Αρχειοθήκη ιστολογίου

Αναζήτηση αυτού του ιστολογίου

Πέμπτη 3 Φεβρουαρίου 2022

Metastatic Meningioma of the Neck: A Case Report and Systematic Review

xlomafota13 shared this article with you from Inoreader

1402695

Background: Although meningiomas are the most common central nervous system neoplasms, extracranial metastases are exceedingly rare. There are even fewer reports of metastatic meningiomas to the neck. Methods: We described a patient with multiply recurrent orbital meningioma with metastasis to the neck found incidentally during neck exploration for composite resection and free tissue reconstruction. We performed a systematic review for all records pertaining to metastatic meningiomas to the cervical regions. Results: We found 9 previous reports of cervical metastatic meningiomas. Almost all cases underwent extensive local resection. There was no evidence of an association between the histological grade of the tumor and risk of metastasis to the neck. Cervical lymph node dissemination is more common in patients presenting after previous primary tumor resection. Conclusions: In the context of a neck mass, our findings suggest that metastatic meningioma should be included in the differential diagnosis, especially in patients with previous resections.
ORL
View on the web

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease

xlomafota13 shared this article with you from Inoreader

J Med Genet. 2022 Feb 2:jmedgenet-2021-108219. doi: 10.1136/jmedgenet-2021-108219. Online ahead of print.

ABSTRACT

Oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome is due to an abnormal development of first and second branchial arches derivatives during embryogenesis and is characterised by hemifacial microsomia associated with auricular, ocular and vertebral malformations. The clinical and genetic heterogeneity of this spectrum with incomplete penetrance and variable expressivity, render its molecular diagnosis difficult. Only a few recurrent CNVs and genes have been identified as causatives in this complex disorder so far. Prenatal environmental causal factors have also been hypothesised. However, most of the patients remain without aetiology. In this review, we aim at updating clinical diagnostic criteria and describing genetic and non-genetic aetiologies, animal models as well as novel diagnostic tools and surgical managemen t, in order to help and improve clinical care and genetic counselling of these patients and their families.

PMID:35110414 | DOI:10.1136/jmedgenet-2021-108219

View on the web