Primary Anaplastic-Lymphoma-Kinase-Positive Large-Cell Lymphoma of the Central Nervous System: Comprehensive Review of the Literature.

BACKGROUND: Primary anaplastic-lymphoma-kinase (ALK)-positive large-cell lymphoma of the central nervous system (PCNS ALK-positive ALCL) is a rare entity, with a limited consensus reached regarding its management. While this pathology often presents as solitary lesions, the occurrence of multiple tumors within the brain is not uncommon. The lack of distinctive radiological features poses a diagnostic challenge, leading to delays in initiating targeted therapy. METHODS: We conducted a comprehensive literature search, identifying seventeen publications for qualitative analysis. RESULTS: The management options and reported patient outcomes in the literature varied significantly, emphasizing the need for a patient-specific approach. The emergence of ALK-specific inhibitors represents a new frontier in this field, demonstrating promising results. CONCLUSION: PCNS ALK-positive ALCL necessitates a comprehensive understanding and optimized management strategies. A tailored therapeutic approach, integrating surgical intervention with radiotherapy and chemotherapy, appears pivotal in addressing this pathology. The implementation of a therapeutic protocol is anticipated for further advancement in this field.

Extraneural Sclerosing Perineurioma of the Tongue.

Perineurioma (PN) is an uncommon benign peripheral nerve sheath tumor. For the rarity of this tumor in the oral cavity, otolaryngologists and oral surgeons might not be familiar with this entity. Perineuriomas are typically benign and complete excision is deemed adequate management. Thus, their histological recognition is mandatory to avoid unnecessary overtreatment. We report the clinicopathologic findings of an uncommon variant, the Extraneural Sclerosing PN, in an unusual and never described site, the tongue.

Solitary fibrous tumor/hemangiopericytoma of the cervical spine: A systematic review of the literature with an illustrative case.

Background: In the WHO 2016 classification of central nervous system tumors, solitary fibrous tumors (SFT) and hemangiopericytomas (HPC) were considered part of the same category given a shared mutation. Nevertheless, since the new 2021 WHO classification, the term "hemangiopericytoma" has been retired, and SFT is considered an independent pathological entity. Methods: We reviewed the literature following preferred reporting items for systematic reviews and meta-analyses guidelines focusing on the treatment options and prognosis of patients with cervical SFT. We also present a 68-year-old female with spinal intradural extramedullary SFT complicated by diffuse extension into paravertebral tissues and muscles. Results: We found 38 cervical SFT in the literature. Patients averaged 47.3 years of age and 47.4% were female. Typically, these lesions spanned two spinal levels resulting in cord compression and most frequently exhibited benign features (i.e., diagnosed as Grade I SFTs). Interestingly, two patients exhibited distant metastases and had initial pathology consistent with grade II SFT. Conclusion: SFT of the cervical spine is rare and its management varies according to the histological grade and the clinical behavior, generally warranting surgical excision and adjuvant radiation therapy and/or systemic chemotherapy.

Primary intraosseous solitary fibrous tumor: an extremely rare case report and brief review of the literature.

Solitary fibrous tumor (SFT), a rare mesenchymal neoplasm of fibroblastic origin, was initially discovered in the mediastinal pleura and then described in many extra-pleural sites.The reports of primary solitary fibrous tumor of bone are extremely rare and only a few cases have been previously mentioned in the literature, most of which in flat and short bones.Here we present the case of a 53-year-old female, who was referred to the emergency department of a peripheral hospital after an accidental fall. Imaging studies revealed an intertrochanteric fracture with an underlying intramedullary lytic lesion. A biopsy was performed and a diagnosis of Ewing sarcoma was initially suggested. She arrived at our hospital where we reevaluated the case. The biopsy was reviewed and a diagnosis of intraosseous SFT was proposed. She underwent en-block resection of the proximal right femur.Primary SFTs of the bone are, like in our case, easily misdiagnosed due to the low specificity of the imaging studies and the extreme rarity of the localization. An accurate diagnosis and early resection are very important and with careful long-term follow-up is essential, particularly in those who with malignant behavior, for the early detection of possible recurrence or metastasis.

Recurrent Glioblastoma Treatment: State of the Art and Future Perspectives in the Precision Medicine Era.

