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BACKGROUND: While the likelihood of identifying constitutional breast cancer-associated BRCA1, BRCA2 and TP53 pathogenic variants (PVs) increases with earlier diagnosis age, little is known about the correlation with age at diagnosis in other predisposition genes. Here, we assessed the contribution of known breast cancer-associated genes to very early onset disease. METHODS: Sequencing of BRCA1, BRCA2, TP53 and CHEK2 c.1100delC was undertaken in women with breast cancer diagnosed ≤30 years. Those testing negative were screened for PVs in a minimum of eight additional breast cancer-associated genes. Rates of PVs were compared with cases ≤30 years from the Prospective study of Outcomes in Sporadic vs Hereditary breast cancer (POSH) study. RESULTS: Testing 379 women with breast cancer aged ≤30 years identified 75 PVs (19.7%) in BRCA1, 35 (9.2%) in BRCA2, 22 (5.8%) in TP53 and 2 (0.5%) CHEK2 c.1100delC. Extended screening of 184 PV negative women only identified eight additional actionable PVs. BRCA1/2 PVs were more common in women aged 26-30 years than in younger women (p=0.0083) although the younger age group had rates more similar to those in the POSH cohort. Out of 26 women with ductal carcinoma in situ (DCIS) alone, most were high-grade and 11/26 (42.3%) had a PV (TP53=6, BRCA2=2, BRCA1=2, PALB2=1). This PV yield is similar to the 61 (48.8%) BRCA1/2 PVs identified in 125 women with triple-negative breast cancer. The POSH cohort specifically excluded pure DCIS which may explain lower TP53 PV rates in this group (1.7%). CONCLUSION: The rates of BRCA1, BRCA2 and TP53 PVs are high in very early onset breast cancer, with limited benefit from testing of additional breast cancer-associated genes.
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Neoplasias de la Mama/genética , Quinasa de Punto de Control 2/genética , Genes BRCA1 , Genes BRCA2 , Mutación , Adulto , Edad de Inicio , ADN de Neoplasias , Femenino , Genes p53 , Humanos , Análisis de Secuencia de ADNRESUMEN
INTRODUCTION: The COVID-19 pandemic has resulted in unprecedented strain on the health care system. An adaptive strategy for the handling of thrombectomy for patients with large vessel occlusion has evolved at our center to optimize patient care while also minimizing risk of virus transmission. The purpose of this study was to evaluate the effects of the new thrombectomy protocol by comparing thrombectomy times and patient outcomes during the pandemic and pre pandemic period. METHODS: A retrospective cohort study was conducted on patients who underwent emergent thrombectomy from April 4th, 2020 to August 25th, 2020 (pandemic period) and between December 2nd, 2019 to April 3rd, 2020 (pre-pandemic period). The new protocol centered on a standardized approach to airway management in patients considered 'high-risk' for infection. An array of patient-specific factors and outcomes were compared between the two groups. RESULTS: A total of 126 patients were included in the study. There was no significant difference in door-to-recanalization or other time parameters between the two groups (138 minutes during the pandemic vs. 129 minutes pre-pandemic; p=0.37). However, outcomes measured as discharge modified Rankin Scale (mRS) were worse for patients during the pandemic (mRS ≤ 2, 10/58; 17.2% during pandemic vs. 24/68; 35.3% pre-pandemic, pâ¯=â¯0.02). No neurointerventional providers have been found to contract COVID-19. CONCLUSION: Our approach to mechanical thrombectomy during the COVID-19 era was associated with similar recanalization rates but worse clinical outcomes compared to pre pandemic period. Further studies are necessary to identify factors contributing to worse outcomes during this ongoing pandemic.
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Arteriopatías Oclusivas/cirugía , COVID-19 , Trastornos Cerebrovasculares/cirugía , Procedimientos Endovasculares/métodos , Pandemias , Accidente Cerebrovascular/cirugía , Anciano , Anciano de 80 o más Años , Manejo de la Vía Aérea , Circulación Cerebrovascular , Protocolos Clínicos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Trombectomía , Tiempo de Tratamiento , Resultado del TratamientoRESUMEN
OBJECTIVE: To evaluate the use of a modified minimally invasive surgery (MIS) technique for far lateral lumbar discectomy (FLDH) that minimizes the degree of bony drilling required for nerve root decompression, increasing postoperative pain reduction rate with reduced risk of iatrogenic spinal instability. SUMMARY OF BACKGROUND DATA: FLDH accounts for approximately 10% of all lumbar disc herniations and is increasingly recognized in the era of advanced imaging techniques. These disc herniations typically result in extra-foraminal nerve root compression. Minimally invasive spine techniques are increasingly performed with various degrees of foraminal and facet removal to decompress the affected nerve root. METHODS: The study design involves a single institutional, retrospective cohort technical review. The review was completed of all patients undergoing MIS far lateral lumbar discectomy between 2010 and 2020. Cross-sectional, summary statistics were calculated for all variables. Counts and percentages were recorded for categorical variables and mean and standard deviations were calculated for continuous variables. RESULTS: A total of 48 patients underwent MIS far lateral lumbar discectomies (FLLD) from 2010 to 2020. The mean age was 63 ± 11.5 years (60.4% males), the mean BMI was 28.5 ± 5.5, and 20.8% smokers. The most common presenting complaint was both low back and radicular pain (79.2%) with 8.3% of patients suffering from motor weakness preoperatively. The mean follow-up time was 4.3 ± 2.7. The mean length of stay was 1.3 ± 1.4 days with 77.1% of patients discharged postoperative day one. Forty-three patients (93.5%) had improvement in their symptoms. Twenty-seven (58.7%) had complete resolution in 2.6 months on average. Six patients (13%) had immediate symptom resolution postoperatively. CONCLUSIONS: Our modified technique for FLLD allows MIS access to the extra-foraminal site of nerve root compression without the need for bony drilling. This minimizes postoperative pain and reduces the risk of iatrogenic spinal instability without sacrificing symptom resolution.
