Expression of somatostatin receptors in hemangioblastomas associated with von Hippel-Lindau disease as a novel diagnostic, therapeutic, and follow-up opportunity: A case report and literature review.

Hemangioblastomas associated with von Hippel-Lindau (VHL) disease are frequently multiple and recur during prolonged follow-up. Currently, no systemic treatment is available for these tumors. Recent studies have shown the expression of somatostatin receptors in these types of hemangioblastomas. Notably, increased somatostatin receptor expression in a tumor, as determined by peptide-receptor radionuclide imaging, is a predictive factor of response to treatment with somatostatin analogs and peptide-receptor radionuclide therapy. The aim of this study was to describe the case of a patient with increased expression of somatostatin receptors in a suprasellar hemangioblastoma associated with VHL disease and conduct a literature review on somatostatin receptor expression in patients with VHL-associated hemangioblastomas. We describe herein the case of a 51-year-old man with VHL disease who had a suprasellar hemangioblastoma detected on magnetic resonance imaging. Peptide-receptor radionuclide imaging using gallium-68-DOTATOC (68Ga-DOTATOC) identified increased expression of somatostatin receptors in the suprasellar hemangioblastoma, along with multiple pancreatic neuroendocrine tumors and bilateral pheochromocytomas. The patient was treated for 1 year with lanreotide, a somatostatin analog. A repeat 68Ga-DOTATOC 1 year after starting lanreotide revealed decreased radiotracer uptake by the hemangioblastoma, consistent with a metabolic response. The presence of somatostatin receptors in hemangioblastomas associated with VHL disease is a novel finding. The decreased expression of these receptors after treatment with a somatostatin analog, as described in the present case, positions the somatostatin receptor as a new target for novel diagnostic, therapeutic, and follow-up opportunities in patients with VHL disease.

Lhermitte-Duclos Disease in Pediatric Population: Report of 2 Cases.

INTRODUCTION: Lhermitte-Duclos disease (LDD), also known as dysplastic cerebellar gangliocytoma, is an uncommon disorder in children, characterized by being a slow-growing lesion of the posterior fossa, which mainly affects the granular cell layer of the cerebellar parenchyma and may be associated with other multiple hereditary hamartomas and neoplasms. CASE PRESENTATION: We report 2 cases of LDD in pediatric patients and describe clinical symptoms and radiological and histopathological characteristics. In addition, we analyzed the relation to Cowden Syndrome based on the International Cowden Syndrome Consortium Operational Criteria and the most updated guidelines by the National Comprehensive Cancer Network (NCCN Guidelines Version 1.2020). CONCLUSION: LDD is a very rare disease in childhood but should be considered in the differential diagnosis of posterior fossa lesions. LDD can mimic low-grade glial tumors or infectious diseases. Patients develop late clinical manifestations due to the slow-growing pattern, and conservative treatment with outpatient follow-up may be an option in asymptomatic children.

Medulloblastoma during pregnancy: Hormone-mediated association? Report of 2 cases.

OBJECTIVE: To report two rare cases of medulloblastoma in pregnant patients and a review of the literature. MATERIAL AND METHODS: Report of patients diagnosed with medulloblastoma during their pregnancies, who were treated with surgery and adjuvant therapy. We also reviewed other cases reported in the literature and the association made with hormonal receptors. RESULTS: Brain tumors in coincidence with pregnancy are unusual, and the incidence of medulloblastoma in pregnancy is still rarer. We found 8 cases of medulloblastomas diagnosed during pregnancy. Reports suggest that hormonal changes and increases in the levels of growth factors and angiogenic factors during pregnancy influence the rate of growth of brain tumors (not only medulloblastomas but also meningiomas or glial tumors). CONCLUSIONS: The uniqueness of these cases is their rarity. The symptoms are usually masked by the symptoms of pregnancy. At present, there is still little evidence regarding the pathogenesis and treatment of medulloblastoma in pregnancy.

