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6. Ollier Disease, Acute Myeloid Leukemia, and Brain Glioma: IDH as the Common Denominator.

Author

Corvino, Sergio, Somma, Teresa, Certo, Francesco, Bonomo, Giulio, Grasso, Erica, Esposito, Felice, Berardinelli, Jacopo, and Barbagallo, Giuseppe

Subjects
GLIOMA treatment, ENCHONDROMATOSIS, SYSTEMATIC reviews, GENE expression, GENETIC mutation
Abstract

Simple Summary: Thanks to the continuous refinement of diagnostic tools, the role of molecular markers analysis has become even more decisive in tumor diagnosis and classification and, accordingly, in the decision-making process of treatment, as emphasized by the most recent WHO Classification of the Tumors of the Central Nervous System (2021), and also by the WHO Classification of Hematolymphoid Tumors (2022). In this setting, the possibility to identify a genetic mutation common to three apparently completely different neoplasms, such as enchondromatosis, acute myeloid leukemia, and brain glioma, and affecting the same patient not only provides a better understanding of the bases of tumorigenesis but also opens the doors to the development of new targeted therapies and experimental treatments which could be effective for apparently different diseases. The present study identified in the IDH1-R132H gene mutation the etiopathogenetic common denominator among Ollier disease, brain glioma, and acute myeloid leukemia coexisting in the same patient. Ollier disease (OD), acute myeloid leukemia (AML), and brain glioma (BG) are three apparently completely different neoplasms in terms of histopathology, clinic, natural history, and management, but they can affect the same patient. This study aimed to identify the common molecular pathways involved in the pathogenesis of all three diseases and discuss their current and potential role as therapeutic targets. A detailed and comprehensive systematic literature review according to PRISMA guidelines on OD patients harboring BG and/or AML was made. In addition, the unique case of a patient affected by all three considered diseases has been added to our case series. Demographic, pathological, treatment, and outcome data were analyzed and discussed, mainly focusing on the molecular findings. Twenty-eight studies reported thirty-three patients affected by OD and BG, and only one study reported one patient with OD and AML, while only our patient harbored all three pathologies. The IDH R132H mutation was the only genetic alteration shared by all three pathologies and was simultaneously detected in enchondromas and brain glioma in 100% (3/3) of OD patients with BG and also in the neoplastic blood cells of the single patient hosting all three diseases. The IDH1-R132H gene mutation is the etiopathogenetic common denominator among three apparently different tumors coexisting in the same patient. The adoption of mutant-specific IDH1 inhibitor molecules could represent a potential panacea for these conditions in the era of targeted therapies. Further studies with larger clinical series are needed to confirm our results and hypothesis. [ABSTRACT FROM AUTHOR]

Published
2024
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15. Sporadic spinal psammomatous malignant melanotic nerve sheath tumor: A case report and literature review

Author

Bonomo, Giulio, primary, Gans, Alessandro, additional, Mazzapicchi, Elio, additional, Rubiu, Emanuele, additional, Alimonti, Paolo, additional, Eoli, Marica, additional, Paterra, Rosina, additional, Pollo, Bianca, additional, Iess, Guglielmo, additional, Restelli, Francesco, additional, Falco, Jacopo, additional, Acerbi, Francesco, additional, Schiariti, Marco Paolo, additional, Ferroli, Paolo, additional, and Broggi, Morgan, additional

Published
2023
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16. Are Thalamic Intrinsic Lesions Operable? No-Man’s Land Revisited by the Analysis of a Large Retrospective, Mono-Institutional, Cohort

Author

Ferroli, Paolo, primary, Restelli, Francesco, additional, Bertolini, Giacomo, additional, Monti, Emanuele, additional, Falco, Jacopo, additional, Bonomo, Giulio, additional, Tramacere, Irene, additional, Pollo, Bianca, additional, Calatozzolo, Chiara, additional, Patanè, Monica, additional, Schiavolin, Silvia, additional, Broggi, Morgan, additional, Acerbi, Francesco, additional, Erbetta, Alessandra, additional, Esposito, Silvia, additional, Mazzapicchi, Elio, additional, La Corte, Emanuele, additional, Vetrano, Ignazio Gaspare, additional, Broggi, Giovanni, additional, and Schiariti, Marco, additional

Published
2023
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19. Small spheno-ethmoidal meningoencephalocele versus ethmoidal mucocele in spontaneous intracranial hypotension

Author

Bonomo, Giulio, primary, Bussone, Gennaro, additional, Gans, Alessandro, additional, Iess, Guglielmo, additional, Bonomo, Roberta, additional, Restelli, Francesco, additional, Falco, Jacopo, additional, Mazzapicchi, Elio, additional, Stanziano, Mario, additional, Amato, Alessia, additional, Broggi, Morgan, additional, Acerbi, Francesco, additional, Ferroli, Paolo, additional, and Schiariti, Marco, additional

Published
2023
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22. The Role of Bypass Surgery for the Management of Complex Intracranial Aneurysms in the Anterior Circulation in the Flow-Diverter Era: A Single-Center Series.

