[Main Types of Cysts in Dermatopathology: Part 2]. / Principales tipos de quistes en dermatopatología: Parte 2.

This is the second article in a two-part series published in this journal, in which we examine the histopathological characteristics, as well as the differential diagnosis, of the main entities that present as cystic and pseudocystic structures in cutaneous biopsy. In this second article, we address ciliated cutaneous cysts, branchial cysts, Bartholin's cysts, omphalomesenteric cysts, thymic cysts, thyroglossal duct cysts, synovial cysts, and median raphe cysts, as well as mucocele, ganglion, and auricular and digital myxoid pseudocysts.

Agregación familiar en el síndrome de colon irritable en pacientes mexicanos. Un estudio de casos y controles / Familial aggregation in Irritable Colon Syndrome in Mexican patients. A case-control study

Objetivo: Determinar la existencia de un patrón familiar de agregación del síndrome de intestino irritable (SII). Diseño: Es un estudio de casos y controles con proporción 1:2, llevado a cabo en una consulta externa de medicina general-familiar. Participantes: Hombres y mujeres de 18 a 60 años. Participaron 40 casos con SII de acuerdo con criterios de Roma IV, y 80 controles integrados por familiares sin alguna enfermedad gastrointestinal. Las mediciones principales fueron variables sociodemográficas, algún evento estresante relacionado, patrón evacuatorio predominante y patrón de repetición familiar para SII. Se analizaron los datos con estadísticas descriptivas e inferenciales. X2 para datos categóricos, estimación de odds ratio (OR) con intervalo de confianza (IC) 95%. Fue aprobado por el comité de ética institucional. Resultados: Hubo repetición del patrón de presentación del SII en familiares principalmente de primer grado. Fue mayor el riesgo de padecer este síndrome cuando el padre lo reportó (OR de 11,2; IC 95% 2-100,1), que cuando la madre lo presentó (OR 3,7; IC 95% 1,4-9,9), o hermano(a) (OR 2,8; IC 95% 1,1-6,6). En ambos grupos, el familiar que más frecuentemente presentaba SII fue en la línea colateral (hermano/a) (37,5% en los casos vs. 17,5% en los controles [p=0,023]). En ambos grupos el género predominante fue el femenino con 80,0% en los casos y 57,5% en los controles. Conclusión: Existe en la población mexicana un patrón de agregación familiar. La enfermedad es más frecuente en familiares en primer grado. Es importante dilucidar si quien desempeña el rol más importante en SII es el trasfondo genético o el entorno familiar.(AU)

Objective: To determine a family aggregation pattern of Irritable Bowel Syndrome (IBS). Design: it is a case-control study with a 1.2 ratio. Setting. External consultation of a general family medicine practice. Participants: men and women from 18 to 60 years old. Cases (40): people with IBS according to the Rome IV criteria, and Controls (80): relatives without gastrointestinal disease. Main measurements. Sociodemographic variables, related stressful events, predominant evacuation patterns, and family repetition patterns for IBS. Data were analyzed with descriptive and inferential statistics. Chi-square for categorical data (< p.05 as significant) estimate of ORs with 95% confidence interval. The institutional ethics committee approved it. Results: The IBS presentation pattern was repeated in relatives, mainly first-degree. The risk of suffering from IBS was higher when the father reported it (OR 11.2 (95% CI; 1.2 -100.1), than the mother OR 3,7 (95% CI; 1.4 – 9.9), sibling OR 2.8 (95% CI; 1.1 – 6.6. In both groups, the relative who most frequently presented IBS was in the collateral line (sibling) (37.5% in cases vs. 17.5% in controls (p=0.023). In both groups, the predominant gender was female, with 80. 0% in cases and 57.5% in controls. Conclusion: SII has a familial recurrence pattern in the Mexican population. The disease is more frequent in first-degree relatives. It is important to elucidate the importance of the role that plays genetic background vs. the influence of the family environment in SII.(AU)

[Main Types of Cysts in Dermatopathology: Part 1]. / Principales tipos de quistes en dermatopatología: parte 1.

Cystic structures represent one of the most common findings in dermatopathology. These encompass both cystic tumors and pseudocysts resulting from the accumulation of certain substances, such as mucin. In a two-part series (of which this is the first part), we have reviewed the principal types of cysts and pseudocysts that may be observed in cutaneous biopsies, examining their histopathological features and primary differential diagnoses. This first part encompasses infundibular cysts, eruptive dermoid cysts, pigmented follicular cysts, pilonidal cysts, tricholemmal cysts, milium cysts, hybrid cysts, bronchogenic cysts, as well as steatocystoma, hydrocystoma, and comedones.

Retrospective Case Series of Cocaine-Associated Plasma Cell Orificial Mucositis.

