Juvenile papillomatosis of the breast associated with neurofibromatosis 1

Tan, Tiong Yang; Amor, David J.; Chow, C. W.

doi:10.1002/pbc.20956

Cited by 8 publications

(5 citation statements)

References 13 publications

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“…Two cases of JPB, one of a 7-month-old male infant and another of a 9-month-old male infant, have been reported to have “several café au lait spots,” commonly the only clinical manifestation of neurofibromatosis type 1 (NF1) in infants. 14,15 Interestingly, the latter patient fulfilled the NIH diagnostic criteria for NF1 by the age of 3. 16 JPB was reported in another 13-month-old male with café au lait spots and Noonan syndrome (NS).…”

Section: Discussionmentioning

confidence: 92%

“…NS has been reported together with NF-type 1 (NF1-NS), although there were no features of NF1 in this case. 15,18,19 The clinical overlap between NF1 and NS is unsurprising because their protein products (neuroformin and SHP2, respectively) function in the same pathways with key roles in tumorigenesis. 15 Several cases of JPB coupled with invasive secretory carcinoma have been reported.…”

Section: Discussionmentioning

confidence: 99%

“…15,18,19 The clinical overlap between NF1 and NS is unsurprising because their protein products (neuroformin and SHP2, respectively) function in the same pathways with key roles in tumorigenesis. 15 Several cases of JPB coupled with invasive secretory carcinoma have been reported. 1,3,10,11 This type of carcinoma (regardless of whether it is primary in the breast, salivary gland, or skin) has been strongly linked to ETV6 gene fusion.…”

Section: Discussionmentioning

confidence: 99%

“…To date, 10 cases of JPB have been reported in males 14,15,17,23 -28 (Table 1). Five of these patients were of prepubertal age at diagnosis—a phase of life during which breast diseases are extremely uncommon (particularly in males).…”

Section: Discussionmentioning

confidence: 99%

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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

et al. 2017

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Juvenile papillomatosis of the breast (JPB, also known as Swiss cheese disease) is a rare ailment that typically afflicts young females, and presents as a mass-forming lesion. The lesional mass usually comprises multiple cysts and duct stasis, amid a variety of proliferative and nonproliferative epithelial changes. The proliferative changes include papillary hyperplasia, florid hyperplasia, and papillary apocrine hyperplasia. Concurrent carcinoma (either in situ or invasive) is present in approximately 10% of cases at presentation, and subsequent carcinoma (either in situ or invasive) is diagnosed in about 10% of patients. About 20% of patients have a strong family history of breast carcinoma. A total of 10 cases of JPB have been previously reported in males, both children and adults, only one of which, in a 33-year-old, was associated with invasive carcinoma. Here, another case of JPB in a 45-year-old male-one with subsequent sequential diagnoses of ipsilateral intraductal carcinoma, invasive carcinoma, and widely metastatic carcinoma over the course of 15 years-is reported.

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Section: Discussionmentioning

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

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

et al. 2017

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“…Thus far, ~400 cases of JP have been reported, the majority in Caucasian females aged <30 years at the time of diagnosis. The present study identified 10 cases of JP in males to date by conducting a search of the English literature using PubMed ( http://www.ncbi.nlm.nih.gov/pubmed ) ( 9 – 11 ). Cases of JP in Asian individuals were rare and, thus, fewer reports exist.…”

Section: Discussionmentioning

confidence: 99%

Bifocal juvenile papillomatosis as a marker of breast cancer: A case report and review of the literature

Wang

Liu

et al. 2014

Oncology Letters

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Juvenile papillomatosis (JP), also termed Swiss cheese disease, is a rare and benign type of proliferative breast tumor that is specifically observed in children and adolescents. The majority of JP patients are Caucasian and exhibit a single breast mass. The current report presents an unusual case of bifocal JP in an 11-year-old Chinese female. The patient presented with a slow-growing palpable mass in the upper outer quadrant of the left breast. Ultrasonography identified a further impalpable lesion in the lower outer quadrant of the ipsilateral breast. The preoperative clinical diagnosis of the two masses was fibroadenoma, however, following complete excision of the two tumors, histopathology revealed JP. Furthermore, the patient had a family history of breast cancer. The current report describes a review of the literature regarding the presentation, pathology, diagnosis, and treatment of JP and its association with breast carcinoma. In the current case, JP was associated with an increased risk of breast cancer in the patient, as well as the patient’s elder female relatives; therefore, a more thorough medical follow-up may prove prudent for those individuals with a high risk of developing breast cancer.

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