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1.
Cureus ; 16(4): e58697, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38779293

RESUMEN

Neurofibromatosis type 1 (NF1) is an autosomal dominant syndrome caused by germline alteration of the NF1gene. Among various NF1-related manifestations, obstructive hydrocephalus especially in adult NF1 cases is less frequently found. We report two adult NF1 cases exhibiting obstructive hydrocephalus due to an aggressive posterior fossa tumor exhibiting pathological characteristics of pilocytic astrocytoma as NF1-related manifestations. In these two cases, we performed endoscopic third ventriculostomy (ETV) and tumor biopsy as an initial treatment. The initial pathological diagnosis of the tumor is conventional pilocytic astrocytoma. After biopsy both cases revealed rapid tumor growth, therefore, we performed tumor removal, chemotherapy, and radiation therapy during an aggressive clinical course. However, both cases revealed dismal prognosis due to the progression of the tumor in spite of successful management of hydrocephalus by an initial ETV. DNA methylation analysis revealed that the tumor of one case matched high-grade astrocytoma with piloid features (HGAP). Most central nervous system tumors developed in NF1 are less aggressive such as pilocytic astrocytoma; however, recently a few studies revealed that HGAP, which has been a newly introduced malignant tumor in the World Health Organization Classification of Tumors of the Central Nervous System, 5th edition (WHO CNS 5), rarely develops in NF1 cases. These findings suggested that HGAP might be one of the important causes of obstructive hydrocephalus in adult NF1 cases.

2.
World Neurosurg ; 2024 Apr 25.
Artículo en Inglés | MEDLINE | ID: mdl-38677649

RESUMEN

OBJECTIVE: Transient neurological deficits (TNDs) are known to develop after direct bypass for Moyamoya disease and may be risk factors for subsequent stroke. However, the factors involved in the development of TNDs and stroke after indirect revascularization alone, including their association with subsequent stroke, remain unclear. The purpose of this study was to investigate this issue. METHODS: The subjects of the study were 30 patients with Moyamoya disease who underwent a total of 40 indirect revascularization procedures at our institution. Clinical and radiological data were collected retrospectively. To examine factors associated with the development of postoperative TND/stroke/asymptomatic disease, the clinical characteristics of each group were statistically compared. RESULTS: The mean age at surgery was 7 years (range 1-63). TNDs developed after surgery in 9 out of 40 patients (22.5%). Stroke in the acute postoperative period occurred in 3 patients (7.5%), all of whom experienced cerebral infarctions. Demographic data and preoperative clinical information were not different between the groups. However, posterior cerebral artery involvement on preoperative imaging was significantly associated with the development of TNDs and stroke (P = 0.006). Furthermore, postoperative stroke was associated with unfavorable outcomes (P = 0.025). CONCLUSIONS: Posterior cerebral artery involvement is significantly associated with the occurrence of TNDs. In contrast, TNDs after indirect revascularization have little relationship with the subsequent development of stroke. TNDs usually resolve without new strokes, and a better understanding of this particular pathology could help establish an optimal treatment regimen.

3.
Acta Neuropathol Commun ; 12(1): 57, 2024 Apr 11.
Artículo en Inglés | MEDLINE | ID: mdl-38605367

RESUMEN

Li-Fraumeni syndrome (LFS) is an autosomal dominant tumor predisposition syndrome caused by heterozygous germline mutations or deletions in the TP53 tumor suppressor gene. Central nervous system tumors, such as choroid plexus tumors, medulloblastomas, and diffuse gliomas, are frequently found in patients with LFS. Although molecular profiles of diffuse gliomas that develop in pediatric patients with LFS have been elucidated, those in adults are limited. Recently, diffuse gliomas have been divided into pediatric- and adult-type gliomas, based on their distinct molecular profiles. In the present study, we investigated the molecular profiles of high-grade gliomas in three adults with LFS. These tumors revealed characteristic histopathological findings of high-grade glioma or glioblastoma and harbored wild-type IDH1/2 according to whole exome sequencing (WES). However, these tumors did not exhibit the key molecular alterations of glioblastoma, IDH-wildtype such as TERT promoter mutation, EGFR amplification, or chromosome 7 gain and 10 loss. Although WES revealed no other characteristic gene mutations or copy number alterations in high-grade gliomas, such as those in histone H3 genes, PDGFRA amplification was found in all three cases together with uniparental disomy of chromosome 17p, where the TP53 gene is located. DNA methylation analyses revealed that all tumors exhibited DNA methylation profiles similar to those of pediatric-type high-grade glioma H3-wildtype and IDH-wildtype (pHGG H3-/IDH-wt), RTK1 subtype. These data suggest that high-grade gliomas developed in adult patients with LFS may be involved in pHGG H3-/IDH-wt. PDGFRA and homozygous alterations in TP53 may play pivotal roles in the development of this type of glioma in adult patients with LFS.


