Papillomatosis of the breast (PB) is a rare, benign, epitheliosis-like lesion, i.e. an overgrowth of the cells lining the ducts of glands that resembles a papilla (i.e. small rounded protuberance) or nipple-like nodule/tumor. PB tumors develop in the apocrine glands of the breast.[1][2] PB is also termed juvenile papillomatosis because of its frequent occurrence in younger women (including, in uncommon cases, children and adolescent females) and Swiss cheese disease because of its microscopic appearance.[3] Rarely, PB has also been diagnosed in very young, adolescent, and adult males.[4]
A PB tumor is typically an asymptomatic lesion that is detected on examination as a palpable but otherwise symptomless breast mass or in some cases by routine breast cancer screening methods in individuals unaware of the mass's presence.[3] Although PB tumors are themselves benign, a significant percentage of individuals with these tumors concurrently have or will develop certain types of breast carcinomas and/or have a family history of relatives with breast carcinomas.[5] Cases of PB have also been reported to occur in individuals with a family history of certain genetic diseases.[4]
Pediatric cases of PB tumors are commonly treated by total resection.[6] Complete excision of PB tumors with clear surgical margins to remove all tumor cells is important in order to reduce a recurrence of the tumor at its site of removal.[3][7][8] Regular, long-term follow-up monitoring is recommended especially for individuals with multiple PB tumors, individuals who have a family history of relatives with breast cancer, and/or individuals with PB tumors that have other aggressive features.[7][8]
^Ambrosi F, Rossi ED, Calderoni S, Cucchi MC, Saguatti G, Foschini MP (February 2020). "Infiltrating Epitheliosis of the Breast: Fine Needle Aspiration Cytology". International Journal of Surgical Pathology. 28 (1): 38–43. doi:10.1177/1066896919863488. PMID 31328594. S2CID 198135661.
^MD, Juan P. Palazzo (2011). Difficult Diagnoses in Breast Pathology. Demos Medical Publishing. ISBN 9781935281306. Retrieved 21 June 2018.
^ abcGuillet C, Rechsteiner M, Bellini E, Choschzick M, Moskovszky L, Dedes K, Papassotiropoulos B, Varga Z (April 2020). "Juvenile papillomatosis of the breast (Swiss cheese disease) has frequent associations with PIK3CA and/or AKT1 mutations" (PDF). Human Pathology. 98: 64–73. doi:10.1016/j.humpath.2020.02.002. PMID 32088208. S2CID 211261338.
^ abViswanathan K, McMillen B, Cheng E, D'Alfonso T, Patel A, Hoda SA (September 2017). "Juvenile Papillomatosis (Swiss-Cheese Disease) of Breast in an Adult Male With Sequential Diagnoses of Ipsilateral Intraductal, Invasive, and Widely Metastatic Carcinoma: A Case Report and Review of the Disease in Males". International Journal of Surgical Pathology. 25 (6): 536–542. doi:10.1177/1066896917705198. PMID 28420303. S2CID 13659623.
^D'Alfonso TM, Pareja F, Da Cruz Paula A, Vahdatinia M, Gazzo A, Ferrando L, da Silva EM, Cheng E, Sclafani L, Chandarlapaty S, Zhang H, Hoda SA, Wen HY, Brogi E, Weigelt B, Reis-Filho JS (March 2021). "Whole-exome sequencing analysis of juvenile papillomatosis and coexisting breast carcinoma". Journal of Pathology: Clinical Research. 7 (2): 113–120. doi:10.1002/cjp2.190. PMC 7869928. PMID 33263939.
^De Silva NK, Brandt ML (December 2006). "Disorders of the breast in children and adolescents, Part 2: breast masses". Journal of Pediatric and Adolescent Gynecology. 19 (6): 415–8. doi:10.1016/j.jpag.2006.09.002. PMID 17174833.
^ abKnaus ME, Grabowksi JE (August 2021). "Pediatric Breast Masses: An Overview of the Subtypes, Workup, Imaging, and Management". Advances in Pediatrics. 68: 195–209. doi:10.1016/j.yapd.2021.05.006. PMID 34243852. S2CID 235786044.
^ abOlarinoye-Akorede SA, Farouk B, Liman AA, Kajogbola GA (December 2018). "Giant juvenile papillomatosis of the breast in a Nigerian girl". BMJ Case Reports. 11 (1): e225993. doi:10.1136/bcr-2018-225993. PMC 6301522. PMID 30567257.
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