RESUMEN
Pleomorphic xanthoastrocytoma (PXA) is a rare low-grade glial neoplasm of the central nervous system accounting for less than 1% of all astrocytomas. Similar to other gliomas, it can rarely arise from glial nests in the meninges, manifesting as an extra-axial mass mimicking a meningioma. Extra axial PXA is an extremely rare entity. Therefore, there are no standardized guidelines. In this article, we report the fourth case, so far, of a solitary primary extra-axial PXA mimicking a meningioma in a 23-year-old woman who presented with temporal seizures and features of raised intracranial pressure. Through this case, we tried to discuss all treatment options.
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Astrocitoma , Neoplasias Meníngeas , Meningioma , Convulsiones , Humanos , Femenino , Neoplasias Meníngeas/patología , Neoplasias Meníngeas/diagnóstico , Astrocitoma/patología , Astrocitoma/diagnóstico , Adulto Joven , Convulsiones/etiología , Meningioma/patología , Meningioma/diagnóstico , Diagnóstico Diferencial , Hipertensión Intracraneal/etiología , Hipertensión Intracraneal/diagnósticoRESUMEN
BACKGROUND: In the dynamic realm of modern medicine, the advent of virtual reality technology heralds a transformative era, reshaping the contours of diagnosis and surgical planning with its immersive prowess. This study delves into the groundbreaking application of virtual reality in the intricate dance of neurosurgery, particularly spotlighting its role in the management of astrocytoma grade III-a cerebral challenge of significant complexity. CASE PRESENTATION: A 30-year-old Middle Eastern man from Syria grappled with the invisible tendrils of pain, manifesting as persistent headaches and a numbing sensation that crept into his neck and extremities. For two relentless months, the morning sun brought not hope but an intensification of his agony, rendering him unable to partake in the daily dance of life. The usual sentinels of relief, analgesic drugs, stood defeated, offering no respite. The neurological examination was normal, there were no pathological findings on sensory and motor examination, and he exhibited normal reflexes and neither meningeal nor cerebellar signs. He showed a family history of breast cancer. The initial foray into the enigmatic depths of his brain via computed tomography and magnetic resonance imaging imaging unveiled a finding in the right temporal lobe, a lesion that suggested something more sinister. Previous medical interventions included analgesic medications prescribed for persistent headaches, but they offered no relief. No other therapeutic interventions were administered prior to the current diagnosis. It was here that virtual reality technology emerged not as a mere tool but as a beacon of precision, casting a three-dimensional light on the shadowy intruder. This technological marvel allowed for meticulous measurement 21.8 × 14.5 mm and localization within the temporal theater, setting the stage for what was to come. With the path laid clear, the patient embarked on a surgical odyssey, a quest to excise the unwelcome guest. The operation was a triumph, a testament to human ingenuity and the symbiotic relationship between flesh and machine. The postoperative verdict was delivered through the lens of histopathology, confirming the presence of an astrocytoma grade III, a cerebral interloper known for its rapid proliferation. The battle, however, was far from over. Complementary radiotherapy and chemotherapy were enlisted as allies in this ongoing war, their potent forces working in concert to stave off the cellular insurgence. The patient's journey through the healing arts was charted by periodic clinical and neurological examinations, with laboratory tests and the vigilant gaze of brain magnetic resonance imaging ensuring a watchful eye was kept on any potential resurgence. CONCLUSIONS: In this narrative of resilience and technological prowess, we witness the harmonious fusion of human touch and digital precision, a partnership that redefines the boundaries of medicine and the art of healing, by use of virtual reality technology in the diagnosis of astrocytoma and enhancing the accuracy, effectiveness, and safety of neurosurgical procedures, which can ultimately benefit patients with brain tumors.
