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1.
JFMS Open Rep ; 10(2): 20551169241264134, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39099734

RESUMO

Case summary: A 4-year-old female neutered Scottish Fold shorthair cat was presented for further investigation of circling towards the right. MRI of the brain revealed an extensive, right-sided temporal muscle lesion with associated frontotemporal bone osteolysis, intracranial, extra-axial extension along the calvarial convexity with severe pachy- and leptomeningeal thickening and contrast enhancement, and an intra-axial space-occupying lesion in the right piriform lobe. The regional lymph nodes were moderately enlarged. Cytology of the right parotid lymph node and the temporal muscle was performed and histiocytic sarcoma (HS) was diagnosed. The owners elected euthanasia. Relevance and novel information: HS of the central nervous system (CNS) is a very rare neoplastic condition in cats. Although a few case reports mention MRI, to our knowledge, the characterisation of MRI features of feline CNS HS have not been investigated in detail. Therefore, the aim of this case report was to describe the MRI characteristics in a feline HS involving not only the CNS, but also the fronto-temporal bone, temporal muscle and the regional lymph nodes. In particular, aggressive neoplastic bone invasion was a novel finding.

2.
Emerg Radiol ; 31(4): 619-623, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38833078

RESUMO

To determine the incidence of enlarged extra-axial space (EES) and its association with subdural hemorrhage (SDH) in a regional cohort of preterm infants. As part of a prospective cohort study of 395 preterm infants, brain magnetic resonance imaging (MRI) was collected on each infant at term-equivalent age. Six preterm infants showed evidence of SDH. We reviewed the MRIs to identify the incidence of EES in these 6 infants and the cohort broadly. We then completed a retrospective chart review of the 6 infants to identify any concerns for non-accidental trauma (NAT) since the MRI was obtained. The incidence of SDH in the cohort was 1.6%. The incidence of EES was 48.1% including all 6 infants with SDH. The incidence of SDH in infants with EES was 3.2%. The retrospective chart review of the 6 infants did not yield any evidence of NAT. The incidence of EES and SDH in our cohort was significantly higher than similar cohorts of term infants, demonstrating an increased risk in preterm infants. The incidence of SDH in infants with EES was greater than in the total cohort, suggesting that it is a risk factor for asymptomatic SDH in preterm infants.


Assuntos
Hematoma Subdural , Recém-Nascido Prematuro , Imageamento por Ressonância Magnética , Humanos , Recém-Nascido , Masculino , Feminino , Hematoma Subdural/diagnóstico por imagem , Estudos Retrospectivos , Incidência , Estudos Prospectivos , Fatores de Risco , Doenças do Prematuro/diagnóstico por imagem
3.
Childs Nerv Syst ; 40(9): 2723-2733, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38762839

RESUMO

BACKGROUND: Intracranial mesenchymal chondrosarcoma (IMC) is a rare malignant tumor in pediatric population. IMC can present as extra- or intra-axial lesion in pediatric patients, though the former is commoner causing raised intracranial pressure (ICP). Radiological diagnosis is a challenge in these cases, as is it difficult to differentiate these from other extra-axial neoplasms due to the wide differential diagnosis in pediatric population. We aim to systematically review the literature and present a rare case of extraskeletal intracranial mesenchymal chondrosarcoma treated with safe maximal resection. METHODS: A systematic review of literature was conducted in accordance with PRISMA guidelines. PubMed and Scopus databases were queried using the search terms, "primary intracranial chondrosarcoma", "extraskeletal mesenchymal chondrosarcoma", "mesenchymal chondrosarcoma" and "pediatric". Presentation, surgical management and outcome of a 15-year-old male with an extraskeletal IMC are also described. RESULTS: The search yielded 25 articles which met the inclusion criteria. These published records consisted of 33 IMC cases with mean age at presentation of 9.81 ± 5.2 years (range 2 months to 18 years). Frontal region was the commonest locations (11, 33.3%). Most common presentation was headache (14, 42.4%). All patients underwent surgical intervention: gross total resection (20, 60.6%), subtotal resection (9, 27.3%) and no extent mentioned (4, 12.1%). No adjuvant therapy was received in 15 patients (45.5%). On latest follow-up, 11 patients (33.3%) are on remission, 5 patients (15.2%) are symptom free, 3 patients (9.1%) had recurrence, 2 patients (6.1%) had metastasis and 9 patients (27.3%) expired. CONCLUSION: IMC is a rare entity in pediatric population with imaging findings which are non-characteristic leading to its diagnostic challenge. It can masquerade as other extra-axial intracranial neoplasm (meningioma or hemangiopericytoma). Combination of clinico-radiological and pathological examination can help in accurate diagnosis.  Safe Maximal resection followed by radiotherapy is the preferred treatment strategy.


