Definition/General
Introduction:
Juvenile papillomatosis is a rare benign proliferative breast lesion that typically affects adolescents and young women
It is characterized by a combination of ductal hyperplasia, papillomatosis, and cysts, leading to the term "Swiss cheese disease".
Origin:
It arises from the terminal duct-lobular unit (TDLU).
Classification:
It is classified as a benign proliferative breast lesion.
Epidemiology:
It is most common in women under 30 years of age
There is often a family history of breast cancer.
Clinical Features
Presentation:
Presents as a painless, firm, well-circumscribed, palpable mass.
Symptoms:
A painless breast lump is the most common symptom.
Risk Factors:
A family history of breast cancer is a significant risk factor.
Screening:
Mammography and ultrasound show a well-defined, heterogeneous mass.
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Gross Description
Appearance:
A well-circumscribed, nodular mass with a variegated cut surface showing numerous small cysts.
Characteristics:
The cysts are filled with clear or bloody fluid.
Size Location:
Size is variable, but can be large.
Multifocality:
Usually unifocal.
Microscopic Description
Histological Features:
The lesion is characterized by a florid proliferation of ducts and ductules, forming papillary structures and cysts of varying sizes
The stroma is often sclerotic
The key features are papillomatosis, ductal hyperplasia, and cysts.
Cellular Characteristics:
The epithelial proliferation is typically of the usual ductal hyperplasia (UDH) type, without significant atypia
Apocrine metaplasia is common.
Architectural Patterns:
The "Swiss cheese" appearance is due to the numerous cysts.
Grading Criteria:
This is a benign lesion
Atypia can be present in some cases.
Immunohistochemistry
Positive Markers:
The myoepithelial cell layer is intact and can be highlighted by myoepithelial markers
The epithelial cells are typically ER-positive.
Negative Markers:
Not typically required for diagnosis.
Diagnostic Utility:
IHC for myoepithelial markers can be used to confirm the benign nature of the lesion.
Molecular Subtypes:
Molecular subtyping is not relevant for this benign condition.
Molecular/Genetic
Genetic Mutations:
Not well characterized.
Molecular Markers:
No specific molecular markers are routinely used for diagnosis.
Prognostic Significance:
Juvenile papillomatosis is associated with an increased risk of subsequent breast cancer, both for the patient and for her family members.
Therapeutic Targets:
Surgical excision is the standard treatment.
Differential Diagnosis
Similar Entities:
Fibroadenoma
Papillary lesions
Low-grade DCIS.
Distinguishing Features:
Fibroadenomas have a more prominent stromal component
Papillary lesions are typically more discrete
DCIS shows monotonous cells and characteristic architecture.
Diagnostic Challenges:
The florid hyperplasia can be mistaken for a malignant process
Careful attention to the cytological features and the overall architecture is important.
Rare Variants:
There are no specific rare variants.
Sample Pathology Report
Template Format
Sample Pathology Report
Complete Report: This is an example of how the final pathology report should be structured for this condition.
Specimen Information
[specimen type], measuring [size] cm in greatest dimension
Diagnosis
[diagnosis name]
Classification
Classification: [classification system] [grade/type]
Histological Features
Shows [architectural pattern] with [nuclear features] and [mitotic activity]
Size and Extent
Size: [X] cm, extent: [local/regional/metastatic]
Margins
Margins are [involved/uninvolved] with closest margin [X] mm
Lymphovascular Invasion
Lymphovascular invasion: [present/absent]
Lymph Node Status
Lymph nodes: [X] positive out of [X] examined
Special Studies
IHC: [marker]: [result]
Molecular: [test]: [result]
[other study]: [result]
Final Diagnosis
Final diagnosis: [complete diagnosis]