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Astrocitoma , Neoplasias Encefálicas , Imagen por Resonancia Magnética , Realidad Virtual , Humanos , Adulto , Masculino , Astrocitoma/cirugía , Astrocitoma/diagnóstico por imagen , Astrocitoma/diagnóstico , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/cirugía , Tomografía Computarizada por Rayos X , Procedimientos Neuroquirúrgicos/métodosRESUMEN
OBJECTIVES: To elucidate the relationship between DNA methylation profiling (DMP) and pathological diagnosis (PD) in pediatric glial and glioneuronal tumors with B-Raf proto-oncogene, serine/threonine kinase (BRAF) mutations, addressing their diagnostic challenges. METHODS: This retrospective study, conducted in Saudi Arabia, analyzed 47 cases from the Children's Brain Tumor Network online database using scanned images, next-generation sequencing data, and methylation profiles processed using the Heidelberg methylation brain tumor classifiers v12.5 and v12.8. The data was last access on 10 November 2023. RESULTS: The highest prevalence of BRAF mutations was observed in pilocytic astrocytoma and ganglioglioma. The DMP was consistent with PD in 23 cases, but discrepancies emerged in others, including diagnostic changes in diffuse leptomeningeal glioneuronal tumor and polymorphous low-grade neuroepithelial tumor of the young. A key inconsistency appeared between a pilocytic astrocytoma MC and a glioneuronal tumor PD. Two high-grade astrocytomas were misclassified as pleomorphic xanthoastrocytomas. Additionally, low variant allelic frequency in gangliogliomas likely contributed to misclassifications as control in 5 cases. CONCLUSION: This study emphasized the importance of integrating DMP with PD in diagnosing pediatric glial and glioneuronal tumors with BRAF mutations. Although DMP offers significant diagnostic insights, its limitations, particularly in cases with low tumor content, necessitate cautious interpretation, as well as its use as a complementary diagnostic tool, rather than a definitive method.
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Neoplasias Encefálicas , Metilación de ADN , Mutación , Proto-Oncogenes Mas , Proteínas Proto-Oncogénicas B-raf , Humanos , Proteínas Proto-Oncogénicas B-raf/genética , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patología , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/diagnóstico por imagen , Niño , Masculino , Femenino , Metilación de ADN/genética , Estudios Retrospectivos , Preescolar , Ganglioglioma/genética , Ganglioglioma/patología , Ganglioglioma/diagnóstico por imagen , Adolescente , Glioma/genética , Glioma/patología , Glioma/diagnóstico , Astrocitoma/genética , Astrocitoma/patología , Astrocitoma/diagnóstico por imagen , Astrocitoma/diagnóstico , Lactante , Arabia SauditaRESUMEN
Spinal cord astrocytoma (SCA) is a rare subtype of astrocytoma, posing challenges in diagnosis and treatment. Low-grade SCA can achieve long-term survival solely through surgery, while high-grade has a disappointing prognosis even with comprehensive treatment. Diagnostic criteria and standard treatment of intracranial astrocytoma have shown obvious limitations in SCA. Research on the molecular mechanism in SCA is lagging far behind that on intracranial astrocytoma. In recent years, huge breakthroughs have been made in molecular pathology of astrocytoma, and novel techniques have emerged, including DNA methylation analysis and radiomics. These advances are now making it possible to provide a precise diagnosis and develop corresponding treatment strategies in SCA. Our aim is to review the current status of diagnosis and treatment of SCA, and summarize the latest research advancement, including tumor subtype, molecular characteristics, diagnostic technology, and potential therapy strategies, thus deepening our understanding of this uncommon tumor type and providing guidance for accurate diagnosis and treatment.
