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Background: Advanced MRI-based neuroimaging techniques, such as perfusion and spectroscopy, have been increasingly incorporated into routine follow-up protocols in patients treated for high-grade glioma (HGG), to help differentiate tumor progression from treatment effect. However, these techniques' influence on clinical management remains poorly understood. Objective: To evaluate the impact of MRI-based advanced neuroimaging on clinical decision-making in patients with HGG in the posttreatment setting. Methods: This prospective study, performed at a comprehensive cancer center from March 1, 2017, to October 31, 2020, included adult patients treated by chemoradiation for WHO grade 4 diffuse glioma who underwent MRIbased advanced neuroimaging (comprising multiple perfusion imaging sequences and spectroscopy) to further evaluate findings on conventional MRI equivocal for tumor progression versus treatment effect. The ordering neuro-oncologists completed surveys before and after each advanced neuroimaging session. The percent of care episodes with a change between the intended and actual management plan on the surveys conducted before and after advanced neuroimaging, respectively, was computed and compared with a previously published percent using the Wald test for independent samples proportions. Results: The study included 63 patients (mean age, 55±13 years; 36 women, 27 men) who underwent 70 advanced neuroimaging sessions. Ordering neuro-oncologists' intended and actual management plans on the surveys completed before and after advanced neuroimaging, respectively, differed in 44% (31/70, [95% CI: 33-56%]) of episodes, which differed from the previously published frequency of 8.5% (5/59) (p<.001). These management plan changes included selection of a different plan for 6/8 episodes with an intended plan to enroll patients in a clinical trial, 12/19 episodes with an intended plan to change chemotherapeutic agents, 4/8 episodes with an intended plan of surgical intervention, and 1/2 episodes with an intended plan of re-irradiation. The ordering neuro-oncologists found advanced neuroimaging to be helpful in 93% (95% CI: 87%-99%) (65/70) of episodes. Conclusion: Neuro-oncologists' management plans changed in a substantial fraction of adult patients with HGG who underwent advanced neuroimaging to further evaluate conventional MRI findings equivocal for tumor progression versus treatment effect. Clinical Impact: The findings support incorporation of advanced neuroimaging into HGG posttreatment monitoring protocols.
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BACKGROUND AND PURPOSE: Brain tumors are the most common cause of cancer-related deaths among the pediatric population. Among these, pediatric glioblastomas (GBMs) comprise 2.9% of all central nervous system tumors and have a poor prognosis. The purpose of this study is to determine whether the imaging findings can be a prognostic factor for survival in children with GBMs. MATERIALS AND METHODS: The imaging studies and clinical data from 64 pediatric patients with pathology-proven GBMs were evaluated. Contrast enhancement patterns were classified into focal, ring-like, and diffuse, based on preoperative postcontrast T1-weighted magnetic resonance images. We used the Kaplan-Meier method and Cox proportional hazard regression to evaluate the prognostic value of imaging findings. RESULTS: Patients with ring-enhanced GBMs who underwent gross total resection or subtotal resection were found to have a significantly shorter progression-free survival ( P = 0.03) comparing with other enhancing and nonenhancing glioblastomas. CONCLUSIONS: In this study, we analyzed survival factors in children with pediatric glioblastomas. In the group of patients who underwent gross total resection or subtotal resection, those patients with focal-enhanced GBMs had significantly longer progression-free survival ( P = 0.03) than did those with other types of enhancing GBMs (diffuse and ring-like).
