RESUMO
Sarcomas characterized by BCOR gene alterations, are a distinct clinico-pathological group of high-grade tumors, that represent 5% of small round cell tumors without EWSR or FUS fusion. Diverse genetic alterations characterize this group, including BCOR-CCNB3 gene fusion being the most common alteration and less frequently internal tandem duplications (ITDs). We present a compelling case of a 3-year-old girl diagnosed with a high-grade nasoethmoidal sarcoma exhibiting BCOR-ITD. The diagnostic process illustrates the histological and immunophenotypic spectrum, requiring an extensive immunohistochemical panel and diverse molecular tests for accurate classification. Additionally, this case highlights the challenges in detecting BCOR-ITDs using different NGS panels, advocating for alternative molecular approaches. Our patient after 10 months since diagnosis is alive with progressive disease. This emphasizes the urgency for ongoing research to refine diagnostic methods and develop effective therapeutic strategies for these rare and aggressive tumors.
RESUMO
BACKGROUND: Dermoscopy is a noninvasive technique for the diagnosis of cutaneous melanoma that may play a role in the preoperative assessment of melanoma thickness. With this technique, several vascular morphologies have been identified. The objectives of this study are to study the presence and morphology of blood vessels in a series of primary melanomas and to investigate whether they are related to the Breslow index, the presence of ulceration, and extensive dermoscopic regression. METHODS: This cross-sectional study included nonacral, nonfacial primary melanomas, with dermoscopic images from four hospitals in Spain. The outcome variables were the Breslow index, the presence of dermoscopic ulceration, and an extensive dermoscopic regression. The explicative variables were the presence of vessels, the predominant vessel in the most raised area of the melanoma, and the presence of polymorphous vessels. To study the association between qualitative variables and the Breslow index, we used the Kruskal-Wallis test or Mann-Whitney U test and between qualitative variables, the χ2 test. To study the magnitude of the association, the ORs (95% CI) were calculated. RESULTS: A set of 516 images from melanomas was collected. The presence of vessels was associated with thicker melanomas (p < 0.001). Vessel type was associated with different Breslow indexes (p < 0.001) (arborizing, linear irregular, corkscrew, glomerular, hairpin, and dotted vessels (in decreasing order)). The polymorphous vessels were associated with thicker melanomas (p < 0.001). Linear irregular vessels were associated with ulceration (OR = 10.6, 95% CI 4.9-24.0, p < 0.001) and dotted vessels with the presence of extensive dermoscopic regression (OR = 2.7, 95% CI 1.4-5.2, p = 0.003). The main limitations of this study were the high selection of cases and the difficulty in identifying vessels in pigmented melanomas by dermoscopy. CONCLUSIONS: The morphology of blood vessels in cutaneous melanoma on dermoscopy is associated with the Breslow index, the presence of ulceration, and extensive dermoscopic regression.
Assuntos
Melanoma , Neoplasias Cutâneas , Humanos , Neoplasias Cutâneas/diagnóstico , Melanoma/diagnóstico por imagem , Dermoscopia , Estudos Transversais , Estudos Retrospectivos , Melanoma Maligno CutâneoAssuntos
Dermatite Alérgica de Contato , Pseudolinfoma , Dermatopatias , Neoplasias Cutâneas , Humanos , Pseudolinfoma/induzido quimicamente , Pseudolinfoma/diagnóstico , Acrilatos/efeitos adversos , Dermatite Alérgica de Contato/complicações , Neoplasias Cutâneas/diagnóstico , Linfócitos T , Dermatopatias/induzido quimicamenteAssuntos
Anticorpos Monoclonais Humanizados/efeitos adversos , Dermatite Atópica/tratamento farmacológico , Eritema/induzido quimicamente , Adulto , Anticorpos Monoclonais Humanizados/administração & dosagem , Eritema/diagnóstico , Eritema/tratamento farmacológico , Humanos , Masculino , Pele/patologiaRESUMO
Polarized dermoscopy enables visualization of linear shiny white structures in melanomas, thought to be due to the existence of fibrosis in the dermis. Our objective was to establish the existence of two types of linear shiny white structures and assess their association with different histological structures. We performed a cross-sectional study including all non-acral, non-facial melanomas from our hospital with linear shiny white structures. The outcome variable was the type of linear shiny white structures: shiny white streaks and white strands. We evaluated their association with explanatory variables that may affect the reflectance of melanomas and Breslow index. We used χ2 statistics and also calculated the sensitivity and specificity of each linear shiny white structure to predict those variables. We detected linear shiny white structures in 118 melanomas. Regarding shiny white streaks, we only found a statistically significant positive relationship with fibrosis in the papillary dermis. Regarding white strands, we found statistically significant and positive relationships with hyperkeratosis, Breslow index of 0.8 mm or more and acanthosis. Sensitivity and specificity study revealed that the presence of shiny white streaks was the most sensitive (81.7%) and specific (72.3%) for fibrosis in the papillary dermis, and presence of white strands was the most sensitive (91.1%) and specific (85.7%) for hyperkeratosis.
