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American Journal of Medical Genetics.... Apr 2015Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with an unknown etiology. Since 1970, around 60 cases have been reported in English literature.... (Review)
Review
Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with an unknown etiology. Since 1970, around 60 cases have been reported in English literature. ECCL is usually classified by cutaneous lesions and non-progressive intracranial or spinal lipomas; however three cases of ECCL associated with low grade glioma (LGG) have been described. We report on the fourth case of LGG in a patient with ECCL; a grade II pilocytic astrocytoma with pilomyxoid features in a 3-month-old male, the youngest in literature.
Topics: Astrocytoma; Combined Modality Therapy; Eye Diseases; Humans; Infant; Lipomatosis; Male; Neurocutaneous Syndromes; Treatment Outcome
PubMed: 25705862
DOI: 10.1002/ajmg.a.37017 -
Neurosurgical Review Mar 2019Pilocytic astrocytomas (PAs) are seemingly innocuous and benign tumors. However, in recent times, many case series have documented high rates of hemorrhage in these... (Review)
Review
Pilocytic astrocytomas (PAs) are seemingly innocuous and benign tumors. However, in recent times, many case series have documented high rates of hemorrhage in these neoplasms. We hereby provide a detailed analysis on hemorrhagic pilocytic astrocytomas (HPA) in adults and report one such case managed at our institute. In addition, salient differences between adult and pediatric hemorrhagic PA have been briefed. Hospital records were retrieved for our case. Literature review was conducted by searching online databases for the following keywords-pilocytic astrocytoma, hemorrhage, cranial, pediatric, and adults. A 22-year-old male with neurofibromatosis-1 presented with sudden onset headache and vomiting of 3-day duration. Imaging revealed a lobulated suprasellar lesion with obstructive hydrocephalus. Pterional transsylvian approach and subtotal resection were performed. Histopathology showed features of PA with bleed. Including current report, a total of 26 cases have been reported. Mean age was 37 years (21-75 years) and they are mostly found in the third decade. The male:female ratio was 2.1:1. Sudden headache with vomiting was the most common symptoms. Tumors were mostly located in cerebral hemispheres (n = 9/34.6%), hypothalamus/suprasellar region (n = 7/27%), and cerebellum (n = 6/23%). Two-thirds underwent gross total excision. There were two deaths and except one case, no recurrences were reported in those with available follow-ups. Hemorrhagic presentation of a PA is rare, although more commonly seen in adults and most commonly located in cerebral hemispheres. Maximal safe resection is the standard treatment and recurrences are rare.
Topics: Astrocytoma; Brain Neoplasms; Humans; Intracranial Hemorrhages; Neoplasm Recurrence, Local; Neurosurgery
PubMed: 28980149
DOI: 10.1007/s10143-017-0915-z -
Neurosurgical Focus Jul 2002A case of recurrent pilocytic astrocytoma with leptomeningeal dissemination (LMD) is described. A cerebellar tumor was diagnosed in a 3-year-old boy, in whom resection... (Review)
Review
A case of recurrent pilocytic astrocytoma with leptomeningeal dissemination (LMD) is described. A cerebellar tumor was diagnosed in a 3-year-old boy, in whom resection was performed. When the boy was 6 years of age, recurrence was treated with surgery and local radiotherapy. At age 13 years, scoliosis was present, but the patient was asymptomatic. Twelve years after initial surgery LMD was demonstrated in the lumbar spinal region without recurrence of the original tumor. This tumor also was subtotally removed. During the procedure, a hematoma was observed adjacent to the tumor, but the border was clear. Histological examination of the spinal cord tumor showed features similar to those of the original tumor. There were no tumor cells in the hematoma. The MIB-1 labeling index indicated no malignant change compared with the previous samples. Radiotherapy was performed after the surgery. The importance of early diagnosis and management of scoliosis is emphasized, and the peculiar pattern of dissemination of the pilocytic astrocytoma and its treatment are reviewed.
Topics: Arachnoid; Astrocytoma; Cerebellar Neoplasms; Cerebral Hemorrhage; Child, Preschool; Hematoma; Humans; Magnetic Resonance Imaging; Male; Meningeal Neoplasms; Neoplasm Seeding; Pia Mater; Scoliosis; Tomography, X-Ray Computed
PubMed: 15916413
DOI: 10.3171/foc.2002.13.1.7 -
PloS One 2021Intravoxel incoherent motion (IVIM) imaging concurrently measures diffusion and perfusion parameters and has potential applications for brain tumor classification....