Current treatment guidelines for the management of recurrent glioblastoma (rGBM) are far from definitive, and the prognosis remains dismal. Despite recent advancements in the pharmacological and surgical fields, numerous doubts persist concerning the optimal strategy that clinicians should adopt for patients who fail the first lines of treatment and present signs of progressive disease. With most recurrences being located within the margins of the previously resected lesion, a comprehensive molecular and genetic profiling of rGBM revealed substantial differences compared with newly diagnosed disease. In the present comprehensive review, we sought to examine the current treatment guidelines and the new perspectives that polarize the field of neuro-oncology, strictly focusing on progressive disease. For this purpose, updated PRISMA guidelines were followed to search for pivotal studies and clinical trials published in the last five years. A total of 125 articles discussing locoregional management, radiotherapy, chemotherapy, and immunotherapy strategies were included in our analysis, and salient findings were critically summarized. In addition, an in-depth description of the molecular profile of rGBM and its distinctive characteristics is provided. Finally, we integrate the above-mentioned evidence with the current guidelines published by international societies, including AANS/CNS, EANO, AIOM, and NCCN.

Solitary metastasis from renal cell carcinoma to the choroid plexus: A case illustration and review of the literature.

Background: Metastatic renal cell carcinoma (RCC) of the choroid plexus is an exceedingly rare condition, with only 35 reported cases to date. Surgical resection of these tumors poses a unique challenge to neurosurgeons since evidence-based treatment guidelines are yet to be designed. Case Description: The authors describe the case of a 58-year-old woman presenting with progressive neurological deterioration 5 years after a right nephrectomy for a WHO 2016 Stage I RCC. A head, contrast-enhanced, and magnetic resonance revealed signs of obstructive hydrocephalus and a homogeneously contrast-enhancing 5 cm mass located in the trigone of the right lateral ventricle. Furthermore, a search of the literature was performed in compliance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. After screening for duplicates, 35 publications met the eligibility criteria. Finally, 17 manuscripts were included for analysis. Moreover, a detailed description of an illustrative case is provided. The median age at diagnosis for intraventricular metastasis from RCC was 62.9 years, showing a slight female prevalence. The lateral ventricles were reported as the most frequent location with only one patient presenting with obstructive hydrocephalus caused by the obliteration of Monro foramen. Management options included either open craniotomy or radiosurgery. Conclusion: The management of choroid plexus metastasis from RCC is still controversial with various authors proposing different treatment strategies. In this article, in addition to an in-depth case description, a qualitative review of the literature on metastatic RCCs of the choroid plexus using the PRISMA is provided.

Comparison between CBCT superimposition protocol and S.T.A.P. method to evaluate the accuracy in implant insertion in guided surgery.

BACKGROUND: The aim of this study was to evaluate the accuracy of implant placement using static guided surgery. Two methods of measuring accuracy were compared, the superimposition of CBCT and the non-radiological Superimposition Touch Absolute Precision (S.T.A.P.) method. METHODS: In this prospective clinical study 23 implants were placed with static surgical template using a flapless technique and postextractive procedure. Six months after surgery, a postoperative CBCT was performed to assess the position of the implants and at the same time dental impressions were taken for the final prosthesis. The plaster models made at this stage have made it possible to obtain the position of the implants inserted using the probe technology. Preoperative and postoperative data were superimposed, deviations in the three dimensions of the space were calculated. The differences between the two measurement methods were assessed. RESULTS: The study showed no statistically significant differences between the two methods of measuring accuracy at the implant platform level, apex, or angles. The average real deviation detected at the implant platform level is 1.16±0.58 mm with CBCT, 1.22±0.55 mm with the S.T.A.P. method; at the apex level is 1.48±0.98 mm with CBCT, 1.47±0.72 mm with the S.T.A.P. method. The average difference between CBCT and S.T.A.P. method for real deviation is 0.06±0.75 mm at the platform level and 0.007±1.24 mm at the apex level. CONCLUSIONS: The present study showed that measuring accuracy by S.T.A.P. method was comparable to that obtained by CBCT superimposition.

Atypical granular cell tumor of the urinary bladder: A case report and literature review.

Granular cell tumors (GCTs) are rare neoplasms of neural origin and usually tend to have a benign behaviour. We report a case of a 54 years old woman with severe gross hematuria caused by an atypical granular cell tumor which was successfully managed with a transurethral resection of the bladder (TURB). No local recurrence was observed after a three-year follow-up. The appropriate histological characterization and subclassification (benign, atypical and malignant neoplasm) is mandatory for an optimal patient management, in order to offer an appropriate treatment and a correct follow-up.

Molecular and Clinical Insights in Malignant Brenner Tumor of the Testis With Liver Metastases:A Case Report.