Melanocitoma meníngeo del ángulo pontocerebeloso: claves imagenológicas para su abordaje / Cerebellopontine meningeal melanocytoma: keys for imaging diagnostic approach

Resumen: Las lesiones del ángulo pontocerebeloso (APC) representan el 6 al 10% de las neoplasias intracraneales, siendo los schwannomas vestibulares y meningiomas los más comunes. Sin embargo, hasta el 15% pueden ser otras lesiones, entre ellas las derivadas a partir de restos de células melanocíticas presentes en las leptomeninges. El diagnóstico diferencial de las patologías tumorales del APC es extenso, siempre teniendo en cuenta las lesiones más comunes. Sin embargo, cuando las características radiológicas no son las esperadas, el enfoque debe orientarse hacia las lesiones inusuales, poniendo en contexto las diferentes estirpes celulares que pueden dar origen a las neoplasias en esta localización, como las neoplasias melanocíticas. Se presenta el caso de un masculino de 74 años con síndrome cerebeloso de tórpida evolución, al cual se le realiza RM de cerebro contrastada, identificando una lesión de base dural en el APC izquierdo, con hiperintensidad de señal en T1 e hipointensidad en T2, atípico para las lesiones más comunes en esta región, que sugiere su contenido melanocítico.

Abstract: Cerebellopontine angle tumors (CPA) represent approximately 6 to 10% of intracranial tumors. Vestibular Schwannomas and meningiomas are the most common, however up to 15% can be of other origin, including from melanocytes derived from the neural crest. The differential diagnosis of CPA pathologies is extensive, always taking into account the most common ones. However, if the radiological characteristics are not the expected, the approach should be directed towards unusual lesions, putting into context the different cell lines that can give rise to the neoplasm at this location, such as melanotic neoplasms. We present a case of a 74-year-old male, who presented with a cerebellar syndrome. Due to an atypical clinical evolution, a contrast enhanced head MRI was performed, revealing a dural based tumor on the left CPA, which was hyperintense on T1 and hypointense on T2 weighted sequences, which is not expected from the common lesions at this region and suggested it's melanotic content.

Metachronic Breast and Cerebellar Neoplasm in a Young Patient.

Several factors trigger the development of genetic mutations that are responsible for causing a neoplasm. Medulloblastoma is a malignant and invasive cerebellar neoplasm, that affects children and young adults. Mucinous carcinoma is a special type of breast cancer. Being a special atypical subtype of invasive carcinoma, it most frequently affects women of advanced age and represents 1 to 7% of all breast cancers. The reported case aims to show the rarity of the occurrence of desmoplastic medulloblastoma and mammary mucinous carcinoma in a young patient in a short period of time, in different sites, without direct anatomical attachment and without occurrence of metastasis. Initially, this patient had a desmoplastic medulloblastoma and was treated with lumpectomy and radiotherapy. After 13 months, the patient was diagnosed with a mucinous breast carcinoma, underwent mastectomy, adjuvant chemotherapy and is currently undergoing endocrinotherapy. We conclude, based on the metachronous characteristic of the neoplasia and clinical characteristics, that the patient is likely to have Li-Fraumeni syndrome, an autosomal dominant disease with mutation of the TP53 gene, which is the the main involved. Because the patient does not present all the characteristics of the phenotype of the syndrome, she can thus be classified as having Li-Fraumeni variant or Li-Fraumeni-like syndrome.

Diversos fatores desencadeiam o desenvolvimento de mutações genéticas que são responsáveis por originar uma neoplasia. O meduloblastoma é uma neoplasia cerebelar maligna e invasiva que acomete crianças e adultos jovens. O carcinoma mucinoso é um tipo de câncer de mama especial por ser um subtipo atípico de carcinoma invasivo, que acomete com maior frequência mulheres de idade avançada e representa entre 1 a 7% do total de neoplasias mamárias. O caso relatado tem como objetivo mostrar a raridade da ocorrência do meduloblastoma desmoplásico e carcinoma mucinoso mamário em uma paciente jovem em um curto período de tempo, em diferentes sítios sem ligação anatômica direta e sem ocorrência de metástase. Inicialmente, esta paciente possuía um meduloblastoma desmoplásico e foi tratada com tumorectomia e radioterapia. Após 13 meses, a paciente foi diagnosticada com carcinoma mucinoso de mama, sendo submetida a mastectomia, quimioterapia adjuvante e atualmente está sendo tratada com endocrinoterapia. Concluímos, com base na característica metacrônica da neoplasia e características clínicas, que a paciente apresenta a síndrome de Li-Fraumeni, doença autossômica dominante com mutação do gene TP53, que é o principal gene envolvido nesta síndrome. Por não apresentar as características completas do fenótipo da síndrome, a paciente pode assim ser classificada como portadora de uma variante da síndorme de Li-Fraumeni ou síndrome do tipo Li-Fraumeni.