INTRODUCTION
Intravoxel incoherent motion (IVIM) imaging concurrently measures diffusion and perfusion parameters and has potential applications for brain tumor classification. However, the effectiveness of IVIM for the differentiation between pilocytic astrocytoma and ependymoma has not been verified. The aim of this study was to determine the potential diagnostic role of IVIM for the distinction between ependymoma and pilocytic astrocytoma.
METHODS
Between February 2019 and October 2020, 22 children (15 males and 7 females; median age 4 years) with either ependymoma or pilocytic astrocytoma were recruited for this prospective study. IVIM parameters were fitted using 7 b-values (0-1,500 s/mm2), to develop a bi-exponential model. The diffusivity (D), perfusion fraction (f), and pseudo diffusivity (D*) were measured in both tumors and the adjacent normal-appearing parenchyma. These IVIM parameters were compared using the Mann-Whitney U test. Receiver operating characteristic (ROC) curve analysis was employed to assess diagnostic performance.
RESULTS
The median D values for ependymoma and pilocytic astrocytoma were 0.87 and 1.25 × 10-3 mm2/s (p < 0.05), respectively, whereas the f values were 0.11% and 0.15% (p < 0.05). The ratios of the median D values for ependymoma and pilocytic astrocytoma relative to the median D values for the adjacent, normal-appearing parenchyma were 1.45 and 2.10 (p < 0.05), respectively. ROC curve analysis found that the D value had the best diagnostic performance for the differentiation between pilocytic astrocytoma and ependymoma, with an area under the ROC curve of 1.
CONCLUSION
IVIM is a beneficial, effective, non-invasive, and endogenous-contrast imaging technique. The D value derived from IVIM was the most essential factor for differentiating ependymoma from pilocytic astrocytoma.
Topics: Astrocytoma; Brain Neoplasms; Child, Preschool; Diagnosis, Differential; Diffusion Magnetic Resonance Imaging; Ependymoma; Female; Humans; Image Processing, Computer-Assisted; Male; Motion; Sensitivity and Specificity
PubMed: 33647051
DOI: 10.1371/journal.pone.0247899 -
Veterinary Pathology Nov 2002A 12-year-old crossbred female cat was presented for necropsy with a history of anorexia, ataxia, convulsions, and blindness. Grossly, a whitish, firm, and...
A 12-year-old crossbred female cat was presented for necropsy with a history of anorexia, ataxia, convulsions, and blindness. Grossly, a whitish, firm, and well-circumscribed nodule with an irregular surface of approximately 1.5 cm in diameter was observed in the right dorsal, parietal, and occipital lobes of the brain. Histologically, the tumor was composed of neoplastic astrocytes forming irregular interweaving sheets and bundles. These cells were elongated, spindle-shaped, and bipolar, and some had clear cytoplasm and a dense nuclear chromatin pattern. Extensive areas of cartilaginous and osseous metaplasia were observed. By immunohistochemistry, the neoplastic cells were found to be markedly positive for S-100 protein and glial fibrillary acidic protein. On the basis of morphologic and immunohistochemical features, the diagnosis of pilocytic astrocytoma was made.
Topics: Animals; Astrocytoma; Brain Neoplasms; Cat Diseases; Cats; Fatal Outcome; Female; Glial Fibrillary Acidic Protein; Immunohistochemistry; S100 Proteins
PubMed: 12450212
DOI: 10.1354/vp.39-6-759 -
Neurosurgical Review Apr 2016Pilocytic astrocytoma (PA) is the most common pediatric central nervous system glial neoplasm and the most common pediatric cerebellar tumor. The spontaneous regression... (Review)
Review
Spontaneous complete regression of hypothalamic pilocytic astrocytoma after partial resection in a child, complicated with Stevens-Johnson syndrome: a case report and literature review.
