[Epidemiological features papillomatosis of the larynx in adults: a literature review]. / Epidemiologicheskie osobennosti papillomatoza gortani u vzroslykh (obzor literatury).

The literature review presents current data on the epidemiology, drug, and surgical treatment of laryngeal papillomatosis in adults. Possible prospects for further study of the prevalence and incidence of the disease and provoking factors of recurrence of the disease for the development of possible preventive measures are considered.

Multiple Onychopapillomas and BAP1 Tumor Predisposition Syndrome.

Importance: BRCA1-associated protein (BAP1) tumor predisposition syndrome (TPDS) is a cancer genodermatosis associated with high risk of uveal and cutaneous melanoma, basal cell carcinoma, and multiple internal malignant neoplasms, including mesothelioma and renal cell carcinoma. Early detection of the syndrome is important for cancer surveillance and genetic counseling of family members who are at risk. Objective: To determine the prevalence of nail abnormalities in individuals with pathogenic germline variants in BAP1. Design, Setting, and Participants: In this prospective cohort study, individuals who were known carriers of pathogenic BAP1 germline variants were consecutively enrolled between October 10, 2023, and March 15, 2024. Dermatologic evaluation for nail abnormalities was performed, including a history of nail abnormalities and associated symptoms, physical examination, medical photography, and nail biopsy for histopathology. This was a single-center study conducted at the National Institutes of Health Clinical Center. Main Outcomes and Measures: Primary outcomes were the prevalence and spectrum of nail changes and histopathologic characterization. Results: Among 47 participants (30 female [63.8%]; mean [SD] age, 46.4 [15.1] years) ranging in age from 13 to 72 years from 35 families, nail abnormalities were detected in 41 patients (87.2%) and included leukonychia, splinter hemorrhage, onychoschizia, and distal nail hyperkeratosis. Clinical findings consistent with onychopapilloma were detected in 39 patients (83.0%), including 35 of 40 individuals aged 30 years or older (87.5%). Nail bed biopsy was performed in 5 patients and was consistent with onychopapilloma. Polydactylous involvement with onychopapillomas was detected in nearly all patients who had nail involvement (38 of 39 patients [97.4%]). Conclusions and Relevance: This study found that BAP1 TPDS was associated with a high rate of nail abnormalities consistent with onychopapillomas in adult carriers of the disease. Findings suggest that this novel cutaneous sign may facilitate detection of the syndrome in family members who are at risk and patients with cancers associated with BAP1 given that multiple onychopapillomas are uncommon in the general population and may be a distinct clue to the presence of a pathogenic germline variant in the BAP1 gene.

Juvenile Papillomatosis of the Breast: a Report of Two Cases with Review of the literature.

Background: Juvenile papillomatosis (JP) of the breast is a rare and benign proliferative disorder affecting young women. The affected patients tend to have an increased risk of breast cancer development during follow-up. Objective: This article aims to highlight a rare entity of breast disease, that harbor risk of breast cancer. Case Presentation: Here, we present 2 cases of JP in young females; the first case is a 13 year-old presented with spontaneous nipple discharge, while the other patient is a 24 year-old presented with a right breast lump. Both patients had a total excision of the breast lesions, revealing JP at histology. Discussion: Juvenile Papillomatosis is considered a clinicopathological entity and is usually misdiagnosed as fibroadenoma clinically and radiologically, which requires histological correlation. The histologic findings are well-defined (hyperplasia, papillomatosis, and multiple cysts with foamy histiocytes).The controversy in management between surgery and observation is because of insufficient knowledge about the direct relationship between JP and subsequent cancer. Conclusion: Considering the risk of developing breast cancer in JP, enrolling patients and their families in a close follow-up and surveillance program is crucial.

The Diagnostic Value of microRNA Expression Analysis in Detecting Intraductal Papillomas in Patients with Pathological Nipple Discharge.

Patients with pathological nipple discharge (PND) often undergo local surgical procedures because standard radiologic imaging fails to identify the underlying cause. MicroRNA (MiRNA) expression analysis of nipple fluid holds potential for distinguishing between breast diseases. This study aimed to compare miRNA expression levels between nipple fluids from patients with PND to identify possible relevant miRNAs that could differentiate between intraductal papillomas and no abnormalities in the breast tissue. Nipple fluid samples from patients with PND without radiological and pathological suspicion for malignancy who underwent a ductoscopy procedure were analyzed. We used univariate and multivariate regression analyses to identify nipple fluid miRNAs differing between pathologically confirmed papillomas and breast tissue without abnormalities. A total of 27 nipple fluid samples from patients with PND were included for miRNA expression analysis. Out of the 22 miRNAs examined, only miR-145-5p was significantly differentially expressed (upregulated) in nipple fluid from patients with an intraductal papilloma compared to patients showing no breast abnormalities (OR 4.76, p = 0.046), with a diagnostic accuracy of 92%. miR-145-5p expression in nipple fluid differs for intraductal papillomas and breast tissue without abnormalities and, therefore, has potential as a diagnostic marker to signal presence of papillomas in PND patients. However, further refinement and validation in clinical trials are necessary to establish its clinical applicability.