Author

Acerbi, Francesco, primary, Mazzapicchi, Elio, additional, Falco, Jacopo, additional, Vetrano, Ignazio G., additional, Restelli, Francesco, additional, Faragò, Giuseppe, additional, LaCorte, Emanuele, additional, Bonomo, Giulio, additional, Bersano, Anna, additional, Canavero, Isabella, additional, Gemma, Marco, additional, Broggi, Morgan, additional, Schiariti, Marco, additional, Ziliani, Vanessa, additional, Raccuia, Gabriella, additional, Mangiafico, Salvatore, additional, Ganci, Giuseppe, additional, Ciceri, Elisa, additional, and Ferroli, Paolo, additional

Published
2023
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24. Towards an Established Intraoperative Oncological Favorable Tool: Results of Fluorescein-Guided Resection from a Monocentric, Prospective Series of 93 Primary Glioblastoma Patients

Author

Falco, Jacopo, primary, Rubiu, Emanuele, additional, Broggi, Morgan, additional, Farinotti, Mariangela, additional, Vetrano, Ignazio G., additional, Schiariti, Marco, additional, Anghileri, Elena, additional, Eoli, Marica, additional, Pollo, Bianca, additional, Moscatelli, Marco, additional, Restelli, Francesco, additional, Mazzapicchi, Elio, additional, La Corte, Emanuele, additional, Bonomo, Giulio, additional, Gemma, Marco, additional, Broggi, Giovanni, additional, Ferroli, Paolo, additional, and Acerbi, Francesco, additional

Published
2022
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25. Diagnostic and surgical management of primary central nervous system angioleiomyoma: A case report and literature review

Author

Rubiu, Emanuele, primary, La Corte, Emanuele, additional, Bonomo, Giulio, additional, Restelli, Francesco, additional, Falco, Jacopo, additional, Mazzapicchi, Elio, additional, Broggi, Morgan, additional, Schiariti, Marco Paolo, additional, Pollo, Bianca, additional, Pinzi, Valentina, additional, Bruzzone, Maria Grazia, additional, Di Meco, Francesco, additional, Acerbi, Francesco, additional, and Ferroli, Paolo, additional

Published
2022
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27. The Role of Bypass Surgery for the Management of Complex Intracranial Aneurysms in the Anterior Circulation in the Flow-Diverter Era: A Single-Center Series

Author

Acerbi, Francesco, primary, Mazzapicchi, Elio, additional, Falco, Jacopo, additional, Vetrano, Ignazio Gaspare, additional, Restelli, Francesco, additional, Faragò, Giuseppe, additional, La Corte, Emanuele, additional, Bonomo, Giulio, additional, Bersano, Anna, additional, Canavero, Isabella, additional, Gemma, Marco, additional, Broggi, Morgan, additional, Schiariti, Marco, additional, Ziliani, Vanessa, additional, Raccuia, Gabriella, additional, Mangiafico, Salvatore, additional, Ganci, Giuseppe, additional, Ciceri, Elisa, additional, and Ferroli, Paolo, additional

Published
2022
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29. A new study protocol for in vivo assessment of tumor diagnosis and microscopic tumor infiltration at the resection cavity in Central Nervous System tumors by a new miniature confocal endomicroscope (CONVIVO system)

Author

RESTELLI, Francesco, primary, MAZZAPICCHI, Elio, additional, POLLO, Bianca, additional, FALCO, Jacopo, additional, BONOMO, Giulio, additional, LA CORTE, Emanuele, additional, BROGGI, Morgan, additional, SCHIARITI, Marco, additional, DI MECO, Francesco, additional, FERROLI, Paolo, additional, TRAMACERE, Irene, additional, and ACERBI, Francesco, additional

Published
2022
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30. MER and increased operative time are not risk factors for the formation of pneumocephalus during DBS.

