scholarly journals Dysplastic Gangliocytoma: A Rare Example of Cerebellar Tumor with An Evident Genetic Profile (Cowden Syndrome)

2021 ◽  
Vol 11 (02) ◽  
pp. 33-37
Author(s):  
Javier Ortiz Rodríguez-Parets ◽  
Luis Miguel Chinchilla Tábora ◽  
Enrique Montero Mateos ◽  
Elisa Muñoz Torres ◽  
María Dolores Ludeña de la Cruz
Keyword(s):  
Cowden Syndrome ◽  
Genetic Profile ◽  
Cerebellar Tumor ◽  
Dysplastic Gangliocytoma

scholarly journals Rare Dysplastic Gangliocytoma of Cerebellum: A Case Report

2020 ◽  
Author(s):  
Nidhish Kumar ◽  
Sharvani Singh ◽  
Bipin Kumar
Keyword(s):  
Obstructive Hydrocephalus ◽  
Tertiary Care ◽  
Signs And Symptoms ◽  
Cowden Syndrome ◽  
Verbal Response ◽  
Cerebellar Hemisphere ◽  
Cancer Syndrome ◽  
Dysplastic Gangliocytoma ◽  
Significant Family History ◽  
Chief Complaints

Lhermitte and Duclos first described Dysplastic Gangliocytoma in 1920. Lhermitte Duclos Disease (LDD) is an extremely rare disorder of uncertain prognosis and pathogenesis. LDD is recognised as a part of Cowden Disease, which being an autosomal-dominant phacomatosis and cancer syndrome. Till date only about 225 cases of LDD have currently been reported in medical literature. It is most commonly seen in young adults with a peak incidence in third or fourth decade with signs and symptoms of cerebellar dysfunction or increased intracranial pressure leading to obstructive hydrocephalus. A 36-year-old female came to Neuromedicine Outpatient Department (OPD) in a Tertiary Care Superspecialty Hospital with chief complaints of headache and vomiting, difficulty in swallowing liquid food since two months with no significant family history. The patient’s general condition was not good with significant weakness on presentation. The patient was conscious, oriented with pulse rate of 78/bpm, blood pressure of 118/80 mm of Hg with bilateral clear chest with normal S1 S2 sound. The Glasgow Coma Scale (GCS) was found to be Eye response-4, Verbal response-5, Motor response-6. Magnetic Resonance Imaging (MRI) of patient showed large heterogeneous non-enhancing lesion involving left cerebellar hemisphere, vermis and cerebellar peduncle with widened cerebellar folia with a “Tigroid appearance”. A diagnosis of Cerebellar Gangliocytoma was made and was treated successfully with surgery and diagnostically proven with biopsy and immunohistochemistry. The background history of Cowden syndrome was not present in index case.

scholarly journals Lhermitte duclos disease: what to expect during surgery?

2021 ◽  
Vol 36 (1) ◽  
Author(s):  
Sanjeev Kumar ◽  
Debabrata Sahana ◽  
Amit Jain ◽  
Lavlesh Rathore ◽  
Manish Tawari ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Cowden Syndrome ◽  
Dysplastic Gangliocytoma ◽  
Radiological Features ◽  
Pathological Characteristics ◽  
Operating Surgeon

AbstractLhermitte and Duclos first described the dysplastic gangliocytoma of the cerebellum in 1920. In the last 100 years, its clinical presentation, radiological features, pathological characteristics, and association with Cowden syndrome have been well described. However, documentation of surgical experiences is lagging. We here describe intraoperative experience during the removal of the tumor, which could help the operating surgeon plan and mental makeup.

Resection of a Symptomatic Dysplastic Cerebellar Gangliocytoma: 2-Dimensional Operative Video

2019 ◽  
Vol 19 (2) ◽  
pp. E178-E178
Author(s):  
Tarek Y El Ahmadieh ◽  
Aaron R Plitt ◽  
Salah G Aoun ◽  
Toral Patel
Keyword(s):  
Video Recording ◽  
Mammalian Target Of Rapamycin ◽  
Lateral Position ◽  
Cowden Syndrome ◽  
Pten Gene ◽  
Third Ventriculostomy ◽  
Cerebellar Tumor ◽  
Video Footage ◽  
Suboccipital Craniotomy