Metachronic breast and cerebellar neoplasm in a young patient / Neoplasias mamária e cerebelar metacrônicas em uma paciente jovem

Abstract Several factors trigger the development of genetic mutations that are responsible for causing a neoplasm. Medulloblastoma is a malignant and invasive cerebellar neoplasm, that affects children and young adults. Mucinous carcinoma is a special type of breast cancer. Being a special atypical subtype of invasive carcinoma, it most frequently affects women of advanced age and represents 1 to 7% of all breast cancers. The reported case aims to show the rarity of the occurrence of desmoplastic medulloblastoma and mammary mucinous carcinoma in a young patient in a short period of time, in different sites, without direct anatomical attachment and without occurrence of metastasis. Initially, this patient had a desmoplastic medulloblastoma and was treated with lumpectomy and radiotherapy. After 13 months, the patient was diagnosed with a mucinous breast carcinoma, underwent mastectomy, adjuvant chemotherapy and is currently undergoing endocrinotherapy. We conclude, based on the metachronous characteristic of the neoplasia and clinical characteristics, that the patient is likely to have Li-Fraumeni syndrome, an autosomal dominant disease with mutation of the TP53 gene, which is the the main involved. Because the patient does not present all the characteristics of the phenotype of the syndrome, she can thus be classified as having Li-Fraumeni variant or Li-Fraumeni-like syndrome.

Resumo Diversos fatores desencadeiam o desenvolvimento de mutações genéticas que são responsáveis por originar uma neoplasia. O meduloblastoma é uma neoplasia cerebelar maligna e invasiva que acomete crianças e adultos jovens. O carcinoma mucinoso é um tipo de câncer de mama especial por ser um subtipo atípico de carcinoma invasivo, que acomete com maior frequência mulheres de idade avançada e representa entre 1 a 7% do total de neoplasias mamárias. O caso relatado tem como objetivo mostrar a raridade da ocorrência do meduloblastoma desmoplásico e carcinoma mucinoso mamário em uma paciente jovem em um curto período de tempo, em diferentes sítios sem ligação anatômica direta e sem ocorrência de metástase. Inicialmente, esta paciente possuía um meduloblastoma desmoplásico e foi tratada com tumorectomia e radioterapia. Após 13 meses, a paciente foi diagnosticada com carcinoma mucinoso de mama, sendo submetida a mastectomia, quimioterapia adjuvante e atualmente está sendo tratada com endocrinoterapia. Concluímos, com base na característica metacrônica da neoplasia e características clínicas, que a paciente apresenta a síndrome de Li-Fraumeni, doença autossômica dominante com mutação do gene TP53, que é o principal gene envolvido nesta síndrome. Por não apresentar as características completas do fenótipo da síndrome, a paciente pode assim ser classificada como portadora de uma variante da síndorme de Li-Fraumeni ou síndrome do tipo Li-Fraumeni.

Childhood Medulloblastoma Revisited.

Medulloblastoma is the most common malignant solid tumor in childhood and the most common embryonal neuroepithelial tumor of the central nervous system. Several morphological variants are recognized: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity. Recent advances in transcriptome and methylome profiling of these tumors led to a molecular classification that includes 4 major genetically defined groups. Accordingly, the 2016 revision of the World Health Organization's Classification of Tumors of the Central Nervous System recognizes the following medulloblastoma entities: Wingless (WNT)-activated, Sonic hedgehog (SHH)-activated, Group 3, and Group 4. This transcriptionally driven classification constitutes the basis of new risk stratification schemes applied to current therapeutic clinical trials. Because additional layers of molecular tumor heterogeneities are being progressively unveiled, several clinically relevant subgroups within the 4 major groups have already been identified. The purpose of this article is to review the recent basic science and clinical advances in the understanding of "medulloblastomas," and their diagnostic imaging correlates and the implications of those on current neuroimaging practice.

