Paediatric-type diffuse low-grade gliomas: a clinically and biologically distinct group of tumours with a favourable outcome

: The WHO 2021 classification of central nervous system cancers distinguishes diffuse gliomas that arise in adults (referred to as the "adult type") and those that arise in children (defined as "paediatric") based on clinical and molecular characteristics."). However, paediatric-type gliomas may occasionally be present in younger adults and occasionally adult-type gliomas may occur in children. Diffuse low-grade paediatric glioma includes diffuse astrocytoma altered by MYB or MYBL1, low-grade polymorphic juvenile neuroepithelial tumour, angiocentric glioma, and diffuse low-grade glioma with an altered MAPK pathway. Here, we examine these newly recognised entities according to WHO diagnostic criteria and propose an integrated diagnostic approach that can be used to separate these clinically and biologically distinct tumor groups

Treatment and follow-up of genital lichen sclerosus in male children: multidisciplinary management at a tertiary care center

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Integrated diagnostics in low-grade pediatric gliomas: pilocytic astrocytoma and MAP-Kinase pathway

Secondo la classificazione OMS dei Tumori del Sistema Nervoso Centrale pubblicata nel 2021, l'astrocitoma pilocitico appartiene alle lesioni di grado 1. Questa neoplasia ha un tasso di sopravvivenza a 5 anni di oltre il 95% nei bambini e nei giovani adulti, che è uno dei più alti tassi di sopravvivenza di qualsiasi tumore cerebrale. Tuttavia sono disponibili pochi dati sul tasso di recidiva della neoplasia nell'arco di 10 anni, nonché sulla progressione a forme anaplastiche. Scopo di questo lavoro è la revisione di un'ampia casistica di pazienti pediatrici affetti da astrocitoma pilocitico con un lungo periodo di follow-up, correlando ai dati clinici le alterazioni molecolari del pathway delle MAP-Kinasi (descritte come le più frequenti in questa entità).According to the WHO Classification of Tumors of the Central Nervous System published in 2021, pilocytic astrocytoma belongs to grade 1 lesions. This neoplasm has a 5-year survival rate of over 95 percent in children and young adults, which is one of the highest survival rates of any brain tumor. However few details are available about the rate of recurrence of the neoplasia over 10 years, as well as about the incidence of progression to anaplastic forms. The aim of this work is the review of a large series of pediatric patients affected by pilocytic astrocytoma in a long follow-up period, correlating the clinical data to the MAP-kinase pathway alterations, described as the most frequent in this entity

A rare case of intracranial extra-axial ependymoma

Intracranial extra-axial ependymomas (IEAEs) are extremely uncommon tumors and they could have a wide spectrum of clinical and radiological features. Here we report morphological features of an extra-axial ependymoma (radiology, histology and ultrastructural details) which mimicked the presentation of meningioma

Breast lesions with myoepithelial phenotype

Myoepithelial cells (MECs) constitute a continuous layer of cells surrounding the breast glands, localised between the epithelial cells (ECs) and the basal membrane. MECs play important roles in normal mammary gland as they produce basal membrane and stimulate secretion. During neoplastic transformation, MECs act as a barrier preventing stromal invasion. MECs themselves can undergo a great variety of changes, ranging from hyperplastic to metaplastic, to neoplastic, and giving rise to a wide spectrum of morphological pictures sometimes difficult to interpret on routine diagnoses. Several benign and malignant breast tumours can present features of MECs differentiation. As these latter tumours are quite infrequent, the purpose of the present study is to offer a review of the morphological spectrum of MECs lesions, with correlations to prognosis. Keywords: breast; epithelial cell; myoepithelial cell; myoepithelial cell differentiation; myoepitheliosi

Cytological Features of Palisaded Mammary-Type Myofibroblastoma

Palisaded mammary-type myofibroblastoma is a rare variant of benign stromal spindle cell tumor whose histological features are well known. Nevertheless, no cytological features have been reported to date. In this article, we describe the cytological features of a case of palisaded mammary-type myofibroblastoma in which a preoperative fine needle aspirate was obtained. Smears were moderately cellular, characterized by clusters of spindle cells, disposed in a parallel fashion and immersed in myxoid background. Although the lesion is rare, it is worth distinguishing from benign and malignant spindle cell tumors

First documented case of intracranial falcine malignant peripheral nerve sheath tumor: illustrative case

BACKGROUND The authors reported the first documented case of intracranial extraaxial nonneurofibromatosis type 1–related nontriton malignant peripheral nerve sheath tumor (MPNST) originating from the falx cerebri. OBSERVATIONS A 34-year-old man with headache, short-term memory deficit, postural instability, and blurred vision presented with a large heterogenous contrast-enhanced intraventricular cystic lesion originating from the free margin of the falx cerebri. The patient received surgery using the right posterior interhemispheric approach. Gross total resection was performed, and the inferior border of the falx cerebri was resected. The postoperative course was uneventful. Histological examination revealed hypercellular foci of neoplastic spindle cells with hyperchromatic and wavy nuclei. Hence, a diagnosis of MPNST was made based on concomitant immunochemistry findings, including mouse double minute 2 homolog focal positivity and geographic loss of H3K27me3. The patient received adjuvant radiotherapy, and recurrence was not observed. LESSONS Intracranial MPNSTs are extremely rare tumors, typically originating from the cranial nerves in the posterior cranial fossa. An even rarer variant of these tumors, referred to as malignant intracerebral nerve sheath tumors, may directly arise from the brain parenchyma. The authors reported the first case of an intracranial MPNST originating from the dura mater of the falx cerebri, acting as an extraaxial lesion with prevalent expansion in the right ventricle

Infra-Temporal and Pterygo-Palatine Fossae Tumors: A Frontier in Endoscopic Endonasal Surgery—Description of the Surgical Anatomy of the Approach and Report of Illustrative Cases

Infratemporal and pterygopalatine fossae (ITF and PPF) represent two complex paramedian skull base areas, which can be defined as jewelry boxes, containing a large number of neurovascular and osteomuscular structures of primary importance. They are in close communication with many craniofacial areas, such as nasal/paranasal sinuses, orbit, middle cranial fossa, and oral cavities. Therefore, they can be involved by tumoral, infective or inflammatory lesions spreading from these spaces. Moreover, they can be the primary site of the development of some primitive tumors. For the deep-seated location of ITF and PPF lesions and their close relationship with the surrounding functional neuro-vascular structures, their surgery represents a challenge. In the last decades, the introduction of the endoscope in skull base surgery has favored the development of an innovative anterior endonasal approach for ITF and PPF tumors: the transmaxillary-pterygoid, which gives a direct and straightforward route for these areas. It has demonstrated that it is effective and safe for the treatment of a large number of benign and malignant neoplasms, located in these fossae, avoiding extensive bone drilling, soft tissue demolition, possibly unaesthetic scars, and reducing the risk of neurological deficits. However, some limits, especially for vascular tumors or lesions with lateral extension, are still present. Based on the experience of our multidisciplinary team, we present our operative technique, surgical indications, and pre- and post-operative management protocol for patients with ITF and PPF tumors