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1.
Rev. esp. patol ; 57(2): 77-83, Abr-Jun, 2024. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-232410

RESUMO

Introducción: En un servicio de anatomía patológica se analiza la carga laboral en tiempo médico en función de la complejidad de las muestras recibidas, y se valora su distribución entre los patólogos, presentado un nuevo algoritmo informático que favorece una distribución equitativa. Métodos: Siguiendo las directrices para la «Estimación de la carga de trabajo en citopatología e histopatología (tiempo médico) atendiendo al catálogo de muestras y procedimientos de la SEAP-IAP (2.ª edición)» se determinan las unidades de carga laboral (UCL) por patólogo y UCL global del servicio, la carga media laboral que soporta el servicio (factor MU), el tiempo de dedicación de cada patólogo a la actividad asistencial y el número de patólogos óptimo según la carga laboral del servicio. Resultados: Determinamos 12.197 UCL totales anuales para el patólogo jefe de servicio, así como 14.702 y 13.842 para los patólogos adjuntos, con una UCL global del servicio de 40.742. El factor MU calculado es 4,97. El jefe ha dedicado el 72,25% de su jornada a la asistencia y los adjuntos el 87,09 y 82,01%. El número de patólogos óptimo para el servicio es de 3,55. Conclusiones: Todos los resultados obtenidos demuestran la sobrecarga laboral médica, y la distribución de las UCL entre los patólogos no resulta equitativa. Se propone un algoritmo informático capaz de distribuir la carga laboral de manera equitativa, asociado al sistema de información del laboratorio, y que tenga en cuenta el tipo de muestra, su complejidad y la dedicación asistencial de cada patólogo.(AU)


Introduction: In a pathological anatomy service, the workload in medical time is analyzed based on the complexity of the samples received and its distribution among pathologists is assessed, presenting a new computer algorithm that favors an equitable distribution. Methods: Following the second edition of the Spanish guidelines for the estimation of workload in cytopathology and histopathology (medical time) according to the Spanish Pathology Society-International Academy of Pathology (SEAP-IAP) catalog of samples and procedures, we determined the workload units (UCL) per pathologist and the overall UCL of the service, the average workload of the service (MU factor), the time dedicated by each pathologist to healthcare activity and the optimal number of pathologists according to the workload of the service. Results: We determined 12 197 total annual UCL for the chief pathologist, as well as 14 702 and 13 842 UCL for associate pathologists, with an overall of 40 742 UCL for the whole service. The calculated MU factor is 4.97. The chief pathologist devoted 72.25% of his working day to healthcare activity while associate pathologists dedicated 87.09% and 82.01% of their working hours. The optimal number of pathologists for the service is found to be 3.55. Conclusions: The results demonstrate medical work overload and a non-equitable distribution of UCLs among pathologists. We propose a computer algorithm capable of distributing the workload in an equitable manner. It would be associated with the laboratory information system and take into account the type of specimen, its complexity and the dedication of each pathologist to healthcare activity.(AU)


Assuntos
Humanos , Masculino , Feminino , Patologia , Carga de Trabalho , Patologistas , Serviço Hospitalar de Patologia , Algoritmos
2.
Lang Speech Hear Serv Sch ; 55(2): 389-393, 2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38563740

RESUMO

PURPOSE: This prologue introduces the forum "Pediatric Feeding Disorder and the School-Based SLP: An Evidence-Based Update for Clinical Practice" and informs the reader of the scope of articles presented. METHOD: The guest prologue author provides a brief history of pediatric feeding and swallowing services in the public-school setting, including previous forums on swallowing and feeding services in the schools (Logemann & O'Toole, 2000; McNeilly & Sheppard, 2008). The concepts that have been learned since the 2008 forum are shared. The contributing authors in the forum are introduced, and a summary is provided for each of the articles. CONCLUSIONS: The articles provide evidence-based information on topics that are uniquely of interest to school-based speech-language pathologists managing pediatric feeding and swallowing in their districts. The topics shared in this forum range from relevant information on anatomy, physiology, developmental milestones, and differential diagnosis to therapeutic practice when identifying and treating pediatric feeding and swallowing in the school setting. The forum also includes focused articles on the necessity of collaboration with families during the treatment process, current information on legal parameters dealing with school-based pediatric feeding disorder services, and a framework for assessment and treating pediatric feeding disorder in the school setting.