Asunto(s)
Neoplasias Encefálicas , Glioma , Síndrome de Li-Fraumeni , Adulto , Humanos , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patología , Genes p53 , Glioblastoma/genética , Glioblastoma/patología , Glioma/genética , Glioma/patología , Isocitrato Deshidrogenasa/genética , Síndrome de Li-Fraumeni/genética , Mutación/genética
4.
Childs Nerv Syst ; 2024 Apr 22.
Artículo en Inglés | MEDLINE | ID: mdl-38644385

RESUMEN

BACKGROUND: Periventricular pediatric low-grade gliomas (pLGG) present a surgical challenge due to their deep-seated location, accessibility, and relationship with the subcortical network connections. Minimally invasive parafascicular approaches with tubular brain retractors (port brain surgery) have emerged, in recent years, as an alternative to conventional microsurgical and endoscopic approaches for removal of periventricular tumors. OBJECTIVES: To describe the minimally invasive approach with tubular brain retractors for periventricular pLGG, its technique, applications, safety, and efficacy. METHODS: In this article, we describe the port brain surgery techniques for periventricular pLGG as performed in different centers, with different commercialized tubular retractor systems. Illustrative cases followed by a literature review are analyzed, with a detailed description of different approaches or techniques, comparing their advantages and disadvantages with contemporary microsurgical and endoscopic approaches. CONCLUSIONS: The port brain surgery with micro-exoscopic vision and endoscopic assistance, for the treatment of deep-seated lesions such as periventricular pLGG, is an alternative for achieving a functionally safe-gross total or subtotal-tumor resection, obtaining adequate tissue for pathological examination. This technique could offer a new dimension for a less-invasive, safe, and effective access to deep-seated tumors, offering the possibility to lower morbidity in experienced hands.

5.
Cureus ; 16(1): e51850, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38327935

RESUMEN

The surgical treatment of retroinfundibular craniopharyngiomas is challenging due to their location and the surrounding neurovascular structures. In this report, the transdorsum sellar approach with posterior clinoidectomy, the efficacy of direct cyst puncture, and the suitability of a two-piece dural opening are presented. A 56-year-old male with visual and cognitive disturbances was referred to our hospital. Preoperative CT and MRI demonstrated a mostly cystic lesion with calcifications in the suprasellar and retroinfundibular areas. The imaging findings were suspected craniopharyngioma, and an extended endoscopic endonasal transdorsum sellar approach with posterior clinoidectomy was performed for direct access to the lesion. Two pieces of the dura were opened to prevent postoperative CSF leakage. The patient's postoperative course was uneventful. The endoscopic transdorsum sellar approach gives direct access to the posterior cranial fossa. A direct puncture of the cyst without CSF drainage is helpful for large cystic lesions. A two-piece dural opening is easy to suture and can reduce the chance of postoperative CSF leakage.

