The Genetic Landscape of Fibroepithelial Lesions of the Breast.
Journal
Advances in anatomic pathology
ISSN: 1533-4031
Titre abrégé: Adv Anat Pathol
Pays: United States
ID NLM: 9435676
Informations de publication
Date de publication:
01 11 2023
01 11 2023
Historique:
pubmed:
4
8
2023
medline:
4
8
2023
entrez:
4
8
2023
Statut:
ppublish
Résumé
Fibroepithelial lesions of the breast encompass a broad spectrum of lesions from fibroadenomas and their variants to phyllodes tumors, including their clinical range of benign, borderline, and malignant. Classification of this spectrum of neoplasms has historically and currently been based purely on morphology, although the nomenclature has shifted over the years largely due to the significant histologic overlap that exists primarily within the cellular fibroadenomas to borderline malignant phyllodes tumor categories. A review of the current diagnostic challenge, proposed ancillary studied and their value in prognostic significance, is provided. This article highlights the most recent molecular and genetic findings as well as the limitations of the studies, in the context of practical and available applications for the diagnostician and managerial implications for the clinician.
Identifiants
pubmed: 37539688
doi: 10.1097/PAP.0000000000000407
pii: 00125480-202311000-00008
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
415-420Informations de copyright
Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.
Déclaration de conflit d'intérêts
The authors have no funding or conflicts of interest to declare.
Références
Huo L, Gilcrease MZ. Fibroepithelial lesions of the breast with pleomorphic stromal giant cells: a clinicopathologic study of 4 cases and review of the literature. Ann Diagn Pathol. 2009;13:226–232.
Tsang AKH, Chan SK, Lam CCF, et al. Phyllodes tumours of the breast—differentiating features in core needle biopsy. Histopathology. 2011;59:600–608.
Rakha EA, Ahmed MA, Aleskandarany MA, et al. Diagnostic concordance of breast pathologists: lessons from the National Health Service Breast Screening Programme Pathology External Quality Assurance Scheme. Histopathology. 2017;70:632–642.
Khazai L, Middleton LP, Goktepe N, et al. Breast pathology second review identifies clinically significant discrepancies in over 10% of patients. J Surg Oncol. 2015;111:192–197.
WHO Classification of Tumours Editorial Board. The 2019 World Health Organization Classification of Tumours of the Breast, vol. 2. World Health Organization; 2019.
Rivero LF, Graudenz MS, Aschton-Prolla P, et al. Accuracy of p53 and ki-67 in the graduation of phyllodes tumor, a model for practical application. Surg Exp Pathol. 2020;3:7.
Wang Y, Zhu J, Gou J, et al. Phyllodes tumors of the breast in 2 sisters: case report and review of literature. Medicine. 2017;96:e8552.
Kočová L, Skálová A, Fakan F, et al. Phyllodes tumour of the breast: immunohistochemical study of 37 tumours using MIB1 antibody. Pathol Res Pract. 1998;194:97–104.
Mishra SP, Tiwary SK, Mishra M, et al. Phyllodes tumor of breast: a review article. ISRN Surg. 2013;2013:361469.
Mon KS, Tang P. Fibroepithelial lesions of the breast: update on molecular profile with focus on pediatric population. Arch Pathol Lab Med. 2023;147:38–45.
Yang X, Kandil D, Cosar EF, et al. Fibroepithelial tumors of the breast: pathologic and immunohistochemical features and molecular mechanisms. Arch Pathol Lab Med. 2014;138:25–36.
El-Wakeel H, Umpleby HC. Systematic review of fibroadenoma as a risk factor for breast cancer. Breast. 2003;12:302–307.
Foster ME, Garrahan N, Williams S. Fibroadenoma of the breast: a clinical and pathological study. J R Coll Surg Edinb. 1988;33:16–19.
Yohe S, Yeh I-T. ‘Missed’ diagnoses of phyllodes tumor on breast biopsy: pathologic clues to its recognition. Int J Surg Pathol. 2008;16:137–142.
Yasir S, Gamez R, Jenkins S, et al. Significant histologic features differentiating cellular fibroadenoma from phyllodes tumor on core needle biopsy specimens. Am J Clin Pathol. 2014;142:362–369.
Salvadori B, Cusumano F, Bo RD, et al. Surgical treatment of phyllodes tumors of the breast. Cancer. 1989;63:2532–2536.
