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1.
Head Neck Pathol ; 18(1): 25, 2024 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-38526767

RESUMO

OBJECTIVE: To review tumors identified as "clear cell sarcoma" in order to determine similarities to the rare EWS fusion positive jaw and salivary gland tumors clear cell odontogenic carcinoma (CCOC) and clear cell carcinoma of the salivary gland (CCC). METHODS: PubMed was used to collect all reports of clear cell sarcoma (CCS). Search parameters were "clear cell sarcoma" and "CCS." References in the publications were screened and cross-referenced. Data extracted included demographic characteristics, presenting signs and symptoms, radiographic findings, histological and immunohistochemical features and known molecular/genetic aberrations. RESULTS: Clear cell sarcoma has several similarities to CCOC and CCC. All three tumor types have similar histologic appearances including the presence of clear cells, as well as similar genetic profiles in that all harbor an EWSR1-CREB family fusions. Additionally, these tumors appear in soft tissue as well as bone, and can have a prolonged clinical course. CCS can appear anywhere in the body, including the head and neck region. All three tumors appear to have a predilection to women, although CCS may have a slight younger age of onset as compared to CCOC and CCC (3rd vs 5th decade of life, respectively). CONCLUSION: Gaining a better understanding of the similarities and differences between these three tumors may lead to a better understanding of each one.


Assuntos
Carcinoma , Tumores Odontogênicos , Neoplasias das Glândulas Salivares , Sarcoma de Células Claras , Humanos , Feminino , Sarcoma de Células Claras/genética , Sarcoma de Células Claras/metabolismo , Sarcoma de Células Claras/patologia , Proteína EWS de Ligação a RNA/genética , Tumores Odontogênicos/patologia , Neoplasias das Glândulas Salivares/genética , Proteínas de Fusão Oncogênica/genética
2.
Rev. argent. coloproctología ; 35(1): 45-48, mar. 2024. ilus
Artigo em Espanhol | LILACS | ID: biblio-1551689

RESUMO

El tumor neuroectodérmico maligno del tracto gastrointestinal es una neoplasia rara con pocos casos reportados en la literatura, especialmente en América Latina. Descrito por primera vez en 2003, se trata de una entidad sin tratamiento estandarizado y de pobre pronóstico. Se presenta el caso de una paciente de 22 años de edad que acude a la consulta por dolor abdominal, anemia y masa abdominal palpable. Luego de estudios pertinentes se decide la conducta resectiva y el posterior tratamiento oncológico. (AU)


Malignant gastrointestinal neuroectodermal tumor (GNET), formerly known as clear cell sarcoma of the gastrointestinal tract, is an extremely rare tumor of mesenchymal origin, which presents great microscopic and molecular similarity to clear cell sarcoma found in other parts of the body, such as tendons and aponeurosis. It is characterized by its rapid evolution, high recurrence rate and frequent diagnosis as metastatic disease.1,2 (AU)


Assuntos
Humanos , Feminino , Adulto Jovem , Sarcoma de Células Claras/patologia , Tumores Neuroectodérmicos/patologia , Neoplasias Gastrointestinais/diagnóstico , Procedimentos Cirúrgicos do Sistema Digestório/métodos , Imuno-Histoquímica , Proteínas S100/análise , Neoplasias Gastrointestinais/cirurgia , Íleo/cirurgia
3.
Rev. esp. cir. ortop. traumatol. (Ed. impr.) ; 68(1): 18-25, Ene-Feb, 2024. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-229665