6.
J Neurosurg ; 140(2): 469-477, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-37542441

RESUMEN

OBJECTIVE: Surgical treatment of brainstem cavernous malformations (CMs) is challenging. Surgery using the endoscopic transsphenoidal transclival approach (eTSTCA) is reported as a useful alternative for ventral brainstem CMs. However, CMs located in the ventral midline of the brainstem are rare, and only a small number of case reports on these CMs treated with the eTSTCA exist. The efficacy and safety of the eTSTCA have not yet been fully examined. METHODS: A retrospective analysis was performed for 5 consecutive patients who underwent surgery via the eTSTCA for treating ventral pontine CMs. RESULTS: The average maximum CM diameter was 26.0 mm (18-38 mm). All patients underwent MR-diffusion tensor imaging, which confirmed that the corticospinal tract (CST) deviated posteriorly or laterally to the CM. Direct brainstem cortical stimulation was performed to localize the CST before making the cortical incision. After the excision of the CM, the cavity was filled with artificial CSF to make an aqueous surgical field (wet-field technique) for observing the tumor cavity and confirming complete hemostasis and resection. Total removal was achieved in all patients. The preoperative modified Rankin Scale score was 3 in 3 patients and 4 in 2 patients, whereas it was 1 in 2 patients and 0 in 3 patients 3 months after surgery. Postoperative CSF leakage was observed in 1 patient, and transient abducens nerve palsy was observed in 1 patient. No other intra- or postoperative complications were observed. CONCLUSIONS: MR-diffusion tensor imaging and direct brainstem cortical stimulation were useful to ascertain the proximity of the CST to the CM. The endoscope provides a clear view even underwater, and it was safe and effective to observe the entire CM cavity and confirm complete hemostasis without additional retraction of the brainstem parenchyma, including the CST. The eTSTCA provides a direct access point to the lesion and may be a safer alternative treatment for patients whose CST deviates laterally or posteriorly to the CM.


Asunto(s)
Imagen de Difusión Tensora , Puente , Humanos , Imagen de Difusión Tensora/métodos , Estudios Retrospectivos , Puente/cirugía , Endoscopía , Tronco Encefálico/diagnóstico por imagen , Tronco Encefálico/cirugía , Tronco Encefálico/patología , Complicaciones Posoperatorias/patología
7.
Neurosurg Rev ; 46(1): 291, 2023 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-37910280

RESUMEN

Accurate tumor identification during surgical excision is necessary for neurosurgeons to determine the extent of resection without damaging the surrounding tissues. No conventional technologies have achieved reliable performance for pituitary adenomas. This study proposes a deep learning approach using intraoperative endoscopic images to discriminate pituitary adenomas from non-tumorous tissue inside the sella turcica. Static images were extracted from 50 intraoperative videos of patients with pituitary adenomas. All patients underwent endoscopic transsphenoidal surgery with a 4 K ultrahigh-definition endoscope. The tumor and non-tumorous tissue within the sella turcica were delineated on static images. Using intraoperative images, we developed and validated deep learning models to identify tumorous tissue. Model performance was evaluated using a fivefold per-patient methodology. As a proof-of-concept, the model's predictions were pathologically cross-referenced with a medical professional's diagnosis using the intraoperative images of a prospectively enrolled patient. In total, 605 static images were obtained. Among the cropped 117,223 patches, 58,088 were labeled as tumors, while the remaining 59,135 were labeled as non-tumorous tissues. The evaluation of the image dataset revealed that the wide-ResNet model had the highest accuracy of 0.768, with an F1 score of 0.766. A preliminary evaluation on one patient indicated alignment between the ground truth set by neurosurgeons, the model's predictions, and histopathological findings. Our deep learning algorithm has a positive tumor discrimination performance in intraoperative 4-K endoscopic images in patients with pituitary adenomas.


Asunto(s)
Adenoma , Aprendizaje Profundo , Neoplasias Hipofisarias , Humanos , Neoplasias Hipofisarias/diagnóstico por imagen , Neoplasias Hipofisarias/cirugía , Proyectos Piloto , Adenoma/diagnóstico por imagen , Adenoma/cirugía , Adenoma/patología , Endoscopía/métodos , Resultado del Tratamiento , Estudios Retrospectivos
8.
NMC Case Rep J ; 10: 163-168, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37398917

RESUMEN

A 61-year-old man presented with massive epistaxis, amaurosis, nausea, and severe headache. A detailed examination revealed a subarachnoid hemorrhage and prolactinoma. Angiography showed a small internal carotid artery pseudoaneurysm and inadequate collateral circulation; thus, uncomplicated coil embolization was performed. Considering the side effects of medication, such as cerebrospinal fluid rhinorrhea, the patient was followed up for asymptomatic prolactinoma without medication after discharge. At 40 months later, aneurysm recurrence was confirmed. Flow diverter device placement was performed, and the outcomes were excellent. In the present report, we described a rare case of a ruptured internal carotid artery aneurysm in an untreated prolactinoma and discussed the literature.