Assuntos
Neoplasias Encefálicas , Condrossarcoma Mesenquimal , Humanos , Condrossarcoma Mesenquimal/cirurgia , Condrossarcoma Mesenquimal/diagnóstico por imagem , Condrossarcoma Mesenquimal/patologia , Criança , Adolescente , Masculino , Neoplasias Encefálicas/cirurgia , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia , Lactente , Pré-Escolar
4.
Acta Neurol Belg ; 2024 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-38642294

RESUMO

AIM: We aimed to describe the computed tomography (CT) and magnetic resonance (MR) imaging findings of intracranial extra-axial chondroma. MATERIAL AND METHODS: We retrospectively evaluated the imaging findings of CT and MR examinations of six patients (three men and three women, aged 21-66 years) with histopathological diagnoses of intracranial extra-axial chondroma. RESULTS: Four tumors were located in the frontal region and two in the cavernous sinus. All the tumors showed low signals on diffusion-weighted images and high signals on apparent diffusion coefficient maps without restricted diffusion. There was no perifocal edema in all the tumors. Cavernous sinus chondromas were associated with bone erosion and anterior displacement of the internal carotid arteries, but without calcification. Calcification was present in all frontal chondromas. All the tumors revealed low signals on T1-weighted MR images. Frontal chondromas revealed mixed signals, but cavernous sinus chondromas were brightly hyperintense on T2-weighted MR images. No enhancement was detected in the two chondromas. An intense homogeneous enhancement was detected in a cavernous sinus chondroma. CONCLUSION: The imaging appearances of frontal extra-axial chondromas and cavernous sinus chondromas may have different imaging appearances. Although there is a wide range of imaging findings, the absence of restricted diffusion, perifocal edema, enhancement, and presence of low signals on T1-weighted MR images in a well-circumscribed calcified extra-axial mass should suggest an intracranial chondroma.

5.
Indian J Radiol Imaging ; 34(2): 351-355, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38549893

RESUMO

Isocitrate dehydrogenase mutant gliomas generally have a better prognosis than their wild-type counterpart. Recurrences are generally within the radiation field in the primary tumoral bed. Remote recurrence is uncommon and is usually intraparenchymal. Transformation to a higher grade has been observed with TP53 mutants. Presentation of glioma as an extra-axial lesion is extremely uncommon. No such cases of remote intracranial extra-axial recurrence have been reported in the literature. We describe the unique imaging findings in this case and attempt to formulate possible diagnoses. Intraoperative and pathological findings confirmed this unusual recurrence pattern.

6.
Childs Nerv Syst ; 40(6): 1961-1964, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38472390

RESUMO

Epidermoid cysts are infrequent, benign, slow-growing, space-occupying lesions that account for 0.5-1.8% of primary intracranial tumors. We report the case of a 17-month-old child who presented in 2015 for one episode of pallor associated with hypotonia. Epilepsy was excluded and MRI was recommended. The MRI was performed and there were no focal parenchymal lesions, but it showed an extra-axial ovoid lesion with imaging characteristics consistent with epidermoid cyst. Follow-up MRI at one year was performed and it showed minimal increased in dimensions of the cyst, without changes into the signal of the lesion. Another MRI was performed 7 years after and it showed complete resolution of the cyst. Six months afterwards, another MRI was performed and it confirmed the complete regression of the cyst, without any extra-axial masses reported. The patient did not present any neurological anomalies. No follow-up MRI was recommended afterwards. Spontaneous regression of epidermoid cyst in pediatric population is an extremely rare event, but it should be taken into account when the patient shows no symptoms. This is the third case of spontaneous regression of an epidermoid cyst reported in pediatric patients, and the first one in the temporal region. Careful follow-up and watchful waiting could be an option to surgical treatment in epidermoid cysts.


