Cranial Fasciitis in Children: Expanding the Spectrum of USP6-Associated Clonal Transient Neoplasms

2022 ◽  
pp. 109352662110639
Author(s):  
Faizan Malik ◽  
Anas Bernieh ◽  
Siraj M. El Jamal ◽  
Ali G. Saad
Keyword(s):  
Growth Pattern ◽  
Gene Rearrangement ◽  
Tumor Resection ◽  
Growth Arrest ◽  
Gene Rearrangements ◽  
Temporal Region ◽  
Total Resection ◽  
Clinical Behavior ◽  
Cranial Fasciitis ◽  
Fibroblastic Proliferation

Background: Cranial fasciitis (CF) is a benign (myo)fibroblastic proliferation of children. Typical presentation consists of a rapidly growing solitary mass on the temporal or parietal cranium in the first 2 years of age. CF is characterized by a rapid growth followed by a relative slowdown and even growth arrest. The finding of somatic USP6 gene rearrangements demonstrating clonality in CF together with its clinical behavior places it in the category of diseases recently termed “transient neoplasia.” Methods: Histological, immunohistochemical, and molecular findings of 18 patients with CF were retrospectively studied. Results: The tumor typically presented as a painless rapidly enlarging mass in the temporal region. Sixty-six percent of the cases harbored USP6 gene rearrangement. Nine patients were treated with gross total resection (GTR) and 9 with subtotal tumor resection (STR). Two patients treated with GTR had recurrence. Five patients treated with STR had progression-free disease for at least 10 months after surgery and in four patients the tumor regressed spontaneously a median 16 months after surgery. Conclusions: In this largest series to date, we reported the clinicopathological, immunohistochemical, and molecular findings of 18 pediatric cases of CF with emphasis on the clinical growth pattern of these tumors.

scholarly journals Transcavernous Approach for Gross Total Resection of a Dumbbell-Shaped Giant Trigeminal Schwannoma

2021 ◽  
Author(s):  
Sima Sayyahmelli ◽  
Emel Avci ◽  
Burak Ozaydin ◽  
Mustafa K. Başkaya
Keyword(s):  
Skull Base ◽  
Cavernous Sinus ◽  
Tumor Resection ◽  
Mass Effect ◽  
World Health ◽  
Gross Total Resection ◽  
Petrous Apex ◽  
Total Resection ◽  
Who Grade ◽  
Trigeminal Schwannoma

AbstractTrigeminal schwannomas are rare nerve sheet tumors that represent the second most common intracranial site of occurrence after vestibular nerve origins. Microsurgical resection of giant dumbbell-shaped trigeminal schwannomas often requires complex skull base approaches. The extradural transcavernous approach is effective for the resection of these giant tumors involving the cavernous sinus.The patient is a 72-year-old man with headache, dizziness, imbalance, and cognitive decline. Neurological examination revealed left-sided sixth nerve palsy, a diminished corneal reflex, and wasting of temporalis muscle. Magnetic resonance imaging (MRI) showed a giant homogeneously enhancing dumbbell-shaped extra-axial mass centered within the left cavernous sinus, Meckel's cave, and the petrous apex, with extension to the cerebellopontine angle. There was a significant mass effect on the brain stem causing hydrocephalus. Computed tomography (CT) scan showed erosion of the petrous apex resulting in partial anterior autopetrosectomy (Figs. 1 and 2).The decision was made to proceed with tumor resection using a transcavernous approach. Gross total resection was achieved. The surgery and postoperative course were uneventful, and the patient woke up the same as in the preoperative period. MRI confirmed gross total resection of the tumor. The histopathology was a trigeminal schwannoma, World Health Organization (WHO) grade I. The patient continues to do well without any recurrence at 15-month follow-up.This video demonstrates important steps of the microsurgical skull base techniques for resection of these challenging tumors.The link to the video can be found at https://youtu.be/TMK5363836M

scholarly journals Recurrent Sphenocavernous Meningioma

2021 ◽  
Author(s):  
Mizuho Inoue ◽  
Mohamed Labib ◽  
Alexander Yang ◽  
A. Samy Youssef
Keyword(s):  
Tumor Resection ◽  
Intensity Modulated Radiotherapy ◽  
Residual Tumor ◽  
World Health ◽  
Neurological Deficits ◽  
Falciform Ligament ◽  
Total Resection ◽  
Anterior Clinoid Process ◽  
Who Grade ◽  
Health Organization