Assuntos
Transtornos da Alimentação e da Ingestão de Alimentos , Patologia da Fala e Linguagem , Humanos , Criança , Patologistas , Fala , Idioma , Aprendizagem , Transtornos da Alimentação e da Ingestão de Alimentos/diagnóstico , Transtornos da Alimentação e da Ingestão de Alimentos/terapia
4.
Rev Esp Patol ; 57(2): 77-83, 2024.
Artigo em Espanhol | MEDLINE | ID: mdl-38599740

RESUMO

INTRODUCTION: In a pathological anatomy service, the workload in medical time is analyzed based on the complexity of the samples received and its distribution among pathologists is assessed, presenting a new computer algorithm that favors an equitable distribution. METHODS: Following the second edition of the Spanish guidelines for the estimation of workload in cytopathology and histopathology (medical time) according to the Spanish Pathology Society-International Academy of Pathology (SEAP-IAP) catalog of samples and procedures, we determined the workload units (UCL) per pathologist and the overall UCL of the service, the average workload of the service (MU factor), the time dedicated by each pathologist to healthcare activity and the optimal number of pathologists according to the workload of the service. RESULTS: We determined 12 197 total annual UCL for the chief pathologist, as well as 14 702 and 13 842 UCL for associate pathologists, with an overall of 40 742 UCL for the whole service. The calculated MU factor is 4.97. The chief pathologist devoted 72.25% of his working day to healthcare activity while associate pathologists dedicated 87.09% and 82.01% of their working hours. The optimal number of pathologists for the service is found to be 3.55. CONCLUSIONS: The results demonstrate medical work overload and a non-equitable distribution of UCLs among pathologists. We propose a computer algorithm capable of distributing the workload in an equitable manner. It would be associated with the laboratory information system and take into account the type of specimen, its complexity and the dedication of each pathologist to healthcare activity.


Assuntos
Serviço Hospitalar de Patologia , Carga de Trabalho , Humanos , Patologistas , Algoritmos
6.
Int J Mol Sci ; 25(7)2024 Mar 23.
Artigo em Inglês | MEDLINE | ID: mdl-38612431

RESUMO

Idiopathic Interstitial Pneumonias (IIPs) are a heterogeneous group of the broader category of Interstitial Lung Diseases (ILDs), pathologically characterized by the distortion of lung parenchyma by interstitial inflammation and/or fibrosis. The American Thoracic Society (ATS)/European Respiratory Society (ERS) international multidisciplinary consensus classification of the IIPs was published in 2002 and then updated in 2013, with the authors emphasizing the need for a multidisciplinary approach to the diagnosis of IIPs. The histological evaluation of IIPs is challenging, and different types of IIPs are classically associated with specific histopathological patterns. However, morphological overlaps can be observed, and the same histopathological features can be seen in totally different clinical settings. Therefore, the pathologist's aim is to recognize the pathologic-morphologic pattern of disease in this clinical setting, and only after multi-disciplinary evaluation, if there is concordance between clinical and radiological findings, a definitive diagnosis of specific IIP can be established, allowing the optimal clinical-therapeutic management of the patient.


Assuntos
Pneumonias Intersticiais Idiopáticas , Patologistas , Humanos , Consenso , Estudos Interdisciplinares , Taxa Respiratória , Pneumonias Intersticiais Idiopáticas/diagnóstico
7.
Arch Dermatol Res ; 316(5): 119, 2024 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-38625403

