Juvenile papillomatosis of the breast in male infants: two case reports

Rice, Henry E.; Acosta, Agustina; Brown, Rosalind; Gutiérrez, Carmen; Alashari, Mouied; Mintequi, D; Rodríguez, Ángeles; Chavarrfa, O; Azizkhan, Richard G.

doi:10.1007/s003830050030

Cited by 22 publications

(13 citation statements)

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“…The primary tumor of A11-12y was classified as secretory breast carcinoma. This is also a rare BC subtype, frequently found in young females and previously reported in a 12-year-old girl, in association with juvenile papillomatosis of the breast, a condition related to jBC risk, not documented in A11-12y [51][52][53]. This tumor was assigned to the basal molecular subtype, and was also p16(INK4A)positive.…”

Section: Discussionmentioning

confidence: 55%

High-risk human papilloma virus infection, tumor pathophenotypes, and BRCA1/2 and TP53 status in juvenile breast cancer

Aceto

Solano

Neuman

et al. 2009

Breast Cancer Res Treat

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Juvenile breast cancer is rare and poorly known. We studied a series of five breast cancer patients diagnosed within 25 years of age that included two adolescents, 12- and 15-years-old, and 3 young women, 21-, 21-, and 25-years-old, respectively. All cases were scanned for germline mutations along the entire BRCA1/2 coding sequences and TP53 exons 4-10, using protein truncation test, denaturing high performance liquid chromatography and direct sequencing. Paraffin-embedded primary tumors (available for 4/5 cases), and a distant metastasis (from the 15-years-old) were characterized for histological and molecular tumor subtype, human papilloma virus (HPV) types 16/18 E6 sequences and tumor-associated mutations in TP53 exons 5-8. A BRCA2 germline mutation (p.Ile2490Thr), previously reported in breast cancer and, as compound heterozygote, in Fanconi anemia, was identified in the 21-year-old patient diagnosed after pregnancy, negative for cancer family history. The tumor was not available for study. Only germline polymorphisms in BRCA1/2 and/or TP53 were detected in the other cases. The tumors of the 15- and 12-years-old were, respectively, classified as glycogen-rich carcinoma with triple negative subtype and as secretory carcinoma with basal subtype. The tumors of the 25-year-old and of the other 21-year-old were, respectively, diagnosed as infiltrating ductal carcinoma with luminal A subtype and as lobular carcinoma with luminal B subtype. No somatic TP53 mutations were found, but tumor-associated HPV 16 E6 sequences were retrieved from the 12- and 25-year-old, while both HPV 16 and HPV 18 E6 sequences were found in the tumor of the 15-year-old and in its associated metastasis. Blood from the 15- and 25-year-old, diagnosed with high-stage disease, resulted positive for HPV 16 E6. All the HPV-positive cases were homozygous for arginine at TP53 codon 72, a genotype associated with HPV-related cancer risk, and the tumors showed p16(INK4A) immunostaining, a marker of HPV-associated cancers. Notably menarche at 11 years was reported for the two adolescents, while the 25-year-old was diagnosed after pregnancy and breast-feeding. Our data suggest that high-risk HPV infection is involved in a subset of histopathologically heterogeneous juvenile breast carcinomas associated with menarche or pregnancy and breast-feeding. Furthermore we implicate BRCA2 in a juvenile breast carcinoma diagnosed at 21 years of age, 4 years after an early full-term pregnancy, in absence of cancer family history.

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Section: Discussionmentioning

confidence: 55%

High-risk human papilloma virus infection, tumor pathophenotypes, and BRCA1/2 and TP53 status in juvenile breast cancer

Aceto

Solano

Neuman

et al. 2009

Breast Cancer Res Treat

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“…The natural history of JP in males is less clear due to its rarity. There are only two reports of JP in male infants 7. We report a 1‐year‐old boy with JP of the breast, Noonan syndrome (NS), café au lait spots, and family history of breast carcinoma, an association not previously described in the literature.…”

Section: Introductionmentioning

confidence: 72%

“…The natural history of JP in males is less clear and, to date, only seven cases (two infants) have been reported in the literature (Table I) 7–12. The mean follow‐up after excision of JP in these cases was 16 months (follow‐up was not available in one case 9).…”

Section: Discussionmentioning

confidence: 99%

Juvenile papillomatosis of the breast in a male infant with Noonan Syndrome, café au lait spots, and family history of breast carcinoma

Pacilli

Sebire

Thambapillai

et al. 2005

Pediatric Blood & Cancer

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Juvenile papillomatosis (JP) of the breast is a rare condition, usually affecting women under 30 years of age. Although this is considered a benign lesion, follow-up is recommended for the patient and family since there is an association with a family history of breast carcinoma and increased risk of development of breast carcinoma. We report an infant with JP, Noonan syndrome (NS), café au lait spots, and family history of breast carcinoma. Seven previously reported cases of JP in males exist, two occurring in infants. The association between JP and NS has not been previously reported.

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“…23 The treatment of juvenile papillomatosis is total resection, with preservation of the normal breast. 22 Trauma Trauma can result in lesions that resemble either an infection or a mass in adolescents. Fat necrosis, occurring after trauma, can resemble a solid mass in the breast.…”

Section: Giant Fibroadenomasmentioning

confidence: 99%

“…23 It is considered a marker for increased breast cancer risk in family members, but not necessarily in the patient, unless recurrent. 22 In situ and invasive carcinoma, usually juvenile secretory carcinoma, has been reported in up to 15% of cases of juvenile papillomatosis. 23 The treatment of juvenile papillomatosis is total resection, with preservation of the normal breast.…”

Section: Giant Fibroadenomasmentioning

confidence: 99%