AbstractA case of a recurrent sphenocavernous meningioma is presented. The patient is a 42-year-old male who presented with an episode of transient right-sided numbness. A magnetic resonance imaging (MRI) revealed a large left sphenocavernous meningioma. The patient underwent a frontotemporal craniotomy for tumor resection. Near total resection was achieved with minimal residual in the left cavernous sinus (CS) and orbital apex. The pathology was consistent with meningioma, World Health Organization (WHO) grade I. A follow-up MRI was done 9 months after surgery and showed a growth of the residual tumor, which was treated with intensity modulated radiotherapy. Tumor growth was detected on serial imaging over a 4-year period. Surgical resection was offered. A left frontotemporal craniotomy with pretemporal transcavernous approach was performed. The bone flap was reopened and the dura was opened in a Y-shaped fashion. The roof of the optic canal was drilled off, and the falciform ligament was opened to decompress the optic nerve. The tumor was disconnected from the anterior clinoid region (the anterior clinoid process was eroded by the tumor) and reflected off the wall of the lateral CS. Tumor was adherent to the V2 fascicles (the lateral CS wall was resected in the first surgery) and was sharply dissected off. Gross total resection was achieved. The pathology was consistent with meningioma, WHO grade I. The patient had an unremarkable postoperative course without any new neurological deficits.The link to the video can be found at: https://youtu.be/KVBVw_86JqM.

scholarly journals Seizure outcome in temporal glioblastoma surgery: lobectomy as a supratotal resection regime outclasses conventional gross-total resection

2021 ◽  
Author(s):  
Valeri Borger ◽  
Motaz Hamed ◽  
Inja Ilic ◽  
Anna-Laura Potthoff ◽  
Attila Racz ◽  
...  
Keyword(s):  
Tumor Resection ◽  
Temporal Lobectomy ◽  
Secondary Outcome ◽  
Seizure Outcome ◽  
Seizure Freedom ◽  
Secondary Outcome Measure ◽  
Total Resection ◽  
Class 1 ◽  
Postoperative Seizure ◽  
The Impact

Abstract Introduction The postoperative seizure freedom represents an important secondary outcome measure in glioblastoma surgery. Recently, supra-total glioblastoma resection in terms of anterior temporal lobectomy (ATL) has gained growing attention with regard to superior long-term disease control for temporal-located glioblastoma compared to conventional gross-total resections (GTR). However, the impact of ATL on seizure outcome in these patients is unknown. We therefore analyzed ATL and GTR as differing extents of resection in regard of postoperative seizure control in patients with temporal glioblastoma and preoperative symptomatic seizures. Methods Between 2012 and 2018, 33 patients with preoperative seizures underwent GTR or ATL for temporal glioblastoma at the authors’ institution. Seizure outcome was assessed postoperatively and 6 months after tumor resection according to the International League Against Epilepsy (ILAE) classification and stratified into favorable (ILAE class 1) versus unfavorable (ILAE class 2–6). Results Overall, 23 out of 33 patients (70%) with preoperative seizures achieved favorable seizure outcome following resection of temporal located glioblastoma. For the ATL group, postoperative seizure freedom was present in 13 out of 13 patients (100%). In comparison, respective rates for the GTR group were 10 out of 20 patients (50%) (p = 0.002; OR 27; 95% CI 1.4–515.9). Conclusions ATL in terms of a supra-total resection strategy was associated with superior favorable seizure outcome following temporal glioblastoma resection compared to GTR. Regarding above mentioned survival benefit following ATL compared to GTR, ATL as an aggressive supra-total resection regime might constitute the surgical modality of choice for temporal-located glioblastoma.

