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2.
Skeletal Radiol ; 52(1): 129-135, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35943545

RESUMO

The risk of tuberculosis (TB) increases in immunocompromised patients. Multiple myeloma is considered a risk factor for TB and myeloma patients with TB have a higher mortality rate than those without TB. Herein, we report a case of concomitant TB of the iliotibial band mimicking a soft tissue tumor and tuberculous trochanteric bursitis in a patient with multiple myeloma. In this article, the characteristic magnetic resonance imaging (MRI) findings were low T2 signals in the cystic fluid lesion, a dark T2 signal rim, and peripheral rim enhancement. These results could help differentiate TB of the iliotibial band and trochanteric bursitis from other pathologies. If the abovementioned findings were observed in immunocompromised patients, extrapulmonary TB may be expected even if chest radiographs are normal.


Assuntos
Bursite , Mieloma Múltiplo , Neoplasias de Tecidos Moles , Tuberculose , Humanos , Articulação do Quadril/diagnóstico por imagem , Bursite/diagnóstico por imagem , Bursite/complicações , Tuberculose/diagnóstico por imagem , Imageamento por Ressonância Magnética , Neoplasias de Tecidos Moles/diagnóstico por imagem , Neoplasias de Tecidos Moles/complicações
3.
Genes Chromosomes Cancer ; 62(1): 52-56, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35932215

RESUMO

Extraskeletal myxoid chondrosarcoma (EMC) is a rare soft tissue neoplasm of uncertain lineage characterized by the pathognomonic rearrangement of the NR4A3 gene, which in most cases is fused with EWSR1. Other NR4A3 fusion partners have been described, namely TAF15, FUS, TCF12, and TGF. Some studies suggest that EMCs with non-EWSR1 variant fusion are associated with high-grade morphology and worst clinical behavior compared to EWSR1::NR4A3 tumors, supporting the potential significance of particular fusion variant in EMC. We report a case of a 34-year-old male who presented with calf EMC and subsequently developed a slowly progressive metastatic disease 3 years after diagnosis. Whole-transcriptome analysis with total RNA sequencing enabled identification of a novel fusion transcript LSM14A::NR4A3, expanding the molecular spectrum of EMC.


Assuntos
Condrossarcoma , Receptores de Esteroides , Neoplasias de Tecidos Moles , Masculino , Humanos , Adulto , Receptores dos Hormônios Tireóideos/genética , Receptores de Esteroides/genética , Proteínas de Fusão Oncogênica/genética , Condrossarcoma/patologia , Neoplasias de Tecidos Moles/genética , Proteínas de Ligação a DNA
4.
Genes Chromosomes Cancer ; 62(1): 5-16, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35763541

RESUMO

The RREB1::MRTFB (former RREB1::MKL2) fusion characterizes ectomesenchymal chondromyxoid tumors (EMCMT) of the tongue. Only five molecularly confirmed extra-glossal EMCMT cases have been reported recently; all occurring at head and neck or mediastinal sites. We herein describe five new cases including the first two extracranial/extrathoracic cases. The tumors occurred in three male and two female patients with an age ranging from 18 to 61 years (median, 28). Three tumors were located in the head and neck (jaw, parapharyngeal space, and nasopharyngeal wall) and two in the soft tissue (inguinal and presacral). The tumor size ranged from 3.3 to 20 cm (median, 7). Treatment was surgical without adjuvant treatment in all cases. Two cases were disease-free at 5 and 17 months; other cases were lost to follow-up. Histologically, the soft tissue cases shared a predominant fibromyxoid appearance, but with variable cytoarchitectural pattern (cellular perineurioma-like whorls and storiform pattern in one case and large polygonal granular cells embedded within a chondromyxoid stroma in the other). Two tumors (inguinal and parapharyngeal) showed spindled to ovoid and round cells with a moderately to highly cellular nondescript pattern. One sinonasal tumor closely mimicked nasal chondromesenchymal hamartoma (NCMH). Mitotic activity was low (0-5 mitoses/10 hpfs). Immunohistochemical findings were heterogeneous with variable expression of S100 (2/5), EMA (2/3), CD34 (1/4), desmin (1/4), and GFAP (1/3). Targeted RNA sequencing revealed the same RREB1::MRTFB fusion in all cases, with exon 8 of RREB1 being fused to exon 11 of MRTFB. This study expands the topographic spectrum of RREB1::MRTFB fusion-positive mesenchymal neoplasms, highlighting a significant morphological and phenotypic diversity. Overall, RREB1::MRTFB-rearranged neoplasms seem to fall into two subcategories: tumors with lobulated, chondroid, or myxochondroid epithelioid morphology (Cases 2 and 3) and those with more undifferentiated hypercellular spindle cell phenotype (Cases 1, 4, and 5). Involvement of extracranial/extrathoracic sites and the NCMH-like pattern are novel. The biology of these likely indolent or benign tumors remains to be verified in the future.


