ABSTRACT
BACKGROUND: The impact of thrombolytics directed towards different thrombus components regarding site of occlusion in combination with mechanical thrombectomy (MT) to achieve endovascular complete recanalization is unclear. METHODS: Retrospective analysis of a prospective database in two stroke centers. Intracranial thrombi retrieved by MT were analyzed using hematoxylin-eosin staining for fibrin and red blood cell proportions, and CD61 immunostaining for platelets proportion in thrombus (PLTPT) assessment. Thrombi composition, baseline variables, etiology, treatment features and occlusion location were analyzed. RESULTS: Overall, 221 patients completed the per protocol analysis and 110 cases achieved a final expanded Thrombolysis in Cerebral Infarction (eTICI) 3 (49%) of which 70 were MT (32%) by first pass effect (FPE). Thrombi from medium distal vessel occlusions had higher PLTPT compared with thrombi from proximal large vessel occlusions (68% vs 61%, P=0.026). In particular, middle cerebral artery M2-M3 segment thrombi had the highest PLTPT (70%), and basilar artery thrombi the lowest PLTPT (41%). After logistic regression analysis adjusted for occlusion location and intravenous fibrinolysis, lower baseline National Institutes of Health Stroke Scale score (adjusted OR (aOR) 0.95, 95% CI 0.913 to 0.998) and PLTPT (aOR 0.97, 95% CI 0.963 to 0.993) were independently associated with FPE. Fewer MT passes (aOR 0.67, 95% CI 0.538 to 0.842) and platelet poor thrombus (<62% PLTPT; aOR 2.39, 95% CI 1.288 to 4.440) were independently associated with final eTICI 3. CONCLUSIONS: Occlusion location might be a surrogate parameter for thrombus composition. Platelet poor clots and fewer MT passes were independently associated with complete endovascular recanalization. Clinical trials testing the benefits of combining selective intra-arterial platelet antagonists with MT to improve endovascular outcomes are warranted.
ABSTRACT
Purpose: Biomarkers as screening for precision medicine is a fundamental step. The purpose of this article is twofold. First, to highlight the existing barriers in the implementation of Precision Medicine in Spain, with a special emphasis on barriers in access to the determination of biomarkers. Second, to provide a Roadmap that can help implement Precision Medicine equitably at the national level and optimize the use of biomarkers. Methods: A systematic review of literature (SRL) and a focus group (FG) with multidisciplinary experts has been carried out in 2023. Participants were contacted individually, and discourse analysis was processed anonymously. Results: We carried out a quantitative (SRL) and a qualitative approach (FG). The discourse analysis and roadmap were sent individually to each expert for approval. Conclusions: The potential of Precision Medicine has not been fulfilled in Spain. While several regional initiatives are in place, a national plan or strategy around Precision Medicine and use of biomarkers is lacking. In a general context of rapid progress at a global and European level, including the 2021 Europes Beating Cancer Plan, it is time to define and implement a National Plan to make the promise come true. While some comparable countries within Europe such as the UK or France are mature enough to adopt such strategies, in Spain there is still a long way to go. We consider that the different strands of work outlined in the Roadmap can be used as basis for such purpose.(AU)
Subject(s)
Humans , Male , Female , Biomarkers , Medical Oncology , Precision Medicine , Neoplasms/diagnosis , SpainABSTRACT
Rho GTPases are molecular switches regulating multiple cellular processes. To investigate the role of RhoA in normal intestinal physiology, we used a conditional mouse model overexpressing a dominant negative RhoA mutant (RhoAT19N) in the intestinal epithelium. Although RhoA inhibition did not cause an overt phenotype, increased levels of nuclear ß-catenin were observed in the small intestinal epithelium of RhoAT19N mice, and the overexpression of multiple Wnt target genes revealed a chronic activation of Wnt signaling. Elevated Wnt signaling in RhoAT19N mice and intestinal organoids did not affect the proliferation of intestinal epithelial cells but significantly interfered with their differentiation. Importantly, 17-month-old RhoAT19N mice showed a significant increase in the number of spontaneous intestinal tumors. Altogether, our results indicate that RhoA regulates the differentiation of intestinal epithelial cells and inhibits tumor initiation, likely through the control of Wnt signaling, a key regulator of proliferation and differentiation in the intestine.
