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CONTEXT: Central nervous system germ cell tumors (CNSGCTs) though rare is the second most common extragonadal site for GCTs. AIMS: To determine the clinicopathological features of CNSGCTs diagnosed at our center. SETTINGS AND DESIGN: A retrospective study of all histologically diagnosed CNSGCTs, during 2006-2019. MATERIALS AND METHODS: The patients' data were retrieved from the hospital information systems and analyzed. STATISTICAL ANALYSIS: Data on categorical variables were analyzed as percentages, and data on continuous variables calculated as mean. Chi-square test or Fisher's exact test was used to study association between variables. RESULTS: Of the total 34 cases with CNSGCT, age ranged from 1 to 27 years, majority in the second decade (19/34; 56%). Male: female (M: F) ratio was 1.6:1. Single site involvement was seen in 27 cases (27/34; 79%), whereas seven (7/34; 21%) showed bi/multifocal involvement. Among the unifocal cases, common sites involved were suprasellar (12/27; 44.4%), closely followed by the pineal (10/27; 37%). All multifocal tumors affected suprasellar compartment, being bifocal with pineal in four cases. A male gender predilection was noted among pineal region (9/10;90%) and multifocal tumors (5/7;71%). Germinoma was the commonest subtype (21/34; 61.8%) with male gender predilection (17/21; 81%) (M: F =4.3:1), with female predilection seen among mixed GCTs (MGCTs) (8/10; 80%) (M: F =1:4) and suprasellar location (M: F =1:2). Serum tumor markers (25 cases) and CSF markers (7 cases) were concordant with histology in all, except two cases. CONCLUSION: Though histology and immunohistochemistry were diagnostic, correlation between serum and/or CSF marker was essential to rule out GCT component(s) that may be missed on biopsy due to sampling error.
Assuntos
Neoplasias do Sistema Nervoso Central , Neoplasias Embrionárias de Células Germinativas , Humanos , Masculino , Feminino , Estudos Retrospectivos , Neoplasias Embrionárias de Células Germinativas/patologia , Neoplasias Embrionárias de Células Germinativas/diagnóstico , Criança , Adulto , Adolescente , Adulto Jovem , Pré-Escolar , Neoplasias do Sistema Nervoso Central/patologia , Lactente , Biomarcadores Tumorais/sangueRESUMO
Geethu Babu The coronavirus pandemic has created havoc in every aspect of life including cancer care and was declared a pandemic. This audit was conducted to study the impact of the pandemic on diagnosis and treatment of newly diagnosed breast cancer patients at a tertiary cancer center in South India. A total of 1,647 patients who registered at Regional Cancer Centre (RCC), Thiruvananthapuram, Kerala, India for breast cancer during the period April 1, 2020, to September 30, 2020 (COVID-19 period) as well as April 1, 2019, to September 30, 2019 (pre-COVID-19 period) were included in the study. Data regarding the geographic distribution, stage at presentation, time factors for reporting for care, diagnosis, and treatment, referral for care elsewhere were collected and analyzed. The study was approved by the Institutional Review Board. Means and ranges were calculated for continuous type variables, and numbers and percentages for categorical variables. To determine whether there were significant differences between the two groups, independent t -test was used for continuous variables and chi-square test for categorical type of variables. A notable reduction (36%) in newly diagnosed breast cancer patients was seen in 2020 when compared with 2019. There was a significant difference in the geographic distribution of patients in both cohorts ( p = 0.001) and a notable reduction in the number of patients reporting to RCC for treatment from the northern districts of Kerala (81%) and outside Kerala (89.5%). There was no significant difference in the time (in weeks) since symptom onset and reporting to hospital or the clinical stage at diagnosis between the groups. Also, coronavirus disease 2019 (COVID-19) did not seem to negatively impact time intervals between date of registration and pathological diagnosis or start of primary treatment. More patients received neoadjuvant systemic therapy during 2020 compared with 2019, and this difference was statistically significant ( p = 0.004). There was no difference in the type of surgery (breast-conserving surgery vs. modified radical mastectomy). The results demonstrate that COVID-19 did not appear to negatively impact the diagnosis and treatment of newly diagnosed breast cancer patients. However, this is largely attributable to the significantly less number of patients who registered, for whom the departments were able to maintain timely cancer care despite the difficult pandemic times. Significantly more patients received neoadjuvant systemic therapy in 2020.
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ABSTRACT: Renal cell carcinoma is one of the most lethal tumors of the urologic system and has high metastatic potential. The usual sites of metastasis are lung, bone, liver adrenal, lymph node, and brain. Thumb and oral cavity metastasis are unusual sites of metastasis. This case report describes two cases reported with unusual thumb and oral cavity metastasis. Patients with acral and oral metastasis are often misdiagnosed as benign inflammatory disease and treatment initiation is often delayed. This case report helps in drawing the attention that such lesions can be metastatic also.
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Objectives: Clinical spectrum of mitochondrial myopathy extends beyond chronic progressive external ophthalmoplegia (CPEO). While information on encephalomyopathies is abundant, clinical data on predominant myopathic presentation of mitochondrial disorders are lacking. Materials and Methods: Clinical, electrophysiological, biochemical, and follow-up data of patients with predominant myopathic presentation and muscle biopsy confirmed primary mitochondrial myopathy was obtained. We excluded known syndromes of mitochondrial cytopathies and encephalomyopathies. Results: Among 16 patients, 7 had CPEO, 4 had CPEO with limb-girdle muscle weakness (LGMW), and 5 had isolated LGMW. Systemic features included seizures with photosensitivity (n = 3), diabetes (n = 1), cardiomyopathy (n = 1), and sensorineural hearing loss (n = 1) and were more common in isolated LGMW. Elevated serum creatine kinase (CK) and lactate levels and electromyography (EMG) myopathic potentials were more frequent with LGMW. During follow-up, LGMW had more severe progression of weakness. Conclusion: We identified three subsets of mitochondrial myopathy with distinct clinical features and evolutionary patterns. Isolated LGMW was seen in 30% of patients and would represent severe end of the spectrum.