RESUMO

This paper explores the role of teledermatology (TD) in Mohs micrographic surgery (MMS) at various stages of patient care. The study aims to assess the benefits, limitations, and patient experiences surrounding TD integration into MMS practices. We conducted a PubMed search using keywords related to TD and MMS, categorizing selected articles into pre-operative, intra-operative, and post-operative stages of MMS. TD reduced waiting times (26.10 days for TD compared to 60.57 days for face-to-face [FTF]) and consultation failure rates (6% for TD vs. 17% for FTF) for MMS preoperative consultations. It also shortened time to treatment by two weeks and led to notable travel savings (162.7 min, 144.5 miles, and $60.00 per person). Telepathology facilitated communication and decision-making during MMS, improving accuracy and efficiency, especially in challenging cases requiring collaboration where physical presence of another surgeon or pathologist is not feasible. Telepathology definitively diagnosed benign lesions and malignant tumors in 81.8% of cases (18/22). Additionally, there was a 95% agreement between conventional light microscopy diagnosis and telepathology in tumors (19/20), and 100% agreement for all 20 Mohs frozen section consultations. For post-operative follow-up, telephone follow-up (TFU) and text messaging proved effective, cost-efficient alternatives with high patient satisfaction (94% in New Zealand and 96% in the U.K.) and early complication identification. This study underscores TD's multifaceted benefits in MMS: enhanced patient experience preoperatively, improved communication during surgery, and cost-effective postoperative follow-up. Limitations include the financial expense and technical issues that can arise with TD (connectivity problems, delays in video/audio transmission, etc.). Further studies are needed to explore emerging TD modalities in post-operative patient management. The integration of TD into MMS signifies a progressive step in dermatological care, offering convenient, cost-effective, and better solutions with the potential to enhance patient experiences and outcomes.


Assuntos
Comunicação , Cirurgia de Mohs , Humanos , Nova Zelândia , Patologistas , Satisfação do Paciente
8.
J Coll Physicians Surg Pak ; 34(4): 484-488, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38576295

RESUMO

OBJECTIVE: To analyse quantitatively the adequacy of demographics of clinical information and highlight specific areas of neglect, by assessing the adequacy of filling out histopathology request forms. STUDY DESIGN: Clinical Audit. Place and Duration of the Study: Department of Pathology, Dow University of Health Sciences (DUHS), Karachi, Pakistan, from January to September 2021. METHODOLOGY: A retrospective audit was carried out on the request forms of surgically resected tumours and biopsies. The recorded details of the patients' demographics and biopsy, clinical history and examination, and intraoperative findings were analysed. RESULTS: Out of 175 forms, patients' names were written in 174 (99.4%) while medical record numbers were written in 113 (64.6%). The doctors' names were given in 172 (98.3%) forms and phone numbers in 34 (19.4%). A clinical diagnosis was provided in 164 (93.7%) forms, while 152 (86.9%) forms correctly entered the biopsy site. Sixty-seven (38.3%) forms included the correct nature of the biopsy. Relevant operative details were provided in half of the forms. Symptoms and their duration were mentioned in 144 (82.3%) and 100 (57.1%), respectively. The form-filling rate was the same for both benign and malignant tumours. CONCLUSION: This study shows that in a significant proportion of cases, complete relevant information is not provided to the histopathologists on request forms for logistics. KEY WORDS: Histopathology, Request forms, Tumours, Audit.


Assuntos
Neoplasias , Médicos , Humanos , Patologistas , Estudos Retrospectivos , Biópsia
9.
J Pathol ; 263(1): 89-98, 2024 05.
Artigo em Inglês | MEDLINE | ID: mdl-38433721

RESUMO

Brain metastases can occur in nearly half of patients with early and locally advanced (stage I-III) non-small cell lung cancer (NSCLC). There are no reliable histopathologic or molecular means to identify those who are likely to develop brain metastases. We sought to determine if deep learning (DL) could be applied to routine H&E-stained primary tumor tissue sections from stage I-III NSCLC patients to predict the development of brain metastasis. Diagnostic slides from 158 patients with stage I-III NSCLC followed for at least 5 years for the development of brain metastases (Met+, 65 patients) versus no progression (Met-, 93 patients) were subjected to whole-slide imaging. Three separate iterations were performed by first selecting 118 cases (45 Met+, 73 Met-) to train and validate the DL algorithm, while 40 separate cases (20 Met+, 20 Met-) were used as the test set. The DL algorithm results were compared to a blinded review by four expert pathologists. The DL-based algorithm was able to distinguish the eventual development of brain metastases with an accuracy of 87% (p < 0.0001) compared with an average of 57.3% by the four pathologists and appears to be particularly useful in predicting brain metastases in stage I patients. The DL algorithm appears to focus on a complex set of histologic features. DL-based algorithms using routine H&E-stained slides may identify patients who are likely to develop brain metastases from those who will remain disease free over extended (>5 year) follow-up and may thus be spared systemic therapy. © 2024 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.