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Astrocitoma , Neoplasias de la Médula Espinal , Humanos , Astrocitoma/genética , Astrocitoma/terapia , Astrocitoma/diagnóstico , Astrocitoma/patología , Neoplasias de la Médula Espinal/terapia , Neoplasias de la Médula Espinal/genética , Neoplasias de la Médula Espinal/diagnóstico , Neoplasias de la Médula Espinal/patología , Biomarcadores de Tumor/genética , Patología Molecular , Metilación de ADN , Manejo de la Enfermedad , Pronóstico , Clasificación del TumorRESUMEN
PURPOSE: DNA methylation profiling stratifies isocitrate dehydrogenase (IDH)-mutant astrocytomas into methylation low- and high-grade groups. We investigated the utility of the T2-fluid-attenuated inversion recovery (T2-FLAIR) mismatch sign for predicting DNA methylation grade and cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) homozygous deletion, a molecular biomarker for grade 4 IDH-mutant astrocytomas, according to the 2021 World Health Organization classification. EXPERIMENTAL DESIGN: Preoperative MRI scans of IDH-mutant astrocytomas subclassified by DNA methylation profiling (n = 71) were independently evaluated by two radiologists for the T2-FLAIR mismatch sign. The diagnostic utility of T2-FLAIR mismatch in predicting methylation grade, CDKN2A/B status, copy number variation, and survival was analyzed. RESULTS: The T2-FLAIR mismatch sign was present in 21 of 45 (46.7%) methylation low-grade and 1 of 26 (3.9%) methylation high-grade cases (P < 0.001), resulting in 96.2% specificity, 95.5% positive predictive value, and 51.0% negative predictive value for predicting low methylation grade. The T2-FLAIR mismatch sign was also significantly associated with intact CDKN2A/B status (P = 0.028) with 87.5% specificity, 86.4% positive predictive value, and 42.9% negative predictive value. Overall multivariable Cox analysis showed that retained CDKN2A/B status remained significant for progression-free survival (P = 0.01). Multivariable Cox analysis of the histologic grade 3 subset, which was nearly evenly divided by CDKN2A/B status, copy number variation, and methylation grade, showed trends toward significance for DNA methylation grade with overall survival (P = 0.045) and CDKN2A/B status with progression-free survival (P = 0.052). CONCLUSIONS: The T2-FLAIR mismatch sign is highly specific for low methylation grade and intact CDKN2A/B in IDH-mutant astrocytomas.
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Astrocitoma , Inhibidor p15 de las Quinasas Dependientes de la Ciclina , Inhibidor p16 de la Quinasa Dependiente de Ciclina , Metilación de ADN , Isocitrato Deshidrogenasa , Mutación , Humanos , Astrocitoma/genética , Astrocitoma/patología , Astrocitoma/mortalidad , Astrocitoma/diagnóstico , Inhibidor p16 de la Quinasa Dependiente de Ciclina/genética , Femenino , Persona de Mediana Edad , Masculino , Isocitrato Deshidrogenasa/genética , Adulto , Inhibidor p15 de las Quinasas Dependientes de la Ciclina/genética , Anciano , Imagen por Resonancia Magnética/métodos , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/mortalidad , Neoplasias Encefálicas/patología , Neoplasias Encefálicas/diagnóstico , Biomarcadores de Tumor/genética , Clasificación del Tumor , Pronóstico , Variaciones en el Número de Copia de ADNRESUMEN
Astrocytoma is the most common adult brain tumor, with glioblastoma being the deadliest neuro-related malignancy. Despite advances in oncology, the prognosis for astrocytoma, especially glioblastoma, remains poor, and tracking disease progression is challenging due to a lack of robust biomarkers. Genetic biomarkers, including microRNAs, cell-free DNA, circulating tumor DNA, circular RNA, and long noncoding RNA, can serve as potential diagnostic and therapeutic targets. In this review, we examine the existing literature, analyzing the various less established liquid and tumor genetic biomarkers and their potential to act as diagnostic, prognostic, and therapeutic targets. We highlight the clinical challenges and limitations in implementing liquid biopsy strategies in clinical practice. The article discusses the potential of liquid biopsies as valuable tools for personalized astrocytoma management while emphasizing the need for standardized protocols and further advancements to establish their clinical utility and therapeutic application.
Asunto(s)
Astrocitoma , Biomarcadores de Tumor , Neoplasias Encefálicas , Humanos , Astrocitoma/genética , Astrocitoma/diagnóstico , Astrocitoma/terapia , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/terapia , Biomarcadores de Tumor/genética , Pronóstico , Biopsia Líquida/métodos , MicroARNs/genética , Marcadores Genéticos/genéticaRESUMEN
Azoospermia is a form of male infertility characterized by a complete lack of spermatozoa in the ejaculate. Sertoli cell-only syndrome (SCOS) is the most severe form of azoospermia, where no germ cells are found in the tubules. Recently, FANCM gene variants were reported as novel genetic causes of spermatogenic failure. At the same time, FANCM variants are known to be associated with cancer predisposition. We performed whole-exome sequencing on a male patient diagnosed with SCOS and a healthy father. Two compound heterozygous missense mutations in the FANCM gene were found in the patient, both being inherited from his parents. After the infertility assessment, the patient was diagnosed with diffuse astrocytoma. Immunohistochemical analyses in the testicular and tumor tissues of the patient and adequate controls showed, for the first time, not only the existence of a cytoplasmic and not nuclear pattern of FANCM in astrocytoma but also in non-mitotic neurons. In the testicular tissue of the SCOS patient, cytoplasmic anti-FANCM staining intensity appeared lower than in the control. Our case report raises a novel possibility that the infertile carriers of FANCM gene missense variants could also be prone to cancer development.