RESUMO

Introducción: El proceso diagnóstico de los sarcomas de partes blandas del aparato locomotor (SPBAL) sigue siendo comprometido, con casos de resecciones no planificadas (cirugías «whoops»). Este estudio evalúa la frecuencia de este tipo de procedimientos, tratando de identificar características de los pacientes, tumores, tratamiento quirúrgico y resultados. Material y métodos: Se revisan de forma retrospectiva 131 pacientes tratados de forma quirúrgica en nuestro centro entre octubre de 2018 y diciembre de 2021 de un SPBAL. Se excluyen los pacientes con SPBAL localizados en vísceras, mediastino, corazón, retroperitoneo, peritoneo y aparato genital. Las diferencias entre pacientes con resecciones planificadas y no planificadas fueron evaluadas con pruebas χ2 y un modelo de regresión multivariado de Cox. Resultados: Las resecciones no planificadas de SPBAL han tenido lugar en 18% de los pacientes de nuestra área, principalmente en tumores menos de 5 cm y localizados superficiales a la fascia; 29,2% de estos pacientes no disponían de una prueba de imagen previa. No se ha demostrado que una cirugía «whoops» pueda suponer una disminución de la supervivencia o una mayor tasa de recidivas. Conclusiones: Recomendamos la realización de una prueba de imagen siempre previa a la extirpación de cualquier tipo de tumoración de tejidos blandos, así como la adherencia a las guías de remisión a centros de referencia.(AU)


Introduction: The diagnosis process of soft tissue sarcomas of the musculoskeletal system (SPBAL) continues to be complex, with cases of unplanned excisions (“whoops” surgeries). This study evaluates the frequency of these type of procedures, trying to indentify patient characteristics, tumors, surgical treatment and final results. Material and methods: 131 patients treated surgically between October 2018 and December 2021 of a SPBAL were retrospectively reviewed. Patients with SPBAL located in the viscera, mediastinum, heart, retroperitoneum, peritoneum and genital tract were excluded. Differences between patients with planned and unplanned excisions were assessed with chi2 tests and a Cox multivariate regression model. Results: Unplanned excisions of SPBAL have taken place in 18% of the patients in our área, mainly in tumors of less than 5 cm and located superficial to the fascia. 29,2% of these patients did not have a previous imaging test. It has not been shown that a “whoops” surgery can lead to a decrease in survival or a higher rate of recurrences. Conclusions: We recommend carrying out an imaging test always prior to the removal of any type of soft tissue tumor, as well as adherence to the referral guidelines to reference centers.(AU)


Assuntos
Humanos , Masculino , Feminino , Sarcoma de Células Claras/cirurgia , Neoplasias/cirurgia , Atividade Motora , Sarcoma/tratamento farmacológico
4.
Rev. esp. cir. ortop. traumatol. (Ed. impr.) ; 68(1): T18-T25, Ene-Feb, 2024. tab, graf
Artigo em Inglês | IBECS | ID: ibc-229666

RESUMO

Introducción: El proceso diagnóstico de los sarcomas de partes blandas del aparato locomotor (SPBAL) sigue siendo comprometido, con casos de resecciones no planificadas (cirugías «whoops»). Este estudio evalúa la frecuencia de este tipo de procedimientos, tratando de identificar características de los pacientes, tumores, tratamiento quirúrgico y resultados. Material y métodos: Se revisan de forma retrospectiva 131 pacientes tratados de forma quirúrgica en nuestro centro entre octubre de 2018 y diciembre de 2021 de un SPBAL. Se excluyen los pacientes con SPBAL localizados en vísceras, mediastino, corazón, retroperitoneo, peritoneo y aparato genital. Las diferencias entre pacientes con resecciones planificadas y no planificadas fueron evaluadas con pruebas χ2 y un modelo de regresión multivariado de Cox. Resultados: Las resecciones no planificadas de SPBAL han tenido lugar en 18% de los pacientes de nuestra área, principalmente en tumores menos de 5 cm y localizados superficiales a la fascia; 29,2% de estos pacientes no disponían de una prueba de imagen previa. No se ha demostrado que una cirugía «whoops» pueda suponer una disminución de la supervivencia o una mayor tasa de recidivas. Conclusiones: Recomendamos la realización de una prueba de imagen siempre previa a la extirpación de cualquier tipo de tumoración de tejidos blandos, así como la adherencia a las guías de remisión a centros de referencia.(AU)


