Surgical management of a giant fibroadenoma during lactation.

Fibroadenomas are the most common breast lesion in women of reproductive age. During pregnancy and lactation, fibroadenomas can undergo rapid growth in response to hormonal stimulus. These changes may prompt further investigation and/or intervention due to the risk of an underlying phyllodes tumour. We present a case of a female patient who underwent surgical excision of a giant fibroepithelial lesion at 4 months post partum while continuing to breastfeed. The lesion was successfully excised while maintaining lactation. A postoperative milk fistula resolved with non-operative management. There is limited literature on the surgical management of breast lesions in lactating women. This case illuminates the surgical management of breast lesions in an often well informed group of patients who may choose to have surgery while lactating in spite of the increased risk of complications. This case also highlights the need for a holistic approach to maintain the overall health of mother and child.

Large vulvar fibroepithelial polyp and review of differentials.

Vulval fibroepithelial polyps (FEPs) are a rare type of vulval fibroblastic tumour commonly found in premenopausal women. It is important to obtain an accurate pathological diagnosis because, despite being benign, the condition shares some characteristics with malignant vulva lesions in its differential diagnosis. We present a case of young woman in her 20s with a giant FEP. After surgical excision, the patient did not manifest any signs of recurrence after 1-year follow-up. Our review focuses on the distinguishing characteristics of these rare neoplasms as we explore their differential diagnosis.

Importancia del diagnóstico diferencial de los tumores fibroepiteliales mamarios en adolescentes. Descripción de un caso / Importance of the differential diagnosis of breast fibroepithelial tumors in adolescents: Clinical case

El fibroadenoma es la lesión benigna fibroepitelial más frecuente de la mama en la mujer joven, correspondiendo alrededor del 90% de las lesiones sólidas de la glándula en la adolescencia. Sin embargo, el fibroadenoma gigante juvenil es una afección de la glándula mamaria poco frecuente, que afecta principalmente a mujeres menores de 18 años. Debido a la similitud de las características clínicas del fibroadenoma gigante juvenil y el tumor filodes, además del rápido crecimiento de ambas entidades, es importante establecer el diagnóstico diferencial de ambas enfermedades cuando se sospeche de alguna de ellas, con la finalidad de garantizar la actitud terapéutica más adecuada. Adolescente de 14 años de edad sin antecedentes familiares ni personales de interés, quien acude remitida a nuestra consulta en septiembre del 2021 en vista de hallazgos ecográficos, por presentar asimetría mamaria a expensas de nódulo mamario izquierdo de 5 meses de evolución. Se realiza biopsia por aguja gruesa ecoguiada con el resultado de fibroadenoma gigante juvenil. Se practicó tumorectomía. El diagnóstico histopatológico se mostró con fibroadenoma gigante juvenil de mama izquierda. Basándonos en la bibliografía consultada y nuestra experiencia, un diagnóstico diferencial temprano y preciso, en conjunto a la extirpación quirúrgica para una correcta caracterización, sería el manejo más adecuado de estas pacientes. La táctica y técnica quirúrgica dependen de la edad al momento del diagnóstico, de las características clínicas y radiológicas de la glándula mamaria y del tumor, e inclusive de los deseos de la paciente. (AU)

Fibroadenoma is the most common benign fibroepithelial lesion of the breast in young women, accounting for around 90% of solid lesions of the gland in adolescence. However, juvenile giant fibroadenoma is a rare condition of the mammary gland, which mainly affects women under 18 years of age. Due to the similarity of the clinical characteristics of juvenile giant fibroadenoma and phyllodes tumor, in addition to the rapid growth of both. Entities, it is important to establish the differential diagnóstico of both pathologies when one of them is suspected, in order to guarantee the most appropriate therapeutic approach. A 14-year-old adolescent with no family or personal history of interest, who was referred to our clinic in September 2021 in view of ultrasound findings due to presenting breast asymmetry at the expense of a 5-month-old left breast nodule. An ultrasound-guided core needle biopsy was performed with the result of giant juvenile fibroadenoma. Lumpectomy was performed. Histopathological diagnóstico compatible with juvenile giant fibroadenoma of the left breast. Based on the consulted bibliography and our experience, an early and precise differential diagnóstico, together with surgical removal for a correct characterization would be the most appropriate management of these patients. The surgical tactics and technique depend on the age at the time of diagnóstico, the clinical and radiological characteristics of the mammary gland and the tumor, and even the wishes of the patient. (AU)

Dissociating Fibroepithelioma of Pinkus From Internal Malignancy: A Single-Center Retrospective Study.