ABSTRACT
PURPOSE: Biomarkers as screening for precision medicine is a fundamental step. The purpose of this article is twofold. First, to highlight the existing barriers in the implementation of Precision Medicine in Spain, with a special emphasis on barriers in access to the determination of biomarkers. Second, to provide a Roadmap that can help implement Precision Medicine equitably at the national level and optimize the use of biomarkers. METHODS: A systematic review of literature (SRL) and a focus group (FG) with multidisciplinary experts has been carried out in 2023. Participants were contacted individually, and discourse analysis was processed anonymously. RESULTS: We carried out a quantitative (SRL) and a qualitative approach (FG). The discourse analysis and roadmap were sent individually to each expert for approval. CONCLUSIONS: The potential of Precision Medicine has not been fulfilled in Spain. While several regional initiatives are in place, a national plan or strategy around Precision Medicine and use of biomarkers is lacking. In a general context of rapid progress at a global and European level, including the 2021 Europe's Beating Cancer Plan, it is time to define and implement a National Plan to make the promise come true. While some comparable countries within Europe - such as the UK or France - are mature enough to adopt such strategies, in Spain there is still a long way to go. We consider that the different strands of work outlined in the Roadmap can be used as basis for such purpose.
Subject(s)
Biomarkers, Tumor , Medical Oncology , Neoplasms , Precision Medicine , Humans , Spain , Biomarkers, Tumor/analysis , Neoplasms/diagnosis , Focus GroupsABSTRACT
Programmed death-ligand 1 (PD-L1) IHC is the most commonly used biomarker for immunotherapy response. However, quantification of PD-L1 status in pathology slides is challenging. Neither manual quantification nor a computer-based mimicking of manual readouts is perfectly reproducible, and the predictive performance of both approaches regarding immunotherapy response is limited. In this study, we developed a deep learning (DL) method to predict PD-L1 status directly from raw IHC image data, without explicit intermediary steps such as cell detection or pigment quantification. We trained the weakly supervised model on PD-L1-stained slides from the non-small cell lung cancer (NSCLC)-Memorial Sloan Kettering (MSK) cohort (N = 233) and validated it on the pan-cancer-Vall d'Hebron Institute of Oncology (VHIO) cohort (N = 108). We also investigated the performance of the model to predict response to immune checkpoint inhibitors (ICI) in terms of progression-free survival. In the pan-cancer-VHIO cohort, the performance was compared with tumor proportion score (TPS) and combined positive score (CPS). The DL model showed good performance in predicting PD-L1 expression (TPS ≥ 1%) in both NSCLC-MSK and pan-cancer-VHIO cohort (AUC 0.88 ± 0.06 and 0.80 ± 0.03, respectively). The predicted PD-L1 status showed an improved association with response to ICIs [HR: 1.5 (95% confidence interval: 1-2.3), P = 0.049] compared with TPS [HR: 1.4 (0.96-2.2), P = 0.082] and CPS [HR: 1.2 (0.79-1.9), P = 0.386]. Notably, our explainability analysis showed that the model does not just look at the amount of brown pigment in the IHC slides, but also considers morphologic factors such as lymphocyte conglomerates. Overall, end-to-end weakly supervised DL shows potential for improving patient stratification for cancer immunotherapy by analyzing PD-L1 IHC, holistically integrating morphology and PD-L1 staining intensity. SIGNIFICANCE: The weakly supervised DL model to predict PD-L1 status from raw IHC data, integrating tumor staining intensity and morphology, enables enhanced patient stratification in cancer immunotherapy compared with traditional pathologist assessment.
Subject(s)
Carcinoma, Non-Small-Cell Lung , Deep Learning , Lung Neoplasms , Humans , Carcinoma, Non-Small-Cell Lung/therapy , Lung Neoplasms/therapy , B7-H1 Antigen/analysis , Immunotherapy/methodsABSTRACT
Hybrid neurofibroma/schwannoma is a rare variant of hybrid peripheral nerve sheath tumours (HPNST). A Medline search up to December 2021 identified only six cases of this tumour in the orbit. We report the case of a 78-year-old man who presented with left exophthalmos. Computed tomography showed a left intraconal orbital mass. The clinico-radiological diagnosis was consistent with an intraconal cavernous angioma. Orbitotomy was performed, obtaining an 18×16×11mm mass. Two different morphologies were seen microscopically, diagnostic of hybrid neurofibroma/schwannoma. HPNSTs of the orbit are uncommon and most reported cases showed a hybrid neurofibroma/schwannoma morphology. Hybrid neurofibroma/schwannomas have been associated with neurofibromatosis and schwannomatosis. Local recurrences have been reported. The correct identification of these tumours is important due to their potential use as a syndromic marker.(AU)