Introduction: The diagnosis process of soft tissue sarcomas of the musculoskeletal system (SPBAL) continues to be complex, with cases of unplanned excisions (“whoops” surgeries). This study evaluates the frequency of these type of procedures, trying to indentify patient characteristics, tumors, surgical treatment and final results. Material and methods: 131 patients treated surgically between October 2018 and December 2021 of a SPBAL were retrospectively reviewed. Patients with SPBAL located in the viscera, mediastinum, heart, retroperitoneum, peritoneum and genital tract were excluded. Differences between patients with planned and unplanned excisions were assessed with chi2 tests and a Cox multivariate regression model. Results: Unplanned excisions of SPBAL have taken place in 18% of the patients in our área, mainly in tumors of less than 5 cm and located superficial to the fascia. 29,2% of these patients did not have a previous imaging test. It has not been shown that a “whoops” surgery can lead to a decrease in survival or a higher rate of recurrences. Conclusions: We recommend carrying out an imaging test always prior to the removal of any type of soft tissue tumor, as well as adherence to the referral guidelines to reference centers.(AU)


Assuntos
Humanos , Masculino , Feminino , Sarcoma de Células Claras/cirurgia , Neoplasias/cirurgia , Atividade Motora , Sarcoma/tratamento farmacológico
5.
Clin Nucl Med ; 49(5): 468-469, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38377388

RESUMO

ABSTRACT: 18 F-FDG PET/CT was performed in a 1-year-old girl who had a heterogeneous mass in the right abdominal cavity revealed by abdominal ultrasound. A heterogeneous mass with internal necrosis, cystic changes, and hemorrhage in the right kidney, accompanied by a slight increase of FDG uptake, was observed in FDG PET/CT. Malignant renal tumor was considered, and Wilms tumor was preferentially suspected. However, the mass was demonstrated as clear cell sarcoma of the kidney by histopathological examination.


Assuntos
Neoplasias Renais , Sarcoma de Células Claras , Feminino , Humanos , Lactente , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Fluordesoxiglucose F18 , Sarcoma de Células Claras/diagnóstico por imagem , Rim/patologia , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/patologia
6.
BMC Med Imaging ; 24(1): 13, 2024 01 05.
Artigo em Inglês | MEDLINE | ID: mdl-38182986

RESUMO

BACKGROUND: To investigate the role of CT radiomics in distinguishing Wilms tumor (WT) from clear cell sarcoma of the kidney (CCSK) in pediatric patients. METHODS: We retrospectively enrolled 83 cases of WT and 33 cases of CCSK. These cases were randomly stratified into a training set (n = 81) and a test set (n = 35). Several imaging features from the nephrographic phase were analyzed, including the maximum tumor diameter, the ratio of the maximum CT value of the tumor solid portion to the mean CT value of the contralateral renal vein (CTmax/CT renal vein), and the presence of dilated peritumoral cysts. Radiomics features from corticomedullary phase were extracted, selected, and subsequently integrated into a logistic regression model. We evaluated the model's performance using the area under the curve (AUC), 95% confidence interval (CI), and accuracy. RESULTS: In the training set, there were statistically significant differences in the maximum tumor diameter (P = 0.021) and the presence of dilated peritumoral cysts (P = 0.005) between WT and CCSK, whereas in the test set, no statistically significant differences were observed (P > 0.05). The radiomics model, constructed using four radiomics features, demonstrated strong performance in the training set with an AUC of 0.889 (95% CI: 0.811-0.967) and an accuracy of 0.864. Upon evaluation using fivefold cross-validation in the training set, the AUC remained high at 0.863 (95% CI: 0.774-0.952), with an accuracy of 0.852. In the test set, the radiomics model achieved an AUC of 0.792 (95% CI: 0.616-0.968) and an accuracy of 0.857. CONCLUSION: CT radiomics proves to be diagnostically valuable for distinguishing between WT and CCSK in pediatric cases.


