Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 320
Filter
1.
J Med Case Rep ; 18(1): 466, 2024 Sep 27.
Article in English | MEDLINE | ID: mdl-39334512

ABSTRACT

INTRODUCTION AND IMPORTANCE: Fibroepithelial polyps are rare benign lesions with uncertain origins. They are commonly found in the skin and genitourinary system. Fibroepithelial polyps in the external auditory canal are infrequent. CASE PRESENTATION: We report a 60-year-old Persian woman with an incidentally discovered painless fibroepithelial polyp in the right external auditory canal. Microscopic transcanal surgery confirmed the diagnosis after temporal computed tomography imaging showed a soft tissue mass. CLINICAL DISCUSSION: Fibroepithelial polyps have an uncertain etiology and are typically asymptomatic. Surgical resection is the preferred treatment, and the prognosis following resection is generally favorable, with low recurrence rates. CONCLUSION: This case highlights the rarity of fibroepithelial polyps in the external auditory canal and underscores the importance of considering them in the differential diagnosis of external auditory canal lesions.


Subject(s)
Ear Canal , Polyps , Tomography, X-Ray Computed , Humans , Female , Middle Aged , Ear Canal/pathology , Ear Canal/diagnostic imaging , Ear Canal/surgery , Polyps/pathology , Polyps/surgery , Polyps/diagnostic imaging , Ear Neoplasms/pathology , Ear Neoplasms/surgery , Ear Neoplasms/diagnostic imaging , Ear Neoplasms/diagnosis , Neoplasms, Fibroepithelial/pathology , Neoplasms, Fibroepithelial/surgery , Neoplasms, Fibroepithelial/diagnosis , Diagnosis, Differential , Incidental Findings
2.
J Cancer Res Clin Oncol ; 150(9): 436, 2024 Sep 28.
Article in English | MEDLINE | ID: mdl-39340595

ABSTRACT

BACKGROUND: Fibroepithelial lesions (FEL) are a heterogeneous group of biphasic tumours that include fibroadenomas (FA) and the rare entity of benign phyllodes tumors (PT) as well as cases where distinction between these two entities is not possible. The histologic distinction between benign PT and cellular FA is still a diagnostic challenge, especially in core-needle biopsy (CNB) or vacuum-assisted biopsy (VAB). Guidelines are not clearly established regarding the management of FEL in CNB or VAB. In this study, we addressed the frequency of B3 FEL diagnosed in CNB or VAB and compared the final histopathological findings in the excision specimens to evaluate up- or downgrading. METHODS: We identified 117 female patients with the preoperative diagnosis of FEL (B3), PT, or FEL in combination of pure epithelial B3 lesions in CNB or VAB. Clinico-pathological information as well as data on subsequent surgical excision were available for all patients. RESULTS: PT was diagnosed in 9 (14.8%) and FEL (B3) in 52 (85.2%) cases. Additionally, 56 patients with FA in combination with an additional B3 lesion were identified. Most FEL (B3)/PT initial diagnoses were made in CNB (55.6% of PT; 84.6% of FEL). After the initial biopsy, 7 of 9 (77.8%) patients with initial diagnosis of benign or borderline PT in CNB/VAB and 40 of 52 (77.0%) patients with initial diagnosis of FEL (B3) in CNB/VAB underwent open excision (OE). 4 of 9 cases (44.4%) initially diagnosed as PT were verified, whereas 2 of 9 (22.2%) were downgraded to FA. 20 of 52 cases (38.5%) initially diagnosed as FEL (B3) were downgraded to FA, whereas 11 of 52 cases (21.2%) were diagnosed as benign or borderline PT. One FEL (B3) case was upgraded to malignant PT. CONCLUSION: Most PT and FEL (B3) diagnoses on CNB/VAB underwent surgical removal. In the final pathological findings of cases classified primarily as FEL (B3), the majority were downgraded to FA, one quarter were upgraded to PT, and a small subset remained as combined FA/PT. In clinical daily practice, we recommend individualized decision-making considering different options (clinical follow-up or removal of the lesion depending on the whole context) in a multidisciplinary preoperative conference.


Subject(s)
Breast Neoplasms , Fibroadenoma , Phyllodes Tumor , Humans , Female , Breast Neoplasms/pathology , Breast Neoplasms/surgery , Biopsy, Large-Core Needle/methods , Retrospective Studies , Middle Aged , Adult , Aged , Fibroadenoma/pathology , Fibroadenoma/surgery , Fibroadenoma/diagnosis , Phyllodes Tumor/pathology , Phyllodes Tumor/surgery , Young Adult , Vacuum , Adolescent , Breast/pathology , Breast/surgery , Neoplasms, Fibroepithelial/pathology , Neoplasms, Fibroepithelial/surgery , Neoplasms, Fibroepithelial/diagnosis
4.
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
5.
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
6.
Int J Dermatol ; 63(8): 1039-1040, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38572509

ABSTRACT

A 75-year-old Black man presented for evaluation of a skin lesion on his right shoulder. The lesion had been present for 3 months and was bleeding. A physical exam demonstrated a 2.7 cm exophytic, crusted, blue-to-purple plaque. A shave biopsy was performed, and histopathological examination revealed anastomosing strands of basaloid cells in the dermis, leading to a diagnosis of fibroepithelioma of pinkus (FeP). FeP is a rare variant of basal cell carcinoma. It typically presents as a solitary, pink, pedunculated papule on the lower back, but the presentation can vary. This case contributes to the scarce literature on the occurrence of FeP in skin of color populations. Here, we raise the possibility that FeP may present differently in skin of color patients compared to white patients. Greater clinician awareness can foster improved identification, management, and understanding of FeP in diverse populations.


