Proposal for a standardized methodology for performing endobronchial ultrasound-guided mediastinal cryobiopsy: a four-step approach.

Endobronchial ultrasound (EBUS)-guided mediastinal cryobiopsy is a novel technique that increases the accuracy of diagnosing most pathologies that affect the mediastinum. Although EBUS-guided transbronchial needle aspiration (EBUS-TBNA) is the first choice in the diagnosis of mediastinal pathology, mediastinal cryobiopsy offers a larger and higher quality biopsy with minimal artifacts and no crushing when compared to conventional cytological samples obtained through EBUS-TBNA. It is particularly valuable in pathologies where EBUS-TBNA has diagnostic limitations, such as lymphoproliferative diseases, benign granulomatous conditions like sarcoidosis and silicosis, some rare infectious processes, metastases from rare non-pulmonary tumors, and in advanced stages of non-small cell lung cancer (NSCLC) where immunohistochemistry and molecular analysis are essential for personalized treatment. Therefore, mediastinal cryobiopsy seems to play a crucial role in these challenging scenarios. However, there is ongoing debate in the field of interventional pulmonology regarding the best approach for obtaining a mediastinal cryobiopsy. Some interventional pulmonologists use a high-frequency needle knife to create an incision in the tracheobronchial wall adjacent to the mediastinal lesion before inserting the cryoprobe, while others use a needle to create a pathway to the target area. There are also variations in the use of endoscopic or ultrasound imaging for guidance. In this article, we aim to review the current literature on different methods of performing mediastinal cryobiopsy and share our own clinical experience and methodology in a systematic way for its implementation in a safe, fast, and effective way.

Resident training in interventional pathology: Ultrasound-guided fine-needle aspiration and rapid on site evaluation-5 years of teaching experience in a single university hospital.

INTRODUCTION: Despite the established role of the interventional pathologist, their diagnostic performance is difficult to establish. At least in Spain training of pathology residents in ultrasound-guided interventional procedures for specimen collection is limited or absent in most institutions. We present our teaching experience in the instruction of ultrasound-guided fine-needle aspiration (FNA) to pathology residents in a tertiary-level hospital. MATERIALS AND METHODS: The training of pathology residents who rotated through the interventional unit of the pathology department and the application of ultrasound-guided FNA and rapid on-site evaluation (U-ROSE) was documented over 5 years. The training period was broken down into learning phases and included the number of ultrasound-guided FNA performed, anatomical location, and their diagnostic performance, among other aspects. RESULTS: Nineteen (19) pathology residents were trained in U-ROSE, and performed a total of 4003 procedures, with a mean of 211 per resident. In 53% of cases only one pass was required for an adequated sample. The specimen was diagnostic in more than 97% of cases. The most frequently sampled anatomical sites were the thyroid gland (n = 2347), followed by lymph node (n = 667), soft tissues (n = 663) and salivary glands (n = 322). CONCLUSION: The results support the training programme followed by pathology residents in learning U-ROSE, which is essential to lay the foundations for the future interventional pathologist.

Endobronchial ultrasound-guided transbronchial mediastinal cryobiopsy in the diagnosis of mediastinal lesions: safety, feasibility and diagnostic yield - experience in 50 cases.

Background: Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is the technique of choice in the study of mediastinal and hilar lesions; however, it can be affected by the insufficiency of intact biopsy samples, which might decrease its diagnostic yield for certain conditions, thus requiring re-biopsies or additional diagnostic procedures such as mediastinoscopy when the probability of malignancy remains high. Our objectives were to 1) attempt to reproduce this technique in the same conditions that we performed EBUS-TBNA, i.e. in the bronchoscopy suite and under moderate sedation; 2) describe the method used for its execution; 3) determine its feasibility by accessing different lymph node stations applying our method; and 4) analyse the diagnostic yield and its complications. Methods: This was a prospective study of 50 patients who underwent EBUS-TBNA and EBUS-guided transbronchial mediastinal cryobiopsy (TMC) in a single procedure using a 22-G TBNA needle and a 1.1-mm cryoprobe subsequently between January and August 2022. Patients with mediastinal lesions >1 cm were recruited, and EBUS-TBNA and TMC were performed in the same lymph node station. Results: The diagnostic yield was 82% and 96% for TBNA and TMC, respectively. Diagnostic yields were similar for sarcoidosis, while cryobiopsy was more sensitive than TBNA in lymphomas and metastatic lymph nodes. As for complications, there was no pneumothorax and in no case was there significant bleeding. There were no complications during the procedure or in the follow-up of these patients. Conclusions: TMC following our method is a minimally invasive, rapid and safe technique that can be performed in a bronchoscopy suite under moderate sedation, with a higher diagnostic yield than EBUS-TBNA, especially in cases of lymphoproliferative disorders and metastatic lymph nodes or when more biopsy sample is needed for molecular determinations.