Assuntos
Cistos , Neoplasias Renais , Sarcoma de Células Claras , Tumor de Wilms , Humanos , Criança , Estudos Retrospectivos , Sarcoma de Células Claras/diagnóstico por imagem , Neoplasias Renais/diagnóstico por imagem , Rim , Tomografia Computadorizada por Raios X
7.
J Investig Med High Impact Case Rep ; 12: 23247096231225869, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38229428

RESUMO

Gastrointestinal clear cell sarcoma (GICCS)/malignant gastrointestinal neuroectodermal tumor (GNET) is an extremely rare form of cancer with aggressive clinical behavior. It has distinct pathological, immunohistochemical, ultrastructural, and molecular features. Herein, we present the case of a 20-year-old woman with no notable medical history who presented to the outpatient department with complaints of abdominal pain and vomiting. Symptoms had been evolving for 3 months. The physical examination revealed slight abdominal tenderness and melena. Biological investigations revealed iron-deficiency anemia. The upper and lower endoscopies showed no abnormalities. Magnetic resonance enterography revealed small bowel wall thickening of 15 mm × 2 mm. Exploratory laparotomy revealed an ileal mass with mesenteric lymphadenopathy. A wide resection of the mass was then performed. The final pathological report confirmed the diagnosis of small bowel GICCS/GNET. After 11 months of follow-up, the patient presented with mesenteric lymph node metastases.


Assuntos
Neoplasias Duodenais , Neoplasias Gastrointestinais , Tumores Neuroectodérmicos , Sarcoma de Células Claras , Feminino , Humanos , Adulto Jovem , Adulto , Sarcoma de Células Claras/diagnóstico , Sarcoma de Células Claras/patologia , Sarcoma de Células Claras/cirurgia , Intestino Delgado/patologia , Neoplasias Gastrointestinais/patologia , Tumores Neuroectodérmicos/diagnóstico , Tumores Neuroectodérmicos/patologia , Tumores Neuroectodérmicos/cirurgia
8.
Neuroradiol J ; 37(1): 119-122, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36943682

RESUMO

Clear cell sarcoma of the kidney (CCSK) is a rare primary renal tumor in children. It is known for its propensity to metastasize to bones and lungs at initial diagnosis. Distant metastatic relapses occur in about 15-16% of the patients, with the brain being the most frequent site of relapse. Imaging features of brain metastases from CCSK have only been reported in a few cases and most reports lack a detailed description of the imaging findings. We present brain magnetic resonance imaging (MRI) findings in an infant with relapsed CCSK who developed multiple parenchymal metastases with concentric signal alterations and no tumor-associated edema.


Assuntos
Neoplasias Encefálicas , Neoplasias Renais , Sarcoma de Células Claras , Criança , Lactente , Humanos , Sarcoma de Células Claras/diagnóstico por imagem , Sarcoma de Células Claras/patologia , Rim/patologia , Neoplasias Renais/diagnóstico por imagem , Neoplasias Renais/patologia , Neoplasias Encefálicas/patologia , Imageamento por Ressonância Magnética
9.
Pediatr Dev Pathol ; 27(1): 90-95, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37818644

RESUMO

EWSR1::CREM gene fusions are increasingly being recognized in a diverse number of soft tissue tumors, including well-defined entities such as angiomatoid fibrous histiocytoma or clear cell sarcoma, and other unclassifiable tumors. As a group, EWSR1::CREM fused tumors often demonstrate primitive spindle or epithelioid cells, myxoid stroma, and a broad immunophenotype. Herein we present an unusual case of a child diagnosed with an intranasal malignant myxoid tumor harboring an EWSR1::CREM gene fusion. To the best of our knowledge, this is the first case of intranasal myxoid tumor with this particular fusion. Diagnosis and management of the case is discussed.


Assuntos
Histiocitoma Fibroso Maligno , Sarcoma de Células Claras , Neoplasias de Tecidos Moles , Criança , Humanos , Histiocitoma Fibroso Maligno/genética , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/patologia , Fusão Gênica , Proteínas de Fusão Oncogênica/genética , Biomarcadores Tumorais/genética , Modulador de Elemento de Resposta do AMP Cíclico/genética , Proteína EWS de Ligação a RNA/genética
10.
Clin Nucl Med ; 49(1): 86-88, 2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-38015748

RESUMO

ABSTRACT: Clear cell sarcoma, a highly aggressive cell sarcoma with melanotic differentiation, typically occurs in the tendon and aponeuroses of the lower extremities and rarely develops in the intra-articular region. Herein, we present an extremely rare case of clear cell sarcoma originating from the intra-articular knee and suspected as benign tumors due to the benign-looking findings on MRI and PET/CT. The image results in our case were completely consistent with a tenosynovial giant cell tumor, resulting in the misdiagnosis. For differential diagnosis, especially malignant melanoma, histopathology, including IHC and FISH, was indispensable.