Pilocytic astrocytoma (PA) is the most common pediatric central nervous system glial neoplasm and the most common pediatric cerebellar tumor. The spontaneous regression that occurs after partial/subtotal resection is multifactorial, depending on multiple factors, as for the case of humoral and cell-mediated immune responses of the host to the implanted tumor. A 7-year-old boy was referred to a neurosurgery clinic with headache. Further imaging workup revealed hypothalamic PA. Partial resection of the lesions was performed with right-side pterional approach. The patient developed a severe panmucositis [Stevens-Johnson syndrome (SJS)] and respiratory failure plus conjunctivitis, due to phenytoin allergy. During the patient's 6-month follow-up, postoperative magnetic resonance imaging (MRI) revealed a residual tumor, and about 9 months later (at 15 months postoperatively), the MRI showed total regression of the tumor. Clinically, symptomatic PA may undergo spontaneous regression after partial resection. We report a well-documented case of spontaneous regression hypothalamic PA after partial resection that complicated with SJS. Immune system reaction in SJS may have a role in tumor behavior and spontaneous regression. Multiple studies confirmed spontaneous regression in PA after partial/subtotal resection. This phenomenon occurs due to humoral and cell-mediated host immune responses to the implanted tumor. The immune system reaction in SJS may have a role in tumor behavior and spontaneous regression.
Topics: Astrocytoma; Cerebellar Neoplasms; Child; Humans; Magnetic Resonance Imaging; Male; Neoplasm, Residual; Stevens-Johnson Syndrome; Treatment Outcome
PubMed: 26662551
DOI: 10.1007/s10143-015-0672-9 -
PloS One 2020Childhood cancers are increasingly recognized as disorders of cellular development. This study sought to identify the cellular and developmental origins of cerebellar...
Childhood cancers are increasingly recognized as disorders of cellular development. This study sought to identify the cellular and developmental origins of cerebellar pilocytic astrocytoma, the most common brain tumor of childhood. Using publicly available gene expression data from pilocytic astrocytoma tumors and controlling for driver mutation, a set of developmental-related genes which were overexpressed in cerebellar pilocytic astrocytoma was identified. These genes were then mapped onto several developmental atlases in order to identify normal cells with similar gene expression patterns and the developmental trajectory of those cells was interrogated. Eight known neuro-developmental genes were identified as being expressed in cerebellar pilocytic astrocytoma. Mapping those genes or their orthologs onto mouse neuro-developmental atlases identified overlap in their expression within the ventricular zone of the cerebellar anlage. Further analysis with a single cell RNA-sequencing atlas of the developing mouse cerebellum defined this overlap as occurring in ventricular zone progenitor cells at the division point between GABA-ergic neuronal and glial lineages, a developmental trajectory which closely mirrors that previously described to occur within pilocytic astrocytoma cells. Furthermore, ventricular zone progenitor cells and their progeny exhibited evidence of MAPK pathway activation, the paradigmatic oncogenic cascade known to be active in cerebellar pilocytic astrocytoma. Gene expression from developing human brain atlases recapitulated the same anatomic localizations and developmental trajectories as those found in mice. Taken together, these data suggest this population of ventricular zone progenitor cells as the cell-of-origin for BRAF fusion-positive cerebellar pilocytic astrocytoma.
Topics: Animals; Astrocytoma; Brain Neoplasms; Cerebellar Neoplasms; Computer Simulation; Databases, Genetic; Female; Humans; Male; Mice; Mutation; Neuroglia; Proto-Oncogene Proteins B-raf
PubMed: 33206716
DOI: 10.1371/journal.pone.0242521 -
Child's Nervous System : ChNS :... Nov 1998Two cases of recurrent pilocytic astrocytoma with leptomeningeal dissemination (LMD) are described. A 6-year-old boy presented with a cerebellar tumor, which was... (Review)
Review
Two cases of recurrent pilocytic astrocytoma with leptomeningeal dissemination (LMD) are described. A 6-year-old boy presented with a cerebellar tumor, which was subtotally removed. Tumor recurrence with LMD occurred 4 years later. Reoperation for tumor removal followed by craniospinal irradiation stabilized the LMD over 5 years. A 4-year-old girl presented with a chiasmatic-hypothalamic tumor. Partial removal of the tumor was followed by radiation therapy. Tumor regrowth with LMD occurred 4 years later and was managed by reoperation, chemotherapy and radiotherapy. Tumor recurrence with LMD can be stabilized by multimodal treatment without tumor progression.
Topics: Arachnoid; Astrocytoma; Cerebellar Neoplasms; Child; Child, Preschool; Combined Modality Therapy; Female; Humans; Hypothalamic Neoplasms; Magnetic Resonance Imaging; Male; Neoplasm Recurrence, Local; Optic Chiasm; Pia Mater
PubMed: 9840361
DOI: 10.1007/s003810050286 -
The American Journal of Surgical... Feb 2010The clinical significance of anaplastic features, a rare event in pilocytic astrocytoma (PA), is not fully established. We reviewed 34 PA with anaplastic features (Male...
