Clear Cell Renal Cell Carcinoma with Hemangioblastoma-Like Features: A Case Report

Abstract Background: Clear cell renal cell carcinoma (ccRCC) constitutes the most frequently encountered sporadic class of kidney cancer in adults. Recently, a rare form of clear cell kidney cancer known as ccRCC with hemangioblastoma-like features was proposed, with unique immunological characteristics and a good prognosis. The tumor expressed alpha-inhibin and carbonic anhydrase Ⅸ (CA9) as examined by immunohistochemistry. Methods: Herein, we report a clinical instance of ccRCC with hemangioblastoma-like features. A 49-year-old woman presenting with a chief complaint of hematuria underwent a comprehensive and meticulous assessment. Imaging findings indicated the presence of a mass in the right kidney. Subsequently, she underwent a partial nephrectomy. Results: Histopathological analysis of the resected specimen confirmed the presence of ccRCC with hemangioblastoma-like features. The patient was discharged from the hospital six days post-surgery and could resume her daily activities. During a one-year follow-up after surgery, no signs of recurrence were detected. Conclusions: This case demonstrates the importance of including ccRCC with hemangioblastoma-like features in the differential diagnosis of renal masses in patients with hematuria, and suggests partial nephrectomy as an effective treatment modality for this rare subtype of renal cell carcinoma. However, because of the small number of reported cases and insufficient follow-up time, further investigation is necessary to determine the optimal therapeutic approach and to identify the molecular and genetic characteristics of this tumor (AU)

Pediatric medulloblastoma express immune checkpoint B7-H3

PurposeMedulloblastomas (MB) are highly malignant brain tumors that predominantly occur in young infants. Immunotherapy to boost the immune system is emerging as a novel promising approach, but is often hampered by inhibitory immune checkpoints. In the present study, we have studied immune checkpoint B7-H3 expression in a tissue cohort of human pediatric MB.MethodsExpression of B7-H3 was detected by immunohistochemistry and classified via B7-H3 staining intensity and percentage of B7-H3 positive tumor cells. Subsequently, B7-H3 protein expression was distinguished in MB molecular subtypes and correlated to immune cell infiltrates, patient characteristics, and survival.ResultsB7-H3 protein expression was found in 23 out of 24 (96%) human pediatric MB cases and in 17 out of 24 (71%) MB cases > 25% of tumor cells had any level of B7-H3 expression. B7-H3 protein expression was more frequent on Group-4 MB as compared with other molecular subtypes (p = 0.02). Tumors with high B7-H3 expression showed less influx of γδT cells (p = 0.002) and CD3+ T cells (p = 0.041).ConclusionImmune checkpoint B7-H3 is differentially expressed by the large majority of pediatric MB. This further warrants the development of novel B7-H3-directed (immuno)therapeutic methods for children with incurable, metastatic, or chemo-resistant MB.

BRCA2 deficiency increases sensitivity of medulloblastoma to Olaparib by inhibiting RAD51-mediated DNA damage repair system

PurposeBRCA2 defect exists in glioma and regulates drug resistance of glioma to chemotherapy. However, its role in medulloblastoma and the mechanism is not known. To investigate the effects of BRCA2 deficiency combined with Olaparib in medulloblastoma and the mechanism.MethodsBRCA2 was knocked down by RNAi technology and cell proliferation was detected by CCK-8 assay. Cell apoptosis was determined by FACS analysis when the in vivo role of BRCA2 was explored with xenograft mice model. Western blotting technology was used to explore the mechanism of BRCA2.ResultsKnockdown of BRCA2 enhanced the inhibitory effect of Olaparib on proliferation of Daoy and LN229 cells. The inhibition rate of Olaparib on Daoy or LN229 cells was 61.1%, 66.03% in shBRCA2 group, while it was 42.9%, 41.1% in shNC group. Overexpression of RAD51 partially reversed the effect of shBRCA2. In Daoy cells, apoptotic rate was 26.9% in Olaparib group and 58.9% in Olaparib/shBRCA2 group. However, it was 33.4% after RAD51 was overexpressed. It was the same in LN229 cells. In xenograft mice model, tumor volume in Olaparib and Olaparib/shBRCA2 group was 376.12 and 84.95mm3 when tumor weight was 0.46 g and 0.12 g. In addition, the level of RAD51, RAD50, MRE11, and NBS was increased by Olaparib alone but decreased reversely after knockdown of BRCA2 in Daoy cells.ConclusionsKnockdown of BRCA2 increases the sensitivity of medulloblastoma cells to Olaparib and strengthens the efficacy of Olaparib in vitro and in vivo. Knockdown of BRCA2 causes DNA damage repair by regulating RAD51-mediated signaling pathway in Daoy cells.