9.
No Shinkei Geka ; 51(4): 697-705, 2023 Jul.
Artículo en Japonés | MEDLINE | ID: mdl-37491067

RESUMEN

Endocrine deficiency can occur after the surgical treatment of parasellar lesions. In particular, management of the fluid-electrolyte balance is important, without which serious neurologic complications can occur. Delayed massive epistaxis can occur after transnasal surgery. Its thorough understanding is required for adequate treatment. The first part of this article focuses on the postoperative management and prevention of life-threatening complications. Postoperative spinal fluid leakage is the biggest concern in transnasal skull base surgery. To avoid it, various methods of skull-base reconstruction have been reported, the basic principle of which is a multilayered reconstruction. Each layer plays its own role, and understanding these roles enables a safe and effective reconstruction. In Japan, suture-based skull-base reconstruction is widely used, but suturing the dura in the deep surgical field is considered to be time-consuming and complicated. The second part of the article describes the various reported reconstruction methods, characteristics of the reconstruction materials, and some simple dural suture techniques.


Asunto(s)
Procedimientos de Cirugía Plástica , Complicaciones Posoperatorias , Humanos , Complicaciones Posoperatorias/prevención & control , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/cirugía , Pérdida de Líquido Cefalorraquídeo/prevención & control , Pérdida de Líquido Cefalorraquídeo/cirugía , Pérdida de Líquido Cefalorraquídeo/etiología , Base del Cráneo/cirugía , Procedimientos Neuroquirúrgicos/efectos adversos , Procedimientos Neuroquirúrgicos/métodos , Estudios Retrospectivos
10.
Childs Nerv Syst ; 39(12): 3421-3425, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37365300

RESUMEN

Optic pathway gliomas (OPGs) are benign tumors that can stop growing or even shrink. In recent years, surgical resection has not been considered the first-line treatment because of its high risk of complications. Chemotherapy is the mainstay of treatment for growing OPGs. Surgical treatment for OPGs with obstructive hydrocephalus is required. Ventriculoperitoneal shunting is effective for all types of hydrocephalus. However, long-term management is required, especially in pediatric cases, and there is a risk of shunt-related complications over a long lifespan. Debulking surgery for OPGs allows us to avoid shunt placement by creating a waterway and releasing the hydrocephalus. To reduce the surgical risk and invasiveness, we used an endoscopic canalization technique with a small-diameter cylinder. In this article, we present a case of endoscopic canalization of an obstructive hydrocephalus caused by OPGs in a 14-year-old female to illustrate our surgical technique.(Trial registration Registry name and number: Efficacy and safety of the neuro-endoscopic treatment for brain tumors (2019-0254)).


Asunto(s)
Neoplasias Encefálicas , Hidrocefalia , Glioma del Nervio Óptico , Adolescente , Femenino , Humanos , Neoplasias Encefálicas/cirugía , Procedimientos Quirúrgicos de Citorreducción/efectos adversos , Hidrocefalia/diagnóstico por imagen , Hidrocefalia/etiología , Hidrocefalia/cirugía , Glioma del Nervio Óptico/complicaciones , Estudios Retrospectivos , Resultado del Tratamiento , Derivación Ventriculoperitoneal/efectos adversos
11.
Cancer Sci ; 114(6): 2544-2551, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-36859777

RESUMEN

The myeloid differentiation primary response gene 88 (MYD88) L265P mutation is a disease-specific mutation of primary central nervous system lymphoma (PCNSL) among the central nervous system tumors. Accordingly, this mutation is considered a reliable diagnostic molecular marker of PCNSL. As the intra-operative diagnosis of PCNSL is sometimes difficult to achieve using histological examinations alone, intra-operative detection of the MYD88 L265P mutation could be effective for the accurate diagnosis of PCNSL. Herein, we aimed to develop a novel rapid genotyping system (GeneSoC) using real-time polymerase chain reaction (PCR) based on microfluidic thermal cycling technology. This real-time PCR system shortened the analysis time, which enabled the detection of the MYD88 L265P mutation within 15 min. Rapid detection of the MYD88 L265P mutation was performed intra-operatively using GeneSoC in 24 consecutive cases with suspected malignant brain tumors, including 10 cases with suspected PCNSL before surgery. The MYD88 L265P mutation was detected in eight cases in which tumors were pathologically diagnosed as PCNSL after the operation, while wild-type MYD88 was detected in 16 cases. Although two of the 16 cases with wild-type MYD88 were pathologically diagnosed as PCNSL after the operation, MYD88 L265P could be detected in all eight PCNSL cases harboring MYD88 L265P. The MYD88 L265P mutation could also be detected using cell-free DNA derived from the cerebrospinal fluid of two PCNSL cases. Detection of the MYD88 L265P mutation using GeneSoC might not only improve the accuracy of intra-operative diagnosis of PCNSL but also help the future pre-operative diagnosis through liquid biopsy of cerebrospinal fluid.