Importance: Plasma cell orificial mucositis (PCOM) associated with cocaine use is an emerging, rare condition that has become a concern in Spain in recent years. Limited knowledge exists regarding this novel condition. Objectives: To delineate the clinicopathologic characteristics of this emerging entity and establish a novel approach in the differential diagnosis of cocaine-associated lesions. Design, Setting, and Participants: A descriptive, retrospective, multicenter case series of 10 patients diagnosed with cocaine-associated PCOM was conducted in Spain from April 2020 to March 2023. Main Outcomes and Measures: Patient demographic, clinical, histopathologic, and treatment data were collected. Results: A total of 10 patients (6 [60%] male; median [range] age, 45.5 [36-66] years) presenting with exudative ulcerated plaques were identified for this study. The lesions had raised and erythematous edges over the nostril and a median (range) evolution time of 9 (2-24) months. Septal or palate perforations were observed in 4 (40%) of the patients. Biopsies revealed a dense inflammatory infiltrate of plasma cells in the dermis without atypia and with eosinophils. All patients reported recent cocaine use. Three urine tests detected cocaine but found no presence of amphetamines or opiates. Six patients improved with corticosteroid therapy. Up to 60% of patients were lost to follow-up. Conclusions and Relevance: This case series describes the clinicopathologic characteristics of PCOM, an emerging entity associated with cocaine use in Spain, and demonstrates a novel approach in the differential diagnosis of cocaine-associated lesions. To date, cocaine-associated skin lesions have been reported as neutrophilic dermatoses and vasculitis. The appearance of a plasma cell infiltrate changes what has been described in the medical literature so far. PCOM is a benign condition of unknown cause characterized by a proliferative polyclonal plasma cell infiltrate. A comprehensive differential diagnosis workup is required to reach this exclusionary diagnosis. Several irritants have been documented in cases of PCOM, and a hypersensitivity mechanism has been proposed. Since the initial report of cocaine-associated PCOM in Spain, its incidence has experienced a surge in the country. The cause of this phenomenon may be attributed to newly unidentified adulterants. The administration of corticosteroids and discontinuation of cocaine use are the sole treatments that have demonstrated efficacy. Clinicians should be vigilant regarding this emerging condition and conduct inquiries into cocaine use. Additional research is required to clarify the pathophysiology of this emerging condition.

[Familial aggregation in Irritable Colon Syndrome in Mexican patients. A case-control study]. / Agregación familiar en el síndrome de colon irritable en pacientes mexicanos. Un estudio de casos y controles.

OBJECTIVE: To determine a family aggregation pattern of Irritable Bowel Syndrome (IBS). DESIGN: it is a case-control study with a 1.2 ratio. SETTING: External consultation of a general family medicine practice. PARTICIPANTS: men and women from 18 to 60 years old. Cases (40): people with IBS according to the Rome IV criteria, and Controls (80): relatives without gastrointestinal disease. MAIN MEASUREMENTS: Sociodemographic variables, related stressful events, predominant evacuation patterns, and family repetition patterns for IBS. Data were analyzed with descriptive and inferential statistics. Chi-square for categorical data (< p.05 as significant) estimate of ORs with 95% confidence interval. The institutional ethics committee approved it. RESULTS: The IBS presentation pattern was repeated in relatives, mainly first-degree. The risk of suffering from IBS was higher when the father reported it (OR 11.2 (95% CI; 1.2 -100.1), than the mother OR 3,7 (95% CI; 1.4 - 9.9), sibling OR 2.8 (95% CI; 1.1 - 6.6. In both groups, the relative who most frequently presented IBS was in the collateral line (sibling) (37.5% in cases vs. 17.5% in controls (p=0.023). In both groups, the predominant gender was female, with 80. 0% in cases and 57.5% in controls. CONCLUSION: SII has a familial recurrence pattern in the Mexican population. The disease is more frequent in first-degree relatives. It is important to elucidate the importance of the role that plays genetic background vs. the influence of the family environment in SII.

Machine Learning Quantification of Intraepithelial Tumor-Infiltrating Lymphocytes as a Significant Prognostic Factor in High-Grade Serous Ovarian Carcinomas.

The prognostic and predictive role of tumor-infiltrating lymphocytes (TILs) has been demonstrated in various neoplasms. The few publications that have addressed this topic in high-grade serous ovarian carcinoma (HGSOC) have approached TIL quantification from a semiquantitative standpoint. Clinical correlation studies, therefore, need to be conducted based on more accurate TIL quantification. We created a machine learning system based on H&E-stained sections using 76 molecularly and clinically well-characterized advanced HGSOC. This system enabled immune cell classification. These immune parameters were subsequently correlated with overall survival (OS) and progression-free survival (PFI). An intense colonization of the tumor cords by TILs was associated with a better prognosis. Moreover, the multivariate analysis showed that the intraephitelial (ie) TILs concentration was an independent and favorable prognostic factor both for OS (p = 0.02) and PFI (p = 0.001). A synergistic effect between complete surgical cytoreduction and high levels of ieTILs was evidenced, both in terms of OS (p = 0.0005) and PFI (p = 0.0008). We consider that digital analysis with machine learning provided a more accurate TIL quantification in HGSOC. It has been demonstrated that ieTILs quantification in H&E-stained slides is an independent prognostic parameter. It is possible that intraepithelial TIL quantification could help identify candidate patients for immunotherapy.

