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2.
Dermatol Online J ; 30(1)2024 Mar 15.
Article in English | MEDLINE | ID: mdl-38762857

ABSTRACT

Cutaneous basal cell carcinoma in situ is a recently proposed subtype of this skin cancer. It is characterized by either restriction of the tumor cells within the epidermis or the presence of tumor cells contiguous with the overlying epidermis that extend into the underlying dermis, or both. Importantly, cancer invasion-demonstrated by non-contiguous aggregates of basaloid tumor cells in the dermis-is not a feature of in situ basal cell carcinoma of the skin. A 63-year-old woman with cutaneous basal cell carcinoma in situ-superficial type that presented as an erythematous scaly plaque on her abdomen and a 61-year-old man with a cutaneous basal cell carcinoma in situ-fibroepithelioma type that presented as a flesh-colored smooth exophytic nodule on his back are reported. The characteristics of in situ basal cell carcinoma of the skin in these individuals are summarized. In conclusion, similar to other cutaneous malignant neoplasms-such as squamous cell carcinoma, malignant melanoma, and Merkel cell carcinoma-basal cell carcinoma of the skin can also present as an in situ cancer.


Subject(s)
Carcinoma, Basal Cell , Skin Neoplasms , Humans , Skin Neoplasms/pathology , Carcinoma, Basal Cell/pathology , Middle Aged , Female , Male , Carcinoma in Situ/pathology , Neoplasms, Fibroepithelial/pathology , Neoplasms, Fibroepithelial/diagnosis
3.
J Investig Med High Impact Case Rep ; 12: 23247096241248981, 2024.
Article in English | MEDLINE | ID: mdl-38682757

ABSTRACT

Bronchial fibroepithelial polyps are exceedingly rare with few cases have been reported. They can manifest with a wide array of symptoms; ranging from being totally asymptomatic, cough, refractory dyspnea, and hemoptysis. In our case, our patient's condition was diagnosed and was managed as asthma. It is one of the rare benign conditions to be encountered, shares similar morphology with other tumors such as angiomyofibroblastoma, aggressive angiomyxoma, and cellular angiofibroma. These lesions have a slow growth pattern which may end up with obstruction. According to the tumor size and symptoms caused by it, treatment varies from observation to complete resection. This case describes an incidental finding of fibroepithelial polyp in the main bronchus for a patient with long-term refractory cough for 5 years, was misdiagnosed to have asthma. Diagnosis typically involves imaging and bronchoscopy, followed by appropriate therapeutic measures and careful monitoring to assess the prognosis.


Subject(s)
Asthma , Bronchial Neoplasms , Bronchoscopy , Diagnostic Errors , Polyps , Humans , Asthma/diagnosis , Polyps/pathology , Polyps/diagnosis , Bronchial Neoplasms/diagnosis , Bronchial Neoplasms/pathology , Bronchial Neoplasms/diagnostic imaging , Bronchial Neoplasms/surgery , Male , Tomography, X-Ray Computed , Middle Aged , Cough/etiology , Female , Neoplasms, Fibroepithelial/pathology , Neoplasms, Fibroepithelial/diagnosis , Neoplasms, Fibroepithelial/surgery , Bronchi/pathology
4.
Int J STD AIDS ; 35(7): 569-570, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38456826

ABSTRACT

We report the case of a young man who has never had any sexual contact presenting with a large scrotal lump with secondary bacterial infection. He reported no prior warts - genital or cutaneous. On examination, he had a large pink cauliform mass on the scrotum with four smaller but similar satellite lesions. Appearances were thought to be consistent with giant condyloma of Buschke and Lowenstein. Once superinfection was treated with oral antibiotics, he had a trial of imiquimod without success and was then referred to urology. After surgical excision, pathology concluded it was an inflamed fibroepithelial polyp with no malignant changes. To our knowledge, this is the first case report of a giant scrotal fibroepithelial polyp with characteristic gross warty features in an adult.


Subject(s)
Condylomata Acuminata , Polyps , Scrotum , Humans , Male , Scrotum/pathology , Polyps/diagnosis , Polyps/pathology , Polyps/surgery , Condylomata Acuminata/diagnosis , Condylomata Acuminata/pathology , Condylomata Acuminata/surgery , Diagnosis, Differential , Adult , Neoplasms, Fibroepithelial/diagnosis , Neoplasms, Fibroepithelial/pathology , Neoplasms, Fibroepithelial/surgery , Treatment Outcome
5.
BMJ Case Rep ; 17(2)2024 Feb 06.
Article in English | MEDLINE | ID: mdl-38320829

ABSTRACT

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.


Subject(s)
Breast Neoplasms , Fibroadenoma , Fibroma , Neoplasms, Fibroepithelial , Phyllodes Tumor , Pregnancy , Child , Female , Humans , Fibroadenoma/surgery , Fibroadenoma/pathology , Lactation , Breast Neoplasms/surgery , Breast Neoplasms/pathology , Neoplasms, Fibroepithelial/pathology , Breast/pathology , Phyllodes Tumor/pathology , Fibroma/pathology
6.
BMJ Case Rep ; 17(2)2024 Feb 14.
Article in English | MEDLINE | ID: mdl-38355212

ABSTRACT

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.