SEOM clinical guideline for management of adult medulloblastoma (2020)

Recent advances in molecular profiling, have reclassified medulloblastoma, an undifferentiated tumor of the posterior fossa, in at least four diseases, each one with differences in prognosis, epidemiology and sensibility to different treatments. The recommended management of a lesion with radiological characteristics suggestive of MB includes maximum safe resection followed by a post-surgical MR < 48 h, LCR cytology and MR of the neuroaxis. Prognostic factors, such as presence of a residual tumor volume > 1.5 cm2, presence of micro- or macroscopic dissemination, and age > 3 years as well as pathological (presence of anaplastic or large cell features) and molecular findings (group, 4, 3 or p53 SHH mutated subgroup) determine the risk of relapse and should guide adjuvant management. Although there is evidence that both high-risk patients and to a lesser degree, standard-risk patients benefit from adjuvant craneoespinal radiation followed by consolidation chemotherapy, tolerability is a concern in adult patients, leading invariably to dose reductions. Treatment after relapse is to be considered palliative and inclusion on clinical trials, focusing on the molecular alterations that define each subgroup, should be encouraged. Selected patients can benefit from surgical rescue or targeted radiation or high-dose chemotherapy followed by autologous self-transplant. Even in patients that are cured by chemorradiation presence of significant sequelae is common and patients must undergo lifelong follow-up (AU)

Linfoma primario del sistema nervioso central aparentando lesión del ángulo pontocerebeloso / Primary central nervous system lymphoma mimicking cerebellopontine angle lesión

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Intubación con fibra óptica en un niño con dificultad de la vía no prevista previamente, debido a hipertrofia de amígdala lingual / Fiberoptic intubation in a child with previous unexpected difficult airway due to lingual tonsil hypertrophy

Las amígdalas linguales son componentes normales de la orofaringe, situadas en la base de la lengua, que a veces pueden agrandarse debido a inflamación. Esto puede ser causa de vía aérea difícil no prevista, considerando que muchos pacientes son asintomáticos y que esta masa supra-glótica no es detectada habitualmente durante la valoración rutinaria preoperatoria de la vía aérea. Se describe de manera común en adultos, pero existen pocos informes sobre pacientes pediátricos. Describimos el caso de un niño de 12 años, con diagnóstico de tumor cerebral cerebeloso, programado para resección quirúrgica. La primera cirugía se pospuso debido a complicaciones respiratorias como resultado de vía aérea difícil a causa de hipertrofia de la amígdala lingual. Se reprogramó la cirugía, estableciéndose un plan para el tratamiento de la vía aérea: intubación con fibra óptica con ventilación espontánea. Considerando que se trata de un problema que no puede identificarse mediante una exploración regular de la vía aérea, debemos tomar conciencia acerca de los modos más efectivos de manejar esta situación, cuando surja

Lingual tonsils are normal components of the oropharynx localized at the base of the tongue, which sometimes can become enlarged by inflammation. This may be a cause of unexpected difficult airway, considering most patients are asymptomatic and this supraglottic mass is not usually detected during a routine preoperative airway assessment. Commonly described in adults, there are limited reports in pediatric patients. We describe a case of a 12 years old boy diagnosed with a cerebellar brain tumor that was scheduled for a resection. The first surgery was postponed because of respiratory complications as a result of unexpected difficult airway due to lingual tonsil hypertrophy. His surgery was rescheduled and a plan for airway management was laid out: fibroscopic intubation with spontaneous ventilation. Considering this is a problem that cannot be identified by regular airway examination, we should be aware of the most effective ways to manage the situation as it arises