Pleural metastasis from pulmonary primary signet-ring squamous cell carcinoma. Case report and literature review.

Signet-ring cells are morphologically defined by the presence of a large intracytoplasmic vacuole that compresses and displaces the nucleus to the periphery. In most cases, these cells are associated with adenocarcinomas of various locations, and with non-epithelial neoplasms. To date, less than 20 cases of squamous cell carcinoma with signet-ring morphology have been described, mainly located on the skin. We present the case of a 73-year-old male with pleural effusion and a left lower lobe mass. The cytological study of the pleural effusion allowed the diagnosis of metastasis of squamous cell carcinoma, signet-ring cell variant. The treatment of lung cancer in advanced stages requires a precise diagnosis that allows the best therapy to be offered to the patient, depending on the clinical stage and the positivity of the biomarkers, among others. Our patient died 18 months after the initial diagnosis.

[Lung clear cell tumor «sugar tumor¼. Unusual diagnostic neoplasm]. / Tumor de células claras «sugar tumor¼ pulmonar. Neoplasia de diagnóstico inusual.

Clear Cell «sugar tumor¼ of the lung is a rare nosological entity of which around 60 cases have been published in the scientific literature. Considered to be of mesenchymal origin, it presents a typical histochemical - immunohistochemical profile, positive PAS and melanic markers, which allows it to be differentiated from other more frequent neoplasms with worse prognosis. We present the case of a 56-year-old man with a clear cell lung tumor. Radiological, macro-microscopic and histochemistry - immunohistochemical characterization, as well as a brief review of the literature.

Classification of follicular-patterned thyroid lesions using a minimal set of epigenetic biomarkers.

Objective: The minimally invasive fine-needle aspiration cytology (FNAC) is the current gold standard for the diagnosis of thyroid nodule malignancy. However, the correct discrimination of follicular neoplasia often requires more invasive diagnostic techniques. The lack of suitable immunohistochemical markers to distinguish between follicular thyroid carcinoma and other types of follicular-derived lesions complicates diagnosis, and despite most of these tumours being surgically resected, only a small number will test positive for malignancy. As such, the development of new orthogonal diagnostic approaches may improve the accuracy of diagnosing thyroid nodules. Design: This study includes a retrospective, multi-centre training cohort including 54 fresh-frozen follicular-patterned thyroid samples and two independent, multi-centre validation cohorts of 103 snap-frozen biopsies and 33 FNAC samples, respectively. Methods: We performed a genome-wide genetic and epigenetic profiling of 54 fresh-frozen follicular-patterned thyroid samples using exome sequencing and the Illumina Human DNA Methylation EPIC platform. An extensive validation was performed using the bisulfite pyrosequencing technique. Results: Using a random forest approach, we developed a three-CpG marker-based diagnostic model that was subsequently validated using bisulfite pyrosequencing experiments. According to the validation cohort, this cost-effective method discriminates between benign and malignant nodules with a sensitivity and specificity of 97 and 88%, respectively (positive predictive value (PPV): 0.85, negative predictive value (NPV): 0.98). Conclusions: Our classification system based on a minimal set of epigenetic biomarkers can complement the potential of the diagnostic techniques currently available and would prioritize a considerable number of surgical interventions that are often performed due to uncertain cytology. Significance statement: In recent years, there has been a significant increase in the number of people diagnosed with thyroid nodules. The current challenge is their etiological diagnosis to discount malignancy without resorting to thyroidectomy. The method proposed here, based on DNA pyrosequencing assays, has high sensitivity (0.97) and specificity (0.88) for the identification of malignant thyroid nodules. This simple and cost-effective approach can complement expert pathologist evaluation to prioritize the classification of difficult-to-diagnose follicular-patterned thyroid lesions and track tumor evolution, including real-time monitoring of treatment efficacy, thereby stimulating adherence to health promotion programs.