Fibroepithelioma of Pinkus (FeP) is a rare skin tumor with a clinical presentation similar to benign neoplasms such as acrochordons and seborrheic keratoses. Our study analyzed if there is an association between FeP and internal tumors, specifically gastrointestinal tract tumors. We retrospectively reviewed the medical records of patients with FeP for other tumors throughout their lives until 2020. Although the quality of documentation for each patient may have differed, this study suggests that the presence of FeP does not indicate the presence of gastrointestinal tract tumors, and there is no need for altered cancer screening recommendations for those with FeP.

[Pathological features and clinicopathological significance of TERT promoter mutation in breast fibroepithelial tumors without definite diagnosis].

Objective: To investigate the pathological features and the clinicopathological significance of TERT detection in those tumors that were difficult to diagnosis. Methods: A total of 93 cases of fibroepithelial tumors without definite diagnosis were collected from the Affiliated Hospital of Qigndao University between 2013 and 2021. The clinical details such as patients' age and tumor size were collected. All slides were re-reviewed and the pathologic parameters, including stromal cellularity, stromal cell atypia, stromal cell mitoses, and stromal overgrowth were re-interpreted. Sanger sequencing was used to detect TERT promoter status, and immunohistochemistry was performed to detect TERT protein expression. The relationship between TERT promoter mutation as well as protein expression levels and the clinicopathological parameters were also analyzed. Results: The patients' ages ranged from 30 to 71 years (mean of 46 years); the tumor size ranged from 1.2 to 8.0 cm (mean 3.8 cm). These tumors showed the following morphologic features: leafy structures in the background of fibroadenoma, or moderately to severely abundant stromal cells. The interpretations of tumor border status were ambiguous in some cases. The incidence of TERT promoter mutation was high in patients of age≥50 years, tumor size≥4 cm, and stromal overgrowth at ×4 or ×10 objective, and these clinicopathologic features were in favor of diagnosis of phyllodes tumors. TERT protein expression levels was not associated with the above clinicopathologic parameters and its promoter mutation status. Conclusions: The diagnostic difficulty for the breast fibroepithelial tumors is due to the difficulty in recognition of the leafy structures or in those cases with abundant stromal cells. A comprehensive evaluation combined with morphologic characteristics and molecular parameters such as TERT promoter may be helpful for the correct diagnosis and better evaluating recurrence risk.

Fibroepithelial Lesions of the Breast: Update on Molecular Profile With Focus on Pediatric Population.

CONTEXT.­: This review article derives from the breast pathology lecture at the Eighth Princeton Integrated Pathology Symposium (PIPS VIII). OBJECTIVE.­: To provide a literature review and update on fibroepithelial lesions of the breast with molecular findings and findings regarding the pediatric population. DATA SOURCES.­: The sources include extensive literature review, personal research, and experience. CONCLUSIONS.­: Given significant differences in prognosis and management of fibroepithelial lesions, we aim to provide readers with pertinent definitions, pathomorphology, molecular findings, and management for each diagnosis, with insights on the pediatric population.

Pathological features and clinicopathological significance of TERT promoter mutation in breast fibroepithelial tumors without definite diagnosis / 中华病理学杂志

Objective: To investigate the pathological features and the clinicopathological significance of TERT detection in those tumors that were difficult to diagnosis. Methods: A total of 93 cases of fibroepithelial tumors without definite diagnosis were collected from the Affiliated Hospital of Qigndao University between 2013 and 2021. The clinical details such as patients' age and tumor size were collected. All slides were re-reviewed and the pathologic parameters, including stromal cellularity, stromal cell atypia, stromal cell mitoses, and stromal overgrowth were re-interpreted. Sanger sequencing was used to detect TERT promoter status, and immunohistochemistry was performed to detect TERT protein expression. The relationship between TERT promoter mutation as well as protein expression levels and the clinicopathological parameters were also analyzed. Results: The patients' ages ranged from 30 to 71 years (mean of 46 years); the tumor size ranged from 1.2 to 8.0 cm (mean 3.8 cm). These tumors showed the following morphologic features: leafy structures in the background of fibroadenoma, or moderately to severely abundant stromal cells. The interpretations of tumor border status were ambiguous in some cases. The incidence of TERT promoter mutation was high in patients of age≥50 years, tumor size≥4 cm, and stromal overgrowth at ×4 or ×10 objective, and these clinicopathologic features were in favor of diagnosis of phyllodes tumors. TERT protein expression levels was not associated with the above clinicopathologic parameters and its promoter mutation status. Conclusions: The diagnostic difficulty for the breast fibroepithelial tumors is due to the difficulty in recognition of the leafy structures or in those cases with abundant stromal cells. A comprehensive evaluation combined with morphologic characteristics and molecular parameters such as TERT promoter may be helpful for the correct diagnosis and better evaluating recurrence risk.