El tumor híbrido neurofibroma/schwannoma es una lesión rara incluida dentro de tumores híbridos de la vaina del nervio periférico. Mediante revisión bibliográfica en Medline hasta diciembre de 2021 se identificó solo seis casos de este tumor en la órbita. Presentamos el caso de un varón de 78 años que consultó por exoftalmos izquierdo. La tomografía computarizada mostró una masa orbitaria intraconal izquierda. El diagnóstico clínico-radiológico fue compatible con angioma cavernoso intraconal. Se realizó una orbitotomía, obteniendo una masa de 18×16×11mm. Microscópicamente, el tumor mostró dos morfologías diferentes compatibles con tumor híbrido neurofibroma/schwannoma. Los tumores híbridos de la vaina del nervio periférico de la órbita son poco comunes. La mayoría de los casos informados muestran una morfología híbrida de neurofibroma/schwannoma. El tumor híbrido neurofibroma/schwannoma se ha asociado con neurofibromatosis y schwannomatosis. Se han reportado recurrencias locales. La correcta identificación de estos tumores es relevante debido a su potencial uso como marcador sindrómico.(AU)
Subject(s)
Humans , Male , Aged , Inpatients , Physical Examination , Neurilemmoma , Neurofibroma , Nerve Sheath NeoplasmsABSTRACT
No disponible
Subject(s)
Humans , Pathology , Allied Health Personnel , Specialization , Professional Practice GapsABSTRACT
El tumor vulvar similar a lipoblastoma (LBLTV) fue descrito inicialmente como una neoplasia mesenquimal benigna. Desde entonces, se han reportado únicamente 19 casos. Además, esta entidad no ha sido reconocida aún como diagnóstico separado en la clasificación de la OMS (2013) de los tumores de tejido blando. El diagnóstico diferencial de LBLTV incluye otros tumores de la región vulvoperineal, así como tumores con diferenciación adipocítica, la mayoría de ellos benignos. Por tanto, un diagnóstico erróneo aporta pocas consecuencias clínicas. Sin embargo, LBLTV puede imitar también algunas neoplasias lipomatosas agresivas. Describimos aquí un nuevo caso de LBLTV en una mujer de 28 años, así como una revisión de la literatura.(AU)
Lipoblastoma-like tumor of the vulva (LBLTV) was first described as a benign mesenchymal neoplasia; it was not recognized as a separate diagnosis in the 2013 WHO classification of soft-tissue tumors. To date, only 19 cases have been reported. LBLTV differential diagnosis includes other tumors of the vulvoperineal region and tumors with adipocytic differentiation, most of which are benign and thus a misdiagnosis has few clinical consequences. However, LBLTV may also mimic some aggressive lipomatous neoplasms. We describe a case of LBLTV in a 28 year-old woman and review the literature.(AU)
Subject(s)
Humans , Female , Adult , Vulvar Neoplasms , Lipoblastoma/diagnosis , Adipose Tissue/pathology , Vulvar Neoplasms/diagnosis , Women , AdultABSTRACT
En esta actualización del consenso de la Sociedad Española de Oncología Médica (SEOM) y la Sociedad Española de Anatomía Patológica (SEAP) se revisan los avances producidos en el análisis de biomarcadores en cáncer colorrectal (CCR) avanzado, así como en los marcadores de susceptibilidad del CCR hereditario y los biomarcadores moleculares del CCR localizado. También se evalúan la información publicada recientemente sobre la determinación imprescindible de las mutaciones de KRAS, NRAS y BRAF y la conveniencia de determinar la amplificación del receptor del factor de crecimiento epidérmico 2 (HER2), la expresión de las proteínas de la vía reparadora de ADN y el estudio de las fusiones de NTRK. Desde el punto de vista anatomopatológico, se revisa la importancia de analizar la presencia de células tumorales aisladas o en pequeños grupos de menos de 5 en el frente invasivo tumoral del CCR y su valor pronóstico en el CCR. También se revisa la incorporación de tecnologías pangenómicas, como la secuenciación de nueva generación (next-generation sequencing [NGS]) y la biopsia líquida, en el manejo clínico del paciente con CCR. Todos estos aspectos se desarrollan en la presente guía que, como la anterior, permanecerá abierta a cualquier revisión necesaria en el futuro
This update of the consensus of the Spanish Society of Medical Oncology (Sociedad Española de Oncología Médica - SEOM) and the Spanish Society of Pathology (Sociedad Española de Anatomía Patológica - SEAP), reviews the advances in the analysis of biomarkers in advanced colorectal cancer (CRC) as well as susceptibility markers of hereditary CRC and molecular biomarkers of localized CRC. Recently published information on the essential determination of KRAS, NRAS and BRAF mutations and the possible benefits of determining the amplification of human epidermal growth factor receptor 2 (HER2), the expression of proteins in the DNA repair pathway and the study of NTRK fusions are also evaluated. From a pathological point of view, the importance of analysing the tumour budding and poorly differentiated clusters and its prognostic value in CRC is reviewed, as well as the impact of molecular lymph node analysis on lymph node staging in CRC. The incorporation of pan-genomic technologies, such as next-generation sequencing (NGS) and liquid biopsy in the clinical management of patients with CRC is also outlined. All these aspects are developed in this guide which, like the previous one, will be revised when necessary in the future