Assuntos
Melanoma , Neoplasias Cutâneas , Estudos Transversais , Dermoscopia , Humanos , Estudos RetrospectivosRESUMO
We describe an exceptional case of erythroid sarcoma in a pediatric patient as a growing orbital mass with no evidence of morphologic bone marrow involvement, who was finally diagnosed of pure erythroid sarcoma based on histopathology and flow cytometry criteria. We discuss the contribution of standardized eight-color flow cytometry as a rapid and reliable diagnostic method. The use of normal bone marrow databases allowed us to identify small aberrant populations in bone marrow and later confirm the diagnosis in the neoplastic tissue.
RESUMO
No disponible
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Necrose/induzido quimicamente , Insuficiência Hepática/tratamento farmacológico , Transplante de Fígado , Dermatopatias/induzido quimicamente , Fatores de Risco , Cirrose Hepática/complicaçõesAssuntos
Toxidermias/etiologia , Lipressina/análogos & derivados , Vasoconstritores/efeitos adversos , Aneurisma Roto/complicações , Isquemia Encefálica/complicações , Evolução Fatal , Humanos , Hipotensão/complicações , Aneurisma Intracraniano/complicações , Isquemia/induzido quimicamente , Cirrose Hepática Alcoólica/complicações , Falência Hepática/complicações , Lipressina/efeitos adversos , Masculino , Pessoa de Meia-Idade , Necrose , Púrpura/induzido quimicamente , Pele/irrigação sanguínea , Hemorragia Subaracnóidea/complicações , TerlipressinaRESUMO
El oncocitoma fusocelular de adenohipófisis (OFC) es una neoplasia no endocrina que simula macroadenoma no funcionante y está constituida por células fusiformes ricas en mitocondrias, positivas para proteína S-100, vimentina, galectina 3, EMA y TTF1. En general presenta curso clínico benigno, si bien se ha observado un significativo número de casos recidivantes. En el presente trabajo se describen 2 casos de OFC con los aspectos morfológicos característicos, uno de los cuales recidivó 7 años después del diagnóstico inicial (AU)
Spindle cell oncocytoma (SCO) is a non endocrine tumour that closely resembles a non functioning macroadenoma. SCO is composed of mitochondria-rich fusiform cells, positive for S-100 protein, vimentin, galectine-3, EMA and TTF1. Even though most SCOs have a benign course, a significant number of recidivant cases have been reported. We describe 2 cases of SCO, one of them with a late recurrence occurring 7 years after the initial diagnosis. The clinical and morphological features, immunohistochemistry and the probable origin of this unusual tumour are discussed (AU)
Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Adenoma Oxífilo/diagnóstico , Adenoma Oxífilo/patologia , Adeno-Hipófise/patologia , Doenças da Hipófise/patologia , Hipófise/patologia , Hemianopsia/patologia , Imuno-Histoquímica/métodos , Imuno-Histoquímica/normas , Imuno-Histoquímica , Nevo de Células Epitelioides e Fusiformes/complicações , Nevo de Células Epitelioides e Fusiformes/patologia , Tomografia/métodos , Imuno-Histoquímica/estatística & dados numéricos , Imuno-Histoquímica/tendências , Diagnóstico DiferencialRESUMO
Introducción y objetivo La capacidad de predecir recurrencia en los adenomas hipofisarios (AH) tras la cirugía puede ser útil para determinar la frecuencia de seguimiento y la necesidad de tratamientos adyuvantes. El objetivo del presente estudio fue valorar la capacidad pronóstica de gen transformador de tumores hipofisarios (pituitary tumor transforming gene [PTTG]), del receptor del factor de crecimiento insulinoide 1 (insulin-like growth factor 1 receptor [IGF1R]) y de Ki-67. Material y métodos En este estudio retrospectivo determinamos el número de copias normalizadas de ARNm (Cnn) de PTTG