Cheema HS, Mehta R, Slanetz PJ. Imaging and management of fibroepithelial breast lesions on percutaneous core needle biopsy. Breast J. 2020;26:1216–1220.
Tan BY, Acs G, Apple SK, et al. Phyllodes tumours of the breast: a consensus review. Histopathology. 2016;68:5–21.
Oprić D, Granić M, Pupić G, et al. [Morphological characteristics of the phyllodes tumours of the breast]. Med Arh. 2004;58:220–222.
Niezabitowski A, Lackowska B, Rys J, et al. Prognostic evaluation of proliferative activity and DNA content in the phyllodes tumor of the breast: immunohistochemical and flow cytometric study of 118 cases. Breast Cancer Res Treat. 2001;65:77–85.
Chan Y-J, Chen B-F, Chang C-L, et al. Expression of p53 protein and Ki-67 antigen in phyllodes tumor of the breast. J Chin Med Assoc. 2004;67:3–8.
Jara-Lazaro AR, Akhilesh M, Thike AA, et al. Predictors of phyllodes tumours on core biopsy specimens of fibroepithelial neoplasms. Histopathology. 2010;57:220–232.
Umekita Y, Yoshida H. Immunohistochemical study of MIB1 expression in phyllodes tumor and fibroadenoma. Pathol Int. 1999;49:807–810.
Yonemori K, Hasegawa T, Shimizu C, et al. Correlation of p53 and MIB-1 expression with both the systemic recurrence and survival in cases of phyllodes tumors of the breast. Pathol Res Pract. 2006;202:705–712.
Tse GMK, Putti TC, Kung FYL, et al. Increased p53 protein expression in malignant mammary phyllodes tumors. Mod Pathol. 2002;15:734–740.
Kim CJ, Kim WH. Patterns of p53 expression in phyllodes tumors of the breast—an immunohistochemical study. J Korean Med Sci. 1993;8:325–328.
Feakins RM, Mulcahy HE, Nickols CD, et al. p53 expression in phyllodes tumours is associated with histological features of malignancy but does not predict outcome. Histopathology. 1999;35:162–169.
Gatalica Z, Finkelstein S, Lucio E, et al. p53 protein expression and gene mutation in phyllodes tumors of the breast. Pathol Res Pract. 2001;197:183–187.
Millar EKA, Beretov J, Marr P, et al. Malignant phyllodes tumours of the breast display increased stromal p53 protein expression. Histopathology. 1999;34:491–496.
Tse GMK, Putti TC, Lui PCW, et al. Increased c-kit (CD117) expression in malignant mammary phyllodes tumors. Mod Pathol. 2004;17:827–831.
Tan WJ, Thike AA, Tan SY, et al. CD117 expression in breast phyllodes tumors correlates with adverse pathologic parameters and reduced survival. Mod Pathol. 2015;28:352–358.
Carvalho S, Silva AOe, Milanezi F, et al. c-KIT and PDGFRA in breast phyllodes tumours: overexpression without mutations? J Clin Pathol. 2004;57:1075–1079.
Chen CM, Chen CJ, Chang CL, et al. CD34, CD117, and actin expression in phyllodes tumor of the breast. J Surg Res. 2000;94:84–91.
Jahangir S, Loya A, Mushtaq S, et al. CD117/c-KIT expression in phyllodes tumor of the breast and its correlation with morphology and clinical outcome. Cureus. 2021;13:e14914.
Bose P, Dunn ST, Yang J, et al. c-Kit expression and mutations in phyllodes tumors of the breast. Anticancer Res. 2010;30:4731–4736.
Djordjevic B, M Hanna W. Expression of c-kit in fibroepithelial lesions of the breast is a mast cell phenomenon. Mod Pathol. 2008;21:1238–1245.
Zhang L, Yang C, Pfeifer JD, et al. Histopathologic, immunophenotypic, and proteomics characteristics of low-grade phyllodes tumor and fibroadenoma: more similarities than differences. NPJ Breast Cancer. 2020;6:27.
Laé M, Vincent-Salomon A, Savignoni A, et al. Phyllodes tumors of the breast segregate in two groups according to genetic criteria. Mod Pathol. 2007;20:435–444.