Malignant phyllodes tumor of the breast: a systematic review.

Phyllodes tumors (PT) are fibroepithelial neoplasms of the breast showing a peculiar leaf-like appearance. They account for 0.3 to 1% of all primary breast tumors and 2.5% of all fibroepithelial breast tumors. PT are classified into benign, borderline and malignant based upon their stromal morphology with a distribution of 60%, 20%, and 20%, respectively. Malignant PT of the breast constitute an uncommon challenging group of fibroepithelial neoplasms. They have a relatively high tendency to recur, although distant metastasis is uncommon, and nearly exclusive to malignant PT. Adequate surgical resection remains the standard approach to achieve maximal local control. Giant malignant PT are rare and a pose a diagnostic dilemma for pathologists, especially when comprised of sarcomatous elements. This review highlights the morphological features of PT detected in cytology and histology specimens and discusses diagnostic pitfalls and differential diagnosis.

A Rare Case of a Giant Vulval Fibroepithelial Stromal Polyp.

BACKGROUND: A fibroepithelial stromal polyp is an uncommon benign pathology of the female genital tract. Rarely, these benign tumors present as a giant lesion and are clinically difficulty to distinguish from other pathologies. CASE: A 19-year-old female presented with a vulval fibroepithelial stromal polyp measuring ∼8 × 8 × 3 cm that extended from the right labia majora. Present for 2 years, the lesion caused mild discomfort and aesthetic dissatisfaction due to its size but otherwise had no associated symptoms. It was diagnosed using a combination of imaging techniques including ultrasound and magnetic resonance imaging and histological analysis. It was removed surgically and has had no recurrence. SUMMARY AND CONCLUSION: The consideration of both benign and malignant pathologies is paramount when differentiating vulval masses. Thorough clinical reasoning and appropriate use of imaging modalities and histological analysis are essential.

Fibroepithelial tumours of the breast-a review.

Fibroepithelial tumours of the breast are biphasic neoplasms composed of both epithelial and stromal elements, including the common fibroadenoma and the infrequent phyllodes tumour. The admixture of epithelium and stroma in the fibroadenoma shows intra- and pericanalicular patterns, and may display a variety of histological changes. Fibroadenoma variants include the cellular, juvenile, myxoid and complex forms. The cellular fibroadenoma may be difficult to distinguish from the benign phyllodes tumour. Stromal mitotic activity can be increased in fibroadenomas in the young and pregnant patients. Phyllodes tumours, neoplasms with the potential for recurrence, show an exaggerated intracanalicular growth pattern with broad stromal fronded architecture and stromal hypercellularity. They are graded into benign, borderline and malignant forms based on histological assessment of stromal features of hypercellularity, atypia, mitotic activity, overgrowth and the nature of the tumour borders. Classification of phyllodes tumours is imperfect, compounded by tumour heterogeneity with overlapping microscopic features among the different grades, especially in the borderline category. Malignant phyllodes tumours can metastasise and cause death. Determining which phyllodes tumours may behave aggressively has been difficult. The discovery of MED12 mutations in the pathogenesis of fibroepithelial tumours, together with other gene abnormalities in the progression pathway, has allowed refinements in diagnosis and prognosis.

Fibroepithelial polyp of palatine tonsil: a case report.

Fibroepithelial polyps represent a frequent cutaneous lesion of mesodermal origin, with a prevalence of 1.2% and are rarely located at palatine tonsils. We present a rare clinical report of a 70-year-old female patient with fibroepithelial polyp of palatine tonsil. This entity represents the eighth case of palatine tonsil fibroepithelial polyp in the English literature. She presented with a polypoid mass at the right tonsil and unspecified throat symptoms. Physicians should pay attention to such lesions because of the residual risk of malignant transformation, along with non-specific symptoms. Differential diagnosis was among neurofibroma, lipoma, squamous papilloma and fibroepithelial polyp. Histopathological examination following tonsillectomy showed a structure rich in vesicles inside lamina propria and surrounding inflammation, establishing the diagnosis of a fibroepithelial polyp. It requires vigilance during complete clinical examination, in order to detect masses at patients with throat symptoms that could have remained undiagnosed until they become even life threatening.