Subject(s)
Humans , Biomarkers, Tumor/genetics , Colorectal Neoplasms/genetics , Colorectal Neoplasms/pathology , Societies, Medical/standards , Pathology/methods , Biomarkers, Tumor/standards , Pathology, Clinical/standards , Medical Oncology/organization & administration , Medical Oncology/standards , Pathology/standards , Colorectal Neoplasms, Hereditary Nonpolyposis/pathologyABSTRACT
Antecedentes y objetivos: Aunque existe evidencia científica que demuestra la relación de causalidad del virus papiloma humano (VPH) sobre el carcinoma escamoso de cabeza y cuello, su porcentaje de causalidad en las distintas regiones anatómicas permanece todavía en controversia. El presente estudio tiene como objetivos evaluar la relación del VPH con el carcinoma escamoso de cavidad oral y orofaringe (CECOO) en nuestra población de referencia, y estudiar la correlación entre diferentes pruebas de detección del VPH basadas en métodos de PCR e inmunohistoquímica. Material y método: Estudio retrospectivo en pacientes tratados de CECOO durante el año 2011, con un seguimiento de 6 años. La muestra se dividió en 2 grupos según la positividad a VPH, detectado mediante 2 técnicas: p16 por inmunohistoquímica y PCR. Se analizaron variables demográficas y clínicas mediante SPSS(R) 22.0, considerando una significación estadística con p<0,05. Resultados: Se analizaron 155 pacientes afectos de CECOO (edad media de 62,7 años y un 69% varones). Veintiséis casos resultaron p16+ (16,8%) y 19 casos PCR+ (12,3%). Los tumores VPH+ se localizaron predominantemente en orofaringe (42,1%; p=0,017) y mostraron una tendencia a ser más frecuentes en el sexo masculino, mayor incidencia en pacientes más jóvenes, menos en fumadores y bebedores, y mayor afectación ganglionar cervical en el momento diagnóstico. Los pacientes PCR+ presentaron mayor supervivencia (p=0,024), al igual que los p16+ (p=0,005). Conclusiones: La incidencia de VPH en CECOO en nuestro entorno actualmente es baja (12,3%), pero la presentación clínica y el pronóstico del paciente VPH+ difiere del clásico paciente fumador y/o bebedor, lo que implica valorar el manejo de estos pacientes de forma independiente. La tinción inmunohistoquímica para p16 tiene una gran capacidad diagnóstica para predecir el VPH (95,5%), aunque la herramienta de referencia sigue siendo la detección de secuencias del genoma del VPH
Background and objectives: Although there is scientific evidence demonstrating causation of human papilloma virus (HPV) on squamous cell carcinoma of head and neck, its percentage of causality on the anatomic region remains in dispute. This study was developed with the objectives of evaluating the relationship between HPV and oral and oropharyngeal squamous cell carcinomas (OOSCC), and of studying the correlation between HPV detection tests (PCR and p16). Material and method: Retrospective study of patients treated for OOSCC during 2011, with a follow-up of 6 years. The sample was divided into 2 groups according to HPV positivity, detected by 2 techniques: p16 by immunohistochemistry and PCR. Demographic and clinical variables were analysed using SPSS(R) 22.0, considering P<.05 to be statistically significant. Results: We analysed 155 patients affected by OOSCC (mean age of 62.7, where 69% were males). Twenty six cases were p16+ (16.8%) and 19 cases PCR+ (12.3%), The HPV+ tumours were located predominantly in the oropharynx (42.1%, P=.017) and demonstrated the tendency to be more frequent in males, with higher incidence in younger patients, lower in smokers and drinkers, and higher when patients have a greater cervical lymph node involvement at the time of diagnosis. The PCR+ patients had higher survival (P=.024), as did the p16+ (P=.005). Conclusions: The incidence of HPV in OOSCC is low (12.3%), but the clinical presentation and prognosis of the HPV+ patient differs from the classic smoker and/or drinker, which implies assessing the management of these patients independently. The p16 staining has a great diagnostic capacity to predict HPV (95.5%), although the detection of the HPV genome is still the gold standard technique
Subject(s)
Humans , Male , Female , Middle Aged , Papillomavirus Infections/complications , Carcinoma, Squamous Cell/complications , Oropharyngeal Neoplasms/complications , Mouth/pathology , Immunohistochemistry , Retrospective Studies , Survivorship , Multivariate AnalysisABSTRACT