Subject(s)
Shoulder , Skin Neoplasms , Aged , Humans , Male , Biopsy , Carcinoma, Basal Cell/pathology , Carcinoma, Basal Cell/diagnosis , Neoplasms, Fibroepithelial/pathology , Neoplasms, Fibroepithelial/diagnosis , Shoulder/pathology , Skin Neoplasms/pathology , Skin Neoplasms/diagnosis , Black or African American
7.
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
8.
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
9.
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
10.
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
11.
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
12.
Anal Chim Acta ; 1283: 341897, 2023 Dec 01.
Article in English | MEDLINE | ID: mdl-37977771

ABSTRACT

BACKGROUND: Breast fibroadenomas and phyllodes tumors are both fibroepithelial tumors with comparable histological characteristics. However, rapid and precise differential diagnosis is a tough point in clinical pathology. Given the tendency of phyllodes tumors to recur, the difficulty in differential diagnosis with fibroadenomas leads to the difficulty in optimal management for these patients. METHOD: In this study, we used Raman spectroscopy to differentiate phyllodes tumors from breast fibroadenomas based on the biochemical and metabolic composition and develop a classification model. The model was validated by 5-fold cross-validation in the training set and tested in an independent test set. The potential metabolic differences between the two types of tumors observed in Raman spectroscopy were confirmed by targeted metabolomic analysis using liquid chromatography-tandem mass spectrometry (LC-MS/MS). RESULTS: A total of 204 patients with formalin-fixed paraffin-embedded (FFPE) tissue samples, including 100 fibroadenomas and 104 phyllodes tumors were recruited from April 2014 to August 2021. All patients were randomly divided into the training cohort (n = 153) and the test cohort (n = 51). The Raman classification model could differentiate phyllodes tumor versus fibroadenoma with cross-validation accuracy, sensitivity, precision, and area under curve (AUC) of 85.58 % ± 1.77 %, 83.82 % ± 1.01 %, 87.65 % ± 4.22 %, and 93.18 % ± 1.98 %, respectively. When tested in the independent test set, it performed well with the test accuracy, sensitivity, specificity, and AUC of 83.50 %, 86.54 %, 80.39 %, and 90.71 %. Furthermore, the AUC was significantly higher for the Raman model than that for ultrasound (P = 0.0017) and frozen section diagnosis (P < 0.0001). When it came to much more difficult diagnosis between fibroadenoma and benign or small-size phyllodes tumor for pathological examination, the Raman model was capable of differentiating with AUC up to 97.45 % and 95.61 %, respectively. On the other hand, targeted metabolomic analysis, based on fresh-frozen tissue samples, confirmed the differential metabolites (including thymine, dihydrothymine, trans-4-hydroxy-l-proline, etc.) identified from Raman spectra between phyllodes tumor and fibroadenoma. SIGNIFICANCE AND NOVELTY: In this study, we obtained the molecular information map of breast phyllodes tumors provided by Raman spectroscopy for the first time. We identified a novel Raman fingerprint signature with the potential to precisely characterize and distinguish phyllodes tumors from fibroadenoma as a quick and accurate diagnostic tool. Raman spectroscopy is expected to further guide the precise diagnosis and optimal treatment of breast fibroepithelial tumors in the future.


Subject(s)
Breast Neoplasms , Fibroadenoma , Neoplasms, Fibroepithelial , Phyllodes Tumor , Humans , Female , Phyllodes Tumor/diagnosis , Phyllodes Tumor/metabolism , Phyllodes Tumor/pathology , Fibroadenoma/diagnosis , Fibroadenoma/metabolism , Fibroadenoma/pathology , Spectrum Analysis, Raman , Chromatography, Liquid , Tandem Mass Spectrometry , Breast Neoplasms/pathology
13.
J Cutan Pathol ; 50(12): 1094-1098, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37596842

ABSTRACT

BACKGROUND: Onychomatricoma is a nail neoplasm that usually presents as longitudinal nail plate thickening, involving either the partial or whole nail. Histopathologically, it is characterized by deep invaginations of the proliferating nail matrix and proliferation of CD34+ and CD10+ spindle cells with collagenous to myxoid stroma. Onychomatricoma has been considered a fibroepithelial neoplasm. Recently, RB1 loss has been verified using array comparative genomic hybridization. METHODS: This study investigated the RB1 status in onychomatricoma with morphological methods. RESULTS: Six patients with onychomatricoma were included in the study. RB1 status was assessed using immunohistochemical staining and fluorescence in situ hybridization. Immunohistochemical staining showed that all six cases experienced RB1 loss in the mesenchymal component of onychomatricoma but not in the proliferated nail matrix. Fluorescence in situ hybridization in five cases showed a monoallelic deletion of the RB1 locus in the mesenchymal component but not in the proliferated nail matrix. CONCLUSIONS: RB1 loss was observed only in the mesenchymal component of onychomatricoma. Our findings suggest that the proliferated nail matrix in onychomatricoma represents reactive hyperplasia of various degrees secondary to neoplastic mesenchymal proliferation. This indicates that onychomatricoma should be recognized as an RB1-deleted soft tissue neoplasm rather than a fibroepithelial neoplasm.