scholarly journals Atypical Growth Pattern of an Intraparenchymal Meningioma

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Zhen Zeng ◽  
Tijiang Zhang ◽  
Yihua Zhou ◽  
Xiaoxi Chen
Keyword(s):  
Growth Pattern ◽  
Pineal Region ◽  
Pathological Examination ◽  
Intracranial Meningioma ◽  
Temporal Region ◽  
Right Cerebral Hemisphere ◽  
Dural Attachment ◽  
The Right ◽  
Chinese Male ◽  
Irregular Mass

Meningiomas are the most common primary nonneuroglial extra-axial neoplasms, which commonly present as spherical or oval masses with a dural attachment. Meningiomas without dural attachment are rare and, according to their locations, are classified into 5 varieties, including intraventricular, deep Sylvain fissure, pineal region, intraparenchymal, or subcortical meningiomas. To the best of our knowledge, intraparenchymal meningioma with cerebriform pattern has never been reported. In this paper, we report a 34-year-old Chinese male patient who presented with paroxysmal headaches and progressive loss of vision for 10 months and blindness for 2 weeks. A thorough physical examination revealed loss of bilateral direct and indirect light reflex. No other relevant medical history and neurologic deficits were noted. Computed tomography and magnetic resonance imaging scans showed an irregular mass with a unique cerebriform pattern and extensive peritumoral edema in the parietal-occipital-temporal region of the right cerebral hemisphere. The initial diagnosis was lymphoma. Intraoperatively, the tumor was completely buried in a sulcus in the parietal-occipital-temporal region without connecting to the dura. The histological diagnosis was intracranial meningioma based on pathological examination. Therefore, when an unusual cerebriform growth pattern of a tumor is encountered, an intraparenchymal meningioma should be considered as a differential diagnosis.

scholarly journals Rearrangement of the T cell receptor gamma-chain gene in childhood acute lymphoblastic leukemia

Blood ◽  
1987 ◽  
Vol 70 (6) ◽  
pp. 1933-1939
Author(s):  
A Tawa ◽  
SH Benedict ◽  
J Hara ◽  
N Hozumi ◽  
EW Gelfand
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
T Cell ◽  
T Cell Receptor ◽  
Gene Rearrangement ◽  
Lymphoblastic Leukemia ◽  
Leukemia Cell ◽  
Cell Receptor ◽  
Gene Rearrangements ◽  
Gamma Chain ◽  
Beta Gene

We analyzed rearrangements of the T cell receptor gamma-chain (T gamma) gene as well as rearrangements of the T cell receptor beta-chain (T beta) gene and immunoglobulin heavy-chain (IgH) gene in 68 children with acute lymphoblastic leukemia (ALL). All 15 patients with T cell ALL showed rearrangements of both T beta and T gamma genes. Twenty-four of 53 non-T, non-B ALL patients (45%) showed T gamma gene rearrangements and only 14 of these also showed T beta gene rearrangements. Only a single patient rearranged the T beta gene in the absence of T gamma gene rearrangement. The rearrangement patterns of the T gamma gene in non-T, non-B ALL were quite different from those observed in T cell ALL, as 20 of 23 patients retained at least one germline band of the T gamma gene. In contrast, all T cell ALL patients showed no retention of germline bands. These data indicate that rearrangement of the T gamma gene is not specific for T cell ALL. Further, the results also suggest that T gamma gene rearrangement precedes T beta gene rearrangement. The combined analysis of rearrangement patterns of IgH, T beta, and T gamma genes provides new criteria for defining the cellular origin of leukemic cells and for further delineation of leukemia cell heterogeneity.

scholarly journals Transcranial approaches for pituitary adenomas: current indications and clinical and radiological outcomes