Assuntos
Mioepitelioma , Neoplasias de Tecidos Moles , Neoplasias da Língua , Masculino , Feminino , Humanos , Biomarcadores Tumorais/genética , Neoplasias da Língua/genética , Fusão Gênica , Fenótipo , Neoplasias de Tecidos Moles/patologia , Proteínas de Ligação a DNA/genética , Fatores de Transcrição/genética
5.
Genes Chromosomes Cancer ; 62(1): 17-26, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35801295

RESUMO

Next-generation sequencing (NGS) assays can sensitively detect somatic variation, and increasingly can enable the identification of complex structural rearrangements. A subset of infantile spindle cell sarcomas, particularly congenital mesoblastic nephromas with classic or mixed histology, have structural rearrangement in the form of internal tandem duplications (ITD) involving EGFR. We performed prospective analysis to identify EGFR ITD through clinical or research studies, as well as retrospective analysis to quantify the frequency of EGFR ITD in pediatric sarcomas. Within our institution, three tumors with EGFR ITD were prospectively identified, all occurring in patients less than 1 year of age at diagnosis, including two renal tumors and one mediastinal soft tissue tumor. These three cases exhibited both cellular and mixed cellular and classic histology. All patients had no evidence of disease progression off therapy, despite incomplete resection. To extend our analysis and quantify the frequency of EGFR ITD in pediatric sarcomas, we retrospectively analyzed a cohort of tumors (n = 90) that were previously negative for clinical RT-PCR-based fusion testing. We identified EGFR ITD in three analyzed cases, all in patients less than 1 year of age (n = 18; 3/18, 17%). Here we expand the spectrum of tumors with EGFR ITD to congenital soft tissue tumors and report an unusual example of an EGFR ITD in a tumor with cellular congenital mesoblastic nephroma histology. We also highlight the importance of appropriate test selection and bioinformatic analysis for identification of this genomic alteration that is unexpectedly common in congenital and infantile spindle cell tumors.


Assuntos
Neoplasias Renais , Nefroma Mesoblástico , Sarcoma , Neoplasias de Tecidos Moles , Recém-Nascido , Criança , Humanos , Estudos Retrospectivos , Nefroma Mesoblástico/genética , Nefroma Mesoblástico/congênito , Nefroma Mesoblástico/patologia , Neoplasias de Tecidos Moles/genética , Neoplasias Renais/genética , Neoplasias Renais/patologia , Sarcoma/genética , Sarcoma/patologia , Receptores ErbB/genética
6.
Surg Oncol Clin N Am ; 32(1): 169-184, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36410916

RESUMO

Soft-tissue sarcoma (STS) is not a single entity but, rather, a family of diseases with differing biologic behaviors and anatomic site- and histotype-specific responses to treatment. Whereas surgery remains the mainstay of treatment of primary, localized disease, evolving evidence is establishing the role of multimodality treatment of these tumors. This article summarizes prospective evidence to date informing our treatment of STS. Key future directions will include advancing our understanding of fundamental tumor biology and mechanisms of response and recurrence, as well as defining the optimal provision of regional, systemic, and targeted therapies, including the role of immunotherapy. Ongoing global collaborations will be integral to progress in treating these rare tumors.