Assuntos
Neoplasias Encefálicas , Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Humanos , Neoplasias Pulmonares/patologia , Carcinoma Pulmonar de Células não Pequenas/patologia , Algoritmos , Patologistas
10.
Adv Anat Pathol ; 31(3): 188-201, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38525660

RESUMO

The diagnosis and reporting of prostatic adenocarcinoma have evolved from the classic framework promulgated by Dr Donald Gleason in the 1960s into a complex and nuanced system of grading and reporting that nonetheless retains the essence of his remarkable observations. The criteria for the "Gleason patterns" originally proposed have been continually refined by consensuses in the field, and Gleason scores have been stratified into a patient-friendly set of prognostically validated and widely adopted Grade Groups. One product of this successful grading approach has been the opportunity for pathologists to report diagnoses that signal carefully personalized management, placing the surgical pathologist's interpretation at the center of patient care. At one end of the continuum of disease aggressiveness, personalized diagnostic care means to sub-stratify patients with more indolent disease for active surveillance, while at the other end of the continuum, reporting histologic markers signaling aggression allows sub-stratification of clinically significant disease. Whether contemporary reporting parameters represent deeper nuances of more established ones (eg, new criteria and/or quantitation of Gleason patterns 4 and 5) or represent additional features reported alongside grade (intraductal carcinoma, cribriform patterns of carcinoma), assessment and grading have become more complex and demanding. Herein, we explore these newer reporting parameters, highlighting the state of knowledge regarding morphologic, molecular, and management aspects. Emphasis is made on the increasing value and stakes of histopathologists' interpretations and reporting into current clinical risk stratification and treatment guidelines.


Assuntos
Carcinoma Intraductal não Infiltrante , Neoplasias da Próstata , Masculino , Humanos , Neoplasias da Próstata/diagnóstico , Neoplasias da Próstata/terapia , Neoplasias da Próstata/patologia , Gradação de Tumores , Patologistas , Consenso
11.
J Pathol Clin Res ; 10(2): e12366, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38462794

RESUMO

An increasing number of manuscripts related to digital and computational pathology are being submitted to The Journal of Pathology: Clinical Research as part of the continuous evolution from digital imaging and algorithm-based digital pathology to computational pathology and artificial intelligence. However, despite these technological advances, tissue analysis still relies heavily on pathologists' annotations. There are three crucial elements to the pathologist's role during annotation tasks: granularity, time constraints, and responsibility for the interpretation of computational results. Granularity involves detailed annotations, including case level, regional, and cellular features; and integration of attributions from different sources. Time constraints due to pathologist shortages have led to the development of techniques to expedite annotation tasks from cell-level attributions up to so-called unsupervised learning. The impact of pathologists may seem diminished, but their role is crucial in providing ground truth and connecting pathological knowledge generation with computational advancements. Measures to display results back to pathologists and reflections about correctly applied diagnostic criteria are mandatory to maintain fidelity during human-machine interactions. Collaboration and iterative processes, such as human-in-the-loop machine learning are key for continuous improvement, ensuring the pathologist's involvement in evaluating computational results and closing the loop for clinical applicability. The journal is interested particularly in the clinical diagnostic application of computational pathology and invites submissions that address the issues raised in this editorial.


Assuntos
Inteligência Artificial , Patologistas , Humanos , Algoritmos
12.
Sci Rep ; 14(1): 6780, 2024 03 21.
Artigo em Inglês | MEDLINE | ID: mdl-38514661

RESUMO

Cancer diseases constitute one of the most significant societal challenges. In this paper, we introduce a novel histopathological dataset for prostate cancer detection. The proposed dataset, consisting of over 2.6 million tissue patches extracted from 430 fully annotated scans, 4675 scans with assigned binary diagnoses, and 46 scans with diagnoses independently provided by a group of histopathologists can be found at https://github.com/michalkoziarski/DiagSet . Furthermore, we propose a machine learning framework for detection of cancerous tissue regions and prediction of scan-level diagnosis, utilizing thresholding to abstain from the decision in uncertain cases. The proposed approach, composed of ensembles of deep neural networks operating on the histopathological scans at different scales, achieves 94.6% accuracy in patch-level recognition and is compared in a scan-level diagnosis with 9 human histopathologists showing high statistical agreement.


