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1.
Acta Neurol Belg ; 112(1): 71-5, 2012 Mar.
Article in English | MEDLINE | ID: mdl-22427294

ABSTRACT

We report a new case of giant cell ependymoma (GCE) of the thoracic spinal cord. Ependymomas predominate in children and young adults and are frequently intracranial and infra-tentorial. However, a second age peak at 30-40 years is reported for spinal tumours. Microscopically, ependymomas show a large variety of histological features, among which a rare variant with giant cells. This 59-year-old woman presented with a 6-month history of numbness and burning sensation affecting the left lower limb and hemi-trunk. A cervico-thoracic MRI revealed a solid intra-medullary tumour at the level of T1-T3, slightly T1-hypointense, T2-hyperintense and contrast enhancing. A complete surgical resection was carried out through a C7 to T4 laminectomy. Recovery was complete with no sign of recurrence at 18-month follow-up. The initial histological diagnosis of glioblastoma was challenged on the basis of the imaging and operative findings of a well-circumscribed tumour. The case was sent to us for second opinion and we diagnosed a GCE, WHO grade II, with a biphasic pattern including a predominant giant cell component (>90%), with genetic evidence of polyploidy, and a very limited classic component, showing a characteristic loss of chromosome 22. Our report adds to the clinical, imaging, pathological and genetic characterisation of GCE and brings the first genetic evidence that these rare tumours are at least bi-clonal. It also suggests that GCE have a good prognosis after complete surgical resection.


Subject(s)
Ependymoma , Giant Cells/pathology , Spinal Cord Neoplasms , 12E7 Antigen , Antigens, CD/metabolism , Cell Adhesion Molecules/metabolism , Ependymoma/diagnosis , Ependymoma/therapy , Glial Fibrillary Acidic Protein/metabolism , Humans , Ki-67 Antigen/metabolism , Magnetic Resonance Imaging , Male , Middle Aged , Spinal Cord Neoplasms/diagnosis , Spinal Cord Neoplasms/pathology , Spine/pathology
2.
Eur J Cancer ; 45(1): 146-53, 2009 Jan.
Article in English | MEDLINE | ID: mdl-18945611

ABSTRACT

AIMS: To investigate the correlation between O(6)-methylguanine-DNA-methyltransferase (MGMT) promoter methylation and benefit from temozolomide in patients with recurrent high-grade glioma. PATIENTS AND METHODS: A real-time, quantitative, methylation-specific PCR assay was performed on archival tissue blocks from patients treated with temozolomide at the first recurrence. RESULTS: A subgroup of 38 patients who were chemotherapy-naive at recurrence was analysed (22 glioblastoma, 12 anaplastic astrocytoma [AA] and 4 anaplastic oligoastrocytoma [AOA]); none had 1p/19q loss. Among 10 (26%) patients with a hypermethylated MGMT promoter, none experienced disease progression within the first two treatment cycles compared with 12 of 28 (43%) patients with an unmethylated promoter (p=0.016). By Cox multivariate analysis, tumour grade and MGMT promoter methylation correlated with time to progression (p<0.05); MGMT promoter methylation correlated with superior overall survival in AA/AOA but not in glioblastoma. CONCLUSIONS: MGMT promoter methylation predicted a survival benefit in patients with 1p/19q intact AA/AOA treated with temozolomide at recurrence.


Subject(s)
Antineoplastic Agents, Alkylating/therapeutic use , Astrocytoma/drug therapy , Brain Neoplasms/drug therapy , Dacarbazine/analogs & derivatives , O(6)-Methylguanine-DNA Methyltransferase/genetics , Promoter Regions, Genetic , Adult , Aged , Aged, 80 and over , Astrocytoma/mortality , Brain Neoplasms/mortality , DNA Methylation , Dacarbazine/therapeutic use , Female , Glioblastoma/drug therapy , Humans , Kaplan-Meier Estimate , Male , Middle Aged , Neoplasm Recurrence, Local/drug therapy , Neoplasm Recurrence, Local/mortality , Prognosis , Retrospective Studies , Survival Rate , Temozolomide , Young Adult
3.
Prenat Diagn ; 25(5): 354-7, 2005 May.
Article in English | MEDLINE | ID: mdl-15906424

ABSTRACT

We report on a fetus with multiple congenital anomalies detected at the prenatal ultrasound examination and a trisomy 6 mosaicism in the amniocytes. The pregnancy was interrupted in the 18th gestational week and the autopsy revealed malformations including cleft right hand, arthrogryposis and hypoplasia of the 4th digit of the left hand, syndactylies and overlapping toes, facial dysmorphism with hypertelorism and low-set ears, ventricular septum defect (VSD), intestinal malrotation and scoliosis. Trisomy 6 mosaicism was detected in cultured amniocytes (13.3%), confirmed in umbilical cord fibroblasts (40%) and by fluorescence in situ hybridization on other fetal tissues. Trisomy 6 mosaicism is a very rare finding with only eight cases previously reported to our best knowledge.


Subject(s)
Chromosomes, Human, Pair 6 , Mosaicism , Prenatal Diagnosis , Trisomy/diagnosis , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/embryology , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Adult , Diagnosis, Differential , Female , Genetic Counseling , Humans , Pregnancy , Pregnancy Trimester, Second , Trisomy/genetics , Trisomy/pathology
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