Subject(s)
Neoplasms, Fibroepithelial , Neoplasms, Fibrous Tissue , Polyps , Vulvar Neoplasms , Female , Humans , Neoplasms, Fibroepithelial/diagnosis , Neoplasms, Fibroepithelial/surgery , Neoplasms, Fibroepithelial/pathology , Neoplasms, Fibrous Tissue/pathology , Polyps/diagnosis , Polyps/surgery , Polyps/pathology , Vulva/pathology , Vulvar Neoplasms/diagnosis , Vulvar Neoplasms/surgery , Vulvar Neoplasms/pathology , Adult
7.
J Dermatol ; 51(5): 719-721, 2024 May.
Article in English | MEDLINE | ID: mdl-38212937

ABSTRACT

Onychomatricoma is a rare, fibroepithelial tumor of the nail. Although it is benign, unnecessary and excessive treatment, such as extensive or total removal of the nail matrix, has been reported in the past. Recently, it was speculated that onychomatricoma is derived from onychomatricodermis, the dermal stroma of the nail matrix. Excision of the stromal rather than the epithelial component of the tumor is important. However, since the boundary between the normal and diseased stroma is usually unclear, minimal excision at the base of the tumor projection should be sufficient. We report a case of onychomatricoma and suggest a method of surgical treatment that would minimize postoperative deformity of the nail plate.


Subject(s)
Minimally Invasive Surgical Procedures , Nail Diseases , Skin Neoplasms , Humans , Male , Minimally Invasive Surgical Procedures/methods , Nail Diseases/surgery , Nail Diseases/pathology , Nail Diseases/diagnosis , Nails/surgery , Nails/pathology , Neoplasms, Fibroepithelial/surgery , Neoplasms, Fibroepithelial/pathology , Neoplasms, Fibroepithelial/diagnosis , Skin Neoplasms/surgery , Skin Neoplasms/pathology , Skin Neoplasms/diagnosis , Adult
8.
Rev. senol. patol. mamar. (Ed. impr.) ; 36(4)oct.-dic. 2023. ilus
Article in Spanish | IBECS | ID: ibc-226738

ABSTRACT

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)


Subject(s)
Humans , Female , Adolescent , Neoplasms, Fibroepithelial/diagnosis , Neoplasms, Fibroepithelial/surgery , Biopsy, Large-Core Needle , Neoplasms, Fibroepithelial/pathology , Fibroadenoma , Diagnosis, Differential
9.
Cutis ; 111(1): E26-E30, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36947778

ABSTRACT

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.


Subject(s)
Brain Neoplasms , Carcinoma, Basal Cell , Neoplasms, Fibroepithelial , Skin Neoplasms , Humans , Retrospective Studies , Neoplasms, Fibroepithelial/diagnosis , Neoplasms, Fibroepithelial/pathology , Carcinoma, Basal Cell/pathology , Skin Neoplasms/diagnosis , Skin Neoplasms/pathology
10.
Zhonghua Bing Li Xue Za Zhi ; 52(2): 153-159, 2023 Feb 08.
Article in Chinese | MEDLINE | ID: mdl-36748136

ABSTRACT

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.


Subject(s)
Breast Neoplasms , Fibroadenoma , Neoplasms, Fibroepithelial , Phyllodes Tumor , Telomerase , Humans , Adult , Middle Aged , Aged , Female , Neoplasms, Fibroepithelial/pathology , Phyllodes Tumor/diagnosis , Phyllodes Tumor/genetics , Stromal Cells , Fibroadenoma/diagnosis , Fibroadenoma/genetics , Fibroadenoma/pathology , Breast Neoplasms/diagnosis , Breast Neoplasms/genetics , Breast Neoplasms/pathology , Mutation , Telomerase/genetics
12.
Arch Pathol Lab Med ; 147(1): 38-45, 2023 01 01.
Article in English | MEDLINE | ID: mdl-35776911

ABSTRACT

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.


Subject(s)
Breast Neoplasms , Fibroadenoma , Neoplasms, Fibroepithelial , Phyllodes Tumor , Child , Humans , Female , Phyllodes Tumor/pathology , Fibroadenoma/diagnosis , Fibroadenoma/pathology , Diagnosis, Differential , Breast/pathology , Breast Neoplasms/diagnosis , Breast Neoplasms/pathology , Neoplasms, Fibroepithelial/diagnosis , Neoplasms, Fibroepithelial/pathology
13.
Chinese Journal of Pathology ; (12): 153-159, 2023.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-970150

ABSTRACT

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.


Subject(s)
Humans , Adult , Middle Aged , Aged , Female , Neoplasms, Fibroepithelial/pathology , Phyllodes Tumor/genetics , Stromal Cells , Fibroadenoma/pathology , Breast Neoplasms/pathology , Mutation , Telomerase/genetics
14.
Pathologica ; 114(2): 111-120, 2022 Apr.
Article in English | MEDLINE | ID: mdl-35414723

ABSTRACT

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.