Assuntos
Tumores do Estroma Gastrointestinal , Sarcoma , Neoplasias de Tecidos Moles , Humanos , Tumores do Estroma Gastrointestinal/cirurgia , Estudos Prospectivos , Neoplasias de Tecidos Moles/terapia , Neoplasias de Tecidos Moles/patologia , Sarcoma/terapia , Sarcoma/patologia , Imunoterapia
7.
Medicine (Baltimore) ; 101(47): e31752, 2022 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-36451511

RESUMO

RATIONALE: Extraosseous Ewing's sarcoma is a rare tumor which is aggressive with poor prognosis; it can occur anywhere in the body, but scantily in the pancreas. Pancreatic Ewing's sarcoma is not reported commonly, with inconsistent clinical manifestations. In this regard, early recognition of this disease is very important for the patient's sake. PATIENT CONCERNS: A 16-year-old boy presented with left lower quadrant abdominal pain for 2 months, and left flank pain with dysuria for 1 month. DIAGNOSIS: Abdominal and renal ultrasonography found a mass between the spleen and left kidney as well as left renal pelvic dilatation. Abdominal computed tomography found a heterogenous mass derived from the tail of the pancreas. Serial examinations revealed that the mass was a pancreatic Ewing's sarcoma. Furthermore, no metastasis was documented. INTERVENTIONS: The tumor was totally excised after 6 months of chemotherapy, which included 10 courses of neoadjuvant chemotherapy with vincristine, epirubicin, and cyclophosphamide, alternating with ifosfamide and etoposide. The patient completed consolidation chemotherapy with vincristine, epirubicin, and cyclophosphamide, alternating with ifosfamide and etoposide for 5 courses. Radiotherapy was applied to the tumor-involved region and tumor bed. OUTCOMES: To date, the malignancy has not recurred since the treatment was completed 4 years ago. There are no complications from the treatment for the patient. LESSONS: The pancreas is a very rare extraosseous location for Ewing's sarcoma. Pancreatic extraosseous Ewing's sarcoma should be regarded as a differential diagnosis of non-urinary originated left flank pain with dysuria in adolescents.


Assuntos
Neoplasias Pancreáticas , Sarcoma de Ewing , Sarcoma , Neoplasias de Tecidos Moles , Adolescente , Masculino , Humanos , Sarcoma de Ewing/diagnóstico por imagem , Sarcoma de Ewing/terapia , Ifosfamida , Etoposídeo , Dor no Flanco , Vincristina , Epirubicina , Disuria , Pâncreas/diagnóstico por imagem , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/terapia , Ciclofosfamida
8.
Rev. esp. med. nucl. imagen mol. (Ed. impr.) ; 41(6): 395-407, nov. - dic. 2022. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-ADZ-921

RESUMO

Un diagnóstico de cáncer es perturbador a cualquier edad, pero especialmente cuando el paciente es un niño. Solo se puede diagnosticar lo que se sospecha, solo se sospecha lo que se conoce o, al menos, se conoce su existencia, pero los tumores musculoesqueléticos son infrecuentes y, por tanto, muy difíciles de diagnosticar o tratar. Probablemente por su infrecuencia, por la complejidad de las imágenes radiológicas, por la apariencia histopatológica, así como por las serias consecuencias debido a biopsias y tratamientos inadecuados, la patología tumoral musculoesquelética necesita un manejo clínico que debe ser llevado a cabo por un grupo de especialistas con formación específica, que permita un adecuado diagnóstico, la introducción de terapias adyuvantes, así como un tratamiento quirúrgico, haciéndose hoy imprescindible un tratamiento multidisciplinar. Los estudios de imagen proporcionan información esencial sobre la naturaleza de cada lesión, su tamaño, su localización anatómica, el efecto sobre el hueso o los tejidos blandos circundantes y la afectación de las articulaciones adyacentes y las estructuras neurovasculares. En este artículo los autores analizan los avances de las técnicas de medicina nuclear (gammagrafías, PET/TC y SPECT/TC) y su utilidad en la estadificación de tumores musculoesqueléticos malignos pediátricos, así como en la valoración de la respuesta, el seguimiento y el diagnóstico de recidiva (AU)