Hypertrophic olivary degeneration in children after posterior fossa surgery. An underdiagnosed condition.

BACKGROUND: Hypertrophic olivary degeneration (HOD) is a rare transsynaptic form of degeneration occurring after injury to the dentato-rubro-olivary pathway ("Guillain-Mollaret triangle"). The majority of studies have described HOD resulting from posterior fossa (PF) hemorrhage or infarction. HOD in patients undergoing PF surgery has not been well characterized. These lesions are rare and symptomatic children with HOD are even more uncommon. The purpose of this study was to evaluate HOD that develops after PF operations in children. MATERIALS AND METHODS: A literature review was carried out describing 37 pediatric cases of HOD in 13 articles. In addition, two new cases of our own experience were included. CONCLUSIONS: HOD is a rare complication related after PF tumors surgery and symptoms may be misdiagnosed with pediatric cerebellar mutism syndrome. Children with HOD usually do not develop palatal tremor but ataxia is common.

Linfoma primario del sistema nervioso central: el aporte de las técnicas convencionales de diagnóstico por imágenes / Primary CNS lymphoma: The contribution of conventional diagnostic imaging techniques

El linfoma primario del sistema nervioso central (LPSNC) tiene una presentación predecible en las imágenes convencionales, tanto en pacientes inmunocompetentes como inmunodeprimidos. Analizamos las características imagenológicas que nos permiten reconocer ambos casos y realizamos una revisión de las formas clínicas más relevantes del LPSNC, así como su aspecto en las imágenes obtenidas con técnicas convencionales del Diagnóstico por Imágenes, basándonos en un análisis retrospectivo de nuestros archivos institucionales y la literatura actual. La revisión abarca todas las presentaciones relevantes de esta enfermedad poco frecuente para permitir un diagnóstico temprano, crucial para el adecuado tratamiento.

Primary central nervous system lymphoma (PCNSL) has a predictable imaging appearance on conventional imaging in immunocompetent and immunocompromised patients. The imaging features that enable both types of patients are discussed. The extensive imaging review presented here of the most relevant PCNSL clinical presentations and their imaging appearances using conventional imaging techniques is based on a retrospective analysis of our institutional files and on the current literature. The review covers all of the relevant appearances of this uncommon disease to enable early diagnosis, which is crucial for proper patient management.

Dysplastic Cerebellar Epilepsy: Complete Seizure Control Following Resection of a Ganglioglioma.

Subcortical epilepsy has been a controversial issue, partially settled by evidence showing seizure generation in hypothalamic hamartomas and also by reports of seizures caused by cerebellar lesions. We report 4-year-old girl with right hemifacial seizures and autonomic phenomena, in whom MRI showed an irregular mass in the right cerebellar peduncle. Despite several unremarkable video-EEG recordings, seizure origin in the lesion was hypothesized. Complete resection was feasible, histopathology showed a ganglioglioma, and she has been seizure free for 3 years. A fine line separates these developmental tumors from focal cortical dysplasia, and the homogeneous presentation of this entity led us to propose the terminology dysplastic cerebellar epilepsy.

[Size and proliferative index correlation in acoustic neuromas]. / Associação entre tamanho e potencial proliferativo em neurinomas do acústico.

Acoustic neuromas are the most common tumors in the cerebellopontine angle. The molecular mechanisms involved in generation and growth of these tumors are not completely elucidated. Many radiological, clinic and immunohistochemistry data were correlated to tumor growth. We studied 11 acoustic neuromas surgically treated at Hospital São Paulo/Unifesp and correlated clinical and radiological data with proliferative index (Ki-67). The size of the tumors were positively correlationated with proliferative index. No other correlation had statistic significativity.

Medulloblastoma in adults: a series from Brazil.