Lv S, Niu Y, Wei L, et al. Chromosomal aberrations and genetic relations in benign, borderline and malignant phyllodes tumors of the breast: a comparative genomic hybridization study. Breast Cancer Res Treat. 2008;112:411–418.
Calabrese G, Virgilio CD, Cianchetti E, et al. Chromosome abnormalities in breast fibroadenomas. Genes Chromosomes Cancer. 1991;3:202–204.
Fletcher JA, Pinkus GS, Weidner N, et al. Lineage-restricted clonality in biphasic solid tumors. Am J Pathol. 1991;138:1199–1207.
Stephenson CF, Davis RI, Moore GE, et al. Cytogenetic and fluorescence in situ hybridization analysis of breast fibroadenomas. Cancer Genet Cytogenet. 1992;63:32–36.
Leuschner E, Meyer-Bolte K, Caselitz J, et al. Fibroadenoma of the breast showing a translocation (6;14), a ring chromosome and two markers involving parts of chromosome 11. Cancer Genet Cytogenet. 1994;76:145–147.
Rohen C, Bonk U, Staats B, et al. Two human breast tumors with translocations involving 12q13-15 as the sole cytogenetic abnormality. Cancer Genet Cytogenet. 1993;69:68–71.
Wang H, Shen Q, Ye L, et al. MED12 mutations in human diseases. Protein Cell. 2013;4:643–646.
Lim WK, Ong CK, Tan J, et al. Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma. Nat Genet. 2014;46:877–880.
Gonzalez C, Akula S, Burleson M. The role of mediator subunit 12 in tumorigenesis and cancer therapeutics (Review). Oncol Lett. 2022;23:74.
Borahay MA, Asoglu MR, Mas A, et al. Estrogen receptors and signaling in fibroids: role in pathobiology and therapeutic implications. Reprod Sci. 2017;24:1235–1244.
Chang HY, Koh VCY, Md Nasir ND, et al. MED12, TERT and RARA in fibroepithelial tumours of the breast. J Clin Pathol. 2020;73:51–56.
Md Nasir ND, Young Ng CC, Rajasegaran V, et al. Genomic characterisation of breast fibroepithelial lesions in an international cohort. J Pathol. 2019;249:447–460.
Ng CCY, Tan J, Ong CK, et al. MED12 is frequently mutated in breast phyllodes tumours: a study of 112 cases. J Clin Pathol. 2015;68:685–691.
Pareja F, Geyer FC, Kumar R, et al. Phyllodes tumors with and without fibroadenoma-like areas display distinct genomic features and may evolve through distinct pathways. NPJ Breast Cancer. 2017;3:40.
Laé M, Gardrat S, Rondeau S, et al. MED12 mutations in breast phyllodes tumors: evidence of temporal tumoral heterogeneity and identification of associated critical signaling pathways. Oncotarget. 2016;7:84428–84438.
Cani AK, Hovelson DH, McDaniel AS, et al. Next-gen sequencing exposes frequent MED12 mutations and actionable therapeutic targets in phyllodes tumors. Mol Cancer Res. 2015;13:613–619.
Bell RJA, Rube HT, Xavier-Magalhães A, et al. Understanding TERT promoter mutations: a common path to immortality. Mol Cancer Res. 2016;14:315–323.
Mokbel K, Ghilchik M, Parris CN, et al. Telomerase activity in phyllodes tumours. Eur J Surg Oncol. 1999;25:352–355.
Hiyama E, Gollahon L, Kataoka T, et al. Telomerase activity in human breast tumors. J Natl Cancer Inst. 1996;88:116–122.
Tsang JYS, Hui YK, Lee MA, et al. Association of clinicopathological features and prognosis of TERT alterations in phyllodes tumor of breast. Sci Rep. 2018;8:3881.
Nozad S, Sheehan CE, Gay LM, et al. Comprehensive genomic profiling of malignant phyllodes tumors of the breast. Breast Cancer Res Treat. 2017;162:597–602.
Piscuoglio S, Ng CK, Murray M, et al. Massively parallel sequencing of phyllodes tumours of the breast reveals actionable mutations, and TERT promoter hotspot mutations and TERT gene amplification as likely drivers of progression. J Pathol. 2016;238:508–518.
Yoshida M, Ogawa R, Yoshida H, et al. TERT promoter mutations are frequent and show association with MED12 mutations in phyllodes tumors of the breast. Br J Cancer. 2015;113:1244–1248.