Asunto(s)
Neoplasias del Sistema Nervioso Central , Linfoma , Humanos , Factor 88 de Diferenciación Mieloide/genética , Factor 88 de Diferenciación Mieloide/metabolismo , Mutación , Neoplasias del Sistema Nervioso Central/diagnóstico , Neoplasias del Sistema Nervioso Central/genética , Sistema Nervioso Central , Linfoma/diagnóstico , Linfoma/genética
12.
Front Endocrinol (Lausanne) ; 14: 1130465, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36936140

RESUMEN

Introduction: The pituitary gland, regulating various hormones, is central in the endocrine system. As spontaneous recovery from hypopituitarism is rare, and exogenous-hormone substitution is clumsy, pituitary replacement via regenerative medicine, using pluripotent stem cells, is desirable. We have developed a differentiation method that in mice yields pituitary organoids (POs) derived from human embryonic stem cells (hESC). Efficacy of these POs, transplanted subcutaneously into hypopituitary mice, in reversing hypopituitarism was studied. Methods: hESC-derived POs were transplanted into inguinal subcutaneous white adipose tissue (ISWAT) and beneath dorsal skin, a relatively avascular region (AR), of hypophysectomized severe combined immunodeficient (SCID) mice. Pituitary function was evaluated thereafter for ¾ 6mo, assaying basal plasma ACTH and ACTH response to corticotropin-releasing hormone (CRH) stimulation. Histopathologic examination of organoids 150d after transplantation assessed engraftment. Some mice received an inhibitor of vascular endothelial growth factor (VEGF) to permit assessment of how angiogenesis contributed to subcutaneous engraftment. Results: During follow-up, both basal and CRH-stimulated plasma ACTH levels were significantly higher in the ISWAT group (p < 0.001 - 0.05 and 0.001 - 0.005, respectively) than in a sham-operated group. ACTH secretion also was higher in the ISWAT group than in the AR group. Histopathologic study found ACTH-producing human pituitary-cell clusters in both groups of allografts, which had acquired a microvasculature. POs qPCR showed expression of angiogenetic factors. Plasma ACTH levels decreased with VEGF-inhibitor administration. Conclusions: Subcutaneous transplantation of hESC-derived POs into hypopituitary SCID mice efficaciously renders recipients ACTH-sufficient.


Asunto(s)
Células Madre Embrionarias Humanas , Hipopituitarismo , Enfermedades de la Hipófisis , Humanos , Ratones , Animales , Células Madre Embrionarias Humanas/metabolismo , Factor A de Crecimiento Endotelial Vascular/metabolismo , Hormona Adrenocorticotrópica/metabolismo , Hormona Liberadora de Corticotropina/metabolismo , Ratones SCID , Hipófisis/metabolismo , Enfermedades de la Hipófisis/metabolismo , Hipopituitarismo/metabolismo
13.
Pituitary ; 26(2): 237-249, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36995457

RESUMEN

PURPOSE: Delayed hyponatremia (DHN), a unique complication, is the leading cause of unexpected readmission after pituitary surgery. Therefore, this study aimed to develop tools for predicting postoperative DHN in patients undergoing endoscopic transsphenoidal surgery (eTSS) for pituitary neuroendocrine tumors (PitNETs). METHODS: This was a single-center, retrospective study involving 193 patients with PitNETs who underwent eTSS. The objective variable was DHN, defined as serum sodium levels < 135 mmol/L at ≥ 1 time between post operative days 3 and 9. We trained four machine learning models to predict this objective variable using the clinical variables available preoperatively and on the first postoperative day. The clinical variables included patient characteristics, pituitary-related hormone levels, blood test results, radiological findings, and postoperative complications. RESULTS: The random forest (RF) model demonstrated the highest (0.759 ± 0.039) area under the curve of the receiver operating characteristic curve (ROC-AUC), followed by the support vector machine (0.747 ± 0.034), the light gradient boosting machine (LGBM: 0.738 ± 0.026), and the logistic regression (0.710 ± 0.028). The highest accuracy (0.746 ± 0.029) was observed in the LGBM model. The best-performing RF model was based on 24 features, nine of which were clinically available preoperatively. CONCLUSIONS: The proposed machine learning models with pre- and post-resection features predicted DHN after the resection of PitNETs.