2021 ◽  
Vol 36 (1) ◽  
Author(s):  
Mohamed M. Salama ◽  
Mohamed Reda Rady
Keyword(s):  
Pituitary Adenomas ◽  
Third Ventricle ◽  
Tumor Resection ◽  
Subtotal Resection ◽  
Combined Approach ◽  
Total Resection ◽  
Third Nerve Palsy ◽  
Clinical And Radiological Outcome ◽  
Transcranial Approach ◽  
Anterior Fossa

Abstract Background The indications of transcranial approaches for pituitary adenomas have declined in the last decades with the widespread performance of endoscopic transsphenoidal approaches. The aim of the study was to review the current indications of transcranial approaches for pituitary adenomas and to evaluate the clinical and radiological outcome following these approaches. Patients and methods This study included 16 patients with fresh, residual, or recurrent pituitary adenomas operated upon by transcranial approaches alone or in combination with transsphenoidal approaches. The indication to perform a transcranial approach was reviewed for each patient. Postoperative clinical outcome and the extent of tumor resection were assessed. Results The indications of transcranial approaches were significant parasellar and/or anterior fossa extensions in 6 patients, failed previous transsphenoidal surgery in 3 patients, giant adenoma extending into the third ventricle in 3 patients, dumbbell-shaped adenoma in 2 patients, and doubtful diagnosis in 2 patients. Two patients with invasive giant adenomas were operated upon by a combined approach. There was a single mortality. Permanent complications included visual loss in one patient, third nerve palsy in one patient, hypopituitarism in two patients, and permanent diabetes insipidus in two patients. Gross total resection was achieved in one patient, subtotal resection in seven patients, and partial resection in eight patients. Conclusion Transcranial approaches are still needed for some complex pituitary adenomas particularly giant tumors with significant lateral, anterior, or superior extensions, tumors with fibrous consistency particularly after failure of transsphenoidal approach, and dumbbell-shaped tumors with severe constriction at the diaphragm.

Endoscope-assisted far-lateral transcondylar approach for craniocervical junction chordomas: a retrospective case series and cadaveric dissection

2021 ◽  
pp. 1-12
Author(s):  
Arianna Fava ◽  
Paolo di Russo ◽  
Valentina Tardivo ◽  
Thibault Passeri ◽  
Breno Câmara ◽  
...  
Keyword(s):  
Vertebral Artery ◽  
Tumor Resection ◽  
Case Series ◽  
Craniocervical Junction ◽  
Anatomical Landmarks ◽  
Total Resection ◽  
Female Ratio ◽  
Cadaveric Dissection ◽  
Transcondylar Approach ◽  
Far Lateral

OBJECTIVE Craniocervical junction (CCJ) chordomas are a neurosurgical challenge because of their deep localization, lateral extension, bone destruction, and tight relationship with the vertebral artery and lower cranial nerves. In this study, the authors present their surgical experience with the endoscope-assisted far-lateral transcondylar approach (EA-FLTA) for the treatment of CCJ chordomas, highlighting the advantages of this corridor and the integration of the endoscope to reach the anterior aspect and contralateral side of the CCJ and the possibility of performing occipitocervical fusion (OCF) during the same stage of surgery. METHODS Nine consecutive cases of CCJ chordomas treated with the EA-FLTA between 2013 and 2020 were retrospectively reviewed. Preoperative characteristics, surgical technique, postoperative results, and clinical outcome were analyzed. A cadaveric dissection was also performed to clarify the anatomical landmarks. RESULTS The male/female ratio was 1.25, and the median age was 36 years (range 14–53 years). In 6 patients (66.7%), the lesion showed a bilateral extension, and 7 patients (77.8%) had an intradural extension. The vertebral artery was encased in 5 patients. Gross-total resection was achieved in 5 patients (55.6%), near-total resection in 3 (33.3%), and subtotal resection 1 (11.1%). In 5 cases, the OCF was performed in the same stage after tumor removal. Neither approach-related complications nor complications related to tumor resection occurred. During follow-up (median 18 months, range 5–48 months), 1 patient, who had already undergone treatment and radiotherapy at another institution and had an aggressive tumor (Ki-67 index of 20%), showed tumor recurrence at 12 months. CONCLUSIONS The EA-FLTA provides a safe and effective corridor to resect extensive and complex CCJ chordomas, allowing the surgeon to reach the anterior, lateral, and posterior portions of the tumor, and to treat CCJ instability in a single stage.