Los hibernomas cardiacos son muy infrecuentes, y generalmente son infra-diagnosticados pre-mortem debido a su similitud clínico-radiológica con otras lesiones intracardiacas ocupantes de espacio. Además, los hibernomas cardiacos pueden ser asintomáticos y pueden escapar a la detección en los estudios radiológicos. Presentamos el caso de una mujer de 81 años quien falleció como consecuencia de embolismo tumoral pulmonar. Reportamos este caso con el fin de familiarizar a residentes y patólogos con las neoplasias intracardiacas. Se discute su dificultad diagnóstica, además de la embolia tumoral pulmonar como complicación de las neoplasias intracardiacas
Not only ae cardiac hibernomas rare, ante-mortem diagnosis is poor, due to the clinical and radiological similarity with other intracardiac masses. Furthermore, cardiac hibernomas can be asymptomatic and thus escape detection with imaging studies. We present a case of an 81-year-old woman who died as a result of pulmonary tumor embolism. This unusual case highlights the necessity for clinicians and pathologists to be familiar with intra-cardiac neoplasms. We discuss its diagnostic difficulty and the complication of pulmonary tumor embolism
Subject(s)
Humans , Female , Aged, 80 and over , Lipoma/pathology , Heart Neoplasms/pathology , Pulmonary Embolism/pathology , Lung Neoplasms/pathology , Respiratory Insufficiency/etiology , Diagnosis, Differential , Heart Neoplasms/complicationsABSTRACT
Introducción: La linfadenectomía en la cirugía del carcinoma papilar de tiroides se aconseja cuando hay evidencia de metástasis ganglionar cervical (terapéutica) o en pacientes de alto riesgo (profiláctica), como en los tumores T3 y T4 de la clasificación TNM. La técnica de la biopsia selectiva del ganglio centinela puede mejorar el diagnóstico prequirúrgico de las metástasis ganglionares. Objetivo: Analizar el resultado de la biopsia selectiva del ganglio centinela en un grupo de pacientes con carcinoma papilar de tiroides T sin evidencia de afectación ganglionar antes de la cirugía. Pacientes y método: Estudio retrospectivo, unicéntrico en el que se incluyeron los pacientes intervenidos entre los años 2011-2013 que fueran clínicamente N0. La identificación del ganglio centinela se realizó mediante técnica isotópica. En todos los casos, se practicó linfadenectomía del compartimento afecto si el ganglio centinela era positivo, y del compartimento central en caso de ganglio centinela negativo. Resultados: Se incluyeron 43 pacientes, 34 mujeres, con una edad media de 52,3 (±17) años. De los 170 ganglios centinela resecados, 46 (27%) fueron positivos para metástasis, que correspondían a 24 (55,8%) pacientes. En las linfadenectomías se resecaron 612 ganglios. De ellos, 96 (15,6%) fueron positivos para metástasis. Doce de los treinta (40%) pacientes cT1N0 y cT2N0 pasaron a pN1 tras la biopsia selectiva del ganglio centinela, mientras que 12 de los 13 (92%) pacientes cT3N0 y cT4N0, acabaron siendo pN1. Conclusiones: La biopsia selectiva del ganglio centinela recalifica más del 50% de pacientes de cN0 a pN1. Se confirma la necesidad de vaciamiento ganglionar en los tumores T3 y T4, pero pone al descubierto la presencia de metástasis linfáticas en el 40% de los T1-T2 (AU)
Introduction: Lymphadenectomy is recommended during surgery for papillary thyroid carcinoma when there is evidence of cervical lymph node metastasis (therapeutic) or in high-risk patients (prophylactic) such as those with T3 and T4 tumors of the TNM classification. Selective sentinel lymph node biopsy may improve preoperative diagnosis of nodal metastases. Objective: To analyze the results of selective sentinel lymph node biopsy in a group of patients with papillary thyroid carcinoma and no evidence of nodal involvement before surgery. Patients and method: A retrospective, single-center study in patients with papillary thyroid carcinoma and no clinical evidence of lymph node involvement who underwent surgery between 2011 and 2013. The sentinel node was identified by scintigraphy. When the sentinel node was positive, the affected compartment was removed, and when sentinel node was negative, central lymph node dissection was performed. Results: Forty-three patients, 34 females, with a mean age of 52.3 (±17) years, were enrolled. Forty-six (27%) of the 170 SNs resected from 24 (55.8%) patients were positive for metastasis. In addition, 94 (15.6%) out of the 612 lymph nodes removed in the lymphadenectomies were positive for metastases. Twelve of the 30 (40%) low risk patients (cT1N0 and cT2N0) changed their stage to pN1, whereas 12 of 13 (92%) high risk patients (cT3N0 and cT4N0) changed to pN1 stage. Conclusions: Selective sentinel lymph node biopsy changes the stage of more than 50% of patients from cN0 to pN1. This confirms the need for lymph node resection in T3 and T4 tumors, but reveals the presence of lymph node metastases in 40% of T1-T2 tumors (AU)
Subject(s)
Humans , Female , Male , Adult , Middle Aged , Aged , Sentinel Lymph Node Biopsy/methods , Carcinoma, Papillary/diagnosis , Neoplasm Metastasis/diagnosis , Neoplasm Metastasis/pathology , Thyroid Neoplasms/diagnosis , Thyroid Gland/pathology , Triiodothyronine/analysis , Thyroxine/analysis , Retrospective Studies , Lymph Node Excision/methodsABSTRACT