Subject(s)
Nail Diseases , Neoplasms, Fibroepithelial , Skin Neoplasms , Humans , Skin Neoplasms/genetics , In Situ Hybridization, Fluorescence , Comparative Genomic Hybridization , Nail Diseases/genetics , Ubiquitin-Protein Ligases , Retinoblastoma Binding Proteins
14.
Femina ; 51(8): 502-504, 20230830. ilus
Article in Portuguese | LILACS | ID: biblio-1512464

ABSTRACT

Fibroma mole, ou pólipo fibroepitelial, é uma lesão de proporções geralmente reduzidas, de cor hiperpigmentada ou igual à da pele, localizando-se frequentemente na face, pescoço, tronco e regiões intertriginosas. É um tumor classificado como benigno e pode acometer tanto homens quanto mulheres em idade reprodutiva e depois da quarta década de vida. Ocorre principalmente em obesos, diabéticos e durante a gestação. Com menor frequência, podem alcançar dimensões que excedem 5 cm. Seu crescimento pode ser lento ou rápido e comumente são assintomáticos, mas podem promover sangramentos por conta de ulcerações decorrentes de traumas repetidos. Apresentamos neste relato um fibroma mole, gigante, de localização vulvar, com 11 cm de comprimento, 11 cm de largura e 5 cm de espessura, pesando 500 g.


Giant soft vulvar fibroma is a fibroepithelial polyp lesion with generally reduced proportions, with a hyperpigmented color or similar to that of the skin, frequently located on the face, neck, trunk and intertriginous regions. It is a tumor classified as benign, can affect both men and women, of reproductive age and after the fourth decade, mainly obese, diabetic and during pregnancy. However, less frequently, they can reach dimensions that exceed 5 cm, may have a slow or accelerated evolution. They are commonly asymptomatic, but bleeding may be present due to ulcerations resulting from repeated trauma. In the current study, we describe a giant soft fibroma with a vulvar location measuring 11 cm in length, 11 cm in width, 5 cm in thickness and weighing 500 grams.


Subject(s)
Humans , Female , Adult , Fibroma/surgery , Fibroma/etiology , Gynecologic Surgical Procedures , Vulva/pathology , Vulvar Diseases/complications , Vulvar Neoplasms , Wounds and Injuries/complications , Case Reports , Stromal Cells/pathology , Neoplasms, Fibroepithelial/rehabilitation
15.
Histopathology ; 83(3): 357-365, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37140543

ABSTRACT

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.


Subject(s)
Breast Diseases , Breast Neoplasms , Fibroadenoma , Fibroma , Neoplasms, Fibroepithelial , Adolescent , Humans , Female , beta Catenin , Fibroadenoma/genetics , Fibroadenoma/pathology , Breast Diseases/pathology , Breast Neoplasms/pathology , Hyperplasia/genetics
16.
Pathology ; 55(4): 437-448, 2023 Jun.
Article in English | MEDLINE | ID: mdl-37085395

ABSTRACT

Phyllodes tumours of the breast are uncommon fibroepithelial neoplasms that pose recurrent classification challenges, in large part due to the multiple histological parameters of stromal hypercellularity and atypia, stromal mitotic count, stromal overgrowth and tumour borders, that are used for grading. While the World Health Organization (WHO) Classification of Breast Tumours provides recommendations on diagnostic features, defining criteria are not always applied in routine practice. Lack of concordance among pathologists in typing and grading further underscores the classification difficulties, especially in the borderline category. Although there has been significant molecular information on phyllodes tumours in recent years which has been diagnostically helpful, it has not been translated into daily clinical practice. In order to refine the classification of phyllodes tumours into one that is simple yet comprehensive, reproducible and prognostically precise, a multipronged approach is needed that leverages on global contributions of the International Fibroepithelial Consortium, support by the International Collaboration on Cancer Classification and Research (IC3 R) in amalgamating evidence translation, and guidance from the International Collaboration on Cancer Reporting (ICCR) for standardised reporting. It is hoped that the evidence generated can be used towards refining the classification of phyllodes tumours for the future.


Subject(s)
Breast Neoplasms , Fibroadenoma , Neoplasms, Fibroepithelial , Phyllodes Tumor , Humans , Female , Phyllodes Tumor/diagnosis , Phyllodes Tumor/pathology , Fibroadenoma/pathology , Breast/pathology , Breast Neoplasms/diagnosis
18.
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
19.
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
SELECTION OF CITATIONS
SEARCH DETAIL