Assuntos
Cisto Epidérmico , Imageamento por Ressonância Magnética , Remissão Espontânea , Humanos , Cisto Epidérmico/cirurgia , Cisto Epidérmico/diagnóstico por imagem , Cisto Epidérmico/patologia , Criança
7.
Ann Med Surg (Lond) ; 86(3): 1669-1675, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38463083

RESUMO

Introduction: Medulloblastoma, a highly malignant embryonal tumor predominantly found in the pediatric population, typically arises within the cerebellum. This case report holds particular importance due to the rarity of medulloblastoma within the cerebellopontine angle (CPA). The distinct anatomical challenge posed by the CPA complex neurovascular structures, along with the absence of pathognomonic clinical or radiographic features, highlights the unique diagnostic and management challenge of this case. Case presentation: A 5-year-old boy presented with mild, progressively worsening headaches on CT/MRI imaging, which revealed a solid mass in the left CPA. Radiologically, the lesion closely resembled a CPA meningioma. The patient underwent a left retrosigmoid suboccipital craniectomy, utilizing a modified park bench position and careful burrhole creation. Intraoperatively, the tumor exhibited well-defined margins, firm adherence to cranial nerves, and complex tissue characteristics. Postoperatively, histopathological analysis identified nodular medulloblastoma, WHO grade IV, with immunohistochemical markers confirming its subtype. Discussion: This case highlights the critical role of surgical intervention in addressing rare tumors, emphasizing the need for multidisciplinary collaboration in both diagnosis and management to achieve a favorable outcome. Uncommon tumor locations, such as the CPA, require tailored approaches, and the utilization of advanced diagnostic techniques, including immunohistochemistry, aids in accurate subtype classification. Conclusion: This case highlights the critical role of surgical intervention in addressing rare tumors, emphasizing the need for multidisciplinary collaboration in both diagnosis and management to achieve a favorable outcome.

8.
J Neurol Surg B Skull Base ; 85(2): 131-144, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38449578

RESUMO

Introduction Meningiomas-the most common extra-axial tumors-are benign, slow-growing dural-based lesions that can involve multiple cranial fossae and can progress insidiously for years until coming to clinical attention secondary to compression of adjacent neurovascular structures. For complex, multicompartmental lesions, multistaged surgeries have been increasingly shown to enhance maximal safe resection while minimizing adverse sequela. Here, we systematically review the extant literature to highlight the merits of staged resection. Methods PubMed, Scopus, and Web of Science databases were queried to identify articles reporting resections of intracranial meningiomas using a multistaged approach, and articles were screened for possible inclusion in a systematic process performed by two authors. Results Of 118 identified studies, 36 describing 169 patients (mean age 42.6 ± 21.3 years) met inclusion/exclusion criteria. Petroclival lesions comprised 57% of cases, with the most common indications for a multistaged approach being large size, close approximation of critical neurovascular structures, minimization of brain retraction, identification and ligation of deep vessels feeding the tumor, and resection of residual tumor found on postoperative imaging. Most second-stage surgeries occurred within 3 months of the index surgery. Few complications were reported and multistaged resections appeared to be well tolerated overall. Conclusions Current literature suggests multistaged approaches for meningioma resection are well-tolerated. However, there is insufficient comparative evidence to draw definitive conclusions about its advantages over an unstaged approach. There are similarly insufficient data to generate an evidence-based decision-making framework for when a staged approach should be employed. This highlights the need for collaborative efforts among skull base surgeons to establish an evidentiary to support the use of staged approaches and to outline those indications that merit such an approach.