Asunto(s)
Adenoma , Hiponatremia , Neoplasias Hipofisarias , Humanos , Hiponatremia/etiología , Estudios Retrospectivos , Adenoma/cirugía , Neoplasias Hipofisarias/cirugía , Neoplasias Hipofisarias/complicaciones , Aprendizaje Automático
14.
Acta Neurochir (Wien) ; 165(3): 667-675, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36355231

RESUMEN

PURPOSE: Postoperative pituitary dysfunction, a critical problem in the treatment of craniopharyngiomas, can occur even when the pituitary stalk is preserved. We hypothesized that compromise of the primary superior hypophyseal artery (pSHA) might be related to this occurrence. METHODS: We performed a retrospective review of 131 patients with craniopharyngioma who underwent surgery from April 2009 to September 2021. The inclusion criteria were initial surgery, endoscopic transsphenoidal surgery, preoperative normal pituitary function or pituitary dysfunction in one axis, and morphological preservation of the pituitary stalk. The branches of the pSHA consist mainly of the chiasmatic branches (Cb), infundibular branches (Ib), and descending branches (Db). We analyzed the association between postoperative pituitary function and preservation of these branches. RESULTS: Twenty patients met the criteria. Preoperative anterior pituitary function was normal in 18 patients, and there was isolated growth hormone deficiency in two patients. No patient had preoperative diabetes insipidus (DI). Anterior pituitary function was unchanged postoperatively in eight patients. Of these eight patients, bilateral preservation of pSHA Ib was confirmed in seven patients. Bilateral preservation of pSHA Ib was the only factor associated with preserved anterior pituitary function (p < 0.01). Fifteen patients were free of permanent DI, and the preservation of any given pSHA branch produced no significant difference in the postoperative occurrence of permanent DI. CONCLUSIONS: Our study shows that bilateral preservation of pSHA Ib provides favorable postoperative anterior pituitary function in craniopharyngioma surgery; however, such preservation may have little effect on the postoperative occurrence of DI.


Asunto(s)
Craneofaringioma , Diabetes Insípida , Neoplasias Hipofisarias , Humanos , Craneofaringioma/cirugía , Neoplasias Hipofisarias/cirugía , Hipófisis/cirugía , Diabetes Insípida/complicaciones , Complicaciones Posoperatorias , Arterias , Estudios Retrospectivos
15.
Cancer Med ; 12(6): 7116-7126, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36478416

RESUMEN

BACKGROUND: Rituximab, high-dose methotrexate (HD-MTX), procarbazine and vincristine (R-MPV), has significantly prolonged the survival of patients with primary central nervous system lymphoma (PCNSL), but predictive factors for response to R-MPV have not yet been investigated. Herein, we investigated the correlation of MYD88 L265P and CD79B Y196 mutations, which are the most frequently found molecular alterations in PCNSL, with prognosis of patients with PCNSL treated with R-MPV. METHODS: We investigated the long-term clinical course and status of MYD88 and CD79B genes in 85 patients with PCNSL treated with R-MPV or HD-MTX treatment, and the correlation of these genetic mutations with prognosis. RESULTS: R-MPV achieved an excellent tumor control rate (61.6% and 69.9% of 5-year progression-free and overall survival rates, respectively). While MYD88 L265P mutation had no significant effect on survival, patients with CD79B Y196 mutations exhibited prolonged survival (p < 0.05). However, the association of CD79B Y196 mutation with a better prognosis was not observed in the HD-MTX cohort, which indicated that CD79B Y196 mutation was a predictive marker for a favorable response to R-MPV. Furthermore, we established an all-in-one rapid genotyping system for these genetic mutations. CONCLUSIONS: In conclusion, CD79B Y196 mutation is a potent predictive marker for favorable response to R-MPV in PCNSL. The rapid identification of MYD88 L265P and CD79B Y196 mutations can be helpful not only for the accurate molecular diagnosis of PCNSL but also for the prediction of response to R-MPV.