Subject(s)
Breast Neoplasms , Neoplasms, Fibroepithelial , Phyllodes Tumor , Breast/diagnostic imaging , Breast/pathology , Breast/surgery , Breast Neoplasms/diagnosis , Breast Neoplasms/pathology , Breast Neoplasms/surgery , Female , Humans , Neoplasm Recurrence, Local/pathology , Neoplasms, Fibroepithelial/pathology , Phyllodes Tumor/diagnosis , Phyllodes Tumor/pathology , Phyllodes Tumor/surgery
15.
J Pediatr Adolesc Gynecol ; 35(4): 501-504, 2022 Aug.
Article in English | MEDLINE | ID: mdl-35123056

ABSTRACT

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.


Subject(s)
Neoplasms, Fibroepithelial , Polyps , Skin Neoplasms , Vulvar Diseases , Vulvar Neoplasms , Adult , Female , Humans , Neoplasms, Fibroepithelial/diagnosis , Neoplasms, Fibroepithelial/pathology , Neoplasms, Fibroepithelial/surgery , Polyps/diagnostic imaging , Polyps/pathology , Polyps/surgery , Skin Neoplasms/pathology , Vulva/pathology , Vulva/surgery , Vulvar Diseases/pathology , Vulvar Neoplasms/diagnostic imaging , Vulvar Neoplasms/surgery , Young Adult
16.
Virchows Arch ; 480(1): 45-63, 2022 Jan.
Article in English | MEDLINE | ID: mdl-34505197

ABSTRACT

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.


Subject(s)
Breast Neoplasms , Fibroadenoma , Neoplasms, Fibroepithelial , Phyllodes Tumor , Breast/pathology , Breast Neoplasms/pathology , Female , Fibroadenoma/diagnosis , Fibroadenoma/genetics , Fibroadenoma/pathology , Humans , Neoplasms, Fibroepithelial/diagnosis , Neoplasms, Fibroepithelial/pathology , Phyllodes Tumor/pathology
17.
Pan Afr Med J ; 39: 276, 2021.
Article in English | MEDLINE | ID: mdl-34754353

ABSTRACT

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.


Subject(s)
Neoplasms, Fibroepithelial/diagnosis , Polyps/diagnosis , Tonsillar Neoplasms/diagnosis , Aged , Diagnosis, Differential , Female , Humans , Neoplasms, Fibroepithelial/pathology , Neoplasms, Fibroepithelial/surgery , Palatine Tonsil/pathology , Palatine Tonsil/surgery , Polyps/pathology , Polyps/surgery , Tonsillar Neoplasms/pathology , Tonsillar Neoplasms/surgery , Tonsillectomy
18.
Pathol Int ; 71(12): 814-822, 2021 Dec.
Article in English | MEDLINE | ID: mdl-34597441

ABSTRACT

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.


Subject(s)
Biomarkers, Tumor/genetics , Breast Neoplasms/genetics , Mediator Complex/genetics , Neoplasm Recurrence, Local/genetics , Neoplasms, Fibroepithelial/genetics , Telomerase/genetics , Adolescent , Adult , Aged , Breast Neoplasms/pathology , Female , Follow-Up Studies , Genotype , Humans , Middle Aged , Mutation , Neoplasm Recurrence, Local/pathology , Neoplasms, Fibroepithelial/pathology , Phyllodes Tumor/genetics , Phyllodes Tumor/pathology , Promoter Regions, Genetic
19.
BMJ Case Rep ; 14(1)2021 Jan 11.
Article in English | MEDLINE | ID: mdl-33431442

ABSTRACT

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.


Subject(s)
Neoplasms, Fibroepithelial/diagnosis , Polyps/diagnosis , Pregnancy Complications, Neoplastic/diagnosis , Uterine Hemorrhage/etiology , Vulvar Neoplasms/diagnosis , Cesarean Section , Female , Humans , Infant, Newborn , Neoplasms, Fibroepithelial/complications , Neoplasms, Fibroepithelial/pathology , Neoplasms, Fibroepithelial/surgery , Polyps/complications , Polyps/pathology , Polyps/surgery , Pregnancy , Pregnancy Complications, Neoplastic/pathology , Pregnancy Complications, Neoplastic/surgery , Pregnancy Trimester, Third , Treatment Outcome , Uterine Hemorrhage/surgery , Vulva/pathology , Vulva/surgery , Vulvar Neoplasms/complications , Vulvar Neoplasms/pathology , Vulvar Neoplasms/surgery , Young Adult
20.
Am J Dermatopathol ; 43(10): 721-726, 2021 Oct 01.
Article in English | MEDLINE | ID: mdl-33395042

ABSTRACT

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.


Subject(s)
Adenocarcinoma/pathology , Anus Neoplasms/pathology , Neoplasms, Fibroepithelial/pathology , Paget Disease, Extramammary/pathology , Rectal Neoplasms/pathology , Skin Neoplasms/pathology , Aged , Aged, 80 and over , Anal Canal/pathology , Female , Humans , Male , Middle Aged , Mucins/metabolism , Paget Disease, Extramammary/metabolism , Skin Neoplasms/metabolism
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