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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.
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We can safely manage patients on antithrombotic therapy in the interventional pathology practice with this practical algorithm based on the new Antithrombotic Therapy Management Guidelines. This new algorithm helps ensure safe care for patients on antithrombotic therapy undergoing interventional pathology procedures. #interventionalpathology.
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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.
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BACKGROUND: After a series of standardized reporting systems in cytopathology, the Sydney system was recently introduced to address the need for reproducibility and standardization in lymph node cytopathology. Since then, the risk of malignancy for the categories of the Sydney system has been explored by several studies, but no studies have yet examined the interobserver reproducibility of the Sydney system. METHODS: The authors assessed interobserver reproducibility of the Sydney system on 85 lymph node fine-needle aspiration cytology cases reviewed by 15 cytopathologists from 12 institutions in eight different countries, resulting in 1275 diagnoses. In total, 186 slides stained with Diff-Quik, Papanicolaou, and immunocytochemistry were scanned. A subset of the cases included clinical data and results from ultrasound examinations, flow cytometry immunophenotyping, and fluorescence in situ hybridization analysis. The study participants assessed the cases digitally using whole-slide images. RESULTS: Overall, the authors observed an almost perfect agreement of cytopathologists with the ground truth (median weighted Cohen κ = 0.887; interquartile range, κ = 0.210) and moderate overall interobserver concordance (Fleiss κ = 0.476). There was substantial agreement for the inadequate and malignant categories (κ = 0.794 and κ = 0.729, respectively), moderate agreement for the benign category (κ = 0.490), and very slight agreement for the suspicious (κ = 0.104) and atypical (κ = 0.075) categories. CONCLUSIONS: The Sydney system for reporting lymph node cytopathology shows adequate interobserver concordance. Digital microscopy is an adequate means to assess lymph node cytopathology specimens.
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Neoplasias , Humanos , Reproducibilidad de los Resultados , Hibridación Fluorescente in Situ , Neoplasias/patología , Citodiagnóstico/métodos , Ganglios Linfáticos/diagnóstico por imagen , Ganglios Linfáticos/patologíaRESUMEN
Sclerosing Mesenteritis (SM) is a rare diagnosis, particularly in pediatric patients, and is typically non-fatal when appropriately treated. Although molecular and immunohistochemical alterations have been described, no pathognomonic signature has been identified for this entity. This report presents a case of a seven-year-old boy who suffered sudden cardiorespiratory arrest. Upon autopsy, he was found to have multicentric SM on the upper mesentery, which led to bowel wall thinning and abdominal bleeding with bacterial translocation. We performed comprehensive morphological, immunohistochemical, and molecular analyses. SM is an atypical disorder with diverse clinical manifestations, including a rare but potentially fatal course. Early diagnosis is critical, given its potential severity. To our knowledge, this is the first case report of pediatric mortality linked to SM. Our findings emphasize the importance of increased awareness and early detection of SM in pediatric patients.
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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.
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Adenocarcinoma , Carcinoma de Células en Anillo de Sello , Carcinoma de Células Escamosas , Neoplasias Pulmonares , Derrame Pleural , Masculino , Humanos , Anciano , Carcinoma de Células en Anillo de Sello/patología , Carcinoma de Células Escamosas/patología , Adenocarcinoma/complicaciones , Neoplasias Pulmonares/patología , Derrame Pleural/complicacionesRESUMEN
ABSTRACT Sclerosing Mesenteritis (SM) is a rare diagnosis, particularly in pediatric patients, and is typically non-fatal when appropriately treated. Although molecular and immunohistochemical alterations have been described, no pathognomonic signature has been identified for this entity. This report presents a case of a seven-year-old boy who suffered sudden cardiorespiratory arrest. Upon autopsy, he was found to have multicentric SM on the upper mesentery, which led to bowel wall thinning and abdominal bleeding with bacterial translocation. We performed comprehensive morphological, immunohistochemical, and molecular analyses. SM is an atypical disorder with diverse clinical manifestations, including a rare but potentially fatal course. Early diagnosis is critical, given its potential severity. To our knowledge, this is the first case report of pediatric mortality linked to SM. Our findings emphasize the importance of increased awareness and early detection of SM in pediatric patients.
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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.