A diagnosis of cancer is frightening at any age, but especially when the patient is a child. Only what is suspected can be diagnosed, only what is known or at least known to exist is suspected, but musculoskeletal tumors are infrequent and therefore very difficult to diagnose or treat. Probably due to their infrequency, the complexity of the radiological images, histopathological appearance, as well as the serious consequences due to inadequate biopsies and treatments, musculoskeletal tumor pathology requires clinical management that must be carried out by a group of specialists with specific training, allowing an adequate diagnosis, introduction of adjuvant therapies, as well as surgical treatment, making multidisciplinary treatment essential today. Imaging studies provide essential information on the nature of each lesion, its size, its anatomical location, the effect on the surrounding bone or soft tissues and the involvement of adjacent joints and neurovascular structures. In this article the authors will discuss the advances in nuclear medicine techniques (scintigraphy, SPECT/CT and PET/CT) and their usefulness in the staging of pediatric malignant musculoskeletal tumors, as well as in the assessment of response, follow-up, and diagnosis of recurrence (AU)


Assuntos
Humanos , Criança , Medicina Nuclear/métodos , Neoplasias de Tecidos Moles/diagnóstico por imagem , Neoplasias Ósseas/diagnóstico por imagem , Recidiva Local de Neoplasia/diagnóstico por imagem , Estadiamento de Neoplasias , Seguimentos , Cintilografia
9.
Chirurgia (Bucur) ; 117(5): 601-607, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36318691

RESUMO

Background: Dermatofibrosarcoma protuberans (DFSP) is a rare soft tissue tumor that is classified as a non-melanoma skin cancer. Surgical excision with wide safety margins is the cornerstone treatment and frequently requires advanced reconstruction methods for wound closure. This study aimed to report our experience with the management of seven consecutive patients with dermatofibrosarcoma protuberans. Materials and Methods: We performed a retrospective study of seven consecutive patients with dermatofibrosarcoma protuberans admitted to our Plastic and Reconstructive Surgery Department of Clinical Emergency Hospital "Prof. Dr. Agrippa Ionescu" Bucharest, Romania, between July 12, 2018, and July 4, 2022. Results: The mean age of the patients was 38.2 years. In 4 patients, the primary treatment consisted of wide local excision, while 3 presented to our clinic for re-resection. All cases required complex reconstruction methods 3 patients with a split-thickness skin graft (STSG), 3 patients with local flaps, and in one patient, because of the superior size of the post-excisional defect, we used local advancement flaps and STSG. In two cases, the histopathological diagnosis revealed fibrosarcomatous differentiation (the largest primary tumor dimension), one of which showed fascial invasion, and both of them received adjuvant radiotherapy. Conclusion: A soft tissue tumor with a clinical appearance suggestive of DFSP, especially in cases of increased tumor sizes, incisional biopsy and subsequent multidisciplinary approach will lead to a wide surgical excision with negative histopathological margins, as a standard treatment, for a lowgrade sarcoma, which rarely metastasizes.


Assuntos
Dermatofibrossarcoma , Neoplasias Cutâneas , Neoplasias de Tecidos Moles , Humanos , Adulto , Dermatofibrossarcoma/patologia , Estudos Retrospectivos , Neoplasias Cutâneas/patologia , Resultado do Tratamento , Margens de Excisão
10.
Sci Rep ; 12(1): 19612, 2022 Nov 16.
Artigo em Inglês | MEDLINE | ID: mdl-36385486

RESUMO

Uterine sarcomas have very poor prognoses and are sometimes difficult to distinguish from uterine leiomyomas on preoperative examinations. Herein, we investigated whether deep neural network (DNN) models can improve the accuracy of preoperative MRI-based diagnosis in patients with uterine sarcomas. Fifteen sequences of MRI for patients (uterine sarcoma group: n = 63; uterine leiomyoma: n = 200) were used to train the models. Six radiologists (three specialists, three practitioners) interpreted the same images for validation. The most important individual sequences for diagnosis were axial T2-weighted imaging (T2WI), sagittal T2WI, and diffusion-weighted imaging. These sequences also represented the most accurate combination (accuracy: 91.3%), achieving diagnostic ability comparable to that of specialists (accuracy: 88.3%) and superior to that of practitioners (accuracy: 80.1%). Moreover, radiologists' diagnostic accuracy improved when provided with DNN results (specialists: 89.6%; practitioners: 92.3%). Our DNN models are valuable to improve diagnostic accuracy, especially in filling the gap of clinical skills between interpreters. This method can be a universal model for the use of deep learning in the diagnostic imaging of rare tumors.