MED12 exon 2 and TERT promoter mutations in primary and recurrent breast fibroepithelial lesions.

The genetic alterations in the recurrent breast fibroepithelial tumors are poorly understood. In the present study, we aimed to investigate mediator protein complex subunit 12 (MED12) exon 2 and telomerase reverse transcriptase (TERT) promoter mutations in a series of primary and recurrent fibroepithelial tumors. Sanger sequencing for MED12 exon 2 and TERT promoter was performed in 26 pairs of primary and recurrent fibroepithelial tumors (19 pairs of phyllodes tumors and seven pairs of fibroadenomas). The relationship between the genotypes and clinicopathological variables was also analyzed. MED12 mutation was identified in 19 primary tumors (12 phyllodes tumors and 7 fibroadenomas) and 17 recurrences (14 phyllodes tumors and three fibroadenomas). Most recurrent phyllodes tumors retained the original MED12 variants (17/19). Six recurrent fibroadenomas showed different MED12 variants from their paired primary tumors (6/7). TERT promoter mutation was identified in 13 primary phyllodes tumors (13/19) and 15 recurrent phyllodes tumors (15/19). However, it was only identified in one primary fibroadenoma (1/7). Recurrent phyllodes tumors often retained the original MED12 and TERT promoter mutations, while recurrent fibroadenomas often acquired new MED12 mutations. Our findings suggest that recurrent phyllodes tumors may be "true recurrence," and TERT mutant "benign fibroepithelial tumors" should be treated as phyllodes tumors.

Giant fibroepithelial vulvar polyp in a pregnant woman.

Fibroepithelial polyps are benign lesions that may appear in the vulvovaginal region. They usually occur in women of reproductive age and tend to grow up to 5 cm, but there are some rare cases in which they grow up to 20 cm. We report a case of a 22-year-old woman in the third trimester of her first pregnancy with spontaneous bleeding from a pedunculated mass measuring 15 cm in the widest diameter on the right side of the vulva. Features of this case are discussed as well as its implications, especially regarding the decision of labour. Due to the big size of the mass and its propensity to bleed, we decided to perform an elective caesarean section as well as its excision.

Characteristic Clinicopathological Features of Secondary Extramammary Paget Disease With Underlying Anorectal Adenocarcinoma: Evenly Circumferential Perianal Distribution, Fibroepithelioma of Pinkus-like Changes, and Subepidermal Mucin Deposits Without Invasive Tumor Cells.

ABSTRACT: This study aimed to identify the clinical and histopathological characteristics of secondary extramammary Paget disease (EMPD) with underlying anorectal adenocarcinoma so as to differentiate it from primary cutaneous EMPD. Seventeen and 8 cases of primary and secondary EMPD with anorectal adenocarcinoma, respectively, were retrieved from the pathology archive and the clinical and histopathological features reviewed. The tumor samples from 21 cases were totally resected specimens, whereas 3 and 1 of secondary and primary cases were punch biopsied, respectively. All 8 (100%) cases of secondary EMPD presented evenly distributed perianal lesions. By contrast, 4 of 17 (23.5%) primary EMPD cases had perianal skin lesions and displayed an uneven, asymmetrical distribution around the anus. Fibroepithelioma of Pinkus-like changes and subepidermal mucin deposits with no or few invasive tumor cells were observed in 6 (75%) and 3 (37.5%) of the 8 secondary EMPD cases, respectively, although 3 secondary case samples were small biopsy specimens. Both the histopathological changes were not observed in any of the 17 primary EMPD cases. Evenly circumferential perianal distribution, fibroepithelioma of Pinkus-like changes, and subepidermal mucin deposits without invasive tumor cells were characteristic to cases of secondary EMPD with anorectal adenocarcinoma. These clinicopathological features could be used to differentiate between secondary and primary EMPD.

HMGA2 Is a Useful Marker of Vulvovaginal Aggressive Angiomyxoma But May Be Positive in Other Mesenchymal Lesions at This Site.