Ultrasound-Guided Fine-Needle Aspiration of Superficial Lymphadenopathy Performed by Interventional Pathologists: The Applicability of the Sydney System from 2 Years of Experience and 363 Cases.

INTRODUCTION: The Sydney system proposal for the study and reporting of lymphadenopathy by fine-needle aspiration (FNA) constitutes one of the first attempts to standardize this procedure. Here, we review its applicability. MATERIALS AND METHODS: A retrospective study in which all ultrasound-guided FNAs (USFNAs) of superficial lymphadenopathy (palpable or not) performed by interventional pathologists in 2 specialized hospital centers were quantified over 2 years. The procedure was systematized, and the diagnoses were reclassified according to the Sydney system categories. RESULTS: We analyzed 363 USFNAs of lymphadenopathies. The distribution of cases by categories was as follows: insufficient (n = 13; 3.58%), benign (n = 208; 57.30%), atypia of uncertain significance (n = 7; 1.93%), suspicious (n = 21; 5.79), and malignant (n = 114; 31.40%). The risks of malignancy calculated for categories I, II, III, IV, and V were 27%, 3%, 50%, 100%, and 100%, respectively. CONCLUSION: The implementation of the Sydney system allows the systematization and standardization of the lymph node FNA methodology, with increased efficacy and efficiency. Assimilating the recommendations enables the qualification of the diagnostic procedure.

[Minimally invasive percutaneous musculoskeletal biopsy performed by Interventional Pathologist for myopathy study. Twenty years of experience]. / Biopsia percutánea muscular mínimamente invasiva realizada por patólogo intervencionista en el estudio de miopatías. Veinte años de experiencia.

INTRODUCTION: Muscle biopsy plays a major role in the final diagnosis of myopathies. Open muscle biopsy is the benchmark procedure, although minimally invasive percutaneous muscle biopsy (MIPMB) has demonstrated comparable diagnostic performance at a lower cost and can be carried out by interventional pathologists. MATERIALS AND METHODS: Muscle biopsies performed from 1997 to 2017 were reviewed and classified according to the type of procedure, whether carried out by an interventional pathologist or another specialist, the diagnosis and the effectiveness of the procedure. RESULTS: 738 muscle biopsies were performed; 32% were open biopsies and 68% MIPMB carried out by pathologist. The muscle most often biopsied was the femoral quadriceps and the most frequent diagnosis was inflammatory myopathies. In only 39 cases (20 open biopsies and 19 MIPMB) was there insufficient tissue for diagnosis. CONCLUSIONS: Muscle biopsy proved highly effective as a diagnostic tool as 90% yielded adequate tissue samples. The results obtained with MIPMB performed by interventionist pathologists were comparable to those of open muscle biopsy.

Biopsy of Intrapulmonary Lesions in Lungs with Atelectasis and Pleural Effusion / Biopsia de lesiones intrapulmonares en pulmones con atelectasia y derrame pleural

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Amyloid goiter diagnosis by ultrasound-guided fine needle aspiration performed by interventional pathologist.

Amyloid goiter (AG) (primary or secondary) is extremely rare. An abdominal fat pad core needle biopsy (CNB) is the diagnostic gold standard for secondary amyloidosis. Although CNB is useful to detect amyloid infiltration of a specific organ, fine-needle aspiration (FNA) is proven to be the best diagnostic method for thyroid disorders. Guidelines recommend an ultrasound-guided FNA (US-FNA) whenever possible. This procedure is usually performed by various interventional specialists, including pathologists, who perform the procedure in addition to validating the adequacy of the sample. We report a rare case of AG diagnosed using US-FNA performed by a pathologist in a 39-year-old patient with systemic amyloidosis. US-FNA performed by pathologists is a proven, less-invasive, and cost-effective tool that ensures acquisition of adequate specimens and reduces nondiagnostic rates of this procedure to ensure timely cytological diagnosis.