Asunto(s)
Astrocitoma , Mutación Missense , Síndrome de Sólo Células de Sertoli , Humanos , Masculino , Astrocitoma/genética , Astrocitoma/patología , Astrocitoma/diagnóstico , Síndrome de Sólo Células de Sertoli/genética , Síndrome de Sólo Células de Sertoli/patología , Adulto , Secuenciación del Exoma , ADN Helicasas/genética , Azoospermia/genética , Azoospermia/patología , Azoospermia/diagnósticoAsunto(s)
Astrocitoma , Angiografía con Fluoresceína , Hamartoma , Papiledema , Esclerosis Tuberosa , Humanos , Esclerosis Tuberosa/complicaciones , Esclerosis Tuberosa/diagnóstico , Papiledema/diagnóstico , Papiledema/etiología , Hamartoma/diagnóstico , Hamartoma/complicaciones , Astrocitoma/complicaciones , Astrocitoma/diagnóstico , Enfermedades de la Retina/diagnóstico , Enfermedades de la Retina/etiología , Fondo de Ojo , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/diagnóstico , Astrocitos/patología , Femenino , Masculino , Imagen por Resonancia MagnéticaRESUMEN
A late adolescent with tuberous sclerosis (TS) presented with reduced vision in one eye to our tertiary care university hospital 4 years ago. Fundus examination revealed multiple retinal astrocytic hamartomas (RAHs) in both eyes. His younger sibling, who also had TS, was found to have RAH on retinal screening. The swept-source optical coherence tomography (SS-OCT) findings were typical of RAH. We further noted that some of the RAH lesions showed segmental whitening of the outer walls of the arterioles, which traversed through them. The segmental whitening may suggest the enveloping of normal retinal vessels by the tumour. En-face and B-scan SS-OCT angiography of patients with TS showed vascularity within the tumour. The vessels within the tumour appeared to be in continuity with the retinal vasculature. Both siblings were reviewed annually. At the end of 4 years, there was no change in visual acuity, tumour size, number, vascularity and behaviour.
Asunto(s)
Astrocitoma , Fondo de Ojo , Neoplasias de la Retina , Hermanos , Tomografía de Coherencia Óptica , Esclerosis Tuberosa , Humanos , Esclerosis Tuberosa/complicaciones , Esclerosis Tuberosa/diagnóstico , Masculino , Astrocitoma/diagnóstico , Astrocitoma/complicaciones , Astrocitoma/diagnóstico por imagen , Tomografía de Coherencia Óptica/métodos , Neoplasias de la Retina/diagnóstico , Neoplasias de la Retina/diagnóstico por imagen , Adolescente , Estudios de Seguimiento , Angiografía con Fluoresceína/métodos , Agudeza VisualRESUMEN
BACKGROUND: Astrocytoma is a type of adult-type diffuse gliomas that includes diffuse astrocytoma (DA) and anaplastic astrocytoma (AA). However, comprehensive investigations into the risk assessment and prognosis of DA and AA using population-based studies remain noticeably scarce. METHODS: In this study, we developed 2 predictive nomograms to evaluate the susceptibility and prognosis associated with DA and AA. The study cohort comprised 3837 individuals diagnosed with DA or AA between 2010 and 2019 selected from the Surveillance, Epidemiology, and End Results (SEER) database. Independent predictors were identified and used to construct the nomograms for overall death and cancer-specific death rates. The performance of the models was assessed using C-index, calibration curves, and receiver operating characteristic curve, and the clinical applicability was evaluated using decision curve analysis. RESULTS: The receiver operating characteristic curves in this study show excellent clinical applicability and predictive power. Notably, the area under the curves of the training and verification queues was higher than 0.80, thereby cementing the models' precision. Additionally, the calibration plots demonstrate that the anticipated mortality rates strikingly match the measured values. This alignment of figures is sustained in the validation cohort. Furthermore, the decision curve analysis corroborates the models' translational potential, reinforcing their relevance within real-world clinical settings. CONCLUSIONS: The presented nomograms have not only exhibited good predictive performance but also showcased pragmatic clinical utility in prognosticating patient outcomes. Significantly, this will undoubtedly serve as a valuable asset for oncologists, facilitating informed treatment decisions and meticulous follow-up planning.