Assuntos
Tumor de Células Gigantes de Bainha Tendinosa , Sarcoma de Células Claras , Humanos , Sarcoma de Células Claras/diagnóstico por imagem , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Tumor de Células Gigantes de Bainha Tendinosa/patologia , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/patologia , Extremidade Inferior/patologia
11.
Oral Oncol ; 147: 106604, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37879148

RESUMO

BACKGROUND: Clear cell sarcoma of soft tissue is an exceptionally rare sarcoma. It is even rarer in the oral cavity. To our knowledge, this case is the first reported clear cell sarcoma involving the post-molar area. Pathologically, clear cell sarcoma has low mitotic activity, rare nuclear pleomorphism, and necrosis. Its biological behavior is often underestimated by morphology. It is a highly aggressive tumor. CASE REPORT: A 39-year-old female presented with an asymptomatic mass in the post-molar area. It was mistaken for a benign or low-grade malignant tumor based on frozen incisional biopsy samples. The surgical resection sample was tested by NGS, which detected a rare EWSR1::CREB1 in clear cell sarcoma. The final diagnosis was made by combining morphological, immunohistochemical, and molecular test results. The patient did not receive any adjuvant therapy after surgery and no recurrence of the disease was detected at 8 months of follow-up. CONCLUSION: The study highlights that mild histological manifestation in the oral cavity should be considered the possibility of CCS affecting young patients. Careful histological investigation, sufficient immunohistochemical staining, and molecular tests are essential to the diagnosis.


Assuntos
Sarcoma de Células Claras , Feminino , Humanos , Adulto , Sarcoma de Células Claras/diagnóstico , Sarcoma de Células Claras/cirurgia , Sarcoma de Células Claras/patologia
12.
Bone Joint J ; 105-B(11): 1216-1225, 2023 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-37907082

RESUMO

Aims: Clear cell sarcoma (CCS) of soft-tissue is a rare melanocytic subtype of mesenchymal malignancy. The aim of this study was to investigate the clinical and therapeutic factors associated with increased survival, stratified by clinical stage, in order to determine the optimal treatment. Methods: The study was a retrospective analysis involving 117 patients with histologically confirmed CCS, between July 2016 and November 2017, who were enrolled in the Bone and Soft Tissue Tumour Registry in Japan. Results: The five- and ten-year survival rates were 41% (95% confidence interval (CI) 29 to 52) and 37% (95% CI 25 to 49), respectively. On multivariable analysis, the size of the tumour of > 10 cm (p = 0.006), lymph node metastasis at the time of diagnosis (p < 0.001), distant metastases at the time of diagnosis (p < 0.001), and no surgery for the primary tumour (p = 0.019) were independently associated with a poor survival. For N0M0 CCS (n = 68), the development of distant metastases was an independent prognostic factor for survival (early (< 12 months), hazard ratio (HR) 116.78 (95% CI 11.69 to 1,166.50); p < 0.001; late (> 12 months), HR 14.79 (95% CI 1.66 to 131.63); p = 0.016); neoadjuvant/adjuvant chemotherapy (p = 0.895) and/or radiotherapy (p = 0.216) were not significantly associated with survival. The five-year cumulative incidence of local recurrence was 19% (95% CI 8 to 35) and the size of the tumour was significantly associated with an increased rate of local recurrence (p = 0.012). For N1M0 CCS (n = 18), the risk of mortality was significantly lower in patients who underwent surgery for both the primary tumour and lymph node metastases (HR 0.03 (95% CI 0.00 to 0.56); p = 0.020). For M1 CCS (n = 31), excision of the primary tumour was independently associated with better survival (HR 0.26 (95% CI 0.09 to 0.76); p = 0.013). There was no significant difference in survival between the different types of systemic treatment (p = 0.523). Conclusion: Complete excision of the primary tumour and lymph nodes is associated with a better survival in patients with CCS. Systemic treatment appears to provide limited benefits, demonstrating a pressing need for novel systemic agents.