9.
Ann Med Surg (Lond) ; 86(2): 1124-1130, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38333306

RESUMO

Introduction and importance: Medulloblastomas are the most common malignant intra-axial brain tumour in paediatric patients and represent 35-40% of posterior fossa tumour types in children between 3 and 9 years of age. Medulloblastomas may also be found in adulthood. These tumours are classified into two groups according to its molecular characteristics and histological type. The desmoplastic/nodular subtype is the second common subtype after the classic one. Only three cases of desmoplastic/nodular extra-axial medelloblastoma have been previously reported in the literature originating from to the cerebellopontine angle. Case presentation: The authors report a new case of an extra-axial desmoplastic/nodular cerebellar medulloblastoma originating outside the cerebellopontine angle and mimicking a solitary cerebellar metastasis in a 49-year-old female patient who presented for a raised intracranial pressure and cerebellar syndrome. Clinical discussion: Medulloblastoma is a malignant embryonal intra-axial tumour of the cerebellum or posterior brain stem that occurs mainly in children. Medulloblastomas may also be found in adulthood. Desmoplastic/nodular medulloblastoma is the second most common type of all medulloblastomas. The intra-axial form is always predominant. Only three cases of extra-axial desmoplastic/nodular medulloblastoma have been reported in the literature. The authors will go through the literature to dissect this rare entity. Conclusion: Although considered a common paediatric intra-axial tumour, there are increasing numbers of solitary cases reporting an extra-axial presentation in different locations of the posterior cerebral fossa even in adulthood. These rare and unusual presentations and locations may mislead the correct diagnosis and delay treatment.

10.
Surg Neurol Int ; 15: 25, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38344102

RESUMO

Background: Pediatric glioblastoma multiforme (p-GBM) is an exceptionally rare and aggressive brain tumor, with even fewer reported cases with radiographic and intraoperative characteristics that mimic those of extra-axial lesions, often posing a diagnostic challenge. Despite advancements in imaging technologies, the diagnosis of GBM can still be intricate, relying primarily on histopathological confirmation. Case Description: We present a unique case of a 15-year-old female who presented to our hospital with a new-onset focal-to-bilateral tonic-clonic seizure described as clonic movements of her left hemicorps; on clinical examination, a subcutaneous mass was evident in the right parietal region. Magnetic resonance imaging of the brain revealed a sizable extra-axial enhancing mass measuring 9 cm, located in the right parieto-occipital region with notable bone invasion. Moreover, the intraoperative findings revealed an extra-axial mass attached to the dura. Total en bloc resection was achieved. The histopathological analysis confirmed the diagnosis of glioblastoma multiforme. Subsequently, the patient underwent adjuvant radiotherapy in conjunction with temozolomide chemotherapy. Postoperatively, she exhibited clinical improvement and remained stable throughout the 6-month follow-up period. Conclusion: We present the first case of extra-axial p-GBM in a young patient, which remarkably led to the destruction of the bone and finally resulted in a sizable parietal subcutaneous lesion in the absence of prior surgery or radiation.

11.
Cureus ; 16(1): e52479, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38371126

RESUMO

In this case report, we discuss a patient who experienced spontaneous regression of multiple intracranial meningiomas that were treated conservatively for 5 years after cessation of megestrol acetate, an exogenous progestin. In addition, we discuss the previous literature describing the relationship between exogenous progesterone medications and meningioma growth. This case, along with others reported, implies that cessation of progesterone therapy, when feasible, may alter the natural history of meningioma growth and thus impact treatment decisions.

12.
Neurol Int ; 16(1): 162-185, 2024 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-38251058

RESUMO

Cavernous angiomas (CAs) are benign vascular malformations predominantly seen in the brain parenchyma and therefore referred to as intra-axial. Extra-axial dural-based cavernous angiomas, on the other hand, are rare vascular lesions found outside of the brain parenchyma. They occur in the middle fossa and may be easily misdiagnosed as meningiomas due to their extra-axial location. In addition, CAs that are located outside the middle fossa, such as in the convexity, have a better prognosis since they are more surgically accessible. Surgical resection is the main treatment of choice in CAs. However, other options, such as embolization and radiotherapy, may also be considered therapeutic choices or additive treatment options. The pathogenesis of CA and the involvement of other factors (genetics or environmental factors) are still unknown and require further investigation. We are presenting a young man who presented for evaluation of seizure-like events without any family history of neurologic conditions. The physical examination was unremarkable except for a slightly antalgic gait. Imaging studies showed an extra-axial left tentorial mass suggestive of a meningioma, hemangiopericytoma, or other extra-axial lesions. The lesion was resected where its vascular nature was mentioned initially, and the histology proved the diagnosis of cavernous angioma. Here we give an overview of the known pathogenesis, causes, clinical features, and diagnostic and therapeutic options in CA. Better knowledge about CA, its causes, clinical features, and treatment options would help clinicians in early diagnosis and patient management.