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Astrocitoma , Neoplasias Encefálicas , Nomogramas , Programa de VERF , Humanos , Astrocitoma/epidemiología , Astrocitoma/mortalidad , Astrocitoma/diagnóstico , Femenino , Masculino , Persona de Mediana Edad , Neoplasias Encefálicas/epidemiología , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/mortalidad , Adulto , Anciano , Pronóstico , Estudios de Cohortes , Curva ROC , Medición de Riesgo/métodosAsunto(s)
Astrocitoma , Neoplasias del Ventrículo Cerebral , Cuarto Ventrículo , Humanos , Astrocitoma/diagnóstico por imagen , Astrocitoma/cirugía , Astrocitoma/patología , Astrocitoma/diagnóstico , Cuarto Ventrículo/diagnóstico por imagen , Cuarto Ventrículo/patología , Cuarto Ventrículo/cirugía , Neoplasias del Ventrículo Cerebral/cirugía , Neoplasias del Ventrículo Cerebral/diagnóstico por imagen , Neoplasias del Ventrículo Cerebral/patología , Neoplasias del Ventrículo Cerebral/diagnóstico , Masculino , FemeninoRESUMEN
Pilomyxoid astrocytoma [PMA] is a rare, recently described variant of pilocytic astrocytoma with unique clinical and histopathological characteristics. It typically affects the optico-chiasmatic and hypothalamic region in infants and young children. Though the pilocytic astrocytoma is the commonest tumor of the optic nerve, pilomyxoid astrocytoma arising from the intraorbital part of the optic nerve is extremely rare. To the best of our knowledge, only one case of introrbital optic nerve pilomyxoid astrocytoma has been described in the English literature. We report two cases of pilomyxoid astrocytoma arising from the intraorbital optic nerve, diagnosed on intraoperative squash smear cytology and later confirmed on histopathology. Like in other locations, optic nerve pilomyxoid astrocytoma behaves in an aggressive manner.
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Astrocitoma , Imagen por Resonancia Magnética , Niño , Lactante , Humanos , Preescolar , Astrocitoma/diagnóstico , Astrocitoma/patología , Citodiagnóstico , Técnicas Citológicas , Nervio Óptico/patologíaAsunto(s)
Astrocitoma , Neoplasias Encefálicas , Esclerosis Tuberosa , Humanos , Esclerosis Tuberosa/complicaciones , Esclerosis Tuberosa/diagnóstico , Astrocitoma/diagnóstico , Astrocitoma/diagnóstico por imagen , Cognición , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/diagnóstico por imagenRESUMEN
ABSTRACT: Subependymal giant cell astrocytomas (SEGAs) are low-grade gliomas usually arising in the periventricular regions near the foramen of Monro seen exclusively with tuberous sclerosis complex. Incidence of hemorrhage in SEGA is less than 1% with only 10 cases reported in English literature. We present a similar case of SEGA with spontaneous intratumoral hemorrhage in a 35-year-old male with cutaneous manifestations of tuberous sclerosis complex and acute onset headache with convulsion.