We retrospectively reviewed 15 adult patients (11 males, median age 34 years; range 23-48) who had been treated and followed in our Institution since 1991 from the time of diagnosis until death or last follow-up in December 2001. Headache was the most frequent symptom (93%). The tumor was hemispheric in 11 patients. Complete resection was achieved in eight. CSF in 12 patients and craniospinal MRI in 6 did not show metastatic disease. Two patients refused adjuvant treatment and died with progressive disease. Thirteen patients received adjuvant craniospinal radiotherapy and 11 systemic chemotherapy. After initial treatment only 2 of the 13 patients relapsed in the posterior fossa. Recurrence was probably related to sub-optimal radiotherapy planning: inadequate low dose in the posterior fossa (37.5 Gy) and long delay in initiating treatment. Two of the 13 patients that received adjuvant treatment died: one from meningitis, and one from recurrent disease. Eleven patients remained alive, and disease-free with Karnofsky performance status ranging 80-100. The median overall survival was not reached after a median follow-up of 5.6 years (range 0.7-10.8 years). Estimated 1-, 5- and 10-year overall survival rates were 86.7%, 72.7%, and 72.7%, respectively. Adult medulloblastoma was predominant in males and the majority of patients had hemispheric tumors. Long-term survival was not uncommon. Although chemotherapy may be useful and well tolerated, radiotherapy remains the mainstay adjuvant treatment as suggested by our two recurrences associated with a delay or inadequate dose.

Gamma probe-assisted brain tumor microsurgical resection: a new technique.

OBJECTIVES: The pioneering performance of gamma probe-assisted surgery (GPAS) for brain tumors, aiming not only an improvement of tumor detection, but mainly assurance of its complete removal and the study of the usual distribution of the 99mTc-MIBI in the brain SPECT of normal individuals. METHOD: Patient's informed consent and demonstration of the tumor by the preoperative MIBI SPECT were the inclusion criteria adopted for GPAS, which was performed in one patient with a right parietal lobe metastatic tumor. The radiotracer (99mTc-MIBI) was injected in a peripheral vein 5 hours before the operation. A tumor to-normal tissue count ratio equal to or greater than 2/1 was considered indicative of tumor. MIBI SPECT was performed in five normal individuals in a pilot study. RESULTS: The gamma probe greatly facilitated intraoperative tumor detection (tumor to-normal brain count ratio was 5/1) and indicated a small piece of residual tumor after what was thought to be a complete tumor removal, allowing its resection, which, otherwise, would have been left behind. Postoperative CT confirmed complete tumor resection. The MIBI SPECT in normal individuals showed an increased uptake by the hypophisis, choroid plexus, skull, scalp and salivary glands and absence of uptake by the normal brain tissue. There were no complications. CONCLUSION: GPAS proved to be, in this single case, a safe and reliable technique to improve brain tumor detection and to confirm the presence or absence of residual tumor.

Diagnóstico tomográfico de los tumores endocraneales / Computed tomographic evaluation of brain neoplasms

De 14.386 estudios tomográficos realizados entre enero de 1989 y junio de 1992, 7.146 fueron de cerebro. Dentro de este grupo, 390 pacientes presentaron patología tumoral encefálica. De 130 pacientes se obtuvo confirmación histológica del tumor, correlacinando los datos obtenidos de acuerdo a edad, sexo y localización de la lesión y las variantes histológicas halladas

[Oligodendroglioma of the cerebellopontine angle: 16 years' course. Review of the literature and considerations on the pathology]. / Oligodendroglioma do ângulo ponto cerebelar: evolução de 16 anos. Revisão da literatura e considerações sobre a patologia.

The authors after a meticulous bibliography research have found 43 cases of oligodendrogliomas in the posterior fossa. Out of these 43 cases they came to know that two of them were located in the cerebello pontine angle. The authors describe one more case of this pathology in this rare localization and call attention to the fact that the evolution of this case has been confirmed during the last sixteen years.

[Developmental Gerstmann syndrome associated with cerebellar neoplasm. Report of a case and review of the literature]. / Sindrome de Gerstmann de desenvolvimento associada a neoplasia cerebelar. Relato de um caso e revisão da literatura

A Developmental Gerstmann syndrome in a 7 years-old-boy with hyperactivity, short attention span, acalculia, agraphia, right-left confusion, finger agnosia and constructional apraxia is reported. An initial trial with methylphenidate was done with good improvement regarding hyperactivity, attention span and constructional apraxia. In the clinical course developed a cerebellar syndrome and intracranial hypertension. Surgical exploration of the cerebellum discovered a medulloblastoma. The author believes that this is the first described association of Developmental Gerstmann syndrome and cerebellar neoplasia. The clinical findings, the etiology and the topography of the Gerstmann syndrome are discussed.