Assuntos
Aprendizado Profundo , Leiomioma , Neoplasias Pélvicas , Sarcoma , Neoplasias de Tecidos Moles , Neoplasias Uterinas , Feminino , Humanos , Diagnóstico Diferencial , Sensibilidade e Especificidade , Neoplasias Uterinas/diagnóstico por imagem , Neoplasias Uterinas/patologia , Leiomioma/patologia , Sarcoma/diagnóstico por imagem , Sarcoma/patologia , Neoplasias de Tecidos Moles/diagnóstico
11.
Medicine (Baltimore) ; 101(44): e31360, 2022 Nov 04.
Artigo em Inglês | MEDLINE | ID: mdl-36343027

RESUMO

RATIONALE: Myxoid pleomorphic liposarcoma (MPL) is a rare aggressive adipocytic tumor that mainly presents in children and adolescents. It is most frequently observed in the mediastinum and rarely in the head and neck, perineal region, or back. Herein, we report the first published case of MPL of the teres minor muscle. PATIENT CONCERNS: A 24-years-old woman presented with a painless palpable mass in her right shoulder. DIAGNOSES: Magnetic resonance imaging identified a 9.0 × 7.0 × 4.0 cm mass suspected to be a sarcoma in the teres minor muscle. Positron emission tomography/computed tomography revealed no evidence of distant metastasis. Histopathological examination revealed the mass to be an MPL, which was assigned a histologic grade of 3 according to the French Federation of Cancer Centers Sarcoma Group system. No tumor cells were observed along the resected margins. INTERVENTIONS: Under general anesthesia, the right teres minor muscle containing the mass was excised en bloc and frozen biopsy confirmed that the tumor cells did not invade the surrounding tissues. OUTCOMES: The patient underwent radiotherapy and was followed up for 6 months without complications. LESSONS: Although MPL in the teres minor muscle is rare, it should be considered in the differential diagnosis in patients with a mass in the teres minor muscle due to its poor prognosis.


Assuntos
Lipossarcoma Mixoide , Lipossarcoma , Sarcoma , Neoplasias de Tecidos Moles , Humanos , Feminino , Criança , Adolescente , Adulto Jovem , Adulto , Manguito Rotador/patologia , Lipossarcoma/patologia , Neoplasias de Tecidos Moles/patologia , Sarcoma/diagnóstico , Diagnóstico Diferencial , Lipossarcoma Mixoide/diagnóstico , Lipossarcoma Mixoide/cirurgia , Lipossarcoma Mixoide/patologia
12.
Medicine (Baltimore) ; 101(44): e31631, 2022 Nov 04.
Artigo em Inglês | MEDLINE | ID: mdl-36343072

RESUMO

RATIONALE: Clear cell sarcoma of soft tissue (CCSST) is a rare malignant tumor that occurs in the extremities of young adults. CCSST has been documented to have atypical histopathological features, such as epidermotropism or myxoid differentiation, which may set pitfalls in the differential diagnosis. We report a case of CCSST with plasmacytoid morphology which has never been described. PATIENT CONCERNS: A 15-year-old male, presented with a 5-cm mass in his left inguinal area. DIAGNOSIS: Positron emission tomography-computed tomography examination showed nodules in the left groin and the lung, the latter was considered metastasis. A core needle biopsy with the diagnosis of CCSST with plasmacytoid morphology was made according to histology, immunostaining, and molecular analysis. INTERVENTIONS: The patient received chemotherapy of doxorubicin and ifosfamide. OUTCOMES: The patient failed to respond to the standard chemotherapy and deceased twelve months after diagnosis. LESSONS: This special case of CCSST with plasmacytoid features demonstrated a morphological variation never been documented and may easily lead to misdiagnosis. For such cases, molecular analysis is essential to provide solid evidence for accurate diagnosis.