Papiloma escamoso oral, actualización literaria a propósito de un caso / Oral squamous papilloma, literary update regarding a case

En 1871, el cirujano Johann von Mikulicz Radecki, de la Universidad de Viena en Austria, introdujo por primera vez la descripción del papiloma escamoso; finalmente en 2002, se reclasificó como una familia independiente con un total de 29 genes, de los cuales cinco se asocian al papiloma humano. En 2021, el Centro Internacional de Referencia del Virus del Papiloma Humano del Instituto Karolinska reportó un total de 228 diferentes tipos de VPH (AU)

In 1871, the surgeon Johann von Mikulicz Radecki, from the University of Vienna in Austria, first introduced the description of squamous papilloma; finally, in 2002, it was reclassified as an independent family with a total of 29 genes, of which five are associated. to human papilloma. In 2021, the International Reference Center for Human Papillomavirus at the Karolinska Institute reported a total of 228 different types of HPV (AU)

Endobronchial Glandular Papilloma With Atypical Histologic Characteristics: A Case Report and Literature Review.

Papilloma of the lung is a rare benign entity and can be solitary or multiple. Solitary papilloma is subclassified into three categories: squamous papilloma, glandular papilloma, and mixed squamous and glandular papilloma. Glandular papilloma is the rarest subtype among them and occurs mostly in the sixth decade without any relation to smoking, syndrome, or infection. Histology is characterized by mixture of pseudostratified, columnar, nonciliated, mucinous epithelium-lined papillary fronds without any mitoses, necrosis, or atypia. The differential diagnosis can be broad depending upon the histologic features present in a particular case and may include both benign and malignant entities. We present here a patient with glandular endobronchial papilloma showing unusual clinical history and atypical histologic features, which required extensive immunohistochemical evaluation to establish a final diagnosis.

Peripheral ameloblastoma underlying squamous cell papilloma after a third molar extraction.

Peripheral ameloblastoma (PA) is a rare variant of ameloblastoma that presents as a slow-growing, painless mass in the gingival tissues or alveolar mucosa. It shares histologic features with conventional ameloblastoma but is less invasive and aggressive. This case report describes a 51-year-old female with a PA that simultaneously or subsequently developed underlying squamous cell papilloma after mandibular third molar extraction. Clinical examination revealed a pedunculated gingival lesion mimicking squamous cell papilloma. Histopathologic examination confirmed PA underlying squamous cell papilloma after an excisional biopsy. Imaging revealed mild bone resorption, leading to a further soft tissue excision and minimal osteoectomy to rule out intraosseous involvement. The patient remained asymptomatic without signs of recurrence in the 1-year follow-up. PA diagnosis can be challenging due to its clinical resemblance to other gingival lesions and histopathologic features. Treatment typically involves surgical excision, with long-term follow-up recommended due to possible recurrence and malignant transformation.

[Significance of TERT promoter mutation in differential diagnosis of non-invasive inverted urothelial lesions of bladder].

Objective: To investigate the gene mutation of telomerase reverse transcriptase (TERT) promoter in inverted urothelial lesions of the bladder and its significance in differential diagnosis. Methods: From March 2016 to February 2022, a total of 32 patients with inverted urothelial lesions diagnosed in Department of Pathology at Qingdao Chengyang People's Hospital and 24 patients at the Affiliated Hospital of Qingdao University were collected, including 7 cases of florid glandular cystitis, 13 cases of inverted urothelial papilloma, 8 cases of inverted urothelial neoplasm with low malignant potential, 17 cases of low-grade non-invasive inverted urothelial carcinoma, 5 cases of high-grade non-invasive inverted urothelial carcinoma, and 6 cases of nested subtype of urothelial carcinoma were retrospectively analyzed for their clinical data and histopathological features. TERT promoter mutations were analyzed by Sanger sequencing in all the cases. Results: No mutations in the TERT promoter were found in the florid glandular cystitis and inverted urothelial papilloma. The mutation rates of the TERT promoter in inverted urothelial neoplasm with low malignant potential, low grade non-invasive inverter urothelial carcinoma, high grade non-invasive inverted urothelial carcinoma and nested subtype urothelial carcinoma were 1/8, 8/17, 2/5 and 6/6, respectively. There was no significant difference in the mutation rate of TERT promoter among inverted urothelial neoplasm with low malignant potential, low-grade non-invasive inverted urothelial carcinoma, and high-grade non-invasive inverted urothelial carcinoma (P>0.05). All 6 cases of nested subtype of urothelial carcinoma were found to harbor the mutation, which was significantly different from inverted urothelial neoplasm with low malignant potential and non-invasive inverted urothelial carcinoma (P<0.05). In terms of mutation pattern, 13/17 of TERT promoter mutations were C228T, 4/17 were C250T. Conclusions: The morphology combined with TERT promoter mutation detection is helpful for the differential diagnosis of bladder non-invasive inverted urothelial lesions.