La salpingitis xantogranulomatosa es un proceso inflamatorio poco frecuente, caracterizado por un infiltrado de la mucosa por tejido inflamatorio de granulación conteniendo histiocitos de citoplasma espumoso. Este tipo de inflamación es excepcional a nivel del tracto genital femenino y clásicamente se ha asociado a infecciones bacterianas crónicas, inmunosupresión u otras causas de inflamación crónica. Pero también se ha visto en relación con el carcinoma endometrial, la endometriosis, cuerpos extraños y enfermedad inflamatoria pélvica crónica. El hecho de que acompañe o no a endometriosis genital ha llevado a la diferenciación de 2 tipos de entidades: la salpingitis xantogranulomatosa, sin endometriosis acompañante, y la salpingiosis pseudoxantomatosa. Presentamos 2 casos con su histología e inmunohistoquímica, y se ha revisado la literatura sobre este tipo de inflamaciones crónicas (AU)
Xanthogranulomatous salpingitis is an uncommon inflammatory process, characterized by an infiltration of the mucous by inflammatory granulation tissue with foamy histiocytes. This kind of inflammation is exceptional in the female genital tract; classically, it has been associated with chronic bacterial infections, immunosuppression and other causes of chronic inflammation. However, it has also been found associated with endometrial carcinoma, endometriosis, foreign bodies and chronic pelvic inflammatory disease. As this inflammation may or may not be accompanied by genital endometriosis, 2 entities have been differentiated: xanthogranulomatous salpingitis without endometriosis and pseudoxanthomatous salpingitis. We present 2 cases of this type of chronic inflammation, including immunohistochemistry findings, and we review the pertinent literature (AU)
Subject(s)
Humans , Female , Adult , Middle Aged , Salpingitis/pathology , Oophoritis/diagnosis , Oophoritis/pathology , Inflammation/diagnosis , Inflammation/pathology , Histiocytes/pathology , Immunohistochemistry , Myoma/pathology , Myoma , Hypertrophy/pathology , Myoma/surgery , Antigens, CD20/analysisABSTRACT
La publicación de este documento de consenso es una iniciativa conjunta de la Sociedad Española de Anatomía Patológica y de la Sociedad Española de Oncología Médica, quienes proponen revisar y actualizar las recomendaciones diagnósticas y terapéuticas publicadas hace 2 años para el manejo del paciente con carcinoma colorrectal y el uso de biomarcadores. Por tanto, supone una oportunidad para mejorar la eficiencia de la actividad asistencial y la utilización de recursos en estos pacientes. Este grupo de expertos recomienda determinar el estado de KRAS y NRAS en todos los pacientes con carcinoma colorrectal metastásico en los que se considere la administración de una terapia antirreceptor del factor de crecimiento epidérmico (anti-EGFR), debido a que este tipo de tratamiento solo debe utilizarse en pacientes que no tengan mutaciones en estos genes. En cambio, la determinación del estado mutacional de BRAF, EGFR, PI3K y PTEN no es necesaria para la toma de decisiones terapéuticas y, por tanto, no es necesario realizarlas de forma rutinaria (AU)
The publication of this consensus statement is a joint initiative of the Spanish Society of Pathology (SEAP) and the Spanish Society of Medical Oncology (SEOM), which aims to revise and update the diagnostic and treatment recommendations published two years ago on biomarker use and the management of patients with colorectal carcinoma, with the intention of improving healthcare efficiency and use of resources. This group of experts recommends testing for KRAS and NRAS status in all patients with metastatic colorectal carcinoma being considered for anti-epidermal growth factor receptor (anti-EGFR) therapy, as this type of treatment should only be used in patients not harbouring mutations in these genes. In contrast, testing for BRAF, EGFR, PI3K and PTEN mutation status is not necessary for therapeutic decision-making and therefore does not need to be done routinely (AU)
Subject(s)
Humans , Male , Female , Biomarkers/analysis , Colorectal Neoplasms/diagnosis , Colorectal Neoplasms/pathology , Societies, Medical/organization & administration , Societies, Medical/standards , Epidermal Growth Factor/analysis , Epidermal Growth Factor , Societies, Medical/statistics & numerical data , Societies, Medical , Pathology/methods , Pathology/organization & administration , Pathology/standardsABSTRACT
El estesioneuroblastoma es un tumor maligno de la mucosa olfatoria localizado en el tracto nasosinusal con un manejo controvertido debido a su baja incidencia y a su origen desconocido. La resección craneofacial, empleando un abordaje subfrontal, es uno de los abordajes de elección para el tratamiento de esta compleja entidad. Describimos un caso tratado en nuestra institución que fue resuelto favorablemente con este procedimiento, así como una revisión exhaustiva de la bibliografía con respecto a este tipo de tumor y a las ventajas de este abordaje (AU)