Abstract Lhermitte–Duclos disease, also known as dysplastic cerebellar gangliocytoma, is a rare benign cerebellar tumor that is typically observed but may occasionally become symptomatic and requires surgical intervention. The condition is caused by a mutation in the phosphatase and tensin homolog (PTEN) gene, which results in dysregulation of the mammalian target of rapamycin pathway. A germline PTEN mutation results in multi-organ involvement and is termed Cowden syndrome. There is a scarcity of surgical videos in the published literature that demonstrate an intraoperative resection of this lesion and illustrate the pathology in Vivo. We present an operative video of a surgical resection of a symptomatic dysplastic cerebellar gangliocytoma in a 44-yr-old male patient who presented with a 3-mo history of progressive headaches and hydrocephalus. The patient underwent an endoscopic third ventriculostomy and, subsequently, a right suboccipital craniotomy for microsurgical resection of the mass. The procedure was performed with the patient in the lateral position. The microscope was positioned at the head of the bed and the stereotaxic system monitor on the patient's left side. The patient tolerated the procedure well and imaging obtained at 18 mo was negative for residual or recurrent disease. The patient gave written consent for video recording as part of the surgery informed consent. No identifiable images or video footage of the face are shown, and institutional review board approval was deemed unnecessary.

scholarly journals Lhermitte-Duclos Disease and Cowden Syndrome: A Case Report and Literature Review

2019 ◽  
Vol 38 (04) ◽  
pp. 319-323
Author(s):  
Mylena Miki Lopes Ideta ◽  
Mylla Christie Oliveira Paschoalino ◽  
Louise Makarem Oliveira ◽  
Nelson Brancaccio dos Santos ◽  
Marco Rodrigo Valdivia Sanz ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Posterior Fossa ◽  
Genetic Disorders ◽  
Mass Effect ◽  
Cowden Syndrome ◽  
Dysplastic Gangliocytoma ◽  
Expansive Lesion ◽  
Slow Growing ◽  
Cerebellar Symptoms

AbstractLhermitte-Duclos disease (LDD), also known as dysplastic gangliocytoma of the cerebellum, is a rare, usually benign, slow-growing tumor, that commonly affects patients aged 30 to 50 years-old. The manifestations of dysplastic cerebellar gangliocytoma are nonspecific and are related both to the mass effect produced by its growth and to the location of the lesion. Cerebellar symptoms such as ataxia are often present. In 40% of cases, the tumor is associated with Cowden syndrome, which is part of a group of genetic disorders called polypoid hamartoma complex. In this case report, the patient presented expansive lesion in the posterior fossa, compatible with LDD, associated with macrocephaly. These findings are considered major criteria for Cowden syndrome. When together, they confirm the diagnoses. To our knowledge, this is the first report of the association of LDD and Cowden syndrome in Brazil.

scholarly journals Cerebellar Dysplastic Gangliocytoma: Case Report

2020 ◽  
Vol 39 (03) ◽  
pp. 232-234
Author(s):  
Paulo Moacir Mesquita Filho ◽  
Katriane Susin ◽  
Luiza Rech Köhler ◽  
Leticia Bassani Devens ◽  
Daniela Schwingel ◽  
...  
Keyword(s):  
Case Report ◽  
Unknown Origin ◽  
Cerebellar Tumor ◽  
Rare Type ◽  
Dysplastic Gangliocytoma ◽  
Neurological Signs

AbstractLhermitte-Duclos disease (LDD), or cerebellar dysplastic gangliocytoma, is a rare type of cerebellar tumor, from unknown origin. Patients can be asymptomatic for several years, but there are usually imprecise neurological signs for long periods.

PREDICTIVE VALUE OF THE DYNAMIC DETERMINATION OF CIRCULATING TUMOR DNA ON PFS IN PATIENTS WITH EGFR MUTATED NSCLC, WITH OSIMERTINIB THERAPY

2020 ◽  
Vol 66 (2) ◽  
pp. 135-142
Author(s):  
Fedor Moiseenko ◽  
Mariya Stepanova ◽  
Nikita Volkov ◽  
Albina Zhabina ◽  
A. Myslik ◽  
...  
Keyword(s):  
Predictive Value ◽  
Molecular Genetic ◽  
Predictive Marker ◽  
Circulating Tumor Dna ◽  
Qualitative Assessment ◽  
Genetic Profile ◽  
T790m Mutation ◽  
Rare Mutations ◽  
Effect Of Therapy ◽  
Pcr Method