13.
J Neurosurg ; 140(3): 735-745, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37877991

RESUMO

Cavernous-type malformations are venous lesions that occur in multiple locations throughout the body, and when present in the CNS, they have canonically been referred to as cavernomas, cavernous angiomas, and cerebral cavernous malformations. Herein all these lesions are referred to as "cavernous venous malformations" (CavVMs), which is congruent with the current International Society for the Study of Vascular Anomalies classification system. Even though histologically similar, depending on their location relative to the dura mater, these malformations can have different features. In Part 1 of this review, the authors discuss and review pertinent clinical knowledge with regard to CavVMs as influenced by anatomical location, starting with the dural and extradural malformations. They particularly emphasize dural CavVMs (including those in the cavernous sinus), orbital CavVMs, and spinal CavVMs. The genetic and histopathological features of CavVMs in these locations are reviewed, and commonalities in their presumed mechanisms of pathogenesis support the authors' conceptualization of a spectrum of a single disease entity. Illustrative cases for each subtype are presented, and the pathophysiological and genetic features linking dural and extradural to intradural CavVMs are examined. A new classification is proposed to segregate CavVMs based on the location from which they arise, which guides their natural history and treatment.


Assuntos
Malformações Vasculares do Sistema Nervoso Central , Hemangioma Cavernoso do Sistema Nervoso Central , Hemangioma Cavernoso , Humanos , Sistema Nervoso Central/patologia , Hemangioma Cavernoso do Sistema Nervoso Central/diagnóstico por imagem , Hemangioma Cavernoso do Sistema Nervoso Central/genética , Hemangioma Cavernoso do Sistema Nervoso Central/cirurgia , Malformações Vasculares do Sistema Nervoso Central/diagnóstico por imagem , Malformações Vasculares do Sistema Nervoso Central/cirurgia , Malformações Vasculares do Sistema Nervoso Central/patologia , Veias/patologia
14.
World Neurosurg X ; 21: 100257, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38090192

RESUMO

Background: Traumatic brain injury is a leading cause of mortality and morbidity in Africa. Craniotomy is the surgical standard for acute extra-axial hematomas that is not realistic in LMIC due to deficient human and operative resources. Burr hole surgery may be an alternative in resource-limited settings. This study aimed at determining outcomes and factors associated with burr hole surgery as definitive management of traumatic extra-axial hematomas. Methods: Hospital-based cross-sectional study of patients with acute traumatic extra-axial hematomas who underwent burr hole surgery. Data were extracted from the patient's medical records after confirmation of the surgery and CT scan findings. The data were entered to SPSS 25 for analysis where a bivariate analysis was done. Results: 156 participants were enrolled; 149 (95.5 %) were males. The mean age of the participants was 35.33 (SD 15.37) years. The mean arrival GCS was 11.76 ± 3.59. Most participants had mild, followed by severe then moderate (55.8 %, 24.4 %, and 19.9 % respectively) TBI. 118 (75.6 %) participants had good outcomes and the overall in-hospital mortality was 18.6 %. 109 (69.9 %) had epidural hematomas mostly (21 %) in the parietal lobe. 30 (19.2 %) had brain herniation syndromes. Poor outcomes were associated with age above 50 years, severe TBI, motor response <4, abnormal pupil size, other injuries, ICU admission, SDH, midline shift >10 mm, cerebral edema, and brain herniation syndromes. Surgical site infection and hemostasis by packing were associated with a long length of hospital stay. Conclusion: Burr hole surgery is still a safe, effective, and simple life-saving procedure in patients with acute hematomas in resource-constrained areas.