e IGF1R mediante RT-PCR y el índice Ki-67 mediante inmunohistoquímica en 46 muestras de AH. Los datos clínicos, el subtipo histológico y las características radiológicas se recogieron para determinar asociaciones entre las variables y el comportamiento tumoral. Además, estudiamos la progresión de los restos tumorales y su asociación con los marcadores en 14 pacientes sin tratamiento adyuvante posquirúrgico seguidos durante 46 ± 36 meses. Resultados Los tumores extraselares mostraron una expresión de PTTG menor que los intraselares (0,065 [1.er-3.er cuartil: 0,000-0,089] Cnn frente a 0,135 [0,1050,159] Cnn, p = 0,04). La expresión de IGF1R varió en función del subtipo histológico (p = 0,014), siendo mayor en los tumores que presentaron crecimiento de los restos mayor del 20% durante el seguimiento (10,69 ± 3,84 Cnn frente a 5,44 ± 3,55 Cnn, p = 0,014). Conclusiones Nuestros resultados indican que IGF1R, en mayor medida que PTTG, es un marcador molecular útil en el manejo de los AH. Ki-67 no mostró asociación con el comportamiento tumoral. Sin embargo, el potencial de estos marcadores debe ser establecido en futuros estudios con una metodología estandarizada y una muestra mayor (AU)
Introduction and objective The ability to predict recurrence of pituitary adenoma (PA) after surgery may be helpful to determine follow-up frequency and the need for adjuvant treatment. The purpose of this study was to assess the prognostic capacity of pituitary tumor transforming gene (PTTG), insulin-like growth factor 1 receptor (IGF1R), and Ki-67. Materials and methods In this retrospective study, the normalized copy number (NCN) of PTIG and IGF1R mRNA was measured using RT-PCR, and the Ki-67 index was measured by immunohistochemistry in 46 PA samples. Clinical data, histological subtype, and radiographic characteristics were collected to assess associations between variables and tumor behavior. Progression of tumor remnants and its association to markers was also studied in 14 patients with no adjuvant treatment after surgery followed up for 46 ± 36 months. Results Extrasellar tumors had a lower PTTG expression as compared to sellar tumors (0.065 [1st3rd quartile: 0.0000.089] NCN vs. 0.135 [0.1050.159] NCN, p = 0.04). IGF1R expression changed depending on histological subtype (p = 0.014), and was greater in tumor with remnant growth greater than 20% during follow-up (10.69 ± 3.84 NCN vs. 5.44 ± 3.55 NCN, p = 0.014). Conclusions Our results suggest that the IGF1R is a more helpful molecular marker than PTTG in PA management. Ki-67 showed no association to tumor behavior. However, the potential of these markers should be established in future studies with standardized methods and on larger samples(AU)
Assuntos
Humanos , Neoplasias Hipofisárias/patologia , Fator de Crescimento Insulin-Like I/análise , Antígeno Ki-67/análise , Oncogenes , Biomarcadores Tumorais/análise , Detecção Precoce de Câncer/métodosRESUMO
INTRODUCTION AND OBJECTIVE: The ability to predict recurrence of pituitary adenoma (PA) after surgery may be helpful to determine follow-up frequency and the need for adjuvant treatment. The purpose of this study was to assess the prognostic capacity of pituitary tumor transforming gene (PTTG), insulin-like growth factor 1 receptor (IGF1R), and Ki-67. MATERIALS AND METHODS: In this retrospective study, the normalized copy number (NCN) of PTIG and IGF1R mRNA was measured using RT-PCR, and the Ki-67 index was measured by immunohistochemistry in 46 PA samples. Clinical data, histological subtype, and radiographic characteristics were collected to assess associations between variables and tumor behavior. Progression of tumor remnants and its association to markers was also studied