Esthesioneuroblastoma is a rare malignant tumor of the olfactory mucosa located in the sinonasal tract with a controversial management due to its low incidence and unknown origin. Craniofacial resection using a subfrontal approach is one of the techniques of choice for treating this complex entity. We describe a case treated in our institution that responded favorably to this procedure, as well as a thorough review of the literature regarding this type of tumor and the advantages of the approach (AU)
Subject(s)
Humans , Female , Adult , Neuroblastoma/complications , Neuroblastoma/surgery , Neuroblastoma , Esthesioneuroblastoma, Olfactory/complications , Esthesioneuroblastoma, Olfactory/surgery , Esthesioneuroblastoma, Olfactory , Esthesioneuroblastoma, Olfactory/physiopathology , Skull Base/pathology , Skull Base/surgery , Skull Base , Olfactory Mucosa/pathology , Olfactory Mucosa/surgery , Olfactory MucosaABSTRACT
Este documento de consenso nace como una iniciativa conjunta de la Sociedad Española de Anatomía Patológica (SEAP) y de la Sociedad Española de Oncología Médica (SEOM) y propone recomendaciones diagnósticas y terapéuticas para el manejo del paciente con cáncer colorrectal (CCR) hereditario, localizado y avanzado basadas en la evidencia científica que existe en la actualidad sobre el uso de biomarcadores. Por tanto, este documento supone una oportunidad para mejorar la eficiencia de la actividad asistencial y la utilización de recursos, lo que redundará en un beneficio para estos pacientes. Con los datos disponibles en la actualidad, este grupo de expertos recomienda que en los pacientes con CCR localizado se determine la inestabilidad de microsatélites, ya que es un factor predictivo relevante para decidir el tratamiento adyuvante. Sin embargo, aunque las firmas de expresión genética ColoPrint® y Oncotype Dx® han demostrado tener valor pronóstico, no existe todavía consenso sobre su uso en la práctica clínica. En cuanto al CCR avanzado, la determinación del estado mutacional de KRAS es indispensable antes de administrar un tratamiento con anti-receptor del factor de crecimiento epidérmico (EGFR), como cetuximab y panitumumab. Sin embargo, la determinación de otros biomarcadores, como las mutaciones de BRAF, EGFR, PI3K y PTEN, no debe llevarse a cabo de forma rutinaria, ya que hoy por hoy no influye en la planificación del tratamiento. Otros aspectos importantes que incluye son los requisitos organizativos y los controles de calidad que deben existir para la adecuada determinación de estos biomarcadores, así como las implicaciones legales que se deben tener en cuenta(AU)
This consensus is a joint initiative of the Spanish Society of Pathology (SEAP) and the Spanish Society of Medical Oncology (SEOM). Based on scientific evidence of the use of biomarkers, it recommends diagnostic and treatment guidelines for the management of patients with hereditary, localised and advanced colorectal carcinoma (CRC). The aim of the consensus is to improve healthcare and the use of resources, which will result in increased patient benefit. Taking into consideration data currently available, the group of experts recommends testing for microsatellite instability in patients with localised CRC, as this is a strong predictive factor useful in deciding the choice of adjuvant treatment. However, although the ColoPrint® and Oncotype Dx® gene expression signatures have been shown to have prognostic value, no consensus yet exists as to their clinical use. For advanced CRC, it is essential to test for KRAS mutation status before administering an anti-epidermal growth factor receptor (EGFR) treatment, such as cetuximab or panitumumab. However, at present, testing for other biomarkers, such as BRAF, EGFR, PI3K and PTEN mutations, is not indicated as a routine procedure as it does not influence choice of treatment. Other important issues addressed include organisational requirements, necessary quality controls for the correct testing of these biomarkers as well as the pertinent legal implications(AU)
Subject(s)
Humans , Male , Female , Biomarkers/analysis , Biomarkers/metabolism , Colorectal Neoplasms/epidemiology , Societies, Medical/organization & administration , Societies, Medical/standards , Microsatellite Instability , Colorectal Neoplasms/genetics , Lynch Syndrome II/epidemiology , Gene Expression/physiology , Predictive Value of Tests , Colorectal Neoplasms/diagnosis , Societies, Medical/ethics , Societies, Medical/trends , Societies, Medical , Gene Expression Profiling/trendsABSTRACT