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Neoplasias Encefálicas , Glioblastoma , Humanos , Criança , Glioblastoma/diagnóstico por imagem , Glioblastoma/patologia , Imageamento por Ressonância Magnética/métodos , Neoplasias Encefálicas/patologia , Prognóstico , Estudos RetrospectivosRESUMO
Background Brain metastases are manually identified during stereotactic radiosurgery (SRS) treatment planning, which is time consuming and potentially challenging. Purpose To develop and investigate deep learning (DL) methods for detecting brain metastasis with MRI to aid in treatment planning for SRS. Materials and Methods In this retrospective study, contrast material-enhanced three-dimensional T1-weighted gradient-echo MRI scans from patients who underwent gamma knife SRS from January 2011 to August 2018 were analyzed. Brain metastases were manually identified and contoured by neuroradiologists and treating radiation oncologists. DL single-shot detector (SSD) algorithms were constructed and trained to map axial MRI slices to a set of bounding box predictions encompassing metastases and associated detection confidences. Performances of different DL SSDs were compared for per-lesion metastasis-based detection sensitivity and positive predictive value (PPV) at a 50% confidence threshold. For the highest-performing model, detection performance was analyzed by using free-response receiver operating characteristic analysis. Results Two hundred sixty-six patients (mean age, 60 years ± 14 [standard deviation]; 148 women) were randomly split into 80% training and 20% testing groups (212 and 54 patients, respectively). For the testing group, sensitivity of the highest-performing (baseline) SSD was 81% (95% confidence interval [CI]: 80%, 82%; 190 of 234) and PPV was 36% (95% CI: 35%, 37%; 190 of 530). For metastases measuring at least 6 mm, sensitivity was 98% (95% CI: 97%, 99%; 130 of 132) and PPV was 36% (95% CI: 35%, 37%; 130 of 366). Other models (SSD with a ResNet50 backbone, SSD with focal loss, and RetinaNet) yielded lower sensitivities of 73% (95% CI: 72%, 74%; 171 of 234), 77% (95% CI: 76%, 78%; 180 of 234), and 79% (95% CI: 77%, 81%; 184 of 234), respectively, and lower PPVs of 29% (95% CI: 28%, 30%; 171 of 581), 26% (95% CI: 26%, 26%; 180 of 681), and 13% (95% CI: 12%, 14%; 184 of 1412). Conclusion Deep-learning single-shot detector models detected nearly all brain metastases that were 6 mm or larger with limited false-positive findings using postcontrast T1-weighted MRI. © RSNA, 2020 See also the editorial by Kikinis and Wells in this issue.
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Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/radioterapia , Neoplasias Encefálicas/secundário , Aprendizado Profundo , Diagnóstico por Computador/métodos , Imageamento por Ressonância Magnética/métodos , Radiocirurgia/métodos , Meios de Contraste , Feminino , Humanos , Imageamento Tridimensional , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
Background: The dabrafenib plus trametinib combination (DT) has revolutionized the treatment of BRAFV600E-mutated anaplastic thyroid carcinoma (BRAFm-ATC). However, patients eventually develop resistance and progress. Single-agent anti-PD-1 inhibitor spartalizumab has shown a median overall survival (mOS) of 5.9 months. Combination of immunotherapy with BRAF/MEK inhibitors (BRAF/MEKi) seems to improve outcomes compared with BRAF/MEKi alone, although no direct comparison is available. BRAF-targeted therapy before surgery (neoadjuvant approach) has also shown improvement in survival. We studied the efficacy and safety of DT plus pembrolizumab (DTP) compared with current standard-of-care DT alone as an initial treatment, as well as in the neoadjuvant setting. Methods: Retrospective single-center study of patients with BRAFm-ATC treated with first-line BRAF-directed therapy between January 2014 and March 2023. Three groups were evaluated: DT, DTP (pembrolizumab added upfront or at progression), and neoadjuvant (DT before surgery, and pembrolizumab added before or after surgery). The primary endpoint was mOS between DT and DTP. Secondary endpoints included median progression-free survival (mPFS) and response rate with DT versus DTP as initial treatments, and the exploratory endpoint was mOS in the neoadjuvant group. Results: Seventy-one patients were included in the primary analysis: n = 23 in DT and n = 48 in DTP. Baseline demographics were similar between groups, including the presence of metastatic disease at start of treatment (p = 0.427) and prior treatments with surgery (p = 0.864) and radiation (p = 0.678). mOS was significantly longer with DTP (17.0 months [confidence interval CI, 11.9-22.1]) compared with DT alone (9.0 months [CI, 4.5-13.5]), p = 0.037. mPFS was also significantly improved with DTP as the initial treatment (11.0 months [CI, 7.0-15.0]) compared with DT alone (4.0 months [CI, 0.7-7.3]), p = 0.049. Twenty-three patients were in the exploratory neoadjuvant group, where mOS was the longest (63.0 months [CI, 15.5-110.5]). No grade 5 adverse events (AEs) occurred in all three cohorts, and 32.4% had immune-related AEs, most frequently hepatitis and colitis. Conclusions: Our results show that in BRAFm-ATC, addition of pembrolizumab to dabrafenib/trametinib may significantly prolong survival. Surgical resection of the primary tumor after initial BRAF-targeted therapy in selected patients may provide further survival benefit. However, conclusions are limited by the retrospective nature of the study. Additional prospective data are needed to confirm this observation.