15.
Asian J Neurosurg ; 18(3): 484-491, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38152510

RESUMO

Introduction We report 30 cases of nonmeningothelial dural-based lesions encountered during a 3-year study period. Materials and Methods We retrospectively reviewed pathology records of patients operated for extra-axial, dural-based lesions during the years 2016 to 2018 and included nonmeningothelial lesions as a part of this study. Results Among the 3,243 neurosurgical specimens for histopathologic examination, only 30 (0.93%) were "nonmeningothelial dural-based lesions." Six (20%) patients were in the pediatric age group. Pathologic assessment identified 13 cases of solitary fibrous tumor/hemangiopericytoma (43.3%) and 7 cases of Ewing's sarcoma/primitive neuroectodermal tumor (23.3%). Two cases (6.7%) were of metastasis. Other lesions included a single case each of non-Hodgkin's lymphoma, undifferentiated sarcoma, solitary plasmacytoma, and granulocytic sarcoma. Nonneoplastic lesions included two cases each of Rosai-Dorfman disease and nonspecific inflammatory lesions. Conclusion Nonmeningothelial dural-based lesions being rare, thorough examination of morphological features is a must by the pathologist, to arrive at the accurate diagnosis. Ancillary tests, if required, should be employed in the context of the morphologic picture.

16.
Ann Med Surg (Lond) ; 85(11): 5634-5640, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37915672

RESUMO

Introduction and importance: Ependymomas are central nervous system tumors arising from the ependymal lining of the ventricle and spinal cord. Supratentorial extra-axial ependymomas are very rare, most commonly affecting the pediatric population and rarely in adults. Case presentation: The authors report a case of a 71-year-old female with a headache and blurred vision. An MRI scan revealed a lesion at the parafalcine region of the occipital lobe. A parieto-occipital craniotomy was performed. When the dura was opened during the operation, the extra-axially located, well-circumscribed, dirty yellow-white tumor dissected from the surrounding tissue was excised entirely by microdissection. Histopathological examination revealed supratentorial extra-axial anaplastic ependymoma. The patient received postoperative radiation therapy (54 Gray over 30 fractions). No recurrence of the tumor was observed during the 4-year follow-up. Discussion: Supratentorial ependymomas at the extra-axial region are uncommon; extra-axial anaplastic ependymoma and meningiomas have similar radiological findings, such as a dural tail, subarachnoid plane, and diffuse enhancement after contrast injection. This close similarity might cause misdiagnoses. Total surgical resection was followed by adjuvant radiotherapy and close follow-up in the gold standard of the treatment. Conclusion: The authors report a rare case of anaplastic ependymomas located at the extra-axial region. Anaplastic tumors are prone to recurrence despite total resection and radiation therapy; hence, a close follow-up is warranted.

17.
J Neurosurg Case Lessons ; 6(17)2023 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-37871342

RESUMO

BACKGROUND: Extra-axial cavernous malformations involving the foramen magnum are rare, and preoperative diagnosis becomes difficult when they mimic meningiomas. OBSERVATIONS: The authors present 2 cases of extra-axial cavernous malformations involving the foramen magnum. Surgical removal of the lesions was performed via far lateral craniotomy. The authors investigate the disease and elaborate the differential diagnosis. LESSONS: The authors recommend that extra-axial cavernous malformations should be considered in the differential diagnosis of lesions in the foramen magnum region. Intraoperative frozen sections are helpful to the diagnosis, and resection warranted a favorable long-term outcome.

18.
Virchows Arch ; 2023 Aug 18.
Artigo em Inglês | MEDLINE | ID: mdl-37594643

RESUMO

Chordoma is a rare malignant tumor with notochordal differentiation, usually affecting the axial skeleton of young patients. We report a case of a high-grade epithelioid tumor involving the synovium and soft tissues of the knee in a 74-year-old male patient. The preliminary biopsy was inconclusive, but a diagnosis of metastatic clear-cell carcinoma of unknown origin was suggested. However, imaging studies did not reveal any primary lesions. The resection specimen consisted of nests and sheets of oval to polygonal cells with discernible cell borders, clear or lightly amphophilic cytoplasm, and round to oval nuclei with occasional well-visible eosinophilic nucleoli. Rare atypical mitoses, necrotic areas, and bizarre nuclei were noted. The biopsy and resection specimens underwent a wide molecular genetic analysis which included methylation profiling. The DKFZ sarcoma classifier assigned the methylation class chordoma (dedifferentiated) with a calibrated score of 0.96, and additionally, a loss of SMARCB1 locus was noted in the copy number variation plot. To verify these findings, T-brachyury and SMARCB1 immunostaining was performed afterward, showing diffuse nuclear positivity and complete loss in the tumor cells, respectively. To assess the prevalence of T-brachyury immunopositivity among SWI/SNF-deficient tumors and to evaluate its specificity for poorly differentiated chordoma, we analyzed a series of 23 SMARCB1- or SMARCA4-deficient tumors, all of which were negative. After incorporating all the available data, including the absence of any morphological features of conventional chordoma, the case was diagnosed as poorly differentiated chordoma. As illustrated herein, the utilization of methylation profiling in the diagnostic process of some carefully selected unclassifiable soft tissue neoplasms may lead to an increased detection rate of such extremely rare soft tissue tumors and enable their better characterization.