Aim: study of the predictive value of determining ctDNA during treatment with osimertinib in patients with NSCLC with EGFR mutation. Methods: The study included patients with metastatic EG-FR-associated NSCLC, in whom, with progression against the background of 1st - 2nd generation TKIs, the T790M mutation was detected. Patients received osimertinib therapy 80 mg/ day, daily, until progression. Before treatment, and then every 2 months, whole blood was taken to conduct a qualitative assessment of ctDNA in dynamics by the RT-PCR method. Results: From 2016 to 2019 in St. Petersburg Clinical Scientific and Practical Center of Specialized Types of Medical Care (Oncology), 22 patients were identified T790M associated progression of EGFR NSCLC. 81.9% (18/22) are women, 18.1% (4/22) are men. The average age is 61.2 years (50-75). 1/22 had smoking experience for more than 30 years. The molecular genetic profile in 16 is represented by ex19del, 5 L858R, 1 -a combination of rare mutations G719S+S768I. The effect of therapy was evaluated in 20/22 patients. PR and SD were registered in 9/20 (45%) and 10/20 (50%) patients, respectively. Median PFS - 16.7 months (cI 95%, 11,4-22,0). In 12/22 patients was observed the disappearance of ctDNA T790M after 2 months of osimertinib therapy. PFS is 18,9 months (95% CI, 14,8-19,7), in patients with no mutation detected in the second month of treatment compared with the group of patients in which the ctDNA was determined (PFS 8.0 months) (CI 95%, 4,2-11,8) (p=0.015). Correlation analysis did not reveal any clinical factors associated with the disappearance of ctDNA. Conclusions: The disappearance of ctDNA in plasma after 2 months of treatment with osimertinib is associated with an increase in PFS and can be considered as a predictive marker in patients with metastatic NSCLC EGFR T790M.

Immunogenetics of Celiac Disease: A Focus on Arab Countries

2020 ◽  
Vol 20 (4) ◽  
pp. 275-285 ◽  
Author(s):  
Nadin Younes ◽  
Salma Younes ◽  
Ola. A. Alsharabasi ◽  
Mohamed E. El Zowalaty ◽  
Ibrahim Mustafa ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Genetic Epidemiology ◽  
Arab World ◽  
Human Leukocyte ◽  
Epidemiological Studies ◽  
Arab Countries ◽  
Global Perspective ◽  
Genetic Profile ◽  
Leukocyte Antigen ◽  
Genetic And Environmental Factors

Celiac Disease (CD) is a complex immunogenic disease mainly triggered by gluten intake in genetically susceptible individuals with a prevalence of 1 in 100-300. CD results from the interplay between genetic and environmental factors. Genetic susceptibility is believed to play a prominent role in the pathogenicity of CD, mainly due to human leukocyte antigen (HLA)-related class II genes. Although CD is wellrecognized among Arab populations, there are few studies on the genetic epidemiology and prevalence of CD in the Arab countries. Therefore, the aim of this review was to highlight the importance of studying this disease in the Arab world in the context of a global perspective. Within the few studies published so far, it was found that Arab populations have a distinctive susceptibility genetic profile from other ethnic groups with the DQ2.5 and DQ8 genotypes that are considered the major genotypes that confer susceptibility among Arab patients with CD. Our findings will pave the way to perform further epidemiological studies that will help identify potential therapeutic targets against CD among Arab patients that are diagnosed with CD.

scholarly journals Cerebellar venous thrombosis mimicking a cerebellar tumor due to polycythemia vera: a case report

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hongfeng Wen ◽  
Di Jin ◽  
Yu Chen ◽  
Bin Cui ◽  
Tianyi Xiao
Keyword(s):  
Venous Thrombosis ◽  
Polycythemia Vera ◽  
Delayed Diagnosis ◽  
Janus Kinase ◽  
Cerebellar Hemisphere ◽  
Cerebellar Tumor ◽  
Cortical Vein ◽  
Vein Thrombosis ◽  
Cortical Vein Thrombosis ◽  
V617f Mutation

Abstract Background Cerebral venous thrombosis (CVT) occurs rarely in the general population and is frequently associated with confused clinical findings and delayed diagnosis. Isolated cerebellar cortical vein thrombosis is a very rare phenomenon. Case presentation This report describes a case with CVT, which is manifested as space-occupying lesions of the cerebellar hemisphere and mimics a cerebellar tumor at the beginning. The diagnosis of CVT was finalized given the laboratory and brain biopsy findings. The etiology may be related to polycythemia vera with Janus Kinase 2 V617F mutation. Conclusion Isolated cerebellar vein thrombosis should be considered when swelling and enhancing cerebellar lesions are detected. Polycythemia vera, especially with a positive JAK2 V617F mutation, may be a rare risk factor for CVT.

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