in 14 patients with no adjuvant treatment after surgery followed up for 46±36 months. RESULTS: Extrasellar tumors had a lower PTTG expression as compared to sellar tumors (0.065 [1st-3rd quartile: 0.000-0.089] NCN vs. 0.135 [0.105-0.159] NCN, p=0.04). IGF1R expression changed depending on histological subtype (p=0.014), and was greater in tumor with remnant growth greater than 20% during follow-up (10.69±3.84 NCN vs. 5.44±3.55 NCN, p=0.014). CONCLUSIONS: Our results suggest that the IGF1R is a more helpful molecular marker than PTTG in PA management. Ki-67 showed no association to tumor behavior. However, the potential of these markers should be established in future studies with standardized methods and on larger samples.
Assuntos
Biomarcadores Tumorais/análise , Antígeno Ki-67/análise , Proteínas de Neoplasias/biossíntese , Neoplasias Hipofisárias/química , Receptor IGF Tipo 1/biossíntese , Securina/biossíntese , Adulto , Idoso , Antígenos de Neoplasias/análise , Antineoplásicos Hormonais/uso terapêutico , Terapia Combinada , Intervalo Livre de Doença , Agonistas de Dopamina/uso terapêutico , Feminino , Seguimentos , Regulação Neoplásica da Expressão Gênica , Humanos , Hipofisectomia , Masculino , Pessoa de Meia-Idade , Terapia Neoadjuvante , Invasividade Neoplásica , Proteínas de Neoplasias/análise , Proteínas de Neoplasias/genética , Recidiva Local de Neoplasia/epidemiologia , Neoplasias Hipofisárias/classificação , Neoplasias Hipofisárias/tratamento farmacológico , Neoplasias Hipofisárias/patologia , Neoplasias Hipofisárias/cirurgia , Prognóstico , RNA Mensageiro/análise , RNA Mensageiro/biossíntese , RNA Neoplásico/análise , RNA Neoplásico/biossíntese , Receptor IGF Tipo 1/análise , Receptor IGF Tipo 1/genética , Estudos Retrospectivos , Securina/análise , Securina/genética , Somatostatina/análogos & derivados , Somatostatina/uso terapêutico , Resultado do TratamentoRESUMO
Some pituitary adenomas (PA) demonstrate aggressive behavior with local invasion and recurrences. Angiogenesis is regarded as an essential step in the formation of solid tumors. The aim of this study is to find out whether angiogenic factors may have information about the aggressiveness of PA that could be useful in determining the frequency of follow-up and whether adjuvant therapy is necessary. In this retrospective descriptive study, we evaluated vascular endothelial growth factors (VEGF) and VEGF receptor (KDR) mRNA expression by RT-PCR analysis on 46 human PA samples. Clinical data, histological subtype and radiologic characteristics were studied to determine the associations between the variables and the pre-operative behavior of the tumor. In addition, we monitored 12 patients without adjuvant post-operative therapies over 46 months after surgery, determining progression of tumor remnants and its association with these markers. VEGF expression correlates with KDR expression (r = 0.40, p = 0.006). VEGF demonstrates different expression between histological subtypes (p = 0.036). The extension at magnetic resonance imaging showed that VEGF expression was related to suprasellar extension (p = 0.007), being expressed more on tumors with extrasellar growth than intrasellar ones (p = 0.008). Our results demonstrate a 27.5 times increased risk of extrasellar growth when VEGF expression exceeds 0.222 normalized copy number (NCN) (p = 0.002). Likewise, tumors with KDR greater than 0.750 NCN had less recurrence-free survival time (p = 0.032). Our results suggest that the expression of VEGF and its receptor could be a marker for poor outcome after partial tumor resection. These data should be considered in future studies evaluating angiogenic factors as therapeutic targets in patients with PA.