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Imidazóis , Piridonas , Pirimidinonas , Carcinoma Anaplásico da Tireoide , Neoplasias da Glândula Tireoide , Humanos , Carcinoma Anaplásico da Tireoide/tratamento farmacológico , Carcinoma Anaplásico da Tireoide/genética , Estudos Retrospectivos , Proteínas Proto-Oncogênicas B-raf/genética , Estudos Prospectivos , Protocolos de Quimioterapia Combinada Antineoplásica , Oximas , Inibidores de Proteínas Quinases/uso terapêutico , Neoplasias da Glândula Tireoide/tratamento farmacológico , Neoplasias da Glândula Tireoide/genética , MutaçãoRESUMO
The objective of this study was to report outcomes for 19 consecutive patients with SMARCB1 (INI-1)-deficient sinonasal carcinoma. Patients were treated from 2014 to 2021 and followed for a median of 22.3 months. The median overall survival (OS) and disease-free survival (DFS) were 31.8 and 9.9 months, respectively. Patients with nasal cavity or maxillary sinus tumors had 84% better disease-specific survival (DSS) (hazard ratio [HR], 0.136; 95% confidence interval [CI], 0.028-0.66; p = .005) and 71% better DFS (HR, 0.29; 95% CI, 0.097-0.84; p = .041) than patients with other sinonasal sites. Patients who received induction chemotherapy were 76% less likely to die of disease (DSS HR, 0.241; 95% CI, 0.058-1.00; p = .047). In the largest single-institution study of SMARCB1-deficient sinonasal carcinoma to date, OS and DFS approached 3 years and 1 year, respectively, but were better for nasal cavity and maxillary sinus tumors. Patients may benefit from induction chemotherapy.
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Carcinoma , Neoplasias do Seio Maxilar , Neoplasias dos Seios Paranasais , Humanos , Neoplasias do Seio Maxilar/genética , Neoplasias do Seio Maxilar/terapia , Neoplasias do Seio Maxilar/patologia , Neoplasias dos Seios Paranasais/genética , Neoplasias dos Seios Paranasais/terapia , Neoplasias dos Seios Paranasais/patologia , Carcinoma/genética , Carcinoma/terapia , Carcinoma/patologia , Proteína SMARCB1/genéticaRESUMO
Imaging of head and neck cancer at initial staging and as part of post-treatment surveillance is a key component of patient care as it guides treatment strategy and aids determination of prognosis. Head and neck cancer includes a heterogenous group of malignancies encompassing several anatomic sites and histologies, with squamous cell carcinoma the most common. Together this comprises the seventh most common cancer worldwide. At initial staging comprehensive imaging delineating the anatomic extent of the primary site, while also assessing the nodal involvement of the neck is necessary. The treatment of head and neck cancer often includes a combination of surgery, radiation, and chemotherapy. Post-treatment imaging is tailored for the evaluation of treatment response and early detection of local, locoregional, and distant recurrent tumor. Cross-sectional imaging with CT or MRI is recommended for the detailed anatomic delineation of the primary site. PET/CT provides complementary metabolic information and can map systemic involvement. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.
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Neoplasias de Cabeça e Pescoço , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Humanos , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Neoplasias de Cabeça e Pescoço/terapia , Imageamento por Ressonância Magnética , Recidiva Local de Neoplasia/diagnóstico por imagem , Recidiva Local de Neoplasia/terapia , Recidiva Local de Neoplasia/patologia , Prognóstico , Sociedades Médicas , Estados UnidosRESUMO
Tinnitus is abnormal perception of sound and has many subtypes. Clinical evaluation, audiometry, and otoscopy should be performed before ordering any imaging, as the choice of imaging will depend on various factors. Type of tinnitus (pulsatile or nonpulsatile) and otoscopy findings of a vascular retrotympanic lesion are key determinants to guide the choice of imaging studies. High-resolution CT temporal bone is an excellent tool to detect glomus tumors, abnormal course of vessels, and some other abnormalities when a vascular retrotympanic lesion is seen on otoscopy. CTA or a combination of MR and MRA/MRV are used to evaluate arterial or venous abnormalities like dural arteriovenous fistula, arteriovenous malformation, carotid stenosis, dural sinus stenosis, and bony abnormalities like sigmoid sinus wall abnormalities in cases of pulsatile tinnitus without a vascular retrotympanic lesion. MR of the brain is excellent in detecting mass lesions such as vestibular schwannomas in cases of unilateral nonpulsatile tinnitus. The American College of Radiology 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 where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.