Silicosis en trabajadores con conglomerados artificiales de cuarzo / Silicosis in Artificial Quartz Conglomerate Workers

Introducción: La silicosis es una enfermedad crónica progresiva producida por la inhalación de sílice cristalina. La mayoría de los casos aparecen en trabajadores de minería de interior y extracción de piedra natural (pizarra, granito). Ante la progresiva aparición de nuevos casos de silicosis en trabajadores con conglomerados artificiales de cuarzo (CAC), se planteó un estudio que tuvo como objetivo analizar las características de la silicosis producida por un nuevo agente en España. Métodos: El estudio consistió en una serie de 96 casos diagnosticados de silicosis según criterios internacionales durante el periodo comprendido entre 2010 y 2017. Se analizaron las características clínicas, radiológicas, funcionales y patológicas. Resultados: La edad media fue de 45 años, el 55% con silicosis simple y el 45% con silicosis complicada. En 10 pacientes se diagnosticó silicosis acelerada, con una media de 33 años de edad. El tiempo medio de exposición a los conglomerados fue de 15 años y en un 77% no se utilizaban medidas de protección adecuadas. La mitad de los pacientes estaban asintomáticos y presentaban diferentes formas clásicas en la radiografía de tórax y tomografía computarizada de alta resolución de tórax, así como imágenes de vidrio deslustrado. No se observaron alteraciones en la función pulmonar. Conclusiones: La silicosis en los trabajadores con CAC se observa en personas jóvenes, en activo, en un considerable porcentaje de forma acelerada, con escasos síntomas y sin alteración funcional. Las medidas de protección son escasas. Es importante conocer estas características para el diagnóstico precoz y las necesarias medidas preventivas

Introduction: Silicosis is a chronic progressive disease caused by inhalation of crystalline silica. Most cases develop in underground mine workers and in subjects involved in the extraction of natural stone (slate and granite). In view of the progressive emergence of new cases of silicosis in artificial quartz conglomerate workers, we performed a study to analyze the characteristics of silicosis produced by this new agent in Spain. Methods: The study consisted of a series of 96 cases of silicosis diagnosed according to international criteria during the period 2010-2017. We analyzed clinical, radiological, pathological and functional characteristics. Results: Mean age of participants was 45 years; 55% had simple silicosis and 45% had complicated silicosis. Ten patients were diagnosed with accelerated silicosis, with a mean age of 33 years. Mean time of exposure to conglomerates was 15 years, and 77% had not used appropriate protection measures. Half of the patients were asymptomatic and presented different classic forms on chest X-ray and chest high-resolution computed tomography, along with ground-glass images. No lung function changes were recorded. Conclusions: Silicosis in artificial quartz conglomerate workers occurs in a young, actively employed population, a considerable percentage of whom present an accelerated form. They have few symptoms and no functional limitations. Protection measures are scarce. It is important to characterize these features to provide early diagnosis and implement the necessary preventive measures

Systematized protocol for interventional pathology reports. Pathology report paradigm for pathologist-performed Ultrasound Guided Fine Needle Aspiration (USFNA) and Ultrasound Guided Core Needle Biopsy (USCNB) / Protocolo sistematizado para informes de patología intervencionista. Informe de anatomía patológica para punción-aspiración con aguja fina con ecografía (EcoPAAF) y biopsia con aguja gruesa con ecografía (EcoBAG)

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Silicosis in Artificial Quartz Conglomerate Workers. / Silicosis en trabajadores con conglomerados artificiales de cuarzo.

INTRODUCTION: Silicosis is a chronic progressive disease caused by inhalation of crystalline silica. Most cases develop in underground mine workers and in subjects involved in the extraction of natural stone (slate and granite). In view of the progressive emergence of new cases of silicosis in artificial quartz conglomerate workers, we performed a study to analyze the characteristics of silicosis produced by this new agent in Spain. METHODS: The study consisted of a series of 96 cases of silicosis diagnosed according to international criteria during the period 2010-2017. We analyzed clinical, radiological, pathological and functional characteristics. RESULTS: Mean age of participants was 45 years; 55% had simple silicosis and 45% had complicated silicosis. Ten patients were diagnosed with accelerated silicosis, with a mean age of 33 years. Mean time of exposure to conglomerates was 15 years, and 77% had not used appropriate protection measures. Half of the patients were asymptomatic and presented different classic forms on chest X-ray and chest high-resolution computed tomography, along with ground-glass images. No lung function changes were recorded. CONCLUSIONS: Silicosis in artificial quartz conglomerate workers occurs in a young, actively employed population, a considerable percentage of whom present an accelerated form. They have few symptoms and no functional limitations. Protection measures are scarce. It is important to characterize these features to provide early diagnosis and implement the necessary preventive measures.