Retinal anaplastic pleomorphic xanthoastrocytoma unassociated with phakomatosis

Navahi, Roshanak Aliakbar; Babaheidarian, Pegah; Sedaghat, Ahad; Naseripour, Masood; Aghai, Gholamhoseyn; Mardani, Azam; Ahangarani, Mohammadreza

doi:10.1016/j.joco.2018.09.005

Cited by 2 publications

(2 citation statements)

References 18 publications

(36 reference statements)

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“…Children with monosomy 3 in uveal melanoma tissue should be offered genetic counseling and molecular genetic analysis of constitutional DNA. Retinal astrocytoma are benign tumors of the retina that occur sporadic or as first signs of genetic syndromes such as TSC or NF1 [ 21 , 22 , 23 ]. Children with retinal astrocytoma need careful pediatric examination for other signs of genetic syndrome and may benefit from genetic counseling.…”

Section: Discussionmentioning

confidence: 99%

“…Individuals with constitutional pathogenic variants in the BAP1 -gene have a BAP1-Tumor predisposition syndrome (BAP1-TPDS), which is associated with an increased risk of uveal melanoma, mesothelioma, cutaneous melanoma and clear cell renal carcinoma [ 19 , 20 ]. Retinal astrocytoma is a rare eye tumor arising from retinal glial cells in early childhood that occur in patients with tuberous sclerosis (TSC) (57% of retinal astrocytomas) or patients with neurofibromatosis type I (14% of children with retinal astrocytoma) while 29% of children with retinal astrocytoma do not carry a known underlying tumor predisposition syndrome [ 21 , 22 , 23 , 24 ]. A benign retinal tumor is the retinal hemangioblastoma with an incidence of 1:40,000, which is approximately half the incidence of retinoblastoma and is commonly, but not always, associated with the von Hippel Lindau Syndrome [ 25 ].…”

Section: Introductionmentioning

confidence: 99%

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Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria

Reschke

Biewald

Bronstein

et al. 2021

Cancers

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Retinoblastoma and other eye tumors in childhood are rare diseases. Many eye tumors are the first signs of a genetic tumor predisposition syndrome and the affected children carry a higher risk of developing other cancers later in life. Clinical and genetic data of all children with eye tumors diagnosed between 2013–2018 in Germany and Austria were collected in a multicenter prospective observational study. In five years, 300 children were recruited into the study: 287 with retinoblastoma, 7 uveal melanoma, 3 ciliary body medulloepithelioma, 2 retinal astrocytoma, 1 meningioma of the optic nerve extending into the eye. Heritable retinoblastoma was diagnosed in 44% of children with retinoblastoma. One child with meningioma of the optic nerve extending into the eye was diagnosed with neurofibromatosis 2. No pathogenic constitutional variant in DICER1 was detected in a child with medulloepithelioma while two children did not receive genetic analysis. Because of the known association with tumor predisposition syndromes, genetic counseling should be offered to all children with eye tumors. Children with a genetic predisposition to cancer should receive a tailored surveillance including detailed history, physical examinations and, if indicated, imaging to screen for other cancer. Early detection of cancers may reduce mortality.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria

Reschke

Biewald

Bronstein

et al. 2021

Cancers

View full text Add to dashboard Cite

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Rare Neuronal, Glial and Glioneuronal Tumours in Adults

Crainic

Furtner

Pallud

et al. 2023

Cancers

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Rare glial, neuronal and glioneuronal tumours in adults form a heterogeneous group of rare, primary central nervous system tumours. These tumours, with a glial and/or neuronal component, are challenging in terms of diagnosis and therapeutic management. The novel classification of primary brain tumours published by the WHO in 2021 has significantly improved the diagnostic criteria of these entities. Indeed, diagnostic criteria are nowadays multimodal, including histological, immunohistochemical and molecular (i.e., genetic and methylomic). These integrated parameters have allowed the specification of already known tumours but also the identification of novel tumours for a better diagnosis.

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Retinal anaplastic pleomorphic xanthoastrocytoma unassociated with phakomatosis

Cited by 2 publications

References 18 publications

Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria

Eye Tumors in Childhood as First Sign of Tumor Predisposition Syndromes: Insights from an Observational Study Conducted in Germany and Austria

Rare Neuronal, Glial and Glioneuronal Tumours in Adults

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