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Zumbido , Doenças Vasculares , Malformações Vasculares , Humanos , Diagnóstico por Imagem/métodos , Sociedades Médicas , Zumbido/diagnóstico por imagem , Estados UnidosRESUMO
Background: Medulloblastoma in adults is rare and treatment decisions are largely driven from pediatric literature. We sought to characterize recurrent medulloblastoma in adults. Methods: From a single-institution dataset of 200 adult patients diagnosed with medulloblastoma during 1978-2017, those with recurrence were analyzed for clinical features, treatment, and outcome. Results: Of the 200 patients, 82 (41%) with median age of 29 years (18-59) had recurrence after a median follow-up time of 8.4 years (95% CI = 7.1, 10.3). Of these, 30 (37%) were standard-risk, 31 (38%) were high-risk, and 21 (26%) had unknown-risk diseases at the time of initial diagnosis. Forty-eight (58%) presented with recurrence outside the posterior fossa, of whom 35 (43%) had distant recurrence only. Median Progression-free survival (PFS) and OS from initial surgery were 33.5 and 62.4 months, respectively. Neither PFS nor OS from initial diagnosis differed between the standard-risk and high-risk groups in those who experience recurrence (P = .505 and .463, respectively). Median OS from first recurrence was 20.3 months, also with no difference between the standard-risk and high-risk groups (P = .518). Recurrences were treated with combinations of re-resection (20 patients; 25%), systemic chemotherapy (61 patients; 76%), radiation (29 patients; 36%), stem cell transplant (6 patients; 8%), and intrathecal chemotherapy (4 patients; 5%). Patients who received radiation at recurrence had better OS (32.9 months) than those who did not (19.2 months) (P = .034). Conclusions: Recurrent medulloblastoma in adults has a poor prognosis irrespective of initial risk stratification. Recurrence commonly arises outside the posterior fossa years after initial diagnosis.
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This article presents guidelines for initial imaging utilization in patients presenting with sinonasal disease, including acute rhinosinusitis without and with suspected orbital and intracranial complications, chronic rhinosinusitis, suspected invasive fungal sinusitis, suspected sinonasal mass, and suspected cerebrospinal fluid leak. CT and MRI are the primary imaging modalities used to evaluate patients with sinonasal disease. Given its detailed depiction of bony anatomy, CT can accurately demonstrate the presence of sinonasal disease, bony erosions, and anatomic variants, and is essential for surgical planning. Given its superior soft tissue contrast, MRI can accurately identify clinically suspected intracranial and intraorbital complications, delineate soft tissue extension of tumor and distinguish mass from obstructed secretions.The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.
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Sinusite , Sociedades Médicas , Humanos , Imageamento por Ressonância Magnética/métodos , Sinusite/diagnóstico por imagem , Estados UnidosRESUMO
Cranial neuropathy can result from pathology affecting the nerve fibers at any point and requires imaging of the entire course of the nerve from its nucleus to the end organ in order to identify a cause. MRI with and without intravenous contrast is often the modality of choice with CT playing a complementary role. 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.
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Doenças dos Nervos Cranianos , Humanos , Doenças dos Nervos Cranianos/diagnóstico por imagem , Revisão por Pares , Análise de SistemasRESUMO
Maxillofacial trauma patients comprise a significant subset of patients presenting to emergency departments. Before evaluating for facial trauma, an emergency or trauma physician must perform a primary survey to ensure patient stabilization. Following this primary survey, this document discusses the following clinical scenarios for facial trauma: tenderness to palpation or contusion or edema over frontal bone (suspected frontal bone injury); pain with upper jaw manipulation or pain overlying zygoma or zygomatic deformity or facial elongation or malocclusion or infraorbital nerve paresthesia (suspected midface injury); visible nasal deformity or palpable nasal deformity or tenderness to palpation of the nose or epistaxis (suspected nasal bone injury); and trismus or malocclusion or gingival hemorrhage or mucosal hemorrhage or loose teeth or fractured teeth or displaced teeth (suspected mandibular injury). The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.
