No chromosomal imbalances detected by comparative genomic hybridisation in a case of fetal immature teratoma

Rickert, Christian H.; Paulus, Werner

doi:10.1007/s00381-002-0619-7

Cited by 10 publications

(4 citation statements)

References 14 publications

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“…The definition of these tumours highlights how morphologically, immunophenotypically and, in some respects, genetically they represent the homologues of gonadal and other germ cell neoplasms occurring outside the neuraxis. Pure intracranial teratomas, presenting as congenital or infantile growths, resemble teratomas of the infant testis, are typically diploid, and show general chromosomal integrity . CNS germ cell tumours, arising after early childhood similar to the testicular tumours occurring in young men, characteristically have aneuploid profiles, complex chromosomal anomalies and overlapping patterns of net genetic imbalance .…”

Section: Introductionmentioning

confidence: 99%

WHO 2016 classification: changes and advancements in the diagnosis of miscellaneous primary CNS tumours

Sahm

Reuß

Giannini

2018

Neuropathology Appl Neurobio

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This short review highlights significant changes and recent findings incorporated to varying extent in the WHO 2016 definition of a variety of tumours, including peripheral nerve sheath tumours, meningiomas, mesenchymal nonmeningothelial tumours, melanocytic tumours, lymphomas and histiocytic tumours, germ cell tumours and non-neuroendocrine pituitary tumours. Most notable classification changes include: adding 'hybrid nerve sheath tumours' to the spectrum of benign nerve sheath tumours; an updated definition of atypical meningioma (WHO grade II), including cases with brain invasion; recognizing dural solitary fibrous tumour (SFT) and haemangiopericytoma (HPC) as a single tumour entity characterized by NAB2 and STAT6 gene fusions for which the term SFT/HPC was chosen; recognizing that pituitary granular cell tumour, spindle cell oncocytoma, and pituicytoma all share nuclear expression of TTF-1, possibly representing a spectrum of a single nosological entity derived from posterior pituitary glial cells. The most significant diagnostic markers which have emerged include: inactivation of NF1, CDKN2A, and PRC2 components, SUZ12 and EED in MPNST, leading to neurofibromin and H3K27me3 expression loss; GNAQ and GNA11 mutations in CNS primary melanocytic tumours; BRAFV600E mutation in histiocytic tumours (Langerhans cell histiocytosis and Erdheim-Chester disease) and papillary craniopharyngioma, which provides both a diagnostic marker in the appropriate pathological setting and a therapeutic target. The WHO 2016 Classification has balanced cutting-edge knowledge on the molecular characteristics of the miscellaneous CNS tumours reviewed here with a practical approach for their daily diagnostic work-up. Much more progress can be expected in the classification of these neoplasms in the near future.

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Section: Introductionmentioning

confidence: 99%

WHO 2016 classification: changes and advancements in the diagnosis of miscellaneous primary CNS tumours

Sahm

Reuß

Giannini

2018

Neuropathology Appl Neurobio

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“…If so, the type of tumor that develops is determined mainly by the type of tissue in which the aberration occurs, rather than by the aberration itself. Chromosomal investigations in brain teratomas have revealed 1 case with abnormal karyotype and 6 with no cytogenetic aberrations (Robson et al, 1997; Rickert and Paulus, 2002). The former was a fetus affected by Down syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…Malignant transformation is a rare complication. Very few cases have been documented cytogenetically (Scheres et al, 1999; Rickert and Paulus, 2002). In this article, we present a case of this rare congenital tumor and the findings from the DNA analysis, which was performed with bacterial artificial chromosome (BAC) arrays using the comparative genomic hybridization (CGH) method.…”

Section: Introductionmentioning

confidence: 99%

Novel karyotypic changes detected by comparative genomic hybridization in a case of congenital cervical immature teratoma

Miliaras

Grimbizis

Conroy

et al. 2005

Birth Defects Research

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“…Being midline lesions, these tumors usually occupy the pineal gland, suprasellar region, quadrigeminal plate, walls of the third ventricle and cerebellar vermis [1,2,[6][7][8][9] . Other non-midline sites that have been described are basal ganglia, cerebellopontin angle and cavernous sinus [10,11] .…”

Section: Discussionmentioning

confidence: 99%

Congenital Intracranial Teratoma with Massive Macrocephaly and Skull Rupture

Bolat¹,

Kayaselçuk²,

Tarım³

et al. 2007

Fetal Diagn Ther

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Objective: Congenital intracranial tumors are rare and only account for 0.5–1.5% of all pediatric brain tumors. Teratoma is the most frequently encountered intracranial tumor at birth. Massive congenital intracranial teratoma is an extremely rare neoplasm with a poor prognosis. They grow rapidly and cause extensive destruction in the brain. Herein we report a massive intracranial teratoma causing skull rupture. Case Report: A fetus with a congenital intracranial teratoma presenting with a disproportionately enlarged head at 25 weeks of gestation is presented. Since it was the first admission of the mother to a medical expert for a prenatal examination, there was noprevious follow-up data. Prenatal ultrasonography demonstrated a huge, heterogeneous intracranial mass, and midline structures and ventricles could not be observed. No heartbeat was detected. Autopsy was perforated, and histopathologic examination of the samples taken from the intracranial mass revealed an immature teratoma. Conclusion: Although congenital intracranial teratomas are rare, they may reach enormous sizes. Regular follow-up of the fetus may lead to early diagnosis of immature intracranial teratomas and prevent the mother from having further complications either due to intrauterine fetal death orpsychological trauma of giving birth to a heavily malformed baby.

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No chromosomal imbalances detected by comparative genomic hybridisation in a case of fetal immature teratoma

Cited by 10 publications

References 14 publications

WHO 2016 classification: changes and advancements in the diagnosis of miscellaneous primary CNS tumours

WHO 2016 classification: changes and advancements in the diagnosis of miscellaneous primary CNS tumours

Novel karyotypic changes detected by comparative genomic hybridization in a case of congenital cervical immature teratoma

Congenital Intracranial Teratoma with Massive Macrocephaly and Skull Rupture

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