Bacteriemia por Actynomices oris / Bacteremia by Actynomices oris

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Múltiples imágenes nodulares hipervasculares / Multiple hypervascular nodule images

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Síndrome afectivo-cognitivo cerebeloso secundario a tumor cerebeloso / Cerebellar cognitive affective syndrome secondary to a cerebellar tumour

El síndrome afectivo-cognitivo cerebeloso se caracteriza por alteración en funciones ejecutivas, problemas de organización y memoria visuoespacial, alteración en la producción del lenguaje y trastorno de conducta. Niño de 11 años con dificultades de aprendizaje, trastorno de conducta y problemas de interacción social. En la exploración física destaca conducta inmadura, escaso contacto visual, dificultad para mantener la atención, lenguaje expresivo pobre y disabilidad motriz global con dispraxia para las variantes de la marcha, sin signos cerebelosos definidos. Valoración neuropsicológica: cociente intelectual 84 con datos compatibles con síndrome afectivo-cognitivocerebeloso. RM cerebral: proceso expansivo en vermis cerebeloso inferior, que permanece estable tras 5 años de seguimiento. El cerebelo participa como centro coordinador de funciones cognitivas y emocionales. Ante un niño con un trastorno de aprendizaje con componente conductual y afectivo asociado debe incluirse la patología cerebelosa en el diagnóstico diferencial y descartar una lesión a este nivel

Cerebellar cognitive affective syndrome is characterized by disturbances of executive function, impaired spatial cognition, linguistic difficulties, and personality change. The case of an 11 year old boy is presented, with behavior problems, learning difficulties and social interaction problems. In the physical examination he had poor visual contact, immature behavior, reduced expressive language and global motor disability with gait dyspraxia, with no defined cerebellar motor signs. In the neuropsychological evaluation he has a full scale overall intellectual quotient of 84, with signs of cerebellar cognitive affective syndrome. A tumour affecting inferior cerebellar vermis was observed in the magnetic resonance imaging, which had not significantly grown during 5 years of follow up. The cerebellum participates in controlling cognitive and affective functions. Cerebellar pathology must be considered in the differential diagnosis of children with cognitive or learning disorder with associated behavioral and emotional components

Neurocitoma atípico de cerebelo que simula un hemangioblastoma. Presentación de un caso / Atypical cerebellar neurocytoma resembling a hemangioblastoma. A case report

Hasta agosto 2013 se han descrito alrededor de 105 casos de neurocitomas extraventriculares intracraneales, de los cuales el 6% se localizan en el cerebelo y el 22% son neurocitomas extraventriculares atípicos. El neurocitoma extraventricular atípico es una variante infrecuente, con solo 24 casos descritos y con un pronóstico más sombrío que el neurocitoma central típico. Se presenta un neurocitoma extraventricular atípico de cerebelo, nunca publicado hasta la fecha; de ahí el interés de este trabajo. Destaca la singularidad de ser un tumor quístico con nódulo mural, una presentación poco frecuente. Los neurocitomas extraventriculares son tumores con baja incidencia que deben considerarse en el diagnóstico diferencial inicial de lesiones cerebelosas quísticas con nódulo mural. Dado que el pronóstico depende del grado de atipia y de la resección quirúrgica, en casos de neurocitomas extraventriculares atípicos el seguimiento debe ser más estrecho, por el mayor riesgo de recidivas que presentan

Through August 2013, 105 cases of intracranial extraventricular neurocytoma (EVN) had been described; 6% were located in cerebellum and 22% were atypical EVN.A rare morphologic form of neurocytoma, atypical EVN has had only 24 cases reported to date. Its prognosis is poorer than the typical central neurocytoma. This case report describes an atypical cerebellar EVN, a form that has not been reported yet, hence the interest of this article. We emphasise its cystic nature and mural nodule, in an infrequent presentation.EVN are low-incidence tumours that we need to take into consideration when making the differential diagnosis of cystic cerebellar lesions with mural nodule. Given that the prognosis of atypical EVNs depends on the atypical nature and on the grade of resection, medical follow up has to be more constant, due to the greater degree of recurrence