Author

Iess, Guglielmo, Bonomo, Giulio, Levi, Vincenzo, Aquino, Domenico, Zekaj, Edvin, Mezza, Federica, and Servello, Domenico

Subjects
*PNEUMOCEPHALUS, *DEEP brain stimulation, *MANN Whitney U Test, *NEUROLOGICAL disorders, *ARACHNOID cysts
Abstract

Although only recently directional leads have proven their potential to compensate for sub-optimally placed electrodes, optimal lead positioning remains the most critical factor in determining Deep Brain Stimulation (DBS) outcome. Pneumocephalus is a recognized source of error, but the factors that contribute to its formation are still a matter of debate. Among these, operative time is one of the most controversial. Because cases of DBS performed with Microelectrode Recordings (MER) are affected by an increase in surgical length, it is useful to analyze whether MER places patients at risk for increased intracranial air entry. Data of 94 patients from two different institutes who underwent DBS for different neurologic and psychiatric conditions were analyzed for the presence of postoperative pneumocephalus. Operative time and use of MER, as well as other potential risk factors for pneumocephalus (age, awake vs. asleep surgery, number of MER passages, burr hole size, target and unilateral vs. bilateral implants) were examined. Mann-Whitney U and Kruskal-Wallis tests were utilized to compare intracranial air distributions across groups of categorical variables. Partial correlations were used to assess the association between time and volume. A generalized linear model was created to predict the effects of time and MER on the volume of intracranial air, controlling for other potential risk factors identified: age, number of MER passages, awake vs. asleep surgery, burr hole size, target, unilateral vs. bilateral surgery. Significantly different distributions of air volume were noted between different targets, unilateral vs. bilateral implants, and number of MER trajectories. Patients undergoing DBS with MER did not present a significant increase in pneumocephalus compared to patients operated without (p = 0.067). No significant correlation was found between pneumocephalus and time. Using multivariate analysis, unilateral implants exhibited lower volumes of pneumocephalus (p = 0.002). Two specific targets exhibited significantly different volumes of pneumocephalus: the bed nucleus of the stria terminalis with lower volumes (p < 0.001) and the posterior hypothalamus with higher volumes (p = 0.011). MER, time, and other parameters analyzed failed to reach statistical significance. Operative time and use of intraoperative MER are not significant predictors of pneumocephalus during DBS. Air entry is greater for bilateral surgeries and may be also influenced by the specific stimulated target. [ABSTRACT FROM AUTHOR]

Published
2023
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32. Fluorescein-guided surgery for the resection of pilocytic astrocytomas: A multicentric retrospective study

Author

Falco, Jacopo, primary, Höhne, Julius, additional, Broggi, Morgan, additional, Rubiu, Emanuele, additional, Restelli, Francesco, additional, Vetrano, Ignazio G., additional, Schiariti, Marco, additional, Mazzapicchi, Elio, additional, Bonomo, Giulio, additional, Ferroli, Paolo, additional, Schebesch, Karl-Michael, additional, and Acerbi, Francesco, additional

Published
2022
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33. Occipital Intradiploic Pseudomeningocele: a rare complication of pediatric posterior cranial fossa surgery. Case Report and Review of the Literature

Author

Bonomo, G, Rubiu, E, Iess, G, Bonomo, R, Amato, A, Restelli, F, Falco, J, Mazzapicchi, E, Locatelli, M, Rampini, P, Carrabba, G, Bonomo, Giulio, Rubiu, Emanuele, Iess, Guglielmo, Bonomo, Roberta, Amato, Alessia, Restelli, Francesco, Falco, Jacopo, Mazzapicchi, Elio, Locatelli, Marco, Rampini, Paolo, Carrabba, Giorgio G, Bonomo, G, Rubiu, E, Iess, G, Bonomo, R, Amato, A, Restelli, F, Falco, J, Mazzapicchi, E, Locatelli, M, Rampini, P, Carrabba, G, Bonomo, Giulio, Rubiu, Emanuele, Iess, Guglielmo, Bonomo, Roberta, Amato, Alessia, Restelli, Francesco, Falco, Jacopo, Mazzapicchi, Elio, Locatelli, Marco, Rampini, Paolo, and Carrabba, Giorgio G

Abstract

Introduction: Intradiploic pseudomeningoceles, also called intradiploic cerebrospinal fluid (CSF) fistulas, are abnormal CSF collection between the two bony tables of the calvaria resulting from post-surgical CSF leakage. To date, only six cases of intradiploic pseudomeningocele have been reported, all occurring in the occipital area. In this paper, we report the seventh case of late-onset occipital intradiploic pseudomeningocele (OIP) occurring in a young female patient who underwent surgery for the removal of a cerebellar pilocytic astrocytoma. At this regard, we also review the literature on the few recognized cases of OIP. Case presentation: The case of an 18-year-old female patient known to our institute for an operation 12 years earlier to remove a pilocytic astrocytoma is illustrated. At admission the patient complained only of occasional orthostatic headache. Brain imaging demonstrated a pseudomeningocele extended intradiploically from the occipital squama to the condylar and clivus regions, thinning both occipital bone tables and dilating the CSF-filled diploe. Watertight duroplasty and cranioplasty were effectively performed. Conclusion: Pediatric patients undergoing posterior cranial fossa craniotomy/craniectomy may postoperatively develop OIP. In this setting, treatment of any dural CSF fistula should be considered because of the risk of progressive extension and bone erosion.