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Introduction: There remains a paucity of literature examining the decision algorithm for use of nasoseptal flap (NSF) after endoscopic endonasal approaches (EEA) to pituitary adenoma resection. In 2018, we published the first ever flap risk score (FRS) to predict the use of NSF. We present here a validity study examining the FRS as applied to our center. Methods: A retrospective review was completed of consecutive patients undergoing EEA from January 2015 to March 2021. The sensitivity, specificity, and predictive value of the FRS were calculated. A multivariate logistic model was used to determine the relative weight imaging characteristics in predicting need for NSF. The relative weighting of the FRS was then re-optimized. Results: A total of 376 patients underwent EEA for pituitary adenoma resection, with 113 (30.1%) requiring NSF. The FRS had a sensitivity and specificity of 43.4% and 94.7%, respectively. Sphenoid sinus extension increased the odds of needing a NSF equivalent to 19 mm of tumor height, as opposed to 6 mm in the original 2018 cohort. The re-optimized model had sensitivity and specificity of 79.6% and 76.4%, respectively. Conclusion: We present a validity study examining the utility of FRS in predicting the use of NSF after EEA for pituitary adenoma resection. Our results show that while FRS is still predictive of the need for NSF after EEA, it is not as predictive now as it was for its original cohort. Therefore, a more comprehensive model is necessary to more accurately stratify patients' preoperative risk for NSF.
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OBJECTIVE: Carotid webs (CWs) are an increasingly recognized source of recurrent stroke among young patients without conventional vascular risk factors. There have been no previous studies demonstrating that specific web morphological characteristics correlate with a higher stroke risk. The authors aim to report distinct morphological features of symptomatic and asymptomatic CWs. METHODS: The authors performed a cross-sectional study of patients with CWs detected on CT angiography (CTA) of the neck. Patients were categorized based on whether or not they presented with stroke ipsilaterally and if it was likely to be attributable to their web. The following CW morphological variables were recorded and compared based on CTA: length, thickness, angle, and the proportion of carotid bulb lumen occupied by the web (web-to-bulb ratio [WBR]). RESULTS: A total of 86 CWs were identified, 14 of which presented with stroke (16.3%). Patients presenting with stroke had webs that were significantly longer (4.18 mm vs 2.20 mm, p = 0.001) and were situated at more acute angles relative to the carotid wall (73.2° vs 94.9°, p = 0.004). Additionally, patients presenting with stroke had higher WBRs compared to the asymptomatic cohort (0.50 vs 0.36, p = 0.008). The optimal threshold associated with stroke was web length ≥ 3.1 mm (OR 15.2, 95% CI 3.73-61.8; p < 0.001), web angle ≤ 90.1° (OR 5.00, 95% CI 1.42-17.6; p = 0.012), and WBR ≥ 0.50 (OR 30.0, 95% CI 5.94-151; p < 0.001). CONCLUSIONS: Patients with CWs that occupy more than half of the diameter of the carotid bulb lumen and are situated at acute angles relative to the carotid wall are more likely to present with acute ischemic stroke. Additional studies are needed to determine the long-term outcomes of these lesions.
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Isquemia Encefálica , Estenosis Carotídea , Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Humanos , Estudios Transversales , Arterias Carótidas/diagnóstico por imagen , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/etiología , Factores de Riesgo , Estudios RetrospectivosRESUMEN
BACKGROUND: Central nervous system neurenteric cysts (NCs) represent a rare entity thought to arise from failure of the separation of endodermal and neuroectodermal elements during week 3 of embryogenesis. They account for 0.7-1.3% of all spinal cord lesions and are typically intradural extramedullary lesions located near the cervicothoracic junction. Most NCs are associated with multisystem malformation disorders, making a solitary extramedullary NC a rare entity. OBSERVATIONS: A 45-year-old man presented with progressive right lower-extremity weakness and an inability to walk. Cervical spine magnetic resonance imaging demonstrated an approximately 1.6 × 1.1 × 2.7-cm, T2 hyperintense, nonenhancing, intradural, extramedullary cystic lesion at the level of C6-7 eccentric to the right with atrophy of the spinal cord. An anterior surgical approach was used for resection of the cyst in totality with C6-7 corpectomies and anterior plating and fixation from C5 to T1. Postoperatively at 1 month, the patient denied any significant neck or arm pain and demonstrated improving right lower-extremity strength, allowing some funcitonal independence. LESSONS: A solitary, extramedullary cervical NC is a rare entity, with a posterior surgical approach for resection primarily described in the literature. The authors present anterior corpectomy and plating with fixation as a viable surgical approach for this rare pathology.
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Ewing sarcoma (ES) is an aggressive, high-grade neuroectodermal neoplasm that frequently manifests in children and young adults. Although ES without osseous involvement most commonly involves paravertebral regions of the spine, it very rarely presents as a primary intracranial tumor. This report discusses a unique presentation of an adult extraosseous ES arising from the pineal region with extension into the third and fourth ventricles and multiple drop metastases to the spine. This case demonstrates the application of current chemotherapeutic and adjuvant management and offers insight into possible treatment modalities for metastasis in an atypical extraosseous ES involving the brain and spine.