Swiss cheese disease: A rare case of juvenile papillomatosis of the breast mimicking carcinoma in a young female.

Juvenile papillomatosis is a rare benign proliferative lesion of breast seen in young females. These patients have been reported to have a strong family history for carcinoma breast. It is rarely diagnosed preoperatively but has distinct histopathological features on postoperative examination. The subsequent treatment and prognosis vary accordingly. Here, we report a case of a 38-year-old female who was operated with a preliminary diagnosis of Mucinous carcinoma of left breast.

Biliary papillomatosis.

Biliary papillomatosis (BP) is a rare disorder of the biliary tract characterized by the presence of multiple papillary adenomas spread along the biliary tree. Although benign, it carries a significant risk of malignant transformation. Due to low sensitivity and specificity of conventional radiologic modalities, the diagnosis as well as estimation of disease extent is difficult. Endoscopic ultrasound (EUS) and endoscopic retrograde cholangiopancreaticography (ERCP) are superior although direct peroral cholangioscopy (POC) is currently the most accurate diagnostic method. Mainly because it provides more detailed information and makes targeted histological diagnosis possible. The treatment of biliary papillomatosis consists of surgical resection, liver transplantation (LT) or a combination of both. Unfortunately, the recurrence rate after radical surgery without LT remains high due to the diffuse distribution of the disease.

A rare case: Endobronchial solitary mixed papilloma.

Endobronchial solitary papillomas are extremely rare lung neoplasms originating from the bronchial surface epithelium. They often present with cough or recurrent hemoptysis. These tumors are benign, but they should be followed closely because they may even have a low probability of malignant transformation features. It should be kept in mind that malignancy may develop especially if the patient is a smoker. Although the etiology is not known for certain, it is thought to be caused by human papillomavirus in some cases. A 43-year-old male patient was admitted with a complaint of chronic cough. Rigid bronchoscopy was performed for diagnostic and therapeutic purposes after imaging techniques revealed a lesion obstructing the lumen of the right main bronchus. The pathology result was reported as mixed bronchial papilloma. We aimed to present our case because of its rarity and to indicate that chronic cough must be further evaluated.

Recurrent laryngeal papillomatosis with pulmonary involvement: case report. / Papilomatosis laringea recurrente con compromiso pulmonar: reporte de caso.

Recurrent respiratory papillomatosis is a neoplastic disease caused by the human papillomavirus and characterized by the growth of exophytic proliferative lesions affecting the mucosa of the respiratory tract. This condition has a bimodal age distribution; the juvenile form affects those under 20 years of age, is more aggressive and presents multiple papillomatous lesions and high frequency of recurrence, compared to the adult form. Pulmonary involvement is rare and challenging to treat. We present the case of a 13-year-old male with a history of laryngeal papillomatosis since the age of two years. The patient showed respiratory distress and multiple stenosing nodules in the larynx and trachea, as well as several pulmonary cysts identified on chest CT. The patient underwent excision of the papillomatous lesions and tracheostomy. Then, the patient received a single dose of intravenous bevacizumab 400 mg and respiratory therapies with favorable evolution, without recurrences during follow-up.

La papilomatosis respiratoria recurrente es una enfermedad neoplásica causada por el virus del papiloma humano y caracterizada por el crecimiento de lesiones proliferativas exofíticas que afectan la mucosa de las vías respiratorias. En su epidemiología se presenta una distribución bimodal, con una forma juvenil en menores de 20 años, más agresiva, con múltiples lesiones papilomatosas y alta frecuencia de recurrencia, en comparación con la forma adulta. El compromiso pulmonar es poco frecuente y su manejo es un desafío. Se presenta el caso de un varón de 13 años con antecedente de papilomatosis laríngea desde los dos años. El paciente mostró dificultad respiratoria y múltiples nódulos estenosantes en laringe y tráquea, y varios quistes pulmonares visualizados en la tomografía de tórax. Se le realizó exéresis de las lesiones papilomatosas y traqueostomía. Recibió dosis única de bevacizumab 400 mg intravenoso y terapias respiratorias con evolución favorable, sin recurrencias en el seguimiento.

Malignant transformation of a solitary tracheal papilloma in the absence of human papillomavirus infection in a patient with 48, XYYY syndrome: case report.

The diagnosis and management of tracheobronchial papilloma is challenging due to its rarity, and non-specific presenting symptoms. Small percentage undergoes malignant transformation. Herein, we report an unusual case of tracheal papilloma initially misdiagnosed as chronic obstructive pulmonary disease (COPD) in 36-year-old male with triple Y syndrome. It was successfully treated with local debridement and brachytherapy. To the best of our knowledge, this is the first description of brachytherapy for such a condition.