Las determinaciones de mutaciones en el gen KRAS en el cáncer colorrectal en España se han venido realizando de manera sistemática en relativamente pocos centros, o bien se han realizado en un contexto de ensayo clínico. No obstante, gracias a la implementación de nuevas herramientas terapéuticas basadas en anticuerpos monoclonales frente al EGFR, el conocimiento del estado mutacional de KRAS es hoy en día un factor clave para la toma de decisiones terapéuticas debido a su valor predictivo negativo de respuesta al uso de dichos tratamientos. Este hecho ha potenciado la necesidad de la implementación de dichas determinaciones en la mayoría de los servicios de Anatomía Patológica de una manera estandarizada dentro de la práctica asistencial. Esta revisión propone una serie de recomendaciones generales con el fin de estandarizar la determinación de las mutaciones de KRAS, exponiendo los diferentes métodos técnicos disponibles, sus características y los aspectos clínicos relacionados, que serán de interés a la hora de incorporar dichas determinaciones en la rutina asistencial(AU)
Various centres in Spain systematically perform mutational status analyses of KRAS in colorectal cancer, some of which are related to various clinical trials. However, in the light of the use of anti-EGFR monoclonal antibodies in the treatment of colorectal cancer, the predictive value of KRAS has become a key factor in therapeutic decision making. Thus there is a growing necessity for the implantation of a standardized method of KRAS mutation analysis in the majority of pathology laboratories. The characteristics and associated clinical aspects of the different techniques available are reviewed and general recommendations for the standardization of KRAS mutation analysis are proposed(AU)
Subject(s)
Humans , Male , Female , Mutation , Colonic Neoplasms/diagnosis , Colonic Neoplasms/pathology , Antibodies, Monoclonal/analysis , Antibodies, Monoclonal , Pathology, Molecular/methods , Pathology, Molecular/trends , Genes, erbB-1 , Oncogene Proteins v-erbB , Pathology, Molecular/organization & administration , Pathology, Molecular/standardsABSTRACT
La identificación de los carcinomas gástricos avanzados con alteraciones de HER2 es esencial en la práctica clínica diaria, ya que estas neoplasias requieren un tratamiento específico con trastuzumab. Por estos motivos, patólogos y oncólogos expertos en carcinoma gástrico y en la determinación de HER2, en representación de las sociedades respectivas (SEAP y SEOM), han trabajado para debatir y consensuar las recomendaciones nacionales de determinación de HER2 en los carcinomas gástricos. Estas recomendaciones se basan no sólo en la experiencia de los participantes en el consenso, sino también en la experiencia internacional publicada. En este consenso se muestran los requisitos mínimos que un laboratorio de anatomía patológica debe cumplir para garantizar la adecuada determinación de HER2 en la práctica diaria. Los laboratorios que carezcan de los estándares mínimos expuestos en esta guía deberían trabajar en alcanzarlo(AU)
The identification of HER2 alterations in advanced gastric carcinomas is critically important in daily clinical practice as such neoplasms require specific treatment with Trastuzumab. For this reason, expert pathologists and oncologists have agreed on national guidelines for HER2 testing in gastric carcinomas. The guidelines are based on the experience of the participants and pertinent recent international publications. They outline the minimum requirements for the Pathology Laboratory in order to guarantee satisfactory routine HER2 testing. The guidelines recommend that any laboratory not fulfilling such requirements make the adjustments necessary for compliance(AU)
Subject(s)
Humans , Male , Female , Societies, Medical/organization & administration , Societies, Medical/trends , Societies, Scientific/trends , Carcinoma/classification , Carcinoma/complications , Gastrointestinal Neoplasms/diagnosis , In Situ Hybridization, Fluorescence/trends , In Situ Hybridization , Immunohistochemistry/methods , Immunohistochemistry , Carcinoma/pathology , Forensic Pathology/methods , Forensic Pathology/trends , Immunohistochemistry/trends , Genes, erbB-2/genetics , Quality ControlABSTRACT
Aportamos un caso de melanoma maligno amelánico que se presentó como un tumor primario en un ganglio intraparotídeo en una mujer de 24 años de edad. Ante las dudas de diagnóstico que presentó en su momento se catalogó como «tumor maligno S-100 positivo» y se consideró como posible metástasis de un melanoma con primario desconocido. Quince años más tarde se confirmó la positividad de Melan-A en las células tumorales y recientemente se comprobó la presencia de mutaciones BRAF tal como ocurre en los melanomas cutáneos. Nunca se ha encontrado un primario y la paciente, 15 años después, presenta excelente estado de salud. Se discute el posible origen de la lesión y su comportamiento excepcional(AU)
We report a case of primary amelanotic malignant melanoma in the intraglandular lymph node of the parotid gland in a 24 year-old woman. The initial diagnosis was S-100 positive malignant tumour, presumed to be a metastasis of a regressive malignant melanoma although a primary was not found. 15 years later, Melan-A expression and BRAF mutations have been identified in tumour cells, comparable to cutaneous melanomas. 15 years postoperatively the patient is alive and free of disease. The possible origin and the behaviour of the lesion are discussed(AU)