Assuntos
Redes Neurais de Computação , Neoplasias da Próstata , Masculino , Humanos , Próstata/diagnóstico por imagem , Aprendizado de Máquina , Neoplasias da Próstata/diagnóstico por imagem , Patologistas
15.
Rev. esp. med. legal ; 50(1): 3-13, Ene.-Mar. 2024. ilus, tab
Artigo em Inglês, Espanhol | IBECS | ID: ibc-229292

RESUMO

Introducción la disección/rotura de la aorta torácica tiene una alta mortalidad, constituyendo de 3,9 a 5,4% de las muertes súbitas en series forenses. Los hallazgos histopatológicos de la media asociados a estas entidades han recibido múltiples términos y definiciones. En 2016, la Asociación Europea de Patología Cardiovascular junto con la Sociedad de Patología Cardiovascular publicaron un documento de consenso, aplicado a muestras quirúrgicas, para unificar criterios. El objetivo de este trabajo es valorar su aplicación en las autopsias forenses. Un objetivo secundario es estudiar cambios inflamatorios útiles para la datación. Material y métodos se revisaron las preparaciones histológicas de aorta de 54 casos de muertes súbitas por rotura/disección aórtica estudiados entre 2019 y 2022. Resultados se observó degeneración de la media en 49 casos (90,8%) (severa en 42,9%). Por lesiones, el orden de frecuencia fue: fragmentación y/o pérdida de las fibras elásticas (74,1%); acúmulo de matriz mucoide extracelular (61,1%); pérdida de núcleos de células musculares lisas (48,1%) y colapso de la media (44,4%). Algunas lesiones del documento no pudieron ser valoradas. No se encontraron diferencias significativas por edad; presencia o no de colagenopatías; o válvulas aórticas bi/tricúspides. Se observó tejido de granulación o infiltrado neutrofílico en los fallecidos con dolor de varios días o <24 h antes de la muerte, respectivamente. Conclusión con la aplicación del documento se encuentran lesiones en la media en >90% de los casos y pueden estudiarse las lesiones fundamentales. La respuesta inflamatoria frente a la rotura/disección parece correlacionarse con el momento de la disección/rotura. (AU)


Introduction Thoracic aortic dissection/rupture has a high mortality, constituting 3.9-5.4% of sudden deaths in forensic series. Medial histopathological findings associated with these entities have received multiple terms and definitions. In 2016, the European Association for Cardiovascular Pathology and the Society for Cardiovascular Pathology published a consensus document, applied to surgical specimens, to unify criteria. The aim of this work is to assess its application in forensic autopsies. A secondary objective is to study inflammatory changes useful for dating. Material and methods Aortic histological preparations of the 54 cases of sudden deaths due to aortic rupture/dissection studied between 2019 and 2022 were reviewed. Results Medial degeneration was observed in 49 cases (90.8%) (severe in 42.9%). By lesions, the order of frequency was: fragmentation and/or loss of elastic fibers (74.1%); accumulation of extracellular mucoid matrix (61.1%); loss of smooth muscle cell nuclei (48.1%) and collapse of the media (44.4%). Some lesions of the consensus paper could not be assessed. No significant differences were found by age; presence or not of collagenopathies; or bi/tricuspid aortic valves. Granulation tissue or neutrophilic infiltrate was observed in those deceased with pain several days or <24 h before death, respectively. Conclusion With the application of the document, lesions in the media are found in >90% of cases and fundamental lesions can be studied. The inflammatory response to rupture/dissection appears to correlate with the timing of dissection/rupture. (AU)


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Morte Súbita/etiologia , Morte Súbita/patologia , /etiologia , /patologia , Patologistas , Autopsia , Estudos Retrospectivos
18.
Sci Rep ; 14(1): 7136, 2024 03 26.
Artigo em Inglês | MEDLINE | ID: mdl-38531958