Complete Mitogenome of Threespot Flounder Grammatobothus polyophthalmus (Pleuronectiformes: Bothidae) and Study on the Mechanism of Gene Rearrangement in 13 Bothids

2019 ◽  
Author(s):  
Hairong Luo ◽  
Xiaoyu Kong ◽  
Shixi Chen ◽  
Wei Shi
Keyword(s):  
Gene Rearrangement ◽  
Structural Diversity ◽  
Mitochondrial Genomes ◽  
Gene Rearrangements ◽  
Significant Evidence ◽  
Rearrangement Process ◽  
Genomic Scale ◽  
Complete Mitogenome ◽  
Shed Light ◽  
High Diversity

Abstract Background: The mitochondrial genomes (mitogenomes) of 12 bothids (Pleuronectiformes) from eight genera have been obtained. From the data, the genomic-scale and various gene rearrangements revealed the high diversity of variation in these mitogenomes. Results: A total of 18170 bp of Grammatobothus polyophthalmus mitogenome was determined including 37 genes and two control regions (CRs). Genes encoded by L-strand were grouped to an eight-genes cluster (Q-A-C-Y-S1-ND6-E-P) except for the tRNA-N, other genes encoded by H-strand were grouped together (F-12S … CytB-T) except for the tRNA-D that was translocated to inside of the eight-genes cluster. The mitogenome of G. polyophthalmus and that of 12 known bothids possessed the similar genomic-scale rearrangements with the only differences in the various combinations of CR, tRNA-D and eight-genes cluster, and the shuffling of tRNA-V. Based on the structure character of all 13 bothid mitogenomes, the Dimer-Mitogenome and Non-Random Loss (DMNR) model was fitted to account for all these rearrangements. And the translocation of tRNA-D occurring after the DMNR process in 10 of 13 bothid mitogenomes was confirmed. The striking finding was that each of degenerated genes existing in the gene rearrangement process in 13 bothids had their counterparts of intergenic spaces. Conclusions: The result of corresponding relationship between degenerated genes and intergenic spaces provided the significant evidence to support the possibility of the DMNR model, as well as, the existing of dimeric mitogenome in mitochondrion. The findings of this study were rare phenomenona in teleost fish, which not only promoted the understanding of mitogenome structural diversity, but also shed light on studying of mitochondrial rearrangement and replication.

Microsurgical Resection of Cervical Intradural Juxtamedullary Solitary Fibrous Tumor: 2-Dimensional Operative Video

2020 ◽  
Vol 19 (5) ◽  
pp. E532-E532
Author(s):  
Paolo Perrini ◽  
Davide Tiziano Di Carlo ◽  
Nicola Montemurro ◽  
Nicola Benedetto ◽  
Valerio Ortenzi ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Nerve Root ◽  
Tumor Resection ◽  
Gross Total Resection ◽  
Total Resection ◽  
Neurophysiologic Monitoring ◽  
Intramedullary Lesion ◽  
Dural Attachment ◽  
Fibrous Tumor ◽  
Nerve Root Involvement