Linfoma primario del sistema nervioso central de localización cerebelosa / Primary lymphoma of the central nervous system located in the cerebellum

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Meduloblastomas del adulto: serie quirúrgica de 11 casos / No disponible

Introducción. Los meduloblastomas son tumores malignos, invasivos, altamente celulares, del cerebelo, infrecuentes en el adulto. En el presente trabajo describiremos la experiencia en el manejo de esta patología en nuestro centro.Material y métodos. Se trata de un trabajo retrospectivo que incluyó 11 pacientes adultos con diagnóstico de meduloblastoma del eje craneoespinal atendidos entre 1984-2010. Se evaluaron datos clínicos, radiológicos y terapéuticos durante la evolución de la enfermedad.Resultados. La edad media de los pacientes fue 30,2 años (9 mujeres y 2 varones). Más del 80% de los pacientes manifestaron clínica de hipertensión intracraneal, mientras el 54,5% presentaron síndrome cerebeloso. El grado de resección quirúrgica fue total en 8 pacientes (72,7%) y subtotal en 3 (27,3%). Todos los pacientes recibieron tratamiento radioterápico adyuvante. Posterior a la exéresis tumoral inicial, 6 pacientes recibieron quimioterapia adyuvante con cisplatino (CDDP) y etopósido (VP-16). Durante el seguimiento, después de un tiempo medio de 35,2 meses, se observaron recidivas en el 36,4% de los pacientes (n= 4), con mayor frecuencia en la fosa posterior, empleando en todos ellos tratamiento con cirugía y quimioterapia. El tiempo medio de supervivencia fue 100,3 meses, con un índice de supervivencia estimado a los 5 y 8 años de seguimiento del 84 y 56 % respectivamente.Conclusiones. La máxima resección quirúrgica forma parte crucial del tratamiento, seguida de adyuvancia oncológica tan pronto sea posible, con radioterapia seguida o no de quimioterapia (AU)

Introduction. Medulloblastomas are malignant, invasive and highly cellular tumours from the cerebellum, rarely seen in adults. We describe the experience in the treatment of this entity in our institution.Materials and methods. A retrospective study was made including 11 adult patients with medulloblastomas confined to the craniospinal axis treated between 1984-2010. Clinical, radiological and therapeutic data were assessed during the evolution of this entity.Results. Mean age of patients was 30,2 years (9 women/2 men). Over 80% of the patients presented intracranial hypertension, while 54,5% presented cerebellum syndrome. Gross total surgical resection was achieved in 8 patients (72,7%) and subtotal resection in the other 3 (27,3%). All patients received craniospinal radiotherapy. After primary surgical resection, 6 patients received chemotherapy with cisplatin (CDDP) and etoposide (VP-16). During the follow up period and after a median time of 35,2 months, 4 patients (36,4%) presented with relapse, mainly in the posterior cranial fossa, managed in the majority of cases with surgical resection plus additional chemotherapy. Mean survival time was 100,3 months with a 5- and 8- year overall survival rate of 84 and 56% respectively. Conclusions. In the treatment of this malignancy, gross surgical resection has a crucial role, followed as soon as possible by oncological therapy, specially radiotherapy and chemotherapy if needed (AU)

Radiocirugía como tratamiento complementario del meduloblastoma recidivado del adulto: respuesta ultratemprana / The role of radiosurgery after multimodality treatment of recurrent desmoplastic adult medulloblastoma is analyzed. The ultra-early clinical and pathological response of this tumor to adjunctive radiosurgery is stressed

Se analiza el papel de la radiocirugía en un caso de meduloblastoma multirrecidivado del adulto tras dos intervenciones, radioterapia fraccionada, quimioterapia y dos autotrasplantes. Se resalta la precocidad de la respuesta clínico-patológica al tratamiento radioquirúrgico (AU)