Published
2022

34. Diagnostic approach, therapeutic strategies, and surgical indications in intradural thoracic disc herniation associated with CSF leak, intracranial hypotension, and CNS superficial siderosis

Author

Bonomo, G, Cusin, A, Rubiu, E, Iess, G, Bonomo, R, Boncoraglio, G, Stanziano, M, Ferroli, P, Bonomo, Giulio, Cusin, Alberto, Rubiu, Emanuele, Iess, Guglielmo, Bonomo, Roberta, Boncoraglio, Giorgio Battista, Stanziano, Mario, Ferroli, Paolo, Bonomo, G, Cusin, A, Rubiu, E, Iess, G, Bonomo, R, Boncoraglio, G, Stanziano, M, Ferroli, P, Bonomo, Giulio, Cusin, Alberto, Rubiu, Emanuele, Iess, Guglielmo, Bonomo, Roberta, Boncoraglio, Giorgio Battista, Stanziano, Mario, and Ferroli, Paolo

Abstract

Background and purpose: Intradural disc herniation (IDH) can manifest with radicular or medullary syndrome. In about 15% of cases, IDH may be responsible, through a dural laceration, for a CSF leak, determining spontaneous intracranial hypotension (SIH) and CNS superficial siderosis (CNSss). This paper attempts to present an overview on IDH as the cause for both CSF leak, and subsequent SIH, and CNSss, and to describe a peculiar clinical and neuroradiological scenario related to this condition. Methods: A search on the PUBMED database was performed. Although the investigation did not rigorously follow the criteria for a systematic review (we consider only articles about thoracic IDH), nonetheless, the best quality evidence was pursued. Furthermore, an illustrative case was presented. Results: A 69-year-old woman was referred to our hospital for slowly progressive gait disturbances and hearing impairment. Brain imaging revealed diffuse bilateral supratentorial and infratentorial superficial siderosis, mostly of the cerebellum, the eighth cranial nerves, and the brainstem. Spinal imaging disclosed a posterior disc herniation determining a dural tear at D6-D7. Lumbar puncture revealed low opening pressure and hemorrhagic CSF with siderophages. A posterior transdural herniectomy and dural sealing determined a stabilization of hearing and a significant improvement in both gait and balance. Conclusions: The diagnostic workup of CNSss with suspected CNS leak demands whole neuraxis imaging, especially in cases presenting SIH or myelopathic symptoms. This may avoid delays in detection of IDH and spinal dural leaks. The different forms of treatment available depend on the type and severity of the clinical picture.

Published
2022

38. Occipital Intradiploic Pseudomeningocele – A Rare Complication of Pediatric Posterior Cranial Fossa Surgery: Case Report and Review of the Literature

Author

Bonomo, Giulio, primary, Rubiu, Emanuele, additional, Iess, Guglielmo, additional, Bonomo, Roberta, additional, Amato, Alessia, additional, Restelli, Francesco, additional, Falco, Jacopo, additional, Mazzapicchi, Elio, additional, Locatelli, Marco, additional, Rampini, Paolo, additional, and Carrabba, Giorgio G., additional

Published
2022
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40. Towards an Established Intraoperative Oncological Favorable Tool: Results of Fluorescein-Guided Resection from a Monocentric, Prospective Series of 93 Primary Glioblastoma Patients.

Author

Falco, Jacopo, Rubiu, Emanuele, Broggi, Morgan, Farinotti, Mariangela, Vetrano, Ignazio G., Schiariti, Marco, Anghileri, Elena, Eoli, Marica, Pollo, Bianca, Moscatelli, Marco, Restelli, Francesco, Mazzapicchi, Elio, La Corte, Emanuele, Bonomo, Giulio, Gemma, Marco, Broggi, Giovanni, Ferroli, Paolo, and Acerbi, Francesco

Subjects
GLIOBLASTOMA multiforme, PROGRESSION-free survival, OVERALL survival, BLOOD-brain barrier
Abstract