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Má Oclusão , Sociedades Médicas , Diagnóstico por Imagem , Medicina Baseada em Evidências , Humanos , Dor , Estados UnidosRESUMO
BACKGROUND: Targeted kinase inhibitors have been increasingly utilized in the treatment of advanced medullary thyroid cancer (MTC) over the last decade. Recently, highly potent next generation selective RET inhibitors have been clinically validated, and selpercatinib was recently Food and Drug Administration (FDA)-approved for advanced MTC. The advent of highly selective, potent RET inhibitors is broadening the treatment options for patients with RET-mutated cancers. METHODS: We report the first published case of neoadjuvant selpercatinib followed by surgery for a patient with initially unresectable, widely metastatic, RET-mutated MTC who was treated on a single patient protocol. RESULTS: After greater than 50% RECIST response, the patient underwent complete surgical resection followed by selpercatinib resumption. He remains locoregionally disease-free 21 months after starting therapy with stable metastatic disease (after initial partial response); and calcitonin/CEA continue to decline. CONCLUSION: This novel treatment strategy for locoregionally advanced RET-mutated MTC warrants further study in clinical trials.
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Carcinoma Neuroendócrino , Neoplasias da Glândula Tireoide , Carcinoma Neuroendócrino/tratamento farmacológico , Carcinoma Neuroendócrino/genética , Carcinoma Neuroendócrino/cirurgia , Humanos , Masculino , Terapia Neoadjuvante , Proteínas Proto-Oncogênicas c-ret/genética , Pirazóis , Piridinas , Neoplasias da Glândula Tireoide/tratamento farmacológico , Neoplasias da Glândula Tireoide/genética , Neoplasias da Glândula Tireoide/cirurgiaRESUMO
Hyperparathyroidism is defined as excessive parathyroid hormone production. The diagnosis is made through biochemical testing, in which imaging has no role. However, imaging is appropriate for preoperative parathyroid gland localization with the intent of surgical cure. Imaging is particularly useful in the setting of primary hyperparathyroidism whereby accurate localization of a single parathyroid adenoma can facilitate minimally invasive parathyroidectomy. Imaging can also be useful to localize ectopic or supernumerary parathyroid glands and detail anatomy, which may impact surgery. This document summarizes the literature and provides imaging recommendations for hyperparathyroidism including primary hyperparathyroidism, recurrent or persistent primary hyperparathyroidism after parathyroid surgery, secondary hyperparathyroidism, and tertiary hyperparathyroidism. Recommendations include ultrasound, CT neck without and with contrast, and nuclear medicine parathyroid scans. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment.
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Neoplasias das Paratireoides , Medicina Baseada em Evidências , Humanos , Recidiva Local de Neoplasia , Neoplasias das Paratireoides/diagnóstico por imagem , Neoplasias das Paratireoides/cirurgia , Sociedades Médicas , Tomografia Computadorizada por Raios X , Estados UnidosRESUMO
BACKGROUND: Adult medulloblastoma (MB) is rare, and management guidelines are largely based on pediatric clinical trials and retrospective series. Limited data exist with respect to clinical characteristics, prognostic factors, and outcomes based on first-line treatments. METHODS: Two hundred adults with MB seen at a single institution from January 1978 to April 2017 were identified and followed for a median of 8.4 y (7.1, 10.3). RESULTS: Patient's median age at diagnosis was 29 y (18, 63). One hundred eleven (55.5%) were standard-risk, 59 (29.5%) were high-risk, and 30 (15.0%) were indeterminate. Most received post-operative radiation (RT) (184 [92.0%]), and 105 (52.5%) received first-line chemotherapy. Median overall survival (OS) was 8.8 y (7.2, 12.2) and median progression-free survival (PFS) was 6.6 y (4.9, 11.2). High-risk patients had inferior OS (Hazard ratio [HR] = 2.5 [1.5, 4.2], P = .0006) and PFS (HR = 2.3 [1.3, 3.9], P = .002) compared to standard-risk patients. Age, sex, and metastatic disease were not associated with survival. After adjusting for risk status, those who received RT plus adjuvant chemotherapy had superior PFS compared to RT plus neoadjuvant chemotherapy [HR = 0.46 (0.22, 0.95), P = .0357]. Within a subgroup for whom detailed clinical data were available, those who received RT plus adjuvant chemotherapy had improved PFS compared to RT only [HR = 0.24 (0.074-0.76), P = .016]. The substitution of cisplatin for carboplatin and the elimination of vincristine did not negatively affect outcomes. CONCLUSION: This is the largest single-institution retrospective study of adult MB to our knowledge and identifies standard-risk status, first-line RT and adjuvant chemotherapy as factors associated with improved outcomes.
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We report a case of a 77-year-old female with purulent chondritis of the thyroid cartilage who was initially referred for laryngeal neoplasm. Purulent chondritis of the laryngeal cartilage is a rare entity with three reports in the literature. The unique CT imaging features of expansile laryngeal cartilage with peripheral rim enhancement and central fluid-attenuation correlate to the abscess formation between the inner and outer perichondria. The correct imaging assessment prompts surgical management and avoid misdiagnosis.
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BACKGROUND: The cyclin-dependent-kinase inhibitor/retinoblastoma pathway has been implicated in sporadic medullary thyroid carcinoma tumorigenesis. Somatic CDKN2C loss has been associated with decreased overall survival in medullary thyroid carcinoma patients. We evaluated CDKN2C loss in a prospective clinical environment using a novel Clinical Laboratory Improvement Amendments-certified assay to confirm its association with aggressive disease and to interrogate response to targeted therapy. METHODS: Patients with advanced sporadic medullary thyroid carcinoma underwent tumor genotyping for the purpose of management of targeted therapy and prognostication. RESULTS: Of patients with informative CDKN2C assay results, 30 (51.8%) were haploinsufficient/1N and 28 (48.3%) were 2N. Forty patients (69.0%) had a somatic RET mutation, and 36.9% had alterations of both genes. Thirty patients (51.7%) were treated with systemic therapy. Presence of genetic alterations in CDKN2C or RET did not predict treatment response. Patients with 1N CDKN2C loss had significantly shorter time-to-distant-metastasis than patients with normal copy number (P = .03). CONCLUSION: This is the first evaluation in the clinical setting of CDKN2C haploinsufficiency in sporadic medullary thyroid carcinoma. Although a larger cohort and longer follow-up will be required, loss seems to be associated with more aggressive disease and may indicate patients that might receive benefit from treatment with a CDK inhibitor.
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Carcinoma Neuroendócrino/tratamento farmacológico , Inibidor de Quinase Dependente de Ciclina p18/genética , Quinases Ciclina-Dependentes/antagonistas & inibidores , Técnicas de Genotipagem/métodos , Inibidores de Proteínas Quinases/uso terapêutico , Neoplasias da Glândula Tireoide/tratamento farmacológico , Adulto , Idoso , Carcinoma Neuroendócrino/genética , Carcinoma Neuroendócrino/patologia , Feminino , Seguimentos , Técnicas de Genotipagem/instrumentação , Haploinsuficiência , Humanos , Masculino , Pessoa de Meia-Idade , Seleção de Pacientes , Prognóstico , Intervalo Livre de Progressão , Estudos Prospectivos , Inibidores de Proteínas Quinases/farmacologia , Estudos Retrospectivos , Medição de Risco/métodos , Neoplasias da Glândula Tireoide/genética , Neoplasias da Glândula Tireoide/patologia , Adulto JovemRESUMO
Distant metastatic disease from gliomas is extremely rare. We report the case of a 17-year-old female with an H3F3A G34R mutated infiltrative glioma who developed painful osseous metastases to her pelvis and spine within 3 months of clinical presentation. The presence of an H3F3A mutation in these patients may indicate further work-up to include intensive staging examination.
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BACKGROUND: Fluorine-18-labeled 1-amino-3-fluorocyclobutane-1-carboxylic acid (fluciclovine) is a synthetic amino acid radiopharmaceutical initially developed to improve noninvasive diagnosis of gliomas and currently FDA approved for prostate cancer imaging. Although fluciclovine positron emission tomography (PET) has proven to be efficacious in detecting multiple types of cancer, its ability to detect oropharyngeal squamous cell carcinoma (OPSCC) is largely unknown. METHODS: We describe a case of incidental OPSCC detection with fluciclovine PET in a 66-year old male patient during workup for recurrent prostate adenocarcinoma. RESULTS: Fluciclovine PET detected a left base of tongue (BOT) lesion, which was subsequently confirmed as invasive SCC on surgical pathology. CONCLUSION: Given these findings, we discuss potential future directions for research with fluciclovine to overcome some of the known limitations of 18 [F]fluorodeoxyglucose in oncological imaging.