Malignant Brenner Tumor (mBT) is extremely rare. Although BT are almost exclusive ovarian neoplasms, they may constitute a highly unusual tumor of the testis; in fact, only seven fully documented cases have been reported to date. Because of their rarity, the pathogenesis of these tumors has not been clarified and there is no standard therapeutic approach. We report the first case of epididymal mBT with synchronous, multiple, liver metastases and a very dramatic clinical course. Both primary tumor and metastasis were subjected to mutational analysis of 20 cancer associated genes. Primary tumor showed FGFR3 Tyr375Cys and PIK3CA His1047Arg missense mutations. Both mutations are reported as pathogenic in ClinVar database. The same FGFR3 mutation was present in liver metastasis. Based on these results we believe that the FGFR pathway could be an ideal candidate for personalized treatment, offering hope to a subset of patients with mBT. Personalized approach, including mutational analysis and molecular testing should be required in patients with rare tumors in order to clarify diagnosis and improve therapeutic strategies.

Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy.

BICD2 (BICD Cargo Adaptor 2, MIM*609797) mutations are associated with severe prenatal-onset forms of spinal muscular atrophy, lower extremity-predominant 2B (SMALED2B MIM 618291) or milder forms with childhood-onset (SMALED2A MIM 615290). Etiopathogenesis is not fully clarified and a wide spectrum of phenotypic presentations is reported, ranging from extreme prenatal forms with adverse outcome, to slow progressive late-onset forms. We report a fetus at 22 gestational weeks with evidence of Arthrogryposis Multiplex Congenita on ultrasound, presenting with fixed extended lower limbs and flexed upper limbs, bilateral clubfoot and absent fetal movements. A trio-based prenatal Exome Sequencing was performed, disclosing a de novo heterozygous pathogenic in frame deletion (NM_015250.3: c.1636_1638delAAT; p.Asn546del) in BICD2. After pregnancy termination, quantitative analysis on NeuN immunostained spinal cord sections of the ventral horns, revealed that neuronal density was markedly reduced compared to the one of an age-matched normal fetus and an age-matched type-I Spinal Muscular Atrophy sample, used as a comparative model. The present case, the first prenatally diagnosed and neuropathologically characterized, showed an early motor neuron loss in SMALED2B, providing further insight into the pathological basis of BICD2-opathies.

Fatal Takotsubo syndrome in critical COVID-19 related pneumonia.

COVID-19 can involve several organs and systems, often with indirect and poorly clarified mechanisms. Different presentations of myocardial injury have been reported, with variable degrees of severity, often impacting on the prognosis of COVID-19 patients. The pathogenic mechanisms underlying cardiac damage in SARS-CoV-2 infection are under active investigation. We report the clinical and autopsy findings of a fatal case of Takotsubo Syndrome occurring in an 83-year-old patient with COVID-19 pneumonia. The patient was admitted to Emergency Department with dyspnea, fever and diarrhea. A naso-pharyngeal swab test for SARS-CoV-2 was positive. In the following week his conditions worsened, requiring intubation and deep sedation. While in the ICU, the patient suddenly showed ST segment elevation. Left ventricular angiography showed decreased with hypercontractile ventricular bases and mid-apical ballooning, consistent with diagnosis of Takotsubo syndrome. Shortly after the patient was pulseless. After extensive resuscitation maneuvers, the patient was declared dead. Autopsy revealed a subepicardial hematoma, in absence of myocardial rupture. On histology, the myocardium showed diffuse edema, multiple foci of contraction band necrosis in both ventricles and occasional coagulative necrosis of single cardiac myocytes. Abundant macrophages CD68+ were detected in the myocardial interstitium. The finding of diffuse contraction band necrosis supports the pathogenic role of increased catecholamine levels; the presence of a significant interstitial inflammatory infiltrate, made up by macrophages, remains of uncertain significance.

Urothelial bladder carcinoma metastasizing to the eye: A systematic review and case report.

The eye is a rare site for disseminated malignancies; nevertheless, several tumors may metastasize to ocular structures. Few cases of urothelial and bladder cancer with eye involvement have been described in the literature thus far. The rarity of metastatic ocular localization implies an accurate differential diagnosis among the possible primary tumor sites. However, a specific diagnostic algorithm is not currently available, nor a defined therapeutic approach. Eye metastases are associated with advanced disease and poor prognosis. Physicians should be made aware of the possibility of eye involvement in patients with a past medical history of urothelial bladder cancer associated with ocular symptoms. The present case reports discusses the first documented case, to the best of our knowledge, of an urothelial bladder cancer metastasizing to the retro bulbar region that infiltrates the lacrimal gland. Furthermore, the report provides a systematic qualitative review of the current literature on eye metastases from urothelial bladder cancer using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses.