Browse
Submit Data
Databases
API
Help

Dataset Information

19 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

ABSTRACT: Medulloblastoma is one of the most common pediatric central nervous system malignancies worldwide, and it is characterized by frequent leptomeningeal metastasizing. We report a rare case of primary leptomeningeal medulloblastoma of an 11-year-old Caucasian girl with a long-term disease history, non-specific clinical course, and challenges in the diagnosis verification. To date, 4 cases of pediatric primary leptomeningeal medulloblastoma are reported, and all of them are associated with unfavorable outcomes. The approaches of neuroimaging and diagnosis verification are analyzed in the article to provide opportunities for effective diagnosis of this disease in clinical practice. The reported clinical case of the primary leptomeningeal medulloblastoma is characterized by MR images with non-specific changes in the brain and spinal cord and by 18FDG-PET/CT images with diffuse heterogeneous hyperfixation of the radiopharmaceutical along the whole spinal cord. The immunohistochemistry and next-generation sequencing analyses of tumor samples were performed for comprehensive characterization of the reported clinical case.

SUBMITTER: Morgacheva D

PROVIDER: S-EPMC9309486 | biostudies-literature |

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Similar Datasets

Primary Pulmonary Chondrosarcoma: A Case Report and Literature Review.

Project description:Chondrosarcomas are tumors consisting of osseous or cartilaginous stroma. They are not an uncommon pathology; however, primary pulmonary chondrosarcomas arising in lung parenchyma are extremely rare, with few cases published in literature. Herein, we present a case with biopsy-proven primary pulmonary chondrosarcoma after exclusion of primary origin elsewhere. In the case presented in this report, we demonstrate the clinical presentations, pulmonary function tests, and the radiological findings of this rare tumor in a young male patient. Further, we present a brief review of existing literature for patients with similar pathology.

| S-EPMC7049877 | biostudies-literature

A rare case of leptomeningeal carcinomatosis in a patient with uveal melanoma: case report and review of literature.

Project description:Uveal melanoma is a rare subtype of melanoma, accounting for only 3-5% of all melanoma cases in the USA. Although fewer than 4% of uveal melanoma patients present with metastasis at diagnosis, approximately half will develop metastasis, more than 90% of which disseminate to the liver. Infrequently, a number of malignancies can lead to leptomeningeal metastases, a devastating and terminal complication. In this case report, we present an exceedingly rare case of a patient with uveal melanoma who developed leptomeningeal carcinomatosis as the sole site of metastasis. After conventional methods to diagnose leptomeningeal carcinomatosis fell short, a diagnosis was confirmed on the basis of identification and genomic analysis of melanoma circulating tumor cells in the cerebrospinal fluid.

| S-EPMC5502096 | biostudies-literature

Urticaria vasculitis in a child: a case report and literature review.

Project description:Annular urticarial lesions in a child must establish a main differential diagnosis with urticaria multiforme, common urticaria, acute hemorrhagic edema of infancy, erythema marginatum, erythema annulare centrifugum, annular erythema in childhood, erythema multiforme, Sweet's syndrome, Schönlein-Henoch purpura, erythematosus lupus, several systemic vasculitis, and serum sickness.

| S-EPMC5538063 | biostudies-other

Multiple primary malignant neoplasms: A case report and literature review.

Project description:Until recently, few cases of three or more malignant tumors in one patient have been reported. Owing to the high incidence rate of these tumors, the improvement in cancer diagnosis and treatment, and the extension of patient survival time, the incidence of reported multiple primary malignant neoplasms has gradually increased. The present study reported the case of a 57-year-old man with non-small cell lung cancer combined with B-Raf proto-oncogene serine/threonine kinase V600E mutation, gastrointestinal stromal tumors and lumbar vertebral malignant mucinous sarcoma. The pathogenesis, diagnosis and treatment of these three malignancies are discussed and previous studies are also reviewed. The aim of the study was to analyze the genetic mutations associated with multiple primary malignant tumors and to discuss whether those mutations with unknown functional significance could be used as therapeutic indicators. This case report will serve as a reference for future treatment of such patients.

| S-EPMC6757307 | biostudies-literature

Case Report and Literature Review: Primary Pulmonary NUT-Midline Carcinoma.

Project description:Nuclear protein of the testis (NUT) carcinoma is a very rare and aggressive carcinoma characterized by chromosomal rearrangement. NUT-midline carcinoma (NMC) can occur anywhere in the body, but most of the tumors are found in the midline anatomic structure or mediastinum. Pulmonary-originated NMC is extremely rare and often difficult to be distinguished from other poorly differentiated tumors, making the diagnosis awfully challenged in clinical practice. There are less than 100 cases of NUT carcinoma reported so far. In this study, the diagnosis and molecular mechanisms of reported NUT carcinoma cases were reviewed. Furthermore, a case of primary pulmonary NUT-midline carcinoma and its pathological features was reported. The process of pathological identification and genomic analysis for establishing the diagnosis was discussed. We found that NUT carcinoma could be identified by combining CT, H&E staining, immunohistochemistry (IHC), and molecular tests. The development of NUT carcinoma might be associated with mutation of MYC, p63, and MED24 genes and the Wnt, MAPK, and PI3K signaling pathways. Our study provided a detailed molecular mechanistic review on NMC and established a procedure to identify pulmonary NMC.

| S-EPMC8435908 | biostudies-literature

Primary pituitary neuroendocrine tumor: Case report and literature review.

Project description:Neuroendocrine tumors (NET) originate from the diffuse neuroendocrine system. These can arise in almost every organ of the body, although they are most commonly found in the gastrointestinal tract and respiratory system. The skull base and sellar region are extremely rare sites for neuroendocrine carcinoma. Consequently, in this case, both diagnosis and definition of surgical goals, as well as further treatment strategies were challenging.A 65-year-old woman was admitted to our Neurosurgery Department with a rapidly progressive visus reduction, drowsiness, polyuria, and polydipsia. Neuroimaging showed a sellar/suprasellar mass (diameter of 2 cm) with a heterogeneous signal compressing the optic chiasm and extending laterally toward the cavernous sinus. Differential diagnosis based on imaging included pituitary macroadenoma or metastasis. The patient underwent endoscopic endonasal transsphenoidal surgery. A total resection of the mass was impossible because of the infiltration of the optic chiasm and the intraoperative histological diagnosis of malignant epithelial neoplasm. Further histological evaluation revealed that the lesion was a NET with no other primary or metastatic sites detectable. Subsequently, the patient was successfully treated with fractioned stereotactic radiotherapy and polychemotherapy. Four years after the surgery, follow-up magnetic resonance imaging showed stability of the residual disease. Neurologic examination revealed a complete visual recovery.Primary pituitary NET, though rare, should be included in the differential diagnosis of sellar lesions. A multimodality treatment approach is needed. Finally, the present case highlights, that in the case of a pituitary lesion infiltrating the optic chiasm, including NET, the endoscopic endonasal transsphenoidal subtotal resection followed by fractioned stereotactic radiotherapy and chemotherapy may represent an effective and safe choice of treatment.

| S-EPMC5473081 | biostudies-other

Salvage Re-irradiation Options in Adult Medulloblastoma: A Case Report and Review of the Literature.

Project description:BACKGROUND/AIM:Medulloblastoma is a rare tumor of adult age, while it occurs more frequently in children. Given the rarity, there is a lack of evidence for the treatment of recurrent disease. Few data are available about salvage re-irradiation collecting very heterogeneous series. CASE REPORT:A 51-year-old male presented with headache, nausea, double vision, and gait disorders. A contrast-enhanced brain-MRI showed the presence of multifocal medulloblastoma. After surgery, adjuvant craniospinal radiotherapy was performed, chemotherapy was stopped due to toxicity. After 27 months, a new MRI and a Methionine-PET revealed a late pontocerebellar relapse; multidisciplinary board decided for a SBRT treatment. The second course of RT was well tolerated and 14 months later, the patient is alive in good general conditions, with no evidence of disease. CONCLUSION:Our experience supports the use of salvage stereotactic radiotherapy as a safe and effective treatment option.

| S-EPMC7279819 | biostudies-literature

ALK-TPM3 rearrangement in adult renal cell carcinoma: report of a novel case showing misleading TFE3 expression and loss of chromosome 3 and literature review

Project description:We report a case of a 55 years old women who present a ALK associated renal cell carcinoma, with 3p deletion and measling of TFE3 expression. With CGH analysis and FISH we identify the rearrangment of ALK with TPM3

2017-03-24 | GSE96980 | GEO

Roseomonas mucosa bacteremia in a neutropenic child: A case report and literature review.

Project description:Roseomonas species is rarely found to be pathogenic to humans and there are few clinical cases that have been described in the literature. We report a case of Roseomonas mucosa bacteremia that involved a 9-year-old Japanese boy who was in a condition of febrile neutropenia caused by chemotherapy for cerebellar medulloblastoma. Conventional phenotyping failed to identify the organism; however, genetic analysis using 16S rDNA sequencing confirmed the pathogen to be R. mucosa. The patient recovered following treatment by meropenem without any complications. A literature review of pediatric cases of Roseomonas bacteremia identified 12 other documented cases, and these revealed that a common clinical situation for the infection is an immunocompromised state with malignancy and/or an indwelling intravenous catheter. Because of the low number of cases, the overall picture of Roseomonas bacteremia in children remains to be elucidated; however, the prognosis of the infection appears to be satisfactory.

| S-EPMC6249398 | biostudies-literature

A Child with Seckel Syndrome and Arterial Stenosis: Case Report and Literature Review.

Project description:BackgroundSeckel syndrome is a rare genetic disorder with autosomal recessive inheritance. It is characterized by dysmorphic features, intrauterine and postnatal growth restriction, microcephaly and mental retardation. Although cardiovascular complications are not prevalent in this syndrome, severe sinus bradycardia, hypertension and brain vasculopathy are reported. Here, for the first time, we describe a case of lower extremity arterial occlusion in a case of Seckel syndrome.Case presentationAn 8-year-old girl with the characteristic features of Seckel syndrome was admitted to the children's hospital with the complaint of left lower extremity pain and a deep ulcer on her left shin. On examination, the left extremity was cooler than the other side, with a bluish color. Dorsalis pedis and popliteal artery pulses were not palpable on the left. A wound measuring 3 by 5 cm with gangrenous margins was visible on the anterior surface of the left leg. Severe stenosis in the left superficial femoral artery was reported on angiography. Considering the lean body of the patient, angioplasty was not possible and conservative wound care, analgesic drugs and aspirin were recommended.ConclusionClinicians should be suspicious of vascular complications in patients with Seckel syndrome, even in the absence of any other risk factors.

| S-EPMC7234957 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data