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Astrocitoma , Neoplasias Encefálicas , Humanos , Masculino , Adulto , Astrocitoma/complicaciones , Astrocitoma/patología , Astrocitoma/diagnóstico , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/complicaciones , Neoplasias Encefálicas/patología , Hemorragia/etiología , Hemorragia/patología , Hemorragia/diagnóstico , Imagen por Resonancia Magnética , Esclerosis Tuberosa/complicaciones , Esclerosis Tuberosa/diagnóstico , Esclerosis Tuberosa/patologíaRESUMEN
Here, we describe a blood test for the detection of glial malignancies (GLI-M) based on the identification of circulating glial cells (CGCs). The test is highly specific for GLI-M and can detect multiple grades (II-IV) and subtypes including gliomas, astrocytomas, oligodendrogliomas, oligoastrocytomas and glioblastomas, irrespective of gender and age. Analytical validation of the test was performed as per Clinical and Laboratory Standards Institute (CLSI) guidelines. Real-world performance characteristics of the test were evaluated in four clinical (observational) studies. The test has high analytical sensitivity (95%), specificity (100%) and precision (coefficient of variation [CV] = 13.7% for repeatability and CV = 23.5% for within laboratory precision, both at the detection threshold) and is not prone to interference from common drugs and serum factors. The ability of the test to detect and differentiate GLI-M from non-malignant brain tumours (NBT), brain metastases from primary epithelial malignancies (EPI-M) and healthy individual donors (HD) was evaluated in four clinical cohorts. Across these clinical studies, the test showed 99.35% sensitivity (95% confidence interval [CI]: 96.44%-99.98%) and 100% specificity (95% CI: 99.37%-100%). The performance characteristics of this test support its clinical utility for diagnostic triaging of individuals presenting with intracranial space-occupying lesions (ICSOL).
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Astrocitoma , Neoplasias Encefálicas , Glioma , Oligodendroglioma , Humanos , Astrocitoma/diagnóstico , Astrocitoma/patología , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/patología , Glioma/patología , Neuroglía/patología , Oligodendroglioma/diagnóstico , Oligodendroglioma/patología , Estudios Observacionales como AsuntoRESUMEN
Our work reports implementation of a useful genetic diagnosis for the clinical managment of patients with astrocytic tumors. We investigated 313 prospectively recruited diffuse astrocytic tumours by applying the cIMPACT-NOW Update 3 signature. The cIMPACT-NOW Update 3 (cIMPACT-NOW 3) markers, i.e., alterations of TERT promoter, EGFR, and/or chromosome 7 and 10, characterized 96.4% of IDHwt cases. Interestingly, it was also found in 48,5% of IDHmut cases. According to the genomic profile, four genetic subgroups could be distinguished: (1) IDwt/cIMPACT-NOW 3 (n = 270); (2) IDHwt/cIMPACT-NOW 3 negative (= 10); (3) IDHmut/cIMPACT-NOW 3 (n = 16); and 4) IDHmut/cIMPACT-NOW 3 negative (n = 17). Multivariate analysis confirmed that IDH1/2 mutations confer a favorable prognosis (IDHwt, HR 2.91 95% CI 1.39-6.06), and validated the prognostic value of the cIMPACT-NOW 3 signature (cIMPACT-NOW 3, HR 2.15 95% CI 1.15-4.03). To accurately identify relevant prognostic categories, overcoming the limitations of histopathology and immunohistochemistry, molecular-cytogenetic analyses must be fully integrated into the diagnostic work-up of astrocytic tumors.
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Astrocitoma , Neoplasias Encefálicas , Glioma , Telomerasa , Humanos , Glioma/patología , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patología , Isocitrato Deshidrogenasa/genética , Telomerasa/genética , Astrocitoma/diagnóstico , Astrocitoma/genética , Pronóstico , Mutación , Medición de RiesgoAsunto(s)
Astrocitoma , Neoplasias Encefálicas , Humanos , Proteínas Proto-Oncogénicas B-raf/genética , Astrocitoma/diagnóstico , Astrocitoma/tratamiento farmacológico , Astrocitoma/genética , Neoplasias Encefálicas/tratamiento farmacológico , Neoplasias Encefálicas/genética , Quinasas de Proteína Quinasa Activadas por Mitógenos , MutaciónRESUMEN
BACKGROUND: Diencephalic Syndrome is an atypical early manifestation of low-grade gliomas; so, it is important to detect it in patients that experience a failure to thrive despite adequate length growth and food intake. The purpose of this article is to focus attention on this rare but potentially dangerous cause of poor weight gain or stunting in childhood. MATERIALS AND METHODS: We describe four patients with Diencephalic Syndrome and low-grade gliomas who were evaluated in our institution from January 2017 to December 2021. CASE DESCRIPTION AND RESULTS: two patients presented with suspected malabsorption, and two presented with a suspected eating disorder. In all cases, neurological symptoms appeared late, explaining the reason for the diagnostic delay, which impacts negatively on prognosis and on quality of life. Currently, patients 1 and 2 have stable disease in second-line therapy, patient 3 has stable disease post end of second-line therapy, and patient 4 has stable disease in first-line therapy. Everyone is in psychophysical rehabilitation. CONCLUSIONS: A multidisciplinary evaluation is essential in order to make an early diagnosis and improve prognosis and quality of life.
