Giant juvenile papillomatosis of the breast in a Nigerian girl

Abstract

Juvenile papillomatosis is a benign epithelial proliferative tumour of young women. It was recognised as a distinct clinicopathological entity with defining criteria by Rosen et al since 1980. However, giant juvenile papillomatosis is rare. We report a case of a 14-year-old girl who presented to our institution’s breast clinic with a huge right breast mass measuring 20 cm × 15 cm. She had no personal history of previous breast disease and there was no family history of breast cancer. Our initial preoperative diagnosis was of a phylloides tumour. The patient had a total excision of her breast mass which revealed florid juvenile papillomatosis at histology. This presentation highlights the clinical presentation and imaging features of juvenile papillomatosis. The classical histopathological characteristics, unusual microscopic findings and management of a huge-sized tumour in an adolescent Nigerian patient are also presented.

Background

Giant juvenile papillomatosis is extremely rare. Although previous reports exist, there is none of this size to the best of our knowledge.

In the paediatric age group, huge breast masses are often diagnosed as giant fibroadenoma or phylloides tumour. The diagnosis of juvenile papillomatosis was made only after biopsy; hence, we aim to heighten the level of suspicion because misdiagnosis could be due to under-recognition. Although juvenile papillomatosis also occurs in the adults, the histological features of focal necrosis, cribriform pattern, are premalignant features which are seen usually in adult patients and not in the paediatric patients.

The importance of surveillance is therefore emphasised by this case.

Case presentation

A 14-year-old girl presented with a progressively enlarging, non-tender right breast mass which she noticed 6 months prior. She stated that the mass was initially the size of her thumb but it has now grown enormously, compared with her right breast. It was associated with dragging sensation and interruption of her daily activities due to discomfort. She also noticed yellowish nipple discharge. She attained menarche at 11 years old. There was no contributory social or medical history, and there was no family history of breast cancer.

The patient was in a healthy condition on general physical examination. However, breast examination revealed a pendulous right breast which was uniformly enlarged (figure 1). There were visibly distended veins and hyperpigmentation from traditional medication. There were multinodular masses which were non-tender.

Figure 1.

Enlarged pendulous right breast with distended veins.

The nipple and areolar showed no abnormality. There were no enlarged axillary lymph nodes.

Her left breast was normal.

Investigations

Breast ultrasound (figure 2) showed a heterogenous mass which contains numerous tiny anechoic (cystic) areas as well as circumscribed solid components. Its margin was ill defined.

Figure 2.

Ultrasound of the right breast showing an inhomogenous mass with multiple cystic spaces and circumscribed hypoechoic masses.

Mammography was not performed due to the patient’s age.

Macroscopically, the mass was fairly defined and nodular.

It measured 18 cm × 15 cm × 12 cm, and weighed 1696 g. Microscopy showed a heterogenous mixture of patterns comprising ductal epithelial hyperplasia with simple-to-complex papillary formations, cribriform pattern, sclerosing adenosis, ductal dilatations and cysts (figure 3A and B).

Figure 3.

(A) and (B) Photomicrograph of juvenile papillomatosis showing cysts, duct hyperplasia, papillary formations, dilated ducts and focal adenosis (H&E, magnification × 40).

There were also fibroadenomatoid changes and foci of infarction.

The final diagnosis of juvenile papillomatosis was made.

Differential diagnosis

Phylloides tumour, giant juvenile fibroadenoma.

Treatment

The patient had complete excision of her right breast mass under general anaesthesia. She had a stable postsurgical condition and was subsequently discharged after 8 days of hospitalisation.

Outcome and follow-up

She has been followed up by physical examination and breast ultrasound for 2 years. There is no tumour recurrence nor any other breast lesion detected.

Discussion

Juvenile papillomatosis is a benign proliferative disease of the ductal epithelium of the breast, which is commonly seen in young women. It was first described as a clinical entity in 1980 by Rosen et al.¹ It generally measures <3 cm in size but it could range from 1 to 8 cm.^{2 3} We are aware of only one previous report of two cases of giant juvenile papillomatosis.⁴

The patients are usually less than 30 years,^5–7 and most cases described have been among Caucasians. Juvenile papillomatosis also occurs in older patients. Available literature supports that juvenile papillomatosis is a marker for familial breast cancer.^{2 8–10} There is a 10%–15% risk for concurrent or future breast cancer,^{11 12} especially where there is a positive family history of breast cancer, when lesions are multiple or recurrent and where there are atypical histological features. There was no family history of breast cancer. However, the risk factor that we find worrisome in the index patient is the presence of atypical histological features.

The diagnosis is rarely made before surgery.^{6 7} Large tumours would have a similar presentation as phylloides tumour² as was also seen in this case, while smaller lesions are initially clinically diagnosed as fibroadenoma.

Ultrasound is the imaging technique of choice and it is particularly suited for the young patients. It is also useful in differentiating between other cystic or benign breast conditions. On ultrasound, juvenile papillomatosis appears as a poorly defined inhomogenous mass with numerous anechoic areas (mainly located peripherally), representing the cysts seen on histology.

The defining features histologically are duct epithelial papillomatosis with or without atypia, apocrine and non-apocrine cysts, duct stasis and sclerosing adenosis.¹ The additional findings in our patient were foci of necrosis, some areas showing a cribriform pattern and papillary hyperplasia, both of which may suggest premalignant changes.

There are other types of ductal hyperplasia in adolescents: papilloma, papillomatosis and sclerosing papillomatosis, which should be differentiated from juvenile papillomatosis. These other forms of hyperplasia lack the cystic component that is characteristic of juvenile papillomatosis.

Analysis of juvenile papillomatosis on immunohistochemistry^{9 13} show that the tumour is negative for oestrogen receptors and tumour-suppressor proteins but positive for PR and EGFR, HER2. Abnormality of oestrogen receptors has been entertained in the aetiopathogenesis of the tumour.

What remains unclear due to lack of data is whether size has any role for the subsequent development of breast cancer or recurrent disease. Nonetheless, large tumours will require meticulous attention to ensure complete resection of the tumour. This will reduce the chance of tumour recurrence. It is also interesting to note that the only previous report on huge juvenile papillomatosis in the literature was also in an African patient from Libya,⁴ which entertains the thought of tumour size and racial predilection.

The treatment of juvenile papillomatosis is by complete excision of the mass with clear tumour margins. This would suffice if there is no concurrent malignancy. However, regular monitoring is mandatory for patients especially when the tumour is multiple, when it showed atypical features or where there is a strong family history of breast cancer.

Conclusion

Juvenile papillomatosis although benign is rarely encountered in our environment. The goal of management is complete excision; therefore, large masses require utmost skill to ensure clear margins. Surveillance of patients and relatives is required for early detection of recurrence or breast cancer.

Learning points.

• Paediatric breast masses are mostly benign but a few have malignant potential.

• Giant juvenile papillomatosis can easily be overlooked as phylloides tumour or giant fibroadenoma because of overlapping clinical presentation.

• The association of juvenile papillomatosis with breast cancer makes it imperative to include as differential diagnosis in paediatric tumours.

• Long-term patient follow-up and family surveillance will help in early detection of breast cancer.