Asunto(s)
Neoplasias del Sistema Nervioso Central , Linfoma de Células B Grandes Difuso , Humanos , Linfoma de Células B Grandes Difuso/tratamiento farmacológico , Factor 88 de Diferenciación Mieloide/genética , Factor 88 de Diferenciación Mieloide/metabolismo , Mutación , Rituximab/uso terapéutico , Sistema Nervioso Central/metabolismo , Sistema Nervioso Central/patología , Neoplasias del Sistema Nervioso Central/tratamiento farmacológico , Neoplasias del Sistema Nervioso Central/genética , Metotrexato/uso terapéutico , Antígenos CD79/genética
16.
Surg Neurol Int ; 13: 511, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36447887

RESUMEN

Background: The aim of this study was to investigate the association between early postoperative slow flow in bypass grafts and preoperative focal cerebral blood flow (CBF) in patients who underwent combined surgery for moyamoya disease (MMD). Methods: The subjects were 18 patients (22 surgeries) who underwent single photon emission computed tomography (SPECT) before surgery. The CBF value of the middle cerebral artery territory was extracted from the SPECT data, and the value relative to the ipsilateral cerebellar CBF (relative CBF, or RCBF) was calculated. The association between RCBF and early postoperative slow flow in the bypass graft was investigated. In addition, the correlation between the revascularization effect and preoperative RCBF was analyzed. Results: In four of 22 surgeries (18.2%), slow flow in the bypass graft was identified in the early postoperative period. Preoperative RCBF in the slow flow and patent groups was 0.86 ± 0.15 and 0.87 ± 0.15, respectively, with no significant difference (P = 0.72). The signal intensity of four slow-flowed bypasses was improved in all cases on magnetic resonance angiography images captured during the chronic phase (mean of 3.3 months postoperatively). The revascularization scores were 2 ± 0.82 and 2.1 ± 0.68 in the slow flow and patent groups, respectively, and did not differ significantly (P = 0.78). A significant correlation was not observed between preoperative RCBF and the revascularization effect. Conclusion: No significant association was observed between preoperative RCBF and early postoperative slow flow in bypass grafts in patients with MMD undergoing combined surgery. Given the high rate of improved depiction of slow-flowed bypass in the chronic postoperative phase, the conceptual significance of an opportune surgical intervention is to maintain CBF by supporting the patient's own intracranial-extracranial conversion function.

17.
Surg Neurol Int ; 13: 372, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36128090

RESUMEN

Background: Imaging with 18F-fluorodeoxyglucose (FDG)-positron emission tomography (PET) and 11C-methionine (MET)-PET can delineate primary and metastatic brain tumors. Lesion size affects the sensitivity of both scans and histopathological features can also influence FDG-PET, but the effects on MET-PET have not been elucidated. Case Description: We report an unusual case of metastatic brain tumors without accumulation of FDG or MET, contrasting with high FDG uptake in the primary lung lesion. The brain lesions were identified as adenocarcinoma with a more mucus-rich background, contributing to the indistinct accumulation of both FDG and MET. Conclusion: Histopathological characteristics can affect both MET and FDG accumulation, leading to findings contradicting those of the primary lesion.

18.
J Neurosurg Case Lessons ; 3(3)2022 Jan 17.
Artículo en Inglés | MEDLINE | ID: mdl-36130575

RESUMEN

BACKGROUND: Transient neurological deficits (TNDs) develop after cerebral revascularization in patients with moyamoya disease (MMD). The authors report a rare pediatric MMD case with extensive decreased cerebral blood flow (CBF) and prolonged TNDs after combined revascularization. OBSERVATIONS: A 9-year-old boy presented with transient left upper limb weakness, and MMD was diagnosed. A right-sided combined surgery was performed. Two years after the surgery, frequent but transient facial (right-sided) and upper limb weakness appeared. The left internal carotid artery terminal stenosis had progressed. Therefore, a left combined revascularization was performed. The patient's motor aphasia and right upper limb weakness persisted for approximately 10 days after surgery. Magnetic resonance angiography showed that the direct bypass was patent, but extensive decreases in left CBF were observed using single photon emission tomography. With adequate fluid therapy and blood pressure control, the neurological symptoms eventually disappeared, and CBF improved. LESSONS: The environment of cerebral hemodynamics is heterogeneous after cerebral revascularization for MMD, and the exact mechanism of CBF decreases was not identified. TNDs are significantly associated with the onset of stroke during the early postoperative period. Therefore, appropriate treatment is desired after determining complex cerebral hemodynamics using CBF studies.