It is commonly reported that maximizing surgical resection of contrast-enhancing regions in patients with glioblastoma improves overall survival. Efforts to achieve an improved rate of resection have included several tools: among those, the recent widespread of fluorophores. Sodium fluorescein is an unspecific, vascular dye which tends to accumulate in areas with an altered blood–brain barrier. In this retrospective analysis of patients prospectively enrolled in the FLUOCERTUM study, we aimed to assess the role of fluorescein-guided surgery on surgical radicality, survival, and morbidity. A retrospective review based on 93 consecutively and prospectively enrolled IDH wild-type glioblastoma patients (2016–2022) was performed; fluorescence characteristics, rate of resection, clinical outcome, and survival were analyzed. No side effect related to fluorescein occurred; all of the tumors presented a strong yellow-green enhancement and fluorescein was judged fundamental in distinguishing tumors from viable tissue in all cases. Gross total resection was achieved in 77 cases out of 93 patients (82.8%). After a mean follow-up time of 17.4 months (3–78 months), the median progression-free survival was 12 months, with a PFS-6 and PFS-12 of 94.2% and 50%, respectively, whereas median overall survival was estimated to be 16 months; survival at 6, 12, and 24 months was 91.8%, 72.3%, and 30.1%, respectively. Based on these results, we can assert that the fluorescein-guided technique is a safe and valuable method for patients harboring a newly diagnosed, untreated glioblastoma. [ABSTRACT FROM AUTHOR]

Published
2023
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42. Deep brain stimulation in Huntington's disease

Author

Bonomo, R, Elia, A, Bonomo, G, Romito, L, Mariotti, C, Devigili, G, Cilia, R, Giossi, R, Eleopra, R, Bonomo, Roberta, Elia, Antonio, Bonomo, Giulio, Romito, Luigi, Mariotti, Caterina, Devigili, Grazia, Cilia, Roberto, Giossi, Riccardo, Eleopra, Roberto, Bonomo, R, Elia, A, Bonomo, G, Romito, L, Mariotti, C, Devigili, G, Cilia, R, Giossi, R, Eleopra, R, Bonomo, Roberta, Elia, Antonio, Bonomo, Giulio, Romito, Luigi, Mariotti, Caterina, Devigili, Grazia, Cilia, Roberto, Giossi, Riccardo, and Eleopra, Roberto

Published
2021

43. Deep brain stimulation in Huntington’s disease: a literature review

Author

Bonomo, R, Elia, A, Bonomo, G, Romito, L, Mariotti, C, Devigili, G, Cilia, R, Giossi, R, Eleopra, R, Bonomo, Roberta, Elia, Antonio E., Bonomo, Giulio, Romito, Luigi M., Mariotti, Caterina, Devigili, Grazia, Cilia, Roberto, Giossi, Riccardo, Eleopra, Roberto, Bonomo, R, Elia, A, Bonomo, G, Romito, L, Mariotti, C, Devigili, G, Cilia, R, Giossi, R, Eleopra, R, Bonomo, Roberta, Elia, Antonio E., Bonomo, Giulio, Romito, Luigi M., Mariotti, Caterina, Devigili, Grazia, Cilia, Roberto, Giossi, Riccardo, and Eleopra, Roberto

Abstract

Background: Huntington’s disease (HD) is a neurodegenerative disorder characterized by involuntary movements, cognitive decline, and behavioral changes. The complex constellation of clinical symptoms still makes the therapeutic management challenging. In the new era of functional neurosurgery, deep brain stimulation (DBS) may represent a promising therapeutic approach in selected HD patients. Methods: Articles describing the effect of DBS in patients affected by HD were selected from Medline and PubMed by the association of text words with MeSH terms as follows: “Deep brain stimulation,” “DBS,” and “HD,” “Huntington’s disease,” and “Huntington.” Details on repeat expansion, age at operation, target of operation, duration of follow-up, stimulation parameters, adverse events, and outcome measures were collected. Results: Twenty eligible studies, assessing 42 patients with HD, were identified. The effect of globus pallidus internus (GPi) DBS on Unified Huntington’s Disease Rating Scale (UHDRS) total score revealed in 10 studies an improvement of total score from 5.4 to 34.5%, and in 4 studies, an increase of motor score from 3.8 to 97.8%. Bilateral GPi-DBS was reported to be effective in reducing Chorea subscore in all studies, with a mean percentage reduction from 21.4 to 73.6%. Conclusions: HD patients with predominant choreic symptoms may be the best candidates for surgery, but the role of other clinical features and of disease progression should be elucidated. For this reason, there is a need for more reliable criteria that may guide the selection of HD patients suitable for DBS. Accordingly, further studies including functional outcomes as primary endpoints are needed.

Published
2021

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