Congenital Glioblastoma Multiforme Research Articles

Diagnostic challenges of an incidental finding: case report of definitely-congenital glioblastoma multiforme in a very preterm infant

BackgroundCongenital brain tumors are extremely rare in the neonatal population, and often associated with a poor prognosis. The diagnostic suspicion is often aroused at antenatal scans or postnatally, if clinical signs and symptoms of increased intracranial pressure become evident. We present a case of definitely congenital glioblastoma multiforme incidentally diagnosed in a preterm infant, aiming to raise clinical awareness on this condition and to highlight the challenges of the related diagnostic work-up.Case presentationThis female infant was born at 31 weeks’ gestation after an uneventful pregnancy. No abnormalities were detected at antenatal ultrasound scans and genetic tests. Head circumference at birth was on the 25th centile. A routine brain ultrasound scan performed on day 1 revealed a large, inhomogeneous lesion in the right cerebral hemisphere, with contralateral midline shift, which was confirmed by brain magnetic resonance imaging (MRI). Eye fundus and routine blood exams, including platelets count, coagulation screening and C-reactive protein, were normal.Given the high risk of complications, surgical biopsy of the lesion was temporarily hold and a daily sonographic follow-up was undertaken. Although head circumference growth was steady on the 25th centile, progressive changes of the lesion were detected by cranial ultrasound.The repeat MRI scans showed a significant enlargement of the mass, with contralateral midline shift and signs of intralesional and intraventricular bleeding. In view of this worsening, surgical resection was performed. The histological examination of the lesion biopsy documented a GFAP+ highly cellular neoplasm, with no mutation on SMARCB1 gene. At the molecular analysis, mutations on IDH and H3F3A genes were absent, whereas MGMT promoter was unmethylated. The diagnosis was grade IV glioblastoma IDH wild-type.ConclusionsCongenital glioblastoma multiforme is an extremely rare but highly aggressive neoplasm. Since intralesional biopsy is not often feasible in affected neonates, knowledge of the associated clinical and neuroradiological features is particularly important, as they can also add useful information on the neoplasm behavior. Specimens from open surgical resection allow to perform a definite histological analysis and an extended molecular characterization, with relevant prognostic implications.

HGG-43. CONGENITAL GLIOBLASTOMA MULTIFORME: A CASE REPORT OF A RARE PEDIATRIC BRAIN TUMOR, MOLECULAR ANALYSIS, AND REVIEW OF THE LITERATURE

Congenital brain tumors are rare, accounting for less than 4% of all pediatric brain tumors. Congenital glioblastoma multiforme (GBM) is rarer still, accounting for 3–15% of congenital brain tumors. There is literature to suggest that these tumors differ from pediatric and adult GBM clinically and molecularly, and as such should be treated as their own distinct entity. Our case is a 4 week old male who initially presented to his pediatrician for enlarging head circumference and upward gaze palsy. An MRI was obtained revealing a right parietal mass. He underwent gross total resection the following day with pathology revealing glioblastoma, WHO grade IV. Further analysis revealed ATRX retained, p53 immunoreactivity in 15–20% of nuclei, IDH1 and IDH2 wildtype, MGMT promoter not methylated, H3K27M wildtype, no 1p and/or 19q deletion/codeletion. Interestingly, RNA analysis of his tumor detected the PPP1CB-ALK fusion transcript as well as amplification of the ALK gene. Co-occurrence of these mutations has been reported in a small number of pediatric glioblastoma patients and PPP1CB-ALK fusions are one of the most common receptor tyrosine kinase fusions in infantile gliomas. ALK rearrangements and amplifications suggest a potential therapeutic target with tyrosine kinase inhibitors in glioblastoma. This patient serves as an example of a rare congenital glioblastoma with unique molecular features that may suggest novel treatment opportunities. We present his clinical course along with a pertinent review of the literature.

Congenital Glioblastoma Multiforme: An Unusual and Challenging Tumor.

Congenital glioblastoma multiforme is a rare tumor of the central nervous system with unique features. The existing evidence on its pathogenesis, genetic and molecular profile, special characteristics, treatment, and prognosis is reviewed. An increased number of antenatal diagnoses and prolonged survival for those individuals who can tolerate combined surgical resection and chemotherapy has been noted. The overall prognosis, however, remains poor. A better understanding of this unusual entity is important. Further research is needed to discern tumor's pathogenesis and natural history. This will likely lead to the development and implementation of treatment strategies that may decrease mortality and morbidity in these patients.

Glioblastoma multiforme congénito infratentorial. Un tumor excepcional con una biología aún desconocida

Congenital glioblastoma multiforme represents only 3% of congenital central nervous system tumours and an infratentorial location is unusual. A newborn with congenital glioblastoma multiforme with no mutation in the TP53 gene or p53 nuclear immunoreactivity that infiltrated practically the whole brainstem and also invaded supratentorial structures. As far as we know, only four cases with an infratentorial location have been reported previously, three in the cerebellum and one in the brainstem. The biology of congenital glioblastoma multiforme is not well known and, unlike glioblastoma multiforme in adults and children, mutations in the TP53 gene are uncommon. However, this is not associated with a more favourable prognosis. These observations suggest that specific biological processes underlie fetal glioblastoma multiforme development.