Assuntos
Sarcoma de Células Claras , Humanos , Sarcoma de Células Claras/terapia , Estudos Retrospectivos , Modelos de Riscos Proporcionais , Terapia Neoadjuvante , Quimioterapia Adjuvante , Recidiva Local de Neoplasia/patologia
13.
Oncology (Williston Park) ; 37(10): 412-416, 2023 10 10.
Artigo em Inglês | MEDLINE | ID: mdl-37877807

RESUMO

Clear cell sarcoma (CCS) is a rare but aggressive malignancy that typically occurs in young adults and is characterized by soft tissue tumors of the extremities. CCS can be difficult to distinguish from metastatic melanoma based solely on histology and immunohistochemistry (IHC) because of the significant overlap between them. However, it is imperative to get an accurate clinical diagnosis, as it informs disease staging and treatment options for patient care. Present in approximately 75% of CCS cases, the EWSR1 gene rearrangement detected by fluorescence in situ hybridization (FISH) can help with establishing a diagnosis; the underlying reciprocal translocation has never been reported in cutaneous melanoma. We reviewed a case of a young woman who presented with a confusing picture of widespread lymphadenopathy, cutaneous metastases, and electrolyte derangements and was subsequently diagnosed with metastatic CCS.This case suggests possible value in performing molecular testing when a clinical picture does not correspond with what is expected for melanoma. It also raises the question of whether CCS cases may be underreported. This case highlights an uncommon presentation that may not be recognized as a manifestation of CCS by an oncologist who is not a sarcoma specialist. It is unclear how COVID-19 vaccination contributed to her clinical presentation, and it is also unclear whether an early diagnosis would have changed her clinical outcome.


Assuntos
Melanoma , Sarcoma de Células Claras , Neoplasias Cutâneas , Neoplasias de Tecidos Moles , Feminino , Adulto Jovem , Humanos , Sarcoma de Células Claras/diagnóstico , Sarcoma de Células Claras/genética , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Vacinas contra COVID-19 , Hibridização in Situ Fluorescente
14.
J Cutan Pathol ; 50(12): 1116-1118, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37844955

RESUMO

As dermatopathologists, we routinely diagnose melanocytic nevi, melanomas, and occasionally melanocytomas in our daily clinical practice. However, it is now clearly established that the presence of melanocytic differentiation in a tumor does not necessarily indicate any of the aforementioned diagnoses. Tumors such as clear cell sarcoma, malignant melanotic nerve sheath tumor, PEComa, melanotic neuroectodermic tumor of infancy, and even certain translocation-associated renal cell carcinomas all share the common characteristic of melanin synthesis. Over the past two decades, with the advent of molecular diagnostics, there has been an explosion of new data and discoveries in this field. Examples such as CRTC1::TRIM11 cutaneous tumors and MITF pathway-activated melanocytic tumors (ACTIN::MITF and MITF::CREM) have been incorporated into the latest edition of the WHO classification of skin tumors (5th ed). In a recent issue, Alexandrescu et al. reported another case of a dermal/subcutaneous melanocytic tumor harboring a MITF::CREM1 translocation. In a separate paper within the current issue, Li et al. present a case of clear cell sarcoma with the rare EWSR1::CREM fusion, which had initially been misdiagnosed as melanoma with regional and distant metastases. We warmly welcome these two very interesting and high-quality articles to our journal, and we eagerly anticipate what the future holds for this fascinating category of tumors.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Melanoma , Sarcoma de Células Claras , Neoplasias Cutâneas , Humanos , Biomarcadores Tumorais , Diferenciação Celular , Melanoma/diagnóstico , Melanoma/genética , Sarcoma de Células Claras/diagnóstico , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Proteínas com Motivo Tripartido , Ubiquitina-Proteína Ligases
15.
J Cancer Res Ther ; 19(5): 1468-1470, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37787333

RESUMO

The differential diagnosis for an abdominal mass in a 2-year-old child is broad and includes lesions of renal, hepatic, gastrointestinal, adrenal, and lymphatic origins. Of these, Wilms' tumor and neuroblastoma are the most common tumors, where Wilms' tumor represents about 92% of renal masses in children. Non-Wilms' renal tumors, rhabdoid tumors, and clear cell sarcoma of the kidney (CCSK) are uncommon. CCSK constitutes approximately 3% of all malignant renal tumors in childhood. In this report, we present a child presenting with a huge renal mass consistent with Wilms' tumor on computed tomography and initial biopsy. However, the final pathologic diagnosis after resection revealed CCSK.