Next-generation sequencing of uveal melanoma with clinical and histological correlations: Prognostic value of new mutations in the PI3K/AKT/mTOR pathway.

BACKGROUND: Uveal melanoma (UM) is the eye's most common primary malignancy and there are no effective therapies for disseminated disease. It is important to try to know the patient's prognosis. The aim of this study was to reflect genetic variants, studied using NGS, of a series of 69 cases of UM and its correlation with histopathology and clinical progression. METHODS: We performed targeted NGS using a 519-gene panel. RESULTS: There were selected 28 different mutated genes, showing a total of 231 genetic variants that affected the function of the protein. The most common secondary mutations occurred in SF3B1 (in 26%), followed by BAP1 (in 23%), LRP1B (22%) and FGFR4 (20%). BAP1 mutation was associated with a greater likelihood of metastases and with greater presence of epithelioid cells. LRP1B was also associated with presence of epithelioid cells SF3B1 mutation was significantly associated with a spindle morphology. We found variants in the RAD51B, TOP2A, PTPRD, TSC2, DHX9, PDK1 and MTOR that have not been previously reported in consulted databases. The presence of a mutation in: CHEK2, DHX9 and PDK1 was associated with metastases. CONCLUSIONS: BAP1 is the most solid biomarker of a poor prognosis in UM and mutations can be detected using NGS. SF3B1 is associated with the spindle cell subtype of UM, which gives it probably a favourable prognostic value. Our study suggests that mutations in DHX9 and PDK1 can have prognostic value. These potential biomarkers are related to the PI3K/AKT/mTOR pathway and makes them candidates for developing new directed therapies.

Using DNA barcoding to link cystacanths and adults of the acanthocephalan Corynosoma australe of the Southeastern Pacific Ocean (off Peru coast).

The objective of this study is to use DNA barcoding to link cystacanths and adults belonging to the acanthocephalans Corynosoma australe found in the Southeastern Pacific Ocean off the coast central from Peru. We sampled three species of commercial fish (Paralichthys adspersus (Steindachner), Paralabrax humeralis (Valenciennes), and Cheilodactylus variegatus (Valenciennes)) and two South American sea lions, Otaria byronia, stranded on the beaches of the city of Huacho and Barranca, Lima province. A total of 509 acanthocephalan larvae were found in the body cavity of 95 fish (prevalence 54.28%, total mean intensity 8.64). A total of 127 adult worms were found in the large intestine from two South American sea lions (P= 100%, MI= 63.5). A total of 203 larvae from P. humeralis were isolates (P=65.71%; MI= 8.83; MA=5.8), 235 (P=54.29%; MI= 12.37; MA= 6.71) from C. variegatus, and 71 (P=42.86%; MI= 4.73; MA= 2.03) from P. adspersus. All adult and larval specimens were morphologically identified as C. australe. They were generated cytochrome c oxidase subunit 1 (cox1) gene sequences of specimens and were compared with available data from GenBank. Molecular phylogenetic analysis supported our morphological identification, where the Peruvian isolates formed a clade with other isolates of C. australe from other countries of the American continent. Of the sequences obtained, two haplotypes were detected and were not identical with previous reports. Based on both DNA barcoding and morphological analyses, our finding represents the first molecular data of C. australe from Peru and the report of Cheilodactylus variegatus as a new paratenic host on the central coast, extending the knowledge and distribution range of this acanthocephalan in Southeastern Pacific Ocean.

Difficult to Diagnose Cutaneous Melanoma in a Patient with BAP1 Tumor Predisposition Syndrome.

BRCA1-associated protein 1 (BAP1)-inactivated melanomas can occur sporadically or in germline contexts, particularly in recently recognized BAP1-tumor predisposition syndrome. Diagnosis represents a clinical and histopathological challenge, requiring comprehensive analysis of morphology and sometimes molecular analysis in addition to immunohistochemistry. We report a BAP1-inactivated cutaneous melanoma initially diagnosed as an atypical Spitz tumor on the auricle in a patient with BAP1-tumor predisposition syndrome. Immunohistochemistry, fluorescence in situ hybridization, and comparative genomic hybridization allowed diagnosis. Cutaneous BAP1-inactivated melanocytic tumors, previously classified as atypical Spitz Nevi, may have a dermal mitotic activity that can resemble melanoma and on the other hand, atypical Spitz tumors are sometimes difficult to differentiate from BAP1-inactivated melanoma. Specific criteria, requiring molecular diagnosis have been proposed in order to support melanoma diagnosis.