Human subcommissural organ, with particular emphasis on its secretory activity during the fetal life

Rodríguez, Estéban M.; Oksche, A.; Montecinos, Hernán

doi:10.1002/1097-0029(20010301)52:5<573::aid-jemt1042>3.0.co;2-6

Cited by 57 publications

(47 citation statements)

References 39 publications

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“…The secretory inclusions of PTPRs have been noted to contain proteins and glycoproteins. 7,11 Concentration of proteins in the small cystic spaces seen in these masses may explain the intrinsic hyperintensity on T1-weighted sequences.…”

Section: Discussionmentioning

confidence: 99%

MR Imaging of Papillary Tumor of the Pineal Region

Chang¹,

Fuller²,

Debnam³

et al. 2007

AJNR Am J Neuroradiol

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SUMMARY:We report the imaging features of 4 cases of patients with papillary tumor of the pineal region, a tumor newly recognized in the 2007 World Health Organization "Classification of Tumors of the Nervous System." In each case, the tumor was intrinsically hyperintense on T1-weighted images with a characteristic location in the posterior commissure or pineal region. The pathologic hallmarks of the tumor are discussed, including a possible explanation for the MR imaging characteristics in our cases. P rimary papillary tumors of the central nervous system and particularly the pineal region are rare. Papillary tumor of the pineal region (PTPR) is a recently described neoplasm that has been formally recognized in the 2007 World Health Organization (WHO) "Classification of Tumors of the Nervous System."1 Histologic features and immunohistochemical staining distinguish this type of papillary tumor from other papillary-like tumors that occur in the region. [2][3][4][5][6][7] It is postulated that the masses arise from the specialized ependymocytes of the subcommissural organ located in the lining of the posterior commissure. 4 There are documented cases in the neuropathology and neurosurgery literature but limited descriptions of MR imaging features.7-9 Here, we present 4 patients who underwent MR imaging and surgical resection of tumors in the posterior commissure and pineal region where the pathologic diagnosis was a PTPR. Case Reports Case 1A 27-year-old woman presented with headache and hydrocephalus. MR imaging at 1.5T revealed a mass centered between the posterior commissure and pineal region, which compressed the tectum and aqueduct (Fig 1). The mass was hyperintense on noncontrast T1-weighted images and enhanced heterogeneously after administration of gadolinium.The patient underwent ventriculostomy and surgical resection of the mass. Gross and histologic examinations of the mass did not display evidence of hemorrhage, calcification, melanin, keratin debris, or fat. Focal calcification was present in the adjacent pineal gland, which was displaced to the left. The pineal gland was normal on histologic examination. Case 2A 51-year-old woman presented with a headache and impairment of upward gaze. Imaging demonstrated a mass centered on the posterior commissure with mass effect on the pineal gland, aqueduct, and posterior third ventricle (Fig 2A). As in case 1, there was intrinsic hyperintensity on T1-weighted images throughout the mass on 1.5T unenhanced sequences. Small cystic areas were present in the mass, and the solid portions of the mass enhanced heterogeneously. Resection of the mass was accomplished by an infratentorial-supracerebellar approach, and immunohistochemical profiling confirmed the mass to be a PTPR. Case 3A 50-year-old woman presented with a 3-year history of gait imbalance, fatigue, and short-term memory loss. She reported a recent episode of confusion associated with weakness of the right lower extremity and was taken to the emergency department, where a 1.5T MR imaging examination demons...

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Section: Discussionmentioning

confidence: 99%

MR Imaging of Papillary Tumor of the Pineal Region

Chang¹,

Fuller²,

Debnam³

et al. 2007

AJNR Am J Neuroradiol

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“…This organ produces Reissner's fibers, and both the organ and the fibers have been shown to be important for the patency of the aqueduct, in that destruction of the SCO leads to obstructive hydrocephalus (Perez-Figares et al, 2001). Antibodies specific to Reissner's fibers (Rodriguez et al, 1984;Rodriguez et al, 2001; strongly and specifically labeled the SCO from the wild-type mice (Fig. 3B), but this label was generally not detected in the same anatomical region in the transgenic mice.…”

