Simultaneous Presentation of Symptomatic Subependymomas in Siblings

Cheng, Theresa M.; Coffey, Robert J.; Gelber, Benjamin R.; Scheithauer, Bernd W.

doi:10.1227/00006123-199307000-00025

Cited by 14 publications

(6 citation statements)

References 90 publications

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“…Since that time, more than 100 similar cases have been reported in the literature. With the exception of a very small number of cases that occurred in the brain parenchyma, cerebellopontine angle, and spinal cord, the overwhelming majority of these tumors have occurred within the fourth and lateral ventricles (2,5,(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25). The true incidence of subependymomas is difficult to ascertain because many of the cases occurred in asymptomatic patients and were detected only incidentally at autopsy.…”

Section: Subependymomamentioning

confidence: 99%

“…In a review of 1,000 serial necropsies in asymptomatic patients, Matsumura at al (17) reported the prevalence as 0.4%, compared with a prevalence of 0.7% in 1,000 consecutive craniotomies performed in symptomatic patients. Despite four case reports of subependymomas occurring in siblings, including one set of identical twins, no genetic susceptibility for the tumor has been proved (19,21,26).…”

Section: Subependymomamentioning

confidence: 99%

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From the Archives of the AFIP

Koeller

Sandberg²

2002

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213

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Intraventricular neoplasms are readily seen on cross-sectional images, but the myriad possibilities may make a focused differential diagnosis elusive. Consideration of the tissue within and composing the ventricular lining and the clinical findings provide the means to limit the differential diagnosis when analyzing an intraventricular mass on an imaging study. Ependymomas are typically calcified, are more common in children, are more common in the fourth ventricle, and show intense enhancement on contrast-enhanced images. Subependymomas and central neurocytomas have an affinity for the anterior portion of the lateral ventricle, and both commonly demonstrate a heterogeneous cystic appearance on cross-sectional images. Subependymomas are more common in older adults, whereas central neurocytomas are more common before 40 years of age. Subependymal giant cell astrocytomas always lie near the foramen of Monro and are characterized by frequent calcification, intense enhancement on contrast-enhanced studies, and the presence of other stigmata seen in tuberous sclerosis. When a mass is centered on the choroid plexus, a highly vascular tumor-either choroid plexus papilloma, choroid plexus carcinoma, meningioma, or metastasis-should be suspected. The characteristic heavily lobulated appearance of a choroid plexus tumor favors this diagnosis over other possibilities, although it is not always possible to distinguish between the more common benign form, the choroid plexus papilloma, and the less common malignant counterpart, the choroid plexus carcinoma. By using clinical, demographic, and imaging findings, one can significantly limit the differential diagnosis for many of the most common intraventricular neoplasms.

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Section: Subependymomamentioning

confidence: 99%

Section: Subependymomamentioning

confidence: 99%

From the Archives of the AFIP

Koeller

Sandberg²

2002

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213

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“…Less common sites include the third ventricle, the septum pellucidum and the spinal cord (16). In the vast majority of cases, they develop sporadically, though very occasional familial cases have been described (5, 6, 13, 30). One report describes infratentorial SE occurring in two identical twins (6).…”

Section: Introductionmentioning

confidence: 99%

Genome‐Wide Analysis of Subependymomas Shows Underlying Chromosomal Copy Number Changes Involving Chromosomes 6, 7, 8 and 14 in a Proportion of Cases

et al. 2008

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Subependymomas (SE) are slow-growing brain tumors that tend to occur within the ventricles of middle-aged and elderly adults. The World Health Organization classifies these tumors within the ependymoma group. Previous limited analysis of this tumor type had not revealed significant underlying cytogenetic abnormalities.We have used microarray comparative genomic hybridization to study a series of SE (n = 12). A whole-genome array at 0.97-Mb resolution showed copy number abnormalities in five of 12 cases (42%). Two cases (17%) showed regions of loss on chromosome 6. More detailed analysis of all cases using a chromosome 6 tile-path array confirmed the presence of overlapping regions of loss in only these two cases. One of these cases also showed trisomy chromosome 7. Monosomy of chromosome 8 was seen in a further two cases (17%), and a partial loss on chromosome 14 was observed in one additional case. This is the first array-based, genome-wide study of SE. The observation that five of 12 cases examined (42%) at 0.97-Mb resolution showed chromosomal copy number abnormalities is a novel finding in this tumor type.

