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Aims: Juvenile fibroadenomas (JFA) are biphasic fibroepithelial lesions (FEL) usually occurring in adolescent female patients. Giant (G) JFA, like other FEL, may exhibit prominent pseudoangiomatous stromal hyperplasia (PASH)-like change. We sought to determine clinicopathological and molecular characteristics of GJFA with and without PASH.
Methods And Results: Archives were searched for cases of GJFA (1985-2020). All were stained for androgen receptor (AR), beta-catenin, CD34 and progesterone receptor (PR). Cases were sequenced using a custom 16-gene panel - MED12 (exons 1 and 2), TERT promoter (-124C>T and -146Ctable>T), SETD2, KMT2D, RARA (exons 5-9), FLNA, NF1, PIK3CA (exons 10, 11 and 21), EGFR, RB1, BCOR, TP53, PTEN, ERBB4, IGF1R and MAP3K1. Twenty-seven GJFA from 21 female patients aged 10.1-25.2 years were identified. Size ranged from 5.2 to 21 cm. Two patients had multiple, bilateral and later recurrent GJFA. Thirteen (48%) cases showed prominent PASH-like stroma. All were positive for stromal CD34, negative for AR and beta-catenin and one case showed focal PR expression. Sequencing showed MAP3K1 and SETD2 mutations in 17 samples, with KMT2D, TP53 and BCOR aberrations in 10 (45%), 10 (45%) and seven (32%) cases, respectively. Tumours with a PASH-like pattern had higher prevalence of SETD2 (P = 0.004) and TP53 (P = 0.029) mutations, while those without PASH had more RB1 mutations (P = 0.043). MED12 mutation was identified in one case. TERT promoter mutation was observed in four (18%), including two recurrences.
Conclusions: Gene mutations along more advanced phases of the proposed FEL pathogenetic pathway in GJFA are unusual, and suggest a mechanism for more aggressive growth in these tumours.
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http://dx.doi.org/10.1111/his.14935 | DOI Listing |
Cureus
October 2024
General Surgery, Salmaniya Medical Complex, Manama, BHR.
Fibroadenoma is a type of benign tumor that occurs in breast tissues, commonly in younger age groups. However, the presentation of the patient described below shows how the disease presents in various manners. A 52-year-old woman presented to the outpatient clinic with a unilateral, giant, left-sided fungating breast mass who was later admitted under the General Surgical team, at Salmaniya Medical Complex (SMC) for further corresponding diagnostic workup.
View Article and Find Full Text PDFBackground Core needle biopsy (CNB) for fibroepithelial lesions (FELs) of the breast is commonly encountered by histopathologists. The distinction between fibroadenoma (FA) and phyllodes tumor (PT) can be challenging due to overlapping histological features and the limited nature of CNB material. Objective This study aimed to assess the accuracy of CNB diagnosis of FA and PT by comparing it with a diagnosis on subsequent surgical excision specimen.
View Article and Find Full Text PDFRMD Open
July 2024
Department of Paediatrics and Autoinflammation reference Center Tuebingen (arcT), Universitatsklinikum Tubingen, Tubingen, Baden-Württemberg, Germany
Int J Surg Case Rep
August 2024
Faculty of Medicine, Jabir Ibn Hayyan for Medical and Pharmaceutical Science, Iraq.
Int J Surg Case Rep
August 2024
Radiology Department, Women and Children Hospital - Ibn Sina University Hospital, University Mohamed V, Rabat, Morocco.
Introduction And Importance: Breast pathology in adolescents is rare and predominantly benign, with abnormalities including congenital anomalies, infections, mastodynia, nipple discharge, and mostly benign breast masses. Fibroepithelial tumors, the most common type, form a heterogeneous group that includes benign, borderline, and malignant entities such as phyllodes tumors. Differentiation of these tumors, especially various types of fibroadenomas, requires histopathological examination due to their similar radiological appearances and lesion heterogeneity.
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