Diamond EL, Hollebecque A, Gervais R, Elez-Fernandez ME, Italiano A, Hofheinz RD, Hidalgo M, Chan E, Schuler M, Lasserre SF, Makrutzki M, Sirzen F, Veronese ML, Tabernero J, Baselga J. 2015. Vemurafenib in multiple nonmelanoma cancers with BRAF V600 mutations. N Engl J Med 373:726-736. doi: 10.1056/NEJMoa1502309.
9. Kazakov DV, Mikyskova I, Kutzner H, Simpson RH, Hes O, Mukensnabl P, Bouda J, Zamecnik M, Kinkor Z, Michal M. 2005. Hidradenoma papilliferum with oxyphilic metaplasia: A clinicopathological study of 18 cases, including detection of human papillomavirus. Am J Dermatopathol 27:102-110.
10. Kazakov DV, Spagnolo DV, Kacerovska D, Michal M. 2011. Lesions of anogenital mammary-like glands: An update. Adv Anat Pathol 18:1-28.
11. Klauschen F, Heim D, Stenzinger A. 2015. Histological tumor typing in the age of molecular profiling. Pathol Res Pract (in press).
12. Kurman RJ, Carcangiu ML, Herrington CS, Young RH (Eds.). 2014. WHO Classification of Tumours of Female Reproductive Organs, IARC, Lyon
13. Mahalingam M, Srivastava A, Hoang MP. 2010. Expression of stem-cell markers (cytokeratin 15 and nestin) in primary adnexal neoplasms-clues to etiopathogenesis. Am J Dermatopathol 32:774-779.
14. Marino-Enriquez A, Fletcher CDM. 2014. Shouldn't we care about the biology of benign tumours? Nat Rev Cancer 14:701-702.
15. Nishida H, Daa T, Kashima K, Arakane M, Urabe S, Yoshikawa Y, Gamachi A, Yokoyama S. 2015. KIT (CD117) expression in benign and malignant sweat gland tumors. Am J Dermatopathol (in press).
16. Offidani A, Campanati A. 1999. Papillary hidradenoma: Immunohistochemical analysis of steroid receptor profile with a focus on apocrine differentiation. J Clin Pathol 52:829-832.
17. Pelosi G, Martignoni G, Bonetti F. 1991. Intraductal carcinoma of mammary-type apocrine epithelium arising within a papillary hidradenoma of the vulva. Report of a case and review of the literature. Arch Pathol Lab Med. 115:1249-1254.
18. Pfarr N, Kriegsmann M, Sinn P, Klauschen F, Endris V, Herpel E, Muckenhuber A, Jesinghaus M, Klosterhalfen B, Penzel R, Lennerz JK, Weichert W, Stenzinger A. 2015. Distribution of MED12 mutations in fibroadenomas and phyllodes tumors of the breast-implications for tumor biology and pathological diagnosis. Genes Chromosomes Cancer. 54:444-452.
19. Plumb SJ, Argenyi ZB, Stone MS, De Young BR. 2004. Cytokeratin 5/6 immunostaining in cutaneous adnexal neoplasms and metastatic adenocarcinoma. Am J Dermatopathol 26:447-451.
20. Requena L, Kiryu H, Ackerman AB. 1998. Neoplasms With Apocrine Differentiation. Lippincott-Raven, Philadelphia.
21. Scurry J, van der Putte SC, Pyman J, Chetty N, Szabo R. 2009. Mammary-like gland adenoma of the vulva: Review of 46 cases. Pathology. 41:372-378.
22. Shah SS, Adelson M, Mazur MT. 2008. Adenocarcinoma in situ arising in vulvar papillary hidradenoma: Report of 2 cases. Int J Gynecol Pathol 27:453-456.
23. Simpson WA, Burke M, Frappell J, Cook MG. 1988. Paget's disease, melanocytic neoplasia and hidradenoma papilliferum of the vulva. Histopathology 12:675-679.
24. Sotlar K, Diemer D, Dethleffs A, Hack Y, Stubner A, Vollmer N, Menton S, Menton M, Dietz K, Wallwiener D, Kandolf R, Bültmann B. 2004. detection and typing of human papillomavirus by E6 nested multiplex PCR. J Clin Microbiol 42:3176-3184.
25. Spring KJ, Zhao ZZ, Karamatic R, Walsh MD, Whitehall VL, Pike T, Simms LA, Young J, James M, Montgomery GW, Appleyard M, Hewett D, Togashi K, Jass JR, Leggett BA. 2006. High prevalence of sessile serrated adenomas with BRAF mutations: A prospective study of patients undergoing colonoscopy. Gastroenterology 131:1400-1407.
26. Stefanato CM, Finn R, Bhawan J. 2000. Extramammary Paget disease with underlying hidradenoma papilliferum: Guilt by association? Am J Dermatopathol 22:439-442.
27. Stenzinger A, Endris V, Pfarr N, Andrulis M, Jöhrens K, Klauschen F, Siebolts U, Wolf T, Koch PS, Schulz M, Hartschuh W, Goerdt S, Lennerz JK, Wickenhauser C, Klapper W, Anagnostopoulos I, Weichert W. 2014a. Targeted ultra-deep sequencing reveals recurrent and mutually exclusive mutations of cancer genes in blastic plasmacytoid dendritic cell neoplasm. Oncotarget 5:6404-6413.
28. Stenzinger A, Pfarr N, Endris V, Penzel R, Jansen L, Wolf T, Herpel E, Warth A, Klauschen F, Kloor M, Roth W, Bläker H, Chang-Claude J, Brenner H, Hoffmeister M, Weichert W. 2014b. Mutations in POLE and survival of colorectal cancer patients-Link to disease stage and treatment. Cancer Med 3:1527-1538.
29. Stenzinger A, Weichert W, Lennerz JK, Klauschen F. 2015. Basket trials: Just the end of the first quarter. J Clin Oncol 33:2823-2824.
30. Swanson PE, Mazoujian G, Mills SE, Campbell RJ, Wick MR. 1991. Immunoreactivity for estrogen receptor protein in sweat gland tumors. Am J Surg Pathol 15:835-841.
31. van der Putte SC. 1991. Anogenital "sweat" glands. Histology and pathology of a gland that may mimic mammary glands. Am J Dermatopathol 13:557-567.
32. van der Putte SC. 1994. Mammary-like glands of the vulva and their disorders. Int J Gynecol Pathol 13:150-160.
33. Woodworth H, Dockerty MB, Wilson MB, Pratt JH. 1971. Papillary hidradenoma of the vulva: A clinicopathologic study of 69 cases. Am J Obstet Gynecol 110:501-508.