Assuntos
Sarcoma de Células Claras , Neoplasias de Tecidos Moles , Masculino , Adulto Jovem , Humanos , Adolescente , Sarcoma de Células Claras/diagnóstico , Sarcoma de Células Claras/tratamento farmacológico , Sarcoma de Células Claras/patologia , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/tratamento farmacológico , Neoplasias de Tecidos Moles/patologia , Ifosfamida/uso terapêutico , Doxorrubicina/uso terapêutico , Extremidades/patologia
13.
BMJ Case Rep ; 15(11)2022 Nov 04.
Artigo em Inglês | MEDLINE | ID: mdl-36332932

RESUMO

Spindle cell carcinoma is a subtype of sarcomatoid carcinoma, which has previously been described in various anatomical locations, though rarely in the trachea.We present the case of a woman in her 70s who presented with a sore throat and stridor. Fibreoptic nasendoscopy demonstrated a tracheal mass occupying 80% of the airway from the cricoid cartilage to the third tracheal ring, infiltrating the thyroid gland. Subsequent CT demonstrated pulmonary emboli and vertebral metastasis. Biopsy of the infiltrated thyroid confirmed the diagnosis of spindle cell carcinoma. The length of the tumour and metastasis at presentation made this surgically unresectable, and she was referred for a palliative stent but died after an acute deterioration.This pathology has been reported only five times previously in the literature, with management strategies varying greatly between patients. Primary tracheal tumours are difficult to manage as, due to their rarity, there are no clear guidelines.


Assuntos
Carcinoma , Sarcoma , Neoplasias de Tecidos Moles , Neoplasias da Glândula Tireoide , Neoplasias da Traqueia , Feminino , Humanos , Traqueia/diagnóstico por imagem , Traqueia/patologia , Neoplasias da Traqueia/diagnóstico por imagem , Neoplasias da Traqueia/cirurgia , Sarcoma/diagnóstico por imagem , Sarcoma/cirurgia , Carcinoma/patologia , Neoplasias de Tecidos Moles/patologia , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/cirurgia , Neoplasias da Glândula Tireoide/patologia
14.
BMJ Case Rep ; 15(11)2022 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-36357102

RESUMO

Solitary fibrous tumours (SFTs) are a rare soft tissue sarcoma. We present a case of a male patient with an SFT of the right posterior fossa, with a late metastasis to the right lung and chest wall identified 18 years later.A small number of late metastases of SFTs have previously been reported. Metastases are typically managed surgically, although there is limited evidence suggesting that radiotherapy may be effective for primary SFTs.In this case, the patient declined treatment for his metastasised cancer for 5 years. He then only agreed to radiation treatment without surgery, which uniquely resulted in excellent symptom relief and durable local control. This case illustrates the importance of further research on the role of radiation in managing SFTs, the value of long-term follow-up and the necessity of exploring barriers to care.This case also highlights issues regarding barriers to care related to late diagnoses of recurrence in rare tumours. In this case, at the time of recurrence the original tissue blocks were not available for review. The patient had moved to a different province where his former records were not easily accessible, and the original tissue blocks had been discarded. In that jurisdiction, laboratories must keep cytology slides for 5 years, histopathology slides for 10 years and paraffin blocks for 2 years. This contributed to a misdiagnosis of the recurrence as an Ewing sarcoma, resulting in the patient initially declining treatment at the time of disease recurrence, and leading to a long-standing mistrust of his physicians which impacted his decision-making.


Assuntos
Febre Grave com Síndrome de Trombocitopenia , Neoplasias de Tecidos Moles , Tumores Fibrosos Solitários , Masculino , Humanos , Recidiva Local de Neoplasia/radioterapia , Tumores Fibrosos Solitários/diagnóstico , Neoplasias de Tecidos Moles/patologia
15.
J Am Coll Radiol ; 19(11S): S374-S389, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36436964

RESUMO

Malignant or aggressive primary musculoskeletal tumors are rare and encompass a wide variety of bone and soft tissue tumors. Given the most common site for metastasis from these primary musculoskeletal tumors is to the lung, chest imaging is integral in both staging and surveillance. Extrapulmonary metastases are rarely encountered with only a few exceptions. Following primary tumor resection, surveillance of the primary tumor site is generally recommended. Local surveillance imaging recommendations differ between primary tumors of bone origin versus soft tissue origin. This document consolidates the current evidence and expert opinion for the imaging staging and surveillance of these tumors into five clinical scenarios. The ACR Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer-reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances in which peer-reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.


Assuntos
Doenças Musculoesqueléticas , Neoplasias de Tecidos Moles , Humanos , Sociedades Médicas , Medicina Baseada em Evidências , Estadiamento de Neoplasias
16.
Georgian Med News ; (330): 40-42, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36427839

RESUMO

Intramuscular myxoma (IM) is a benign, soft tissue neoplasm of mesenchymal origin. IM is rare, with an incidence of between 0.1 and 0.13 in every 100,000 individuals. Onset is usually between the fourth and seventh decades of life, predominantly in women (70%). The thigh is the common site of involvement seen in 51% patients, followed by upper arm (9%), calf (7%), and rarely in buttocks. We present the case of a 63-year-old female patient with a 6-month history of a growing IM of the right buttock. Due to rapid tumor growth resection of the tumor was indicated to obtain histopathological examination and to rule out malignancy. Marginal surgical removal was performed. Histopathological examination brought the diagnosis of a big intramuscular myxoma. There is no recurrence at latest follow-up.


Assuntos
Mixoma , Neoplasias de Tecidos Moles , Humanos , Feminino , Pessoa de Meia-Idade , Nádegas/cirurgia , Mixoma/diagnóstico por imagem , Mixoma/cirurgia , Neoplasias de Tecidos Moles/diagnóstico por imagem , Neoplasias de Tecidos Moles/cirurgia
17.
Int J Mol Sci ; 23(22)2022 Nov 17.
Artigo em Inglês | MEDLINE | ID: mdl-36430703

RESUMO

Sarcomas are rare malignant mesenchymal neoplasms, and the knowledge of tumor biology and genomics is scarce. Chemotherapy is the standard of care in advanced disease, with poor outcomes. Identifying actionable genomic alterations may offer effective salvage therapeutic options when previous lines have failed. Here, we report a retrospective cohort study of sarcoma patients followed at our center and submitted to comprehensive genomic profiling between January 2020 and June 2021. Thirty patients were included, most (96.7%) with reportable genomic alterations. The most common alterations were linked to cell cycle regulation (TP53, CDKN2A/B, and RB1 deletions and CDK4, MDM2, and MYC amplifications). Most patients (96.7%) had microsatellite stability and low tumor mutational burden (≤10 muts/megabase (Mb); median 2 Muts/Mb). Two-thirds of patients had actionable mutations for targeted treatments, including five cases with alterations amenable to targeted therapies with clinical benefit within the patient's tumor type, ten cases with targetable alterations with clinical benefit in other tumor types, and five cases with alterations amenable to targeting with drugs under investigation in a clinical trial setting. A significant proportion of cases in this study had actionable genomic alterations with available targeted drugs. Next-generation sequencing is a feasible option for identifying molecular drivers that can provide therapeutic options for individual patients. Molecular Tumor Boards should be implemented in the clinical practice to discuss genomic findings and inform clinically relevant targeted therapies.


Assuntos
Sarcoma , Neoplasias de Tecidos Moles , Humanos , Estudos Retrospectivos , Sarcoma/tratamento farmacológico , Sarcoma/genética , Perfil Genético , Genômica
18.
Int J Mol Sci ; 23(22)2022 Nov 18.
Artigo em Inglês | MEDLINE | ID: mdl-36430780