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“…To date, only a few familial cases have been described. 3,4,8,19 The occurrence of subependymomas in identical twins supports the Cohnheim-Ribbert theory, which postulates that the persistence and subsequent dedifferentiation of multipotent embryonic cells can underlie tumor development. 4 However, presently we are still unable to answer the question of whether the origin is genetic or maldevelopmental.…”

Section: Discussionmentioning

confidence: 64%

“…2 To date, familial occurrence of subependymomas of the fourth ventricle has been reported only 4 times: twice in siblings, 3,8 in a father and his son, 19 and in identical twin brothers. 4 In this paper we report on the second case of subependymomas of the fourth ventricle in twin siblings.…”

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confidence: 99%

Simultaneous subependymomas in monozygotic female twins: further evidence for a common genetic or developmental disorder background

Noell¹,

Beschorner

Bisdas

et al. 2014

JNS

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S ubependymoma is a rare, benign, slowly growing tumor (WHO Grade I), belonging to the group of ependymal tumors of neuroepithelial tissue. 16 Studies suggest an incidence of subependymoma in 0.2-0.7 of all CNS tumors and approximately 8% of ependymal tumors, 21 with men affected more often than women at a ratio of 2.3:1. The tumor is typically attached to the ventricular wall. The most frequent site of tumor location is the fourth ventricle followed by the lateral ventricles, but subependymomas are also noted in other locations of the CNS. Most subependymomas are asymptomatic. Clinical manifestations of these tumors are due to obstructive hydrocephalus or symptoms of brainstem compression by large tumors of the fourth ventricle. 20 In some cases, spinal subependymomas can cause paraplegia. Spontaneous intratumoral hemorrhage may also occur. In large tumor cysts, calcifications may be also observed.14 In 1896, Besold described brain tumors in siblings and twins for the first time.2 To date, familial occurrence of subependymomas of the fourth ventricle has been reported only 4 times: twice in siblings, 3,8 in a father and his son, 19 and in identical twin brothers. 4 In this paper we report on the second case of subependymomas of the fourth ventricle in twin siblings. In our cases, the tumors occurred in 41-year-old identical twin sisters. This is the first time subependymomas have been described in female monozygotic twins. Written informed consent to the publication of the clinical data and corresponding images was obtained from the patients. Case ReportsPresentations and Operations. Cases 1 and 2 were 41-year-old monozygotic twin sisters, who were born after a normal pregnancy. Until recently, neither of the sisters had shown any symptoms. However, 1 sister (Case 1) complained of morning vomiting, balance disturbance, In this paper, a rare case of subependymoma of the fourth ventricle in identical female twins is reported. Magnetic resonance imaging and CT showed nearly identical locations of the tumors in the fourth ventricle and similar growth patterns of the tumors in both sisters. Likewise, postoperative histopathological analysis of both tumors revealed the typical histological appearance of subependymomas. Subependymoma is a rare, low-grade glioma of the CNS, slowly growing and usually asymptomatic. If symptomatic, a subependymoma can in some cases lead to sudden death caused by pressure on the brainstem or decompensated secondary hydrocephalus. This case demonstrates the importance of detecting tumors early and thereby preventing symptoms arising from increasing intracranial pressure, and optimizing therapy options.

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Simultaneous Presentation of Symptomatic Subependymomas in Siblings

Cited by 14 publications

References 90 publications

From the Archives of the AFIP

From the Archives of the AFIP

Genome‐Wide Analysis of Subependymomas Shows Underlying Chromosomal Copy Number Changes Involving Chromosomes 6, 7, 8 and 14 in a Proportion of Cases

Simultaneous subependymomas in monozygotic female twins: further evidence for a common genetic or developmental disorder background

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