Tan J, Ong CK, Lim WK, et al. Genomic landscapes of breast fibroepithelial tumors. Nat Genet. 2015;47:1341–1345.
Ross-Innes CS, Stark R, Holmes KA, et al. Cooperative interaction between retinoic acid receptor-alpha and estrogen receptor in breast cancer. Genes Dev. 2010;24:171–182.
Sim Y, Ng GXP, Ng CCY, et al. A novel genomic panel as an adjunctive diagnostic tool for the characterization and profiling of breast Fibroepithelial lesions. BMC Med Genomics. 2019;12:142.
Noguchi S, Motomura K, Inaji H, et al. Clonal analysis of fibroadenoma and phyllodes tumor of the breast. Cancer Res. 1993;53:4071–4074.
Noguchi S, Yokouchi H, Aihara T, et al. Progression of fibroadenoma to phyllodes tumor demonstrated by clonal analysis. Cancer. 1995;76:1779–1785.
Kasami M, Vnencak-Jones CL, Manning S, et al. Monoclonality in fibroadenomas with complex histology and phyllodal features. Breast Cancer Res Treat. 1998;50:185–191.
Sawhney N, Garrahan N, Douglas-Jones AG, et al. Epithelial--stromal interactions in tumors. a morphologic study of fibroepithelial tumors of the breast. Cancer. 1992;70:2115–2120.
Howe LR, Brown AMC. Wnt signaling and breast cancer. Cancer Biol Ther. 2004;3:36–41.
Mikels AJ, Nusse R. Purified Wnt5a protein activates or inhibits beta-catenin-TCF signaling depending on receptor context. PLoS Biol. 2006;4:e115.
Sawyer EJ, Hanby AM, Rowan AJ, et al. The Wnt pathway, epithelial-stromal interactions, and malignant progression in phyllodes tumours. J Pathol. 2002;196:437–444.
Flint DJ, Tonner E, Beattie J, et al. Role of insulin-like growth factor binding proteins in mammary gland development. J Mammary Gland Biol Neoplasia. 2008;13:443–453.
Sawyer EJ, Hanby AM, Poulsom R, et al. Beta-catenin abnormalities and associated insulin-like growth factor overexpression are important in phyllodes tumours and fibroadenomas of the breast. J Pathol. 2003;200:627–632.
Pacioles T, Seth R, Orellana C, et al. Malignant phyllodes tumor of the breast presenting with hypoglycemia: a case report and literature review. Cancer Manag Res. 2014;6:467–473.
Bogorad RL, Courtillot C, Mestayer C, et al. Identification of a gain-of-function mutation of the prolactin receptor in women with benign breast tumors. Proc Natl Acad Sci U S A. 2008;105:14533–14538.
Courtillot C, Chakhtoura Z, Bogorad R, et al. Characterization of two constitutively active prolactin receptor variants in a cohort of 95 women with multiple breast fibroadenomas. J Clin Endocrinol Metab. 2010;95:271–279.
Chakhtoura Z, Laki F, Bernadet M, et al. Gain-of-function prolactin receptor variants are not associated with breast cancer and multiple fibroadenoma risk. J Clin Endocrinol Metab. 2016;101:4449–4460.
Touraine P, Martini J, Zafrani B, et al. Increased expression of prolactin receptor gene assessed by quantitative polymerase chain reaction in human breast tumors versus normal breast tissues. J Clin Endocrinol Metab. 1998;83:667–674.
Mertani HC, Garcia-Caballero T, Lambert A, et al. Cellular expression of growth hormone and prolactin receptors in human breast disorders. Int J Cancer. 1998;79:202–211.
Gill S, Peston D, Vonderhaar BK, et al. Expression of prolactin receptors in normal, benign, and malignant breast tissue: an immunohistological study. J Clin Pathol. 2001;54:956–960.
Sapino A, Bosco M, Cassoni P, et al. Estrogen receptor-beta is expressed in stromal cells of fibroadenoma and phyllodes tumors of the breast. Mod Pathol. 2006;19:599–606.
Tan WJ, Chan JY, Thike AA, et al. MED12 protein expression in breast fibroepithelial lesions: correlation with mutation status and oestrogen receptor expression. J Clin Pathol. 2016;69:858–865.