The role of radiosurgery after multimodality treatment of recurrent desmoplastic adult medulloblastoma is analyzed. The ultra-early clinical and pathological response of this tumor to adjunctive radiosurgery is stressed (AU)

Meduloblastoma: una presentación infrecuente en la recurrencia local / Meduloblastoma: infrequent onset in local recurrence

Introducción. El meduloblastoma es un tumor con un elevado potencial de recurrir y de metastatizar.Caso clínico. Presentación de un caso de meduloblastoma de fosa posterior en un niño de 6 años intervenido en 3 ocasiones y tratado con quimioterapia y radioterapia con una recurrencia local que se extendía extracranealmente a nivel de la musculatura laterocervical del cuello.Conclusión. Aunque las metástasis extracraneales del meduloblastoma no es un fenómeno aislado, la extensión extracraneal del meduloblastoma es un fenó-meno poco frecuente en la recurrencia local (AU)

Introduction. Meduloblastoma is high potential to recur and spread tumour.Case report. One case posterior fosse meduloblastoma in six years old boy who received 3 surgeries, chemotherapy and radiotherapy, with local recurrence and extracranial extension into neck laterocervical musculature.Conclusion. Although meduloblastoma extraneural metastases are not isolated phenomenon, meduloblastoma extracraneal extension is uncommon phenomenon in local recurrence (AU)

Sarcoma fibromixoide de bajo grado intracraneal: a propósito de un caso / Low-grade intracranial fibromyxoid sarcoma: a case report

El objetivo de esta comunicación es ilustrar los hallazgos por resonancia magnética y tomografía computarizada del sarcoma fibromixoide de bajo grado de localización intracraneal extraaxial del que solo existen tres casos descritos en la literatura médica previamente. Para ello presentamos el caso de una mujer de 18 años con una historia de hipoacusia, acúfenos, cefalea occipital y paresia facial izquierda de 5 meses de evolución. En la tomografía computarizada se objetivó una gran lesión expansiva homogénea en el ángulo pontocerebeloso izquierdo que erosionaba el peñasco y afectaba al agujero rasgado posterior; en la resonancia magnética se comportaba como una lesión homogénea e isointensa en T1 y heterogénea e hipointensa en T2 en relación con el parénquima cerebral con realce de forma intensa y homogénea con la administración de contraste. El diagnóstico definitivo se estableció con la anatomía patológica y la inmunohistoquímica (AU)

The aim of this report is to show the MRI and CT findings for an extra-axial intracranial low-grade fibromyxoid sarcoma. To our knowledge, only three similar cases have been reported to date. We present the case of an 18-year-old woman who presented with a five-month history of hypoacusia, tinnitus, occipital headache, and left facial paresis. CT showed a large, homogeneous, expansive lesion in the left pontocerebellar angle that was eroding the promontory and affecting the posterior jugular foramen. At MRI, the lesion was homogeneous and isointense with respect to the cerebral parenchyma on T1-weighted sequences and heterogeneous and hypointense on T2-weighted sequences; after the administration of contrast material, it showed intense, homogeneous enhancement. The definitive diagnosis was established by histopathologic and immunohistochemical study (AU)

Cerebellar involvement in Hodgkin's lymphoma: an atypical site of relapse

The presentation of intracranial metastases from Hodgkin's lymphoma is an infrequent event that worsens clinical outcome. A case of Hodgkin's lymphoma relapse in the cerebellum is described in a 70-year-old woman with a previously treated stage IVA Hodgkin's lymphoma. Diagnostic workup and treatment strategies for central nervous system relapses are reviewed and discussed. A combination of surgery, radiotherapy and occasionally chemotherapy remains the most appropriate approach to intracranial Hodgkin's lymphoma (AU)

Evidence in medulloblastomas

Medulloblastoma is the most common infratentorial malignant tumour under 15 years of age. In recent protocols, the patients are stratified for treatment in standard risk or high risk, according to the clinical variables as age, localized or disseminated disease, degree of surgical resection and more recently expected biological behaviour based on retrospective and prospective studies of former samples analyzed. The objectives for future treatments are reduce morbidity without jeopardizing survival (AU)

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