Aggressive angiomyxoma (AA) is a rare mesenchymal neoplasm occurring almost exclusively in the vulvovaginal region and which has a wide differential diagnosis. It has previously been suggested that the nuclear transcription factor HMGA2 is a useful marker of AA, although the number of studies is limited. We investigated HMGA2 immunoreactivity in a large series (n=284) of vulvovaginal mesenchymal lesions. HMGA2 nuclear staining was classified as diffuse (≥50%), focal (<50%), or negative. Of 38 cases of AA, 26 (68%) were positive; 77% (n=20) of these exhibited diffuse staining. Of the 41 smooth muscle tumors, 18 (44%) were positive with 16 (89%) exhibiting diffuse staining. 80 fibroepithelial stromal polyps were included and 15 (19%) were positive (8 diffuse; 7 focal). Most of the fibroepithelial stromal polyps that exhibited diffuse HMGA2 immunoreactivity were large and edematous. Occasional cases of a variety of other lesions were positive, including 1 of 30 superficial myofibroblastomas and 1 of 16 angiomyofibroblastomas. Cellular angiofibromas (n=12) and superficial angiomyxomas (n=6) were always negative. Our results confirm that HMGA2 is a useful marker of AA but a significant minority of cases are negative. The marker also lacks specificity, since a high percentage of smooth muscle tumors are positive, although these typically do not bear a close morphologic resemblance to AA. A novel observation in our study is positive staining of some fibroepithelial stromal polyps, particularly when large and edematous; these are particularly likely to be confused morphologically with AA and positive staining with HMGA2 represents a significant diagnostic pitfall.

Fibroepithelial lesions revisited: implications for diagnosis and management.

Fibroepithelial lesions of the breast, comprising the fibroadenoma and phyllodes tumour, are a unique group of neoplasms that share histological characteristics but possess different clinical behaviour. The fibroadenoma is the commonest benign breast tumour in women, while the phyllodes tumour is rare and may be associated with recurrences, grade progression and even metastasis. The diagnosis of fibroadenoma is usually straightforward, with recognised histological variants such as the cellular, complex, juvenile and myxoid forms. The phyllodes tumour comprises benign, borderline and malignant varieties, graded using a constellation of histological parameters based on stromal characteristics of hypercellularity, atypia, mitoses, overgrowth and the nature of tumour borders. While phyllodes tumour grade correlates with clinical behaviour, interobserver variability in assessing multiple parameters that are potentially of different biological weightage leads to significant challenges in accurate grade determination and consequently therapy. Differential diagnostic considerations along the spectrum of fibroepithelial tumours can be problematic in routine practice. Recent discoveries of the molecular underpinnings of these tumours may have diagnostic, prognostic and therapeutic implications.

The role of insulin-like growth factor in Acrochordon Etiopathology.

BACKGROUND: There are reports that acrochordon (skin tag), the most common fibroepithelial tumor of the skin, may be associated with metabolic syndrome components, particularly insulin metabolism disorders. However, to the best of our knowledge, there is no study examining its association with insulin resistance and tissue levels of insulin-like growth factor 1 receptor (IGF-1R) and insulin-like growth factor 2 receptor (IGF-2R). METHODS: Thirty patients with at least one acrochordon in their body who had no known history of diabetes mellitus and a control group comprised 30 individuals who had no acrochordon or no known history of diabetes mellitus were included. The tissue expression of IGF-1R and IGF-2R were investigated via immunohistochemical assessment in both groups. RESULTS: In the group with acrochordon, IGF-1R and IGF-2R expression was found to be significantly higher compared to the control group (p < 0,01). Using logistic regression analysis, an increase in serum insulin, serum IGF-1 and HOMA-IR levels was found to be associated with the expression levels of IGF-1R and IGF-2R. CONCLUSION: These findings support the view that insulin metabolism disorders should be evaluated in patients with acrochordon. Our study indicates that IGF receptors may have an effect on acrochordon pathogenesis and that acrochordon etiology and related conditions can be clarified by detection of parameters that influence receptor levels.

Core needle biopsy diagnosis of fibroepithelial lesions of the breast: a diagnostic challenge.

Fibroepithelial lesions (FEL) of the breast are biphasic neoplasms consisting of proliferative epithelial and stromal components and include fibroadenoma, phyllodes tumour and periductal stromal tumour. Core needle biopsy (CNB) is a commonly used diagnostic modality for investigation of breast lesions. As the accurate diagnosis of FEL requires integrated assessment of both epithelial and stromal components, this may create problems in small biopsies with limited sampling. In this review, common problems encountered in CNB of FEL are discussed, including establishing a diagnosis of borderline/malignant phyllodes tumour in a biopsy consisting of malignant spindle cells, differentiating phyllodes tumour from fibroadenoma on CNB, grading of phyllodes tumour of intermediate histological grade and assessment of periductal stromal tumours. The approaches are detailed systematically based on histology, immunohistochemistry and molecular characterisation. This comprehensive approach may aid in dealing with the overlapping histological appearance of FEL and sampling limitations of CNB.