Multimodal MR imaging findings of a congenital glioblastoma multiforme

Dear Editor: We wish to report a case of congenital glioblastoma multiforme which is a rare high-grade glial tumor, with diffusionweighted magnetic resonance images and MR spectroscopy. Published reports are mostly based on clinical, genetical, and pathological behavior of the tumor; reports of radiological appearance are relatively uncommon. The imaging in those reports most commonly involved antenatal diagnoses by ultrasound; we did not recognize any report of MRI with diffusion and spectroscopy so far. An 8-month-old female infant from North Iraq presenting with an enlarging head was admitted to our hospital. The parents stated that they were told that the head circumference was larger than normal limits at birth. No further investigation was made at that time. On her routine follow-up onthe second month,aheadCTwasperformedbecauseoftheenlargedhead which revealeda supratentorialmass.The parents didnot seek any treatment at that time. Six months later, the baby was seen at our hospital, with the complaint of increasing enlargement of the head circumference. On physical examination, the patient was fine, with normal reflexes and normal responses to the stimuli, except for the macrocephaly. An MRI of the brain revealed a huge mass in the right frontal and parietal lobes which contained multiple small and large cystic areas and solid components that were isointense to gray matter on both T1-weighted- (Fig. 1a) and T2-weighted images. The

Congenital glioblastoma multiforme: A case report and review of literature

Congenital brain tumors are very rare neoplasms. The diagnosis of glioblastoma multiforme in a newborn infant is a rarity. Prognosis of congenital glioblastoma has been uniformly fatal with most of the cases reported in literature having a very short survival in spite of all modalities of treatment. The authors report a case of congenital glioblastoma involving the pan right cerebral hemisphere in a two month-old infant who expired six months after tumor decompression. Literature is reviewed in light of the present case and various treatment modalities for this rare tumor are highlighted.

Congenital glioblastoma multiforme

Congenital intracranial tumors are rare. If such a lesion is detected before birth, it is usually an incidental finding on fetal ultrasonography. The definition of a "congenital" tumor is controversial. The authors report the case of a "definite" congenital glioblastoma multiforme (GBM) diagnosed with the aid of ultrasonography and fetal magnetic resonance (MR) imaging in the 37th week of gestation. Postnatal MR imaging revealed a massive tumor occupying the patient's left temporoparietooccipital area. Angiography was performed to assess vascularity and embolize the main feeding arteries. Surgery was performed, and the tumor was successfully excised completely. The histopathological diagnosis of the tumor was GBM. An examination of the tumor cells revealed no p53 accumulation, a high MIB-1 index (87.5%), and no staining for epidermal growth factor receptor (EGFR). Adjuvant chemotherapy was administered, and the patient is doing well at 23 months of age. Congenital GBM should be considered in the differential diagnosis in cases in which a fetal ultrasonography study or fetal MR image reveals a tumor, especially in the presence of intratumoral hemorrhage. Radical tumor removal, administration of adjuvant therapy, and biological findings (such as a lack of the overexpression of p53 and EGFR in the tumor cells) all point to a longer survival time.

Congenital glioblastoma multiforme with abnormal vascularity presenting as intracranial hemorrhage in prenatal ultrasound

A rare case of a congenital brain neoplasm with intratumoral massive hemorrhage suggested by prenatal ultrasound examination in a 32-week gestational age male fetus is reported. The child died shortly after birth due to cardiorespiratory insufficiency. Autopsy disclosed a large well-delimited tumor with a sponge-like appearance due to high vascularization, which involved nearly the whole left cerebral hemisphere and led to marked hydrocephalus by secondary aqueductal stenosis. Histological and immunohistochemical examination confirmed the diagnosis of a malignant glioma with features of a glioblastoma multiforme (GBM) matching well with previous findings in primary pediatric GBMs. The present case demonstrates that malignant congenital neoplasms should be considered in the differential diagnosis of fetal intracranial hemorrhage.

Congenital glioblastoma multiforme: a report of three cases and a review of the literature

The clinical histories, histologic features, and immunohistochemical staining patterns for glial fibrillary acidic protein, vimentin, p53, and epidermal growth factor receptor (EGFR) of three cases of congenital glioblastoma multiforme are given and previous case reports are reviewed. Of the three cases reported in this series, two have had long-term survivals of greater than 2 1/2 and 5 1/2 years after surgery and surgery followed by chemotherapy, respectively. Both of these cases also demonstrated p53 protein accumulation, a finding in pediatric glioblastoma multiforme associated with poor prognosis. The third case occurred in an infant who died at birth and demonstrated a well-circumscribed tumor that did not invade adjacent brain parenchyma. Considering these three cases, the biological behavior in congenital glioblastoma multiforme may not be unfavorable as portrayed in the literature or as seen in its adult counterpart.

Congenital Glioblastoma Multiforme: A Case Report

Congenital glioblastoma multiforme is relatively rare accounting for 2-9% of all congenital brain tumors. We deseribe a case of congenital glioblastoma multiforme which occurred in the lateral ventricle. T1-weighted images revealed high signal intensity, with areas of internal low signal intensity, while T2-weighted images showed low signal intensity with focal internal high-signal portions. Post-contrast T1-weighted images depicted a lateral ventricular mass which extended to adjacent brain parenchyme and had a serpentine signal void representing internal vessel.

Congenital Glioblastoma Multiforme: report of an autopsy case

A congenital neoplasm arising in the central nervous system is rarely encountered, and the majority of case reports that have dealt with intracranial tumors have been divided almost equally between teratomas and various gliomas. We experienced a rare case of congenital glioblastoma multiforme encountered in a three day-old male infant who presented with hydrocephalus since birth. Post-mortem examination revealed that the tumor seemed to have originated from the right thalamic region extending centrifugally to the cerebral cortex and through the brain-stem down to the cerebellum.