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1.
Clin Neuroradiol ; 33(3): 611-624, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-36941392

RESUMEN

The classification of diffuse gliomas into the adult type and the pediatric type is the new basis for the diagnosis and clinical evaluation. The knowledge for the neuroradiologist should not remain limited to radiological aspects but should be based additionally on the current edition of the World Health Organization (WHO) classification of tumors of the central nervous system (CNS). This classification defines the 11 entities of diffuse gliomas, which are included in the 3 large groups of adult-type diffuse gliomas, pediatric-type diffuse low-grade gliomas, and pediatric-type diffuse high-grade gliomas. This article provides a detailed overview of important molecular, morphological, and clinical aspects for all 11 entities, such as typical genetic alterations, age distribution, variability of the tumor localization, variability of histopathological and radiological findings within each entity, as well as currently available statistical information on prognosis and outcome. Important differential diagnoses are also discussed.


Asunto(s)
Neoplasias Encefálicas , Glioma , Humanos , Adulto , Niño , Neoplasias Encefálicas/diagnóstico , Glioma/genética , Mutación , Pronóstico , Diagnóstico Diferencial
2.
J Neurooncol ; 159(2): 243-259, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35864412

RESUMEN

PURPOSE: Molecular diagnostics including next generation gene sequencing are increasingly used to determine options for individualized therapies in brain tumor patients. We aimed to evaluate the decision-making process of molecular targeted therapies and analyze data on tolerability as well as signals for efficacy. METHODS: Via retrospective analysis, we identified primary brain tumor patients who were treated off-label with a targeted therapy at the University Hospital Frankfurt, Goethe University. We analyzed which types of molecular alterations were utilized to guide molecular off-label therapies and the diagnostic procedures for their assessment during the period from 2008 to 2021. Data on tolerability and outcomes were collected. RESULTS: 413 off-label therapies were identified with an increasing annual number for the interval after 2016. 37 interventions (9%) were targeted therapies based on molecular markers. Glioma and meningioma were the most frequent entities treated with molecular matched targeted therapies. Rare entities comprised e.g. medulloblastoma and papillary craniopharyngeoma. Molecular targeted approaches included checkpoint inhibitors, inhibitors of mTOR, FGFR, ALK, MET, ROS1, PIK3CA, CDK4/6, BRAF/MEK and PARP. Responses in the first follow-up MRI were partial response (13.5%), stable disease (29.7%) and progressive disease (46.0%). There were no new safety signals. Adverse events with fatal outcome (CTCAE grade 5) were not observed. Only, two patients discontinued treatment due to side effects. Median progression-free and overall survival were 9.1/18 months in patients with at least stable disease, and 1.8/3.6 months in those with progressive disease at the first follow-up MRI. CONCLUSION: A broad range of actionable alterations was targeted with available molecular therapeutics. However, efficacy was largely observed in entities with paradigmatic oncogenic drivers, in particular with BRAF mutations. Further research on biomarker-informed molecular matched therapies is urgently necessary.


Asunto(s)
Neoplasias Encefálicas , Terapia Molecular Dirigida , Humanos , Mutación , Proteínas Tirosina Quinasas , Proteínas Proto-Oncogénicas , Proteínas Proto-Oncogénicas B-raf , Estudios Retrospectivos
3.
Neurol Res Pract ; 4(1): 40, 2022 Jul 18.
Artículo en Inglés | MEDLINE | ID: mdl-35850779

RESUMEN

BACKGROUND: The ongoing expansion of the cosmetic armamentarium of facial rejuvenation fails to uncover the inherent risks of cosmetic interventions. Informed consent to all risks of cosmetic filler injections and potential sequelae, including ocular and neurological complications, should be carefully ensured. We present two cases of complications following facial hyaluronic acid filler injections. CASE PRESENTATIONS: Case 1: A 43-year-old woman presented with monocular vision loss of the left eye, associated ptosis, ophthalmoplegia, periocular pain and nausea, cutaneous changes of the glabella region and forehead, and sensory impairment in the left maxillary branch dermatome (V2) after receiving a hyaluronic acid (HA) filler injection into the left glabellar area. On ophthalmological examination, an ophthalmic artery occlusion (OAO) was diagnosed upon identification of a "cherry-red spot". Magnetic resonance imaging (MRI) revealed a left ischemic optic neuropathy. Supportive therapy and hyaluronidase injections were initiated. A follow-up MRI of the head performed two months after presentation corresponded to stable MRI findings. The patient had irreversible and complete vision loss of the left eye, however, the ptosis resolved. Case 2: A 29-year-old woman was admitted to hospital a few hours after a rhinoplasty and cheek augmentation with hyaluronic acid, presenting with acute monocular vision loss in the right eye, retrobulbar pain, fatigue and vomiting. In addition, the patient presented a harbinger of impending skin necrosis and a complete oculomotor nerve palsy on the right side, choroidal ischemia and vision impairment. Supportive treatment and hyaluronidase injections into the ischemic tissue were initiated. A small scar at the tip of the nose, vision impairment and an irregular pupillary margin on the right side persisted at follow-up. CONCLUSION: These two case reports and the literature review emphasize the pathophysiological mechanisms leading to potentially devastating complications. In order to reduce the risk of vision loss secondary to cosmetic filler injections, practitioners should possess a thorough knowledge of anatomy and preventive strategies.

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