Assuntos
Neoplasias Renais , Sarcoma de Células Claras , Tumor de Wilms , Humanos , Pré-Escolar , Sarcoma de Células Claras/diagnóstico , Sarcoma de Células Claras/cirurgia , Sarcoma de Células Claras/patologia , Tumor de Wilms/diagnóstico , Tumor de Wilms/cirurgia , Tumor de Wilms/patologia , Rim/diagnóstico por imagem , Rim/patologia , Neoplasias Renais/diagnóstico , Neoplasias Renais/cirurgia , Neoplasias Renais/patologia , Biópsia
16.
JBJS Case Connect ; 13(3)2023 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-37733897

RESUMO

CASE: A 23-year-old woman sustained a skin defect in the anterior ankle involving the extensor retinaculum (ER) and 10 cm of extensor tendons (ETs) after a wide resection of clear cell sarcoma. The skin defect was reconstructed with free latissimus dorsi flap, ER with tensor fascia lata, and ETs with 2-staged tendon reconstruction using silicone rod interposition, followed by semitendinosus and gracilis tendon grafts. Four years postoperatively, she achieved 92% of ankle and 70% of great toe motion of the contralateral side. CONCLUSION: This reconstruction technique was useful for a large soft-tissue defect at the anterior ankle.


Assuntos
Procedimentos de Cirurgia Plástica , Sarcoma de Células Claras , Feminino , Humanos , Adulto Jovem , Adulto , Tornozelo , Sarcoma de Células Claras/cirurgia , Articulação do Tornozelo , Tendões
17.
Eur J Nucl Med Mol Imaging ; 51(1): 196-201, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37714979

RESUMO

PURPOSE: Intracytoplasmic melanin pigment is a characteristic of clear cell sarcoma (CCS), which is a particularly deadly type of soft-tissue sarcoma. [18F]-N-(2-(diethylamino)ethyl)-5-(2-(2-(2-fluoroethoxy)ethoxy)ethoxy)picolinamide ([18F]-PFPN) is a positron emission tomography (PET) probe characterized by high melanin affinity. Therefore, this study aimed to investigate the feasibility of melanin-targeted [18F]-PFPN PET in patients with CCS. METHODS: This prospective single-centre study recruited patients with pathologically confirmed CCS. [18F]-FDG PET/computed tomography and [18F]-PFPN PET/magnetic resonance imaging scans were performed within 1 week of each other. The lesion numbers and [18F]-FDG and [18F]-PFPN PET parameters (maximum standardized uptake value [SUVmax], mean standardized uptake value [SUVmean], metabolic/melanotic tumour volume [MTV/MLTV], and total lesion glycolysis/melanin [TLG/TLM]) were collected. RESULTS: Three patients with CCS were recruited and received PET imaging. A total of 56 lesions were detected on [18F]-PFPN PET, including primary tumour and distant metastases. Identical lesions were not detected on [18F]-PFPN and [18F]-FDG PET. Twelve lesions (12/39, 30.77%) on [18F]-FDG imaging were missed on [18F]-PFPN, and 20 lesions (20/47, 42.55%) on [18F]-PFPN imaging were missed on [18F]-FDG. In quantitative analysis, the [18F]-FDG SUVmean (4.60 ± 3.24) was higher than the [18F]-PFPN SUVmean (3.0 ± 2.63) in all lesions (P = 0.01). No significant correlations were found between the SUVmax, SUVmean, MLTV/MTV, and TLM/TLG values of [18F]-PFPN and [18F]-FDG (P > 0.05). CONCLUSION: Melanin-targeted [18F]-PFPN PET imaging is feasible for the diagnosis of CCS. Different imaging features were displayed on [18F]-PFPN and [18F]-FDG PET imaging, demonstrating the complementary role of the tracers. Combined use of the two imaging modalities would be preferred in patients with CCS. CLINICAL TRIAL REGISTRATION: NCT05963035.