Abstract Solitary fibrous tumors (SFTs) are uncommon mesenchymal lesions originally described as pleura-based neoplasms. Intradural juxtamedullary SFTs are rare, hard, and scarcely vascularized and generally present a conspicuous extramedullary exophytic component without dural attachment and nerve root involvement. Gross-total resection is the mainstay of treatment, although the absence of an arachnoidal plane and the firm adherence to the spinal cord make resection challenging.  We describe the case of a 74-yr-old female patient presenting with a history of progressive spastic tetraparesis due to a cervical juxtamedullary SFT. The patient was not able to walk and magnetic resonance imaging (MRI) of the cervical spine demonstrated a possible intramedullary lesion at C2-C3 with homogeneous enhancement after gadolinium injection. Given the progressive nature of symptoms, the patient elected to have surgical resection of the tumor. The patient underwent C2-C3 laminoplasty and tumor resection under neurophysiologic monitoring. The tumor presented extremely hard without dural attachment or nerve root involvement and was progressively debulked using microsurgical techniques and ultrasonic aspirator. The identification of a plane between the mass and the spinal cord white matter allowed for a gross total resection. Permanent pathological analysis eventually demonstrated SFT. The patient's neurological condition was unchanged postoperatively. MRI performed 2 mo after the operation demonstrated gross total resection of the lesion. At the 6-mo follow-up visit, the patient was able to walk with assistance.  The patient signed the Institutional Consent Form to undergo the surgical procedure and to allow the use of her images and videos for any type of medical publications.

scholarly journals Endoscopic endonasal surgical management of chondrosarcomas with cerebellopontine angle extension

2014 ◽  
Vol 37 (4) ◽  
pp. E13 ◽  
Author(s):  
Paulo M. Mesquita Filho ◽  
Leo F. S. Ditzel Filho ◽  
Daniel M. Prevedello ◽  
Cristian A. N. Martinez ◽  
Mariano E. Fiore ◽  
...  
Keyword(s):  
Skull Base ◽  
Posterior Fossa ◽  
Cerebellopontine Angle ◽  
Tumor Resection ◽  
Petrous Bone ◽  
Petrous Apex ◽  
Total Resection ◽  
Endoscopic Endonasal ◽  
Female Ratio ◽  
Male Female Ratio

Object Skull base chondrosarcomas are slow-growing, locally invasive tumors that arise from the petroclival synchondrosis. These characteristics allow them to erode the clivus and petrous bone and slowly compress the contents of the posterior fossa progressively until the patient becomes symptomatic, typically from cranial neuropathies. Given the site of their genesis, surrounded by the petrous apex and the clival recess, these tumors can project to the middle fossa, cervical area, and posteriorly, toward the cerebellopontine angle (CPA). Expanded endoscopic endonasal approaches are versatile techniques that grant access to the petroclival synchondrosis, the core of these lesions. The ability to access multiple compartments, remove infiltrated bone, and achieve tumor resection without the need for neural retraction makes these techniques particularly appealing in the management of these complex lesions. Methods Analysis of the authors’ database yielded 19 cases of skull base chondrosarcomas; among these were 5 cases with predominant CPA involvement. The electronic medical records of the 5 patients were retrospectively reviewed for age, sex, presentation, pre- and postoperative imaging, surgical technique, pathology, and follow-up. These cases were used to illustrate the surgical nuances involved in the endonasal resection of CPA chondrosarcomas. Results The male/female ratio was 1:4, and the patients’ mean age was 55.2 ±11.2 years. All cases involved petrous bone and apex, with variable extensions to the posterior fossa and parapharyngeal space. The main clinical scenario was cranial nerve (CN) palsy, evidenced by diplopia (20%), ptosis (20%), CN VI palsy (20%), dysphagia (40%), impaired phonation (40%), hearing loss (20%), tinnitus (20%), and vertigo/dizziness (40%). Gross-total resection of the CPA component of the tumor was achieved in 4 cases (80%); near-total resection of the CPA component was performed in 1 case (20%). Two patients (40%) harbored high-grade chondrosarcomas. No patient experienced worsening neurological symptoms postoperatively. In 2 cases (40%), the symptoms were completely normalized after surgery. Conclusions Expanded endoscopic endonasal approaches appear to be safe and effective in the resection of select skull base chondrosarcomas; those with predominant CPA involvement seem particularly amenable to resection through this technique. Further studies with larger cohorts are necessary to test these preliminary impressions and to compare their effectiveness with the results obtained with open approaches.

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