RESUMO

Programmed death-ligand 1 (PD-L1) expression is currently used in the clinic to assess eligibility for immune-checkpoint inhibitors via the tumor proportion score (TPS), but its efficacy is limited by high interobserver variability. Multiple papers have presented systems for the automatic quantification of TPS, but none report on the task of determining cell-level PD-L1 expression and often reserve their evaluation to a single PD-L1 monoclonal antibody or clinical center. In this paper, we report on a deep learning algorithm for detecting PD-L1 negative and positive tumor cells at a cellular level and evaluate it on a cell-level reference standard established by six readers on a multi-centric, multi PD-L1 assay dataset. This reference standard also provides for the first time a benchmark for computer vision algorithms. In addition, in line with other papers, we also evaluate our algorithm at slide-level by measuring the agreement between the algorithm and six pathologists on TPS quantification. We find a moderately low interobserver agreement at cell-level level (mean reader-reader F1 score = 0.68) which our algorithm sits slightly under (mean reader-AI F1 score = 0.55), especially for cases from the clinical center not included in the training set. Despite this, we find good AI-pathologist agreement on quantifying TPS compared to the interobserver agreement (mean reader-reader Cohen's kappa = 0.54, 95% CI 0.26-0.81, mean reader-AI kappa = 0.49, 95% CI 0.27-0.72). In conclusion, our deep learning algorithm demonstrates promise in detecting PD-L1 expression at a cellular level and exhibits favorable agreement with pathologists in quantifying the tumor proportion score (TPS). We publicly release our models for use via the Grand-Challenge platform.


Assuntos
Carcinoma Pulmonar de Células não Pequenas , Aprendizado Profundo , Neoplasias Pulmonares , Humanos , Carcinoma Pulmonar de Células não Pequenas/patologia , Neoplasias Pulmonares/patologia , Patologistas , Antígeno B7-H1/metabolismo , Imuno-Histoquímica , Biomarcadores Tumorais/metabolismo
19.
Sci Rep ; 14(1): 5284, 2024 03 04.
Artigo em Inglês | MEDLINE | ID: mdl-38438436

RESUMO

Prostate cancer pathology plays a crucial role in clinical management but is time-consuming. Artificial intelligence (AI) shows promise in detecting prostate cancer and grading patterns. We tested an AI-based digital twin of a pathologist, vPatho, on 2603 histological images of prostate tissue stained with hematoxylin and eosin. We analyzed various factors influencing tumor grade discordance between the vPatho system and six human pathologists. Our results demonstrated that vPatho achieved comparable performance in prostate cancer detection and tumor volume estimation, as reported in the literature. The concordance levels between vPatho and human pathologists were examined. Notably, moderate to substantial agreement was observed in identifying complementary histological features such as ductal, cribriform, nerve, blood vessel, and lymphocyte infiltration. However, concordance in tumor grading decreased when applied to prostatectomy specimens (κ = 0.44) compared to biopsy cores (κ = 0.70). Adjusting the decision threshold for the secondary Gleason pattern from 5 to 10% improved the concordance level between pathologists and vPatho for tumor grading on prostatectomy specimens (κ from 0.44 to 0.64). Potential causes of grade discordance included the vertical extent of tumors toward the prostate boundary and the proportions of slides with prostate cancer. Gleason pattern 4 was particularly associated with this population. Notably, the grade according to vPatho was not specific to any of the six pathologists involved in routine clinical grading. In conclusion, our study highlights the potential utility of AI in developing a digital twin for a pathologist. This approach can help uncover limitations in AI adoption and the practical application of the current grading system for prostate cancer pathology.


Assuntos
Inteligência Artificial , Neoplasias da Próstata , Humanos , Masculino , Patologistas , Próstata , Biópsia
20.
Zhonghua Bing Li Xue Za Zhi ; 53(3): 224-229, 2024 Mar 08.
Artigo em Chinês | MEDLINE | ID: mdl-38433048

RESUMO

WHO firstly published the classification of paediatric tumours, in which genetic tumour syndromes were introduced as a separate chapter, covering the clinicopathological features, molecular genetic alterations, and diagnostic criteria of various tumor susceptibility syndromes common in children. This article briefly introduces and interprets 5 hotspot genetic tumour syndromes (neurofibromatosis type 1, naevoid basal cell carcinoma syndrome, von Hippel-Lindau syndrome, familial adenomatous polyposis and xeroderma pigmentosum) based on relevant literature, in order to bring new perspectives and insights to pathologists and clinicians.


Assuntos
Polipose Adenomatosa do Colo , Neoplasias , Criança , Humanos , Neoplasias/genética , Polipose Adenomatosa do Colo/genética , Mutação , Patologistas , Organização Mundial da Saúde
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