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Astrocitoma , Glioma , Humanos , Astrocitoma/complicaciones , Astrocitoma/diagnóstico , Astrocitoma/tratamiento farmacológico , Diagnóstico Tardío/efectos adversos , Calidad de Vida , Glioma/complicaciones , Glioma/diagnóstico , Insuficiencia de Crecimiento/etiología , SíndromeRESUMEN
Pilocytic astrocytomas are the most common pediatric brain tumors, typically presenting as low-grade neoplasms. We report two cases of pilocytic astrocytoma with atypical tumor progression. Case 1 involves a 12-yr-old boy with an unresectable suprasellar tumor, negative for BRAF rearrangement but harboring a BRAF p.V600E mutation. He experienced tumor size reduction and stable disease following dabrafenib treatment. Case 2 describes a 6-yr-old boy with a thalamic tumor that underwent multiple resections, with no actionable driver detected using targeted next-generation sequencing. Whole-genome and RNA-seq analysis identified an internal tandem duplication in FGFR1 and RAS pathway activation. Future management options include FGFR1 inhibitors. These cases demonstrate the importance of escalating molecular diagnostics for pediatric brain cancer, advocating for early reflexing to integrative whole-genome sequencing and transcriptomic profiling when targeted panels are uninformative. Identifying molecular drivers can significantly impact treatment decisions and improve patient outcomes.
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Astrocitoma , Neoplasias Encefálicas , Masculino , Niño , Humanos , Proteínas Proto-Oncogénicas B-raf/genética , Patología Molecular , Astrocitoma/diagnóstico , Astrocitoma/genética , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/metabolismo , MutaciónRESUMEN
A cerebral tumor was identified in an adult female domestic chicken (Gallus domesticus). On gross examination, the cut surface of the cerebrum revealed a poorly circumscribed, pale tan soft mass within the thalamus and midbrain. On histologic examination, there was an unencapsulated, multilobulated neoplasm composed of spindle cells on a loose fibrovascular stroma. Neoplastic cells had variably distinct cell borders, abundant fibrillar eosinophilic cytoplasm, oval nuclei with finely stippled chromatin, and 1-2 distinct nucleoli. There was moderate anisocytosis and anisokaryosis with <1 mitoses per 2.37 mm2. The morphologic features of the neoplastic cells were consistent with an astrocytic neoplasm. PCR was performed on formalin-fixed paraffin-embedded sections of brain tissue, which was negative for subgroup A avian leukosis virus. Based on these findings, the tumor was diagnosed as a presumed spontaneous astrocytoma.
Reporte de caso - Presunto astrocitoma espontáneo en un pollo doméstico de traspatio. Se identificó un tumor cerebral en una gallina doméstica adulta (Gallus domesticus). En el examen macroscópico, la superficie de corte del cerebro reveló una masa blanda de color canela pálido mal delimitada dentro del tálamo y el mesencéfalo. En el examen histológico, había una neoplasia multilobulada no encapsulada compuesta de células fusiformes sobre un estroma fibrovascular laxo. Las células neoplásicas tenían bordes celulares diferenciados de forma variable, abundante citoplasma eosinofílico fibrilar, núcleos ovalados con cromatina finamente punteada y 1 o 2 nucléolos distintos. Había anisocitosis moderada y anisocariosis con <1 mitosis por 2.37 mm2. Las características morfológicas de las células neoplásicas eran compatibles con una neoplasia astrocítica. Se realizó una PCR en secciones de tejido cerebral incluidas en parafina y fijadas con formalina, que resultó negativa para el virus de la leucosis aviar del subgrupo A. Con base en estos hallazgos, el tumor se diagnosticó como un presunto astrocitoma espontáneo.