19.
World Neurosurg ; 167: e1147-e1153, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-36089269

RESUMEN

OBJECTIVE: The biopsy procedure is intended to obtain an adequate specimen volume from the targeted area while ensuring minimal damage to the normal brain. We performed navigation-guided endoscopic biopsy using a small-diameter cylinder to reduce the invasiveness of the biopsy procedure and ensure a sufficient amount of tissue is collected. We examined whether it is possible to reduce brain tissue injury by using a small-diameter cylinder and improve safety and effectiveness by using an endoscope to directly observe the lesion and achieve hemostasis. METHODS: Patients who underwent endoscopic biopsy surgery using a 6-mm-diameter cylinder for intraparenchymal lesions were enrolled in this study. Postoperative hematoma formation and the extent of trajectory scarring were assessed. RESULTS: Fifty-two procedures performed on 51 patients were analyzed in this study. Postoperative neurological deterioration was not observed in any patient. A pathological diagnosis was made for all patients. Postoperative computed tomography revealed no hematoma after 49 procedures and a small hematoma after 3 procedures, and no patients required additional treatment. A postoperative trajectory scar less than 5 mm in diameter was observed after 30 procedures, a scar of 5-10 mm was observed after 19 procedures, a scar larger than 10 mm was observed after 3 procedures at 1 week after surgery, and 40, 6 and 0 scars were observed at 3 months after surgery. CONCLUSIONS: Endoscopic biopsy using a small-diameter cylinder is a possible alternative biopsy technique for intraparenchymal lesions. This surgical technique is useful, especially in patients at risk of hemorrhagic complications.


Asunto(s)
Neoplasias Encefálicas , Cicatriz , Humanos , Cicatriz/patología , Biopsia/métodos , Encéfalo/diagnóstico por imagen , Encéfalo/cirugía , Encéfalo/patología , Neoplasias Encefálicas/cirugía , Endoscopía/métodos
20.
BMC Neurol ; 22(1): 223, 2022 Jun 18.
Artículo en Inglés | MEDLINE | ID: mdl-35717180

RESUMEN

BACKGROUND: Eccrine spiradenocarcinoma (SC), also known as malignant eccrine spiradenoma, is a rare malignant cutaneous adnexal neoplasm arising from long-standing benign eccrine spiradenoma. Malignant skin tumors rarely show direct intracranial invasion. However, once the intracranial structure is infiltrated, curative excision with sufficient margins can become extremely difficult, particularly when the venous sinuses are involved. No effective adjuvant therapies have yet been established. Here, we report an extremely rare case of scalp eccrine SC with direct intracranial invasion, which does not appear to have been reported previously. CASE PRESENTATION: An 81-year-old woman presented with a large swelling on the parietal scalp 12 years after resection of spiradenoma from the same site. The tumor showed intracranial invasion with involvement of the superior sagittal sinus and repeated recurrences after four surgeries with preservation of the sinus. The histopathological diagnosis was eccrine SC. Adjuvant high-precision external beam radiotherapy (EBRT) proved effective after the third surgery, achieving remission of the residual tumor. The patient died 7 years after the first surgery for SC. CONCLUSIONS: Scalp SC with direct intracranial invasion is extremely rare. Radical resection with tumor-free margins is the mainstay of treatment, but the involvement of venous sinuses makes this unfeasible. High-precision EBRT in combination with maximal resection preserving the venous sinuses could be a treatment option for local tumor control.


Asunto(s)
Acrospiroma , Neoplasias de las Glándulas Sudoríparas , Acrospiroma/patología , Acrospiroma/cirugía , Anciano de 80 o más Años , Femenino , Humanos , Cuero Cabelludo/patología , Cuero Cabelludo/cirugía , Neoplasias de las Glándulas Sudoríparas/patología , Neoplasias de las Glándulas Sudoríparas/cirugía
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