Section: Evaluation Of Transgenic Micementioning

confidence: 96%

“…Anatomical characterization of these mice revealed severe congenital hydrocephalus that was nonetheless compatible with life and fertility in some cases. This obstructive hydrocephalus appeared to be secondary to failure of development of the subcommissural organ (SCO), a structure that is important for the patency of the aqueduct of Sylvius and normal cerebrospinal fluid flow in the brain (Cifuentes et al, 1994;Perez-Figares et al, 1998;PerezFigares et al, 2001;Rodriguez et al, 2001;Rodriguez et al, 1998;Vio et al, 2000). Identification of the genomic sequences flanking the inserted transgene led to the discovery that the transgene interfered with the expression of a novel brainspecific isoform of the winged helix transcription factor regulatory factor X4 (RFX4), which has been named RFX4 variant transcript 3, or RFX4_v3.…”

Section: Introductionmentioning

confidence: 99%

Graded phenotypic response to partial and complete deficiency of a brain-specific transcript variant of the winged helix transcription factor RFX4

et al. 2003

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Interruption of a single allele prevented formation of the subcommissural organ, a structure important for cerebrospinal fluid flow through the aqueduct of Sylvius, and resulted in congenital hydrocephalus. These data implicate the RFX4_v3 variant transcript as being crucial for early brain development, as well as for the genesis of the subcommissural organ. These findings may be relevant to human congenital hydrocephalus, a birth defect that affects ~0.6 per 1000 newborns.

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“…Hydrocephalus is the net, pathological accumulation of CSF. With the rare exception of CSF overproduction, most types of hydrocephalus are due to an impairment of CSF flow, within either the ventricular system (noncommunicating hydrocephalus) or the subarachnoid space (communicating hydrocephalus; Rodriguez et al, 2001;Picketts, 2006). Noncommunicating hydrocephalus arises from an obstruction of the ventricular system, usually occurring in the narrowed segments.…”

Section: Rfx4_v3 and Noncommunicating Congenital Hydrocephalusmentioning

confidence: 99%

“…Both the organ and fibers are important for the patency of the aqueduct. Indeed, malformation of the SCO leads to hydrocephalus (Rodriguez et al, 2001;Picketts, 2006).…”

Section: Rfx4_v3 and Noncommunicating Congenital Hydrocephalusmentioning

confidence: 99%

Regulatory factor X4 variant 3: A transcription factor involved in brain development and disease

Zhang

Zeldin

Blackshear

2007

J of Neuroscience Research

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Regulatory factor X4 variant 3 (RFX4_v3) is a recently identified transcription factor specifically expressed in the brain. Gene disruption in mice demonstrated that interruption of a single allele (heterozygous, +/−) prevented formation of the subcommissural organ (SCO), resulting in congenital hydrocephalus, whereas interruption of two alleles (homozygous, −/−) caused fatal failure of dorsal midline brain structure formation. These mutagenesis studies implicated RFX4_v3 in early brain development as well as the genesis of the SCO. Rfx4_v3 deficiency presumably causes abnormalities in brain by altering the expression levels of many genes that are crucial for brain morphogenesis, such as the signaling components in the Wnt, bone morphogenetic protein, and retinoic acid pathways. RFX4_v3 might affect these critical signaling pathways in brain development. Cx3cl1, a chemokine gene highly expressed in brain, was identified as a direct target for RFX4_v3, indicating that RFX4_v3 possesses trans-acting activity to stimulate gene expression. Rfx4_v3 is highly expressed in the suprachiasmatic nucleus and might be involved in regulating the circadian clock. One haplotype in RFX4_v3 gene is linked to a higher risk of bipolar disorder, suggesting that this protein might contribute to the pathogenesis of the disease. This Mini-Review describes our current knowledge about RFX4_v3, an important protein that appears to be involved in many aspects of brain development and disease. Keywords regulatory factor X; hydrocephalus; midline; brain development Regulatory factor X (RFX) members belong to the winged-helix subfamily of helix-turn-helix transcription factors, which share a highly conserved 76-amino-acid DNA binding domain (DBD) that is distinct from any other DBD (Gajiwala et al., 2000). These proteins regulate the expression of their target genes by binding to symmetrical "X-box" consensus sequences (Gajiwala et al., 2000). RFX family members have been identified in a broad range of

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Human subcommissural organ, with particular emphasis on its secretory activity during the fetal life

Cited by 57 publications

References 39 publications

MR Imaging of Papillary Tumor of the Pineal Region

MR Imaging of Papillary Tumor of the Pineal Region

Graded phenotypic response to partial and complete deficiency of a brain-specific transcript variant of the winged helix transcription factor RFX4

Regulatory factor X4 variant 3: A transcription factor involved in brain development and disease

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