19.
World J Surg Oncol ; 21(1): 188, 2023 Jun 21.
Artigo em Inglês | MEDLINE | ID: mdl-37344889

RESUMO

BACKGROUND: A comprehensive understanding of the clinical characteristics and prognostic factors associated with axial chondroblastoma (ACB) is still lacking. This study aimed to understand the clinical characteristics and prognostic factors of axial chondroblastoma (ACB) and compare them with extra-axial chondroblastoma (EACB). METHODS: A retrospective review of our institution's local database was conducted, encompassing a total of 132 CB patients, of which 61 were diagnosed with ACB and 71 with EACB. Immunohistochemistry was employed to evaluate the expression levels of vimentin, S100, and cytokeratin. RESULTS: ACB and EACB shared similar characteristics, with the exception of advanced age, tumor size, elevated Vim expression, incidence of surrounding tissue invasion, and postoperative sensory or motor dysfunction. While wide resection and absence of surrounding tissue invasion consistently showed a favorable association with survival in both ACB and EACB cohorts during univariate analysis, most parameters exhibited differential prognostic significance between the two groups. Notably, the significant prognostic factors for local recurrence-free survival in the ACB cohort included the type of resection and the presence of chicken-wire calcification. In the multivariate analysis of overall survival, the type of resection emerged as a significant predictor in the ACB cohort, whereas in the EACB group, the type of resection and the occurrence of postoperative sensory or motor dysfunction were predictive of overall survival. CONCLUSION: There may exist distinct biological behaviors between ACB and EACB, thereby providing valuable insights into the prognostic characteristics of ACB patients and contributing to enhanced outcome prediction in this particular patient population.


Assuntos
Neoplasias Ósseas , Condroblastoma , Humanos , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/patologia , Condroblastoma/diagnóstico , Condroblastoma/cirurgia , Imuno-Histoquímica , Prognóstico , Estudos Retrospectivos
20.
Childs Nerv Syst ; 39(12): 3607-3612, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37300577

RESUMO

INTRODUCTION: Intracranial myeloid sarcoma is a rare extramedullary presentation of acute myeloid leukemia (AML). It can involve the meninges and ependyma presenting as extra-axial mass lesion. Rarely, it can also invade the brain parenchyma. It is commonly seen in children. It is usually misdiagnosed due to its close resemblance to other intracranial tumors (meningioma, metastasis, Ewing's sarcomas, and lymphoma). These are underdiagnosed if they precede the diagnosis of leukemia. CASE REPORT: A 7-year-old boy with isolated intracranial myeloid sarcoma who presented with raised intracranial pressure (ICP) which was successfully managed by surgical excision. CONCLUSION: Isolated intracranial myeloid sarcoma is a rare presentation of AML. Leukemia can be diagnosed early during the postoperative period and can be started on therapy timely. These patients requires regular follow-ups (clinical, laboratory and radiological) to detect relapses early.


Assuntos
Neoplasias Encefálicas , Leucemia Mieloide Aguda , Neoplasias Meníngeas , Sarcoma de Ewing , Sarcoma Mieloide , Masculino , Criança , Humanos , Sarcoma Mieloide/diagnóstico por imagem , Sarcoma Mieloide/cirurgia , Leucemia Mieloide Aguda/diagnóstico por imagem , Leucemia Mieloide Aguda/patologia , Neoplasias Meníngeas/diagnóstico , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/cirurgia
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