RESUMO

Trabectedin is used for the treatment of advanced soft tissue sarcomas (STSs). In this study, we evaluated if trabectedin could enhance the efficacy of irradiation (IR) by increasing the intrinsic cell radiosensitivity and modulating tumor micro-environment in fibrosarcoma (HS 93.T), leiomyosarcoma (HS5.T), liposarcoma (SW872), and rhabdomyosarcoma (RD) cell lines. A significant reduction in cell surviving fraction (SF) following trabectedin + IR compared to IR alone was observed in liposarcoma and leiomyosarcoma (enhancement ratio at 50%, ER50: 1.45 and 2.35, respectively), whereas an additive effect was shown in rhabdomyosarcoma and fibrosarcoma. Invasive cells' fraction significantly decreased following trabectedin ± IR compared to IR alone. Differences in cell cycle distribution were observed in leiomyosarcoma and rhabdomyosarcoma treated with trabectedin + IR. In all STS lines, trabectedin + IR resulted in a significantly higher number of γ-H2AX (histone H2AX) foci 30 min compared to the control, trabectedin, or IR alone. Expression of ATM, RAD50, Ang-2, VEGF, and PD-L1 was not significantly altered following trabectedin + IR. In conclusion, trabectedin radiosensitizes STS cells by affecting SF (particularly in leiomyosarcoma and liposarcoma), invasiveness, cell cycle distribution, and γ-H2AX foci formation. Conversely, no synergistic effect was observed on DNA damage repair, neoangiogenesis, and immune system.


Assuntos
Fibrossarcoma , Leiomiossarcoma , Lipossarcoma , Radiossensibilizantes , Rabdomiossarcoma , Sarcoma , Neoplasias de Tecidos Moles , Humanos , Trabectedina/farmacologia , Trabectedina/uso terapêutico , Radiossensibilizantes/farmacologia , Radiossensibilizantes/uso terapêutico , Leiomiossarcoma/tratamento farmacológico , Antineoplásicos Alquilantes/farmacologia , Antineoplásicos Alquilantes/uso terapêutico , Sarcoma/tratamento farmacológico , Sarcoma/patologia , Lipossarcoma/tratamento farmacológico , Microambiente Tumoral
19.
Biomolecules ; 12(11)2022 11 12.
Artigo em Inglês | MEDLINE | ID: mdl-36421692

RESUMO

The Serum Response Factor (SRF) is a transcription factor that regulates the expression of a wide set of genes involved in cell proliferation, migration, cytoskeletal organization and myogenesis. Accumulating evidence suggests that SRF may play a role in carcinogenesis and tumor progression in various neoplasms, where it is often involved in different fusion events. Here we investigated SRF rearrangements in soft tissue tumors, along with a gene expression profile analysis to gain insight into the oncogenic mechanism driven by SRF fusion. Whole transcriptome analysis of cell lines transiently overexpressing the SRF::E2F1 chimeric transcript uncovered the specific gene expression profile driven by the aberrant gene fusion, including overexpression of SRF-dependent target genes and of signatures related to myogenic commitment, inflammation and immune activation. This result was confirmed by the analysis of two cases of myoepitheliomas harboring SRF::E2F1 fusion with respect to EWSR1-fusion positive tumors. The recognition of the specific gene signature driven by SRF rearrangement in soft tissue tumors could aid the molecular classification of this rare tumor entity and support therapeutic decisions.


Assuntos
Fator de Resposta Sérica , Neoplasias de Tecidos Moles , Humanos , Fator de Resposta Sérica/genética , Fator de Resposta Sérica/metabolismo , Neoplasias de Tecidos Moles/genética , Diferenciação Celular/genética , Fatores de Transcrição/genética , Músculos/metabolismo
20.
Pan Afr Med J ; 42: 292, 2022.
Artigo em Francês | MEDLINE | ID: mdl-36415335

RESUMO

Lipoma is a benign soft tissue tumour. It is a benign proliferation of mature adipocytes. It is described as giant when its weight exceeds 1 kg or its diameter exceeds 5 cm. Functional and aesthetic impairment may be a major reason for surgical excision. It can be located everywhere, but it mainly occurs in the posterior segment of the chest. We here report a case of giant lipoma of the left posterior-superior segment of the chest.


Assuntos
Lipoma , Neoplasias de Tecidos Moles , Humanos , Hipestesia , Lipoma/diagnóstico , Lipoma/cirurgia , Lipoma/patologia
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