Assuntos
Adenoma/metabolismo , Adenoma/patologia , Neoplasias Hipofisárias/metabolismo , Neoplasias Hipofisárias/patologia , Fator A de Crescimento do Endotélio Vascular/metabolismo , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Receptores Proteína Tirosina Quinases/metabolismo , Receptores de Fatores de Crescimento do Endotélio Vascular/metabolismo , Estudos RetrospectivosRESUMO
BACKGROUND: Histologic diagnosis of cystic pancreatic lesions (CPLs) is often difficult because of the low sensitivity of FNA and brush cytology. OBJECTIVE: To discover whether obtaining biopsy samples from the cystic wall could increase the diagnostic yield of these lesions. DESIGN: A pilot study including 2 patients with CPLs. SETTING: Endoscopy unit in a tertiary-care hospital. PATIENTS: Two women with CPLs located at the pancreatic head. INTERVENTIONS: On EUS, biopsy forceps and a SpyGlass fiberoptic were passed through a 19-gauge needle to visualize and obtain samples from the cystic wall. MAIN OUTCOME MEASUREMENTS: The histologic assessment was based on the obtained biopsy samples. RESULTS: Both CPLs were considered to be mucinous cystoadenomas, because mucinous-like cylindric epithelium without cellular atypia was observed. LIMITATIONS: Pilot study. CONCLUSIONS: Obtaining biopsy samples from the wall of a CPL is now feasible. It represents a significant advantage in the diagnostic yield of this type of lesion.
Assuntos
Biópsia por Agulha Fina/instrumentação , Cistadenoma/patologia , Endoscopia do Sistema Digestório/instrumentação , Endossonografia/instrumentação , Neoplasias Pancreáticas/patologia , Ultrassonografia de Intervenção/instrumentação , Idoso , Diagnóstico Diferencial , Estudos de Viabilidade , Feminino , Seguimentos , Humanos , Pâncreas/patologia , Pancreatite/etiologia , Projetos PilotoRESUMO
El tratamiento neoadyuvante ha sido utilizado en el carcinoma de mama localmente avanzado y en casos de carcinoma inicialmente inoperable. Más recientemente, esta estrategia se ha extendido a casos de cáncer de mama operable estadio ii/iii, especialmente para aumentar las posibilidades de tratamiento quirúrgico conservador. La neoadyuvancia permite además valorar la respuesta del tumor primario a un determinado tipo de quimioterapia y proporciona la oportunidad de cambiar el tratamiento en caso de falta de respuesta. Si bien la respuesta patológica completa es un factor predictivo de supervivencia, no hay consenso en la metodología de evaluación de este importante parámetro patológico y pueden aplicarse diferentes criterios de valoración. Finalmente, la biopsia con aguja gruesa puede proporcionar importante información que ayude a determinar la indicación y tipo de tratamiento neoadyuvante(AU)
Neoadjuvant therapy was first used for locally advanced breast carcinoma and in cases in which the carcinoma is initially inoperable. More recently, it has been extended to include operable, stage II/III carcinomas of the breast to increase the possibility of conservative surgery. Neoadjuvant therapy also allows the response of the primary tumour to a particular type of chemiotherapy to be evaluated and, if necessary, changed, in the absence of tumour response. Although the overall pathological response is a prognositic factor, no consensus has been reached as to the method of evaluation of this important pathological parameter and different criteria may be used in its assessment. Finally, core needle biopsy can provide important information which helps determine the indication for and the type of neoadjuvant therapy(AU)