Dataset Information

Papillary Tumor of the Pineal Region: A Distinct Molecular Entity.

ABSTRACT: Papillary tumor of the pineal region (PTPR) is a neuroepithelial brain tumor, which might pose diagnostic difficulties and recurs often. Little is known about underlying molecular alterations. We therefore investigated chromosomal copy number alterations, DNA methylation patterns and mRNA expression profiles in a series of 24 PTPRs. Losses of chromosome 10 were identified in all 13 PTPRs examined. Losses of chromosomes 3 and 22q (54%) as well as gains of chromosomes 8p (62%) and 12 (46%) were also common. DNA methylation profiling using Illumina 450k arrays reliably distinguished PTPR from ependymomas and pineal parenchymal tumors of intermediate differentiation. PTPR could be divided into two subgroups based on methylation pattern, PTPR group 2 showing higher global methylation and a tendency toward shorter progression-free survival (P = 0.06). Genes overexpressed in PTPR as compared with ependymal tumors included SPDEF, known to be expressed in the rodent subcommissural organ. Notable SPDEF protein expression was encountered in 15/19 PTPRs as compared with only 2/36 ependymal tumors, 2/19 choroid plexus tumors and 0/23 samples of other central nervous system (CNS) tumor entities. In conclusion, PTPRs show typical chromosomal alterations as well as distinct DNA methylation and expression profiles, which might serve as useful diagnostic tools.

SUBMITTER: Heim S

PROVIDER: S-EPMC8029206 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature

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Papillary Tumor of the Pineal Region: A Distinct Molecular Entity.

Heim Stephanie S Sill Martin M Jones David T W DT Vasiljevic Alexandre A Jouvet Anne A Fèvre-Montange Michelle M Wesseling Pieter P Beschorner Rudi R Mittelbronn Michel M Kohlhof Patricia P Hovestadt Volker V Johann Pascal P Kool Marcel M Pajtler Kristian W KW Korshunov Andrey A Ruland Vincent V Sperveslage Jan J Thomas Christian C Witt Hendrik H von Deimling Andreas A Paulus Werner W Pfister Stefan M SM Capper David D Hasselblatt Martin M

Brain pathology (Zurich, Switzerland) 20150730 2

Papillary tumor of the pineal region (PTPR) is a neuroepithelial brain tumor, which might pose diagnostic difficulties and recurs often. Little is known about underlying molecular alterations. We therefore investigated chromosomal copy number alterations, DNA methylation patterns and mRNA expression profiles in a series of 24 PTPRs. Losses of chromosome 10 were identified in all 13 PTPRs examined. Losses of chromosomes 3 and 22q (54%) as well as gains of chromosomes 8p (62%) and 12 (46%) were al ...[more]

PMID: 26113311

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Project description:BackgroundThe removal of pineal region lesions are challenging, and therapeutic strategies for their removal remain controversial. The current study was conducted to identify the characteristics and the optimal therapeutic strategies for pineal region lesions.MethodsThis retrospective study reviewed the treatments of 101 patients with pineal region lesions, and different characteristics and therapeutic strategies were observed.ResultsThere were no statistical differences in the total resection ratio, complications, and prognosis outcomes between the hydrocephalus group and non-hydrocephalus group, except patients in the hydrocephalus group were younger and pediatric patients had an increased level of intracranial infections. Treatments of lesions and hydrocephalus secondary to pineal region lesions were two integral parts to therapeutic strategies. For the management of lesions, germinoma or non-germinoma were diagnosed preoperatively, and resection or diagnostic radiation were chosen to deal with pineal region lesions. Endoscopic-assisted surgery provided a higher total resection rate. For the management of hydrocephalus, endoscopic third ventriculostomy (ETV) had the better therapeutic effect. Additionally, cerebrospinal fluid (CSF) diversion before radiotherapy or resection did not improve prognosis outcome, but it was necessary for patients with severe hydrocephalus. Logistical regression analysis indicated that age, lesion size, reoperation ratio, and intracranial complications were predictors of prognosis outcome.ConclusionMore attention should be paid to intracranial infections in pediatric patients with hydrocephalus secondary to pineal region lesions, and CSF diversion before radiotherapy or resection did not promote prognosis outcome, but it was necessary for patients with severe hydrocephalus. Age, lesion size, reoperation ratio, and intracranial complications may be the predictors of prognosis outcome. Most importantly, the surgical algorithm for pineal region lesions which was based on preoperatively diagnosis (non-germinoma and germinoma) is useful, especially for developing countries.

Dataset Information

Papillary Tumor of the Pineal Region: A Distinct Molecular Entity.

Publications

Papillary Tumor of the Pineal Region: A Distinct Molecular Entity.

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