Assuntos
Fluordesoxiglucose F18 , Sarcoma de Células Claras , Humanos , Fluordesoxiglucose F18/metabolismo , Melaninas , Estudos Prospectivos , Tomografia por Emissão de Pósitrons/métodos , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Estudos Retrospectivos , Carga Tumoral
18.
Diagn Cytopathol ; 51(12): E355-E363, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37737042

RESUMO

Clear cell sarcoma of soft tissue (CCSST) is a rare soft tissue sarcoma occurring in young adults with a predilection for deep soft tissues of the distal extremities. Its overlapping morphology and immunohistochemical profile pose a diagnostic challenge. Herein, we present a rare case of CCSST with a unique immunohistochemical profile arising in an uncommon location. A 36-year-old male presented with a progressively increasing painful swelling in the left supraclavicular region for the last 2 months. Positron emission tomography showed FDG-avid lesions in the left supraclavicular and scapular regions. Fine needle aspiration cytology (FNAC) followed by core needle biopsy was performed. The cytology smears showed predominantly discohesive sheets of polygonal tumor cells with prominent macronucleoli in a vacuolated background. On immunocytochemistry, tumor cells showed positivity for vimentin, HMB45, and S100, confirming the diagnosis of CCSST. Histopathological examination showed sheets of similar tumor cells that were positive for vimentin, HMB45, melan A, CD38, and CD138, representing a potential diagnostic pitfall in the index case. The index report, besides highlighting the characteristic pathologic features of CCSST and its mimics, is unique due to the diffuse positivity of the tumor cells for CD38 and CD138. It is imperative to be aware of this diagnostic pitfall as it may muddle the diagnosis of CCSST.


Assuntos
Sarcoma de Células Claras , Neoplasias de Tecidos Moles , Adulto , Humanos , Masculino , Imuno-Histoquímica , Sarcoma de Células Claras/diagnóstico , Sarcoma de Células Claras/patologia , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/patologia , Vimentina
20.
Virchows Arch ; 483(4): 569-575, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37550584

RESUMO

Cutaneous tumors with melanocytic differentiation represent a broad group of neoplasms of both melanocytic and non-melanocytic origin. Besides traditional members such as clear-cell sarcoma (CCS) and PEComa, the latter group has recently expanded to also include MITF::CREM fusion-associated tumors, but the available data are limited. Herein, we present a third case of this rare neoplasm which occurred in the temporal region in a 1-year-old girl. It was an infiltratively growing polypoid dermal-based lesion lacking an intraepidermal component. It consisted of cellular solid sheets or small nests of epithelioid to spindled cells with a predominantly eosinophilic and much less commonly clear cytoplasm. The nuclei had round to ovoid shape and exhibited moderate to high-grade atypia and prominent nucleoli. The mitotic activity was 11 mitoses per 10 high-power fields, and atypical mitotic figures were present. Immunohistochemically, the tumor was strongly positive with S100 protein, SOX10, and MITF, while HMB45, tyrosinase, and Melan A were negative. Extensive molecular analysis revealed only MITF::CREM gene fusion. There had no evidence of disease 9 months after the diagnosis. These tumors need to be distinguished from malignant tumors with melanocytic differentiation, primarily from melanoma. However, additional cases still need to be studied to precisely define their biological potential and establish their nosologic status.


Assuntos
Melanoma , Sarcoma de Células Claras , Neoplasias Cutâneas , Feminino , Humanos , Lactente , Neoplasias Cutâneas/patologia , Melanoma/diagnóstico , Melanócitos/patologia , Sarcoma de Células Claras/genética , Diferenciação Celular , Biomarcadores Tumorais/análise , Fator de Transcrição Associado à Microftalmia/genética , Fator de Transcrição Associado à Microftalmia/metabolismo , Modulador de Elemento de Resposta do AMP Cíclico/metabolismo
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