The clinical significance of anaplastic features, a rare event in pilocytic astrocytoma (PA), is not fully established. We reviewed 34 PA with anaplastic features (Male = 21, Female = 13; median age 35 y, 5 to 75) among approximately 2200 PA cases (1.7%). Tumors were included which demonstrated brisk mitotic activity [at least 4 mitoses/10 high power fields (400 x )], in addition to hypercellularity and moderate-to-severe cytologic atypia, with or without necrosis. The tumors either had a PA precursor, coexistent (n = 14) (41%) or documented by previous biopsy (n = 10) (29%), or exhibited typical pilocytic features in an otherwise anaplastic astrocytoma (n = 10) (29%). Clinical features of neurofibromatosis type-1 were present in 24% and a history of radiation for PA precursor in 12%. Histologically, the anaplastic component was classified as pilocytic like (41%), small cell (32%), epithelioid (15%), or fibrillary (12%). Median MIB1 labeling index was 24.7% in the anaplastic component and 2.6% in the precursor, although overlapping values were present. Strong p53 staining (3+) was limited to areas with anaplasia (19%), with overlapping values for 1 and 2+ in areas without anaplasia. Median overall and progression-free survivals after diagnosis for the entire study group were 24 and 14 months, respectively. Overall and progression-free survivals were shorter in the setting of prior radiation for a PA precursor (P = 0.007, 0.028), increasing mitotic activity (P = 0.03, 0.02), and presence of necrosis (P = 0.02, 0.02), after adjusting for age and site. The biologic behavior of PAs with high-mitotic rates and those with necrosis paralleled that of St Anne-Mayo grades 2 and 3 diffuse astrocytomas, respectively. In summary, PA with anaplastic features exhibits a spectrum of morphologies and is associated with decreased survival when compared with typical PA.
Topics: Adolescent; Adult; Aged; Anaplasia; Astrocytoma; Biomarkers, Tumor; Brain Neoplasms; Child; Child, Preschool; Combined Modality Therapy; Female; Humans; Kaplan-Meier Estimate; Male; Middle Aged; Minnesota; Mitosis; Prognosis; Retrospective Studies; Survival Rate; Ubiquitin-Protein Ligases; Young Adult
PubMed: 20061938
DOI: 10.1097/PAS.0b013e3181c75238 -
Cirugia Y Cirujanos 2017Pilocytic astrocytoma is a rare tumour, usually occurring in paediatric ages, and mainly located in the posterior fossa. It can cause hydrocephalus and intracranial... (Review)
Review
BACKGROUND
Pilocytic astrocytoma is a rare tumour, usually occurring in paediatric ages, and mainly located in the posterior fossa. It can cause hydrocephalus and intracranial hypertension and, less frequently, seizures, or a focal neurological deficit. The main imaging study by magnetic resonance imaging, which shows a tumour with solid and cystic components without peri-lesional swelling. The election treatment is surgical, and the patient is considered cured if a total resection is accomplished.
CLINICAL CASE
The case is presented of 22-year-old female patient with a supratentorial pilocytic astrocytoma and epilepsy. Histopathology reported a low grade glial proliferation, with an extensive fibrillar matrix, small cells without atypia, extensive calcifications and piloid areas consisting of bipolar fusiform cells, and some Rosenthal fibres. There were also spongiotic areas consisting of multipolar cells and associated microcysts. The final report was a pilocytic astrocytoma.
CONCLUSIONS
Pilocytic astrocytoma is more frequent in paediatric patients and in the posterior fossa. The case presented is of a young female adult with supratentorial location, making it a special case. The surgery achieved a total resection. The long-term prognosis is good, but it is necessary to perform a follow-up, particularly in adult patients because of a higher risk of recurrence.
Topics: Anticonvulsants; Astrocytoma; Cholecystitis, Acute; Craniotomy; Female; Humans; Levetiracetam; Magnetic Resonance Imaging; Neuroimaging; Piracetam; Remission Induction; Seizures; Supratentorial Neoplasms; Young Adult
PubMed: 27417707
DOI: 10.1016/j.circir.2016.05.009