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Ácidos Carboxílicos , Carcinoma de Células Escamosas/diagnóstico por imagem , Ciclobutanos , Neoplasias Orofaríngeas/diagnóstico por imagem , Tomografia por Emissão de Pósitrons , Compostos Radiofarmacêuticos , Idoso , Humanos , Achados Incidentais , MasculinoRESUMO
STUDY DESIGN: A case series of dual time-point F-fluoro-2-deoxy-D-glucose positron emission tomography/computed tomography (F-FDG PET/CT) for the diagnosis of spinal cord sarcoidosis. OBJECTIVE: The aim of this study was to illustrate three cases of spinal sarcoidosis with occult presentation and subsequent identification with the use of dual time-point F-FDG PET/CT. SUMMARY OF BACKGROUND DATA: Sarcoidosis of the spinal cord is very rare and when it occurs without systemic manifestations of disease can be a challenging diagnostic dilemma frequently resulting in the need for spinal cord biopsy in order to establish a diagnosis. METHODS: Case series presentation and report. RESULTS: This manuscript presents a case series experience of dual time-point F-FDG PET/CT for the diagnosis of spinal cord sarcoidosis. We review the cases of three patients who presented with myelopathy and underwent F-FDG DTPI as part of the evaluation for enhancing spinal cord lesions of unknown etiology for 2 years at a university-based cancer hospital. F-FDG DTPI was vital in making the diagnosis of sarcoidosis, and in two of the cases, the patients were able to avoid biopsy, thereby avoiding potential morbidity from an invasive procedure. CONCLUSION: F-FDG PET/CT imaging is a noninvasive imaging technique that can be crucial in the diagnosis of sarcoidosis of the spinal cord and help avoid unnecessary procedures. LEVEL OF EVIDENCE: 4.
Assuntos
Fluordesoxiglucose F18 , Compostos Radiofarmacêuticos , Sarcoidose/diagnóstico por imagem , Doenças da Coluna Vertebral/diagnóstico por imagem , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Sarcoidose/patologia , Doenças da Medula Espinal/diagnóstico por imagem , Doenças da Medula Espinal/patologia , Doenças da Coluna Vertebral/patologiaRESUMO
Background: When achieved, complete surgical resection improves outcomes in anaplastic thyroid carcinoma (ATC). However, most ATC patients present with advanced inoperable disease, often with impending airway obstruction, increased hemorrhage risk, and significant dysphagia. Novel treatment strategies are critically needed to improve disease control and decrease locoregional morbidity. The objective of this study was to determine the feasibility and effectiveness of a neoadjuvant regimen by using dabrafenib with trametinib followed by surgical resection in patients with initially unresectable BRAFV600E-mutated ATC. Methods: Case series of six consecutive patients with BRAFV600E-mutated ATC diagnosed between January 2017 and February 2018. Pathologic confirmation of ATC was obtained before treatment. BRAFV600E status was ascertained via immunohistochemistry or sequencing of circulating tumor DNA. All patients received dabrafenib and trametinib (DT) followed by surgical resection and adjuvant chemoradiation. Three patients also received pembrolizumab. Results: Complete surgical resection was achieved in all patients. Histopathologic analyses of resected specimens showed high pathologic response rates with significantly decreased ATC viability and residual papillary thyroid carcinoma components. Overall survival at six months and one year was 100% and 83%, respectively. Locoregional control rate was 100%. Two patients died of distant metastases without evidence of locoregional disease at 8 and 14 months from diagnosis. The remaining four patients had no evidence of disease at the last follow-up. Conclusions: We report the first series in the literature of BRAFV600E-mutated ATC patients with locoregionally advanced disease treated with DT followed by surgical resection. We demonstrated feasibility of complete resection, decreased need for tracheostomy, high pathologic response rates, and durable locoregional control with symptom amelioration.