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Neoplasias Pulmonares , Tumores Neuroendocrinos , Neoplasias de Células Epitelioides Perivasculares , Humanos , Pulmón/patología , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/patología , Masculino , Persona de Mediana Edad , Neoplasias de Células Epitelioides Perivasculares/diagnóstico , Pronóstico , AzúcaresRESUMEN
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.
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Neoplasias de la Tiroides , Nódulo Tiroideo , Biomarcadores , Epigénesis Genética , Humanos , Estudios Retrospectivos , Sensibilidad y Especificidad , Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/genética , Neoplasias de la Tiroides/patología , Nódulo Tiroideo/diagnóstico , Nódulo Tiroideo/genética , Nódulo Tiroideo/patologíaRESUMEN
OBJECTIVE: To assess the metastasic prostatecancer in the differenctial diagnosis of mediastinal masses. METHODS: To report a case. RESULTS: We present the case of a 78-year-old male patientwith a diagnosis of prostate cancer with a mediastinalmass compatible with prostate metastasis. CONCLUSION: Mediastinum is a very rare site for prostatecancer metastasis, but it must be considered in thedifferential diagnosis of mediastinal masses. Treatment isthe usual for metastatic prostate cancer.
OBJETIVO: Considerar el cáncer de próstatametastásico en el diagnóstico diferencial de masas mediastínicas. MÉTODOS: Presentación de un caso clínico. RESULTADOS: Se presenta el caso de un paciente varónde 78 años con diagnóstico de cáncer de próstata en elque se objetiva una masa mediastínica compatible conmetástasis prostática. CONCLUSIÓN: El mediastino es un lugar muy infrecuentede metástasis de cáncer de próstata, pero hay que considerarloen el diagnóstico diferencial de masas mediastínicas.El tratamiento es el estándar del cáncer de próstatametastásico.
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Mediastino , Neoplasias de la Próstata , Anciano , Humanos , MasculinoRESUMEN
Objetivo: Considerar el cáncer de próstatametastásico en el diagnóstico diferencial de masas mediastínicas. Métodos: Presentación de un caso clínico.Resultados: Se presenta el caso de un paciente varónde 78 años con diagnóstico de cáncer de próstata en elque se objetiva una masa mediastínica compatible conmetástasis prostática. Conclusion: El mediastino es un lugar muy infrecuentede metástasis de cáncer de próstata, pero hay que considerarlo en el diagnóstico diferencial de masas mediastínicas. El tratamiento es el estándar del cáncer de próstatametastásico.(AU)
Objetive: To assess the metastasic prostatecancer in the differenctial diagnosis of mediastinal masses. Methods: To report a case. Results: We present the case of a 78-year-old male patient with a diagnosis of prostate cancer with a mediastinalmass compatible with prostate metastasis. Conclusion: Mediastinum is a very rare site for prostate cancer metastasis, but it must be considered in thedifferential diagnosis of mediastinal masses. Treatment isthe usual for metastatic prostate cancer.(AU)
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Humanos , Masculino , Anciano , Pacientes Internos , Examen Físico , Metástasis de la Neoplasia , Neoplasias de la Próstata , Mediastino , Diagnóstico , QuimioterapiaRESUMEN
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.
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Biopsia Guiada por Imagen , Ganglios Linfáticos/patología , Linfadenopatía/patología , Ultrasonografía Intervencional , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Biopsia con Aguja Fina , Niño , Femenino , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Reproducibilidad de los Resultados , Estudios Retrospectivos , España , Adulto JovenRESUMEN
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.
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Competencia Clínica , Músculo Esquelético/patología , Enfermedades Musculares/patología , Patólogos/normas , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Biopsia con Aguja Gruesa/efectos adversos , Biopsia con Aguja Gruesa/métodos , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Músculo Cuádriceps/patología , Factores de Tiempo , Adulto JovenRESUMEN
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Humanos , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Neoplasias Pulmonares , Biopsia con Aguja , Lesión Pulmonar , Atelectasia Pulmonar , Pared Torácica , Tomografía Computarizada por Rayos XRESUMEN
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.
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Amiloidosis/diagnóstico , Amiloidosis/patología , Bocio/diagnóstico , Bocio/patología , Adulto , Biopsia con Aguja Fina/métodos , Humanos , Masculino , Patólogos , Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/patología , Nódulo Tiroideo/diagnóstico , Nódulo Tiroideo/patología , Ultrasonografía/métodos , Ultrasonografía Intervencional/métodosRESUMEN
No disponible