A rare case of choroid plexus carcinoma that led to the diagnosis of Lynch syndrome (hereditary nonpolyposis colorectal cancer)

Zhu, Viola W.; Hinduja, Sanjay; Knezevich, Stevan R.; Silveira, William R.; Delozier, Celia D.

doi:10.1016/j.clineuro.2017.04.013

Cited by 9 publications

(3 citation statements)

References 4 publications

(3 reference statements)

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“…Other rare genetic diseases associated with CPTs include Aicardi syndrome; X-linked genetic disorder characterized by agenesis of the corpus callosum, chorioretinal lacunae, infantile spasms and increased risk of developing (sometimes multifocal) CPPs [23]. Cases of CPP have also been reported in the context of Hyomelanosis of Ito with translocation (X;17) [24] and CPC in a family with Lynch syndrome (hereditary nonpolyposis colorectal cancer) with MSH6 mutation [25]. Despite the known association with genetic syndromes, large scale sequencing studies of CPPs and aCPPs are lacking, and whole genome sequencing (WGS) performed in three TP53-wildtype and one TP53-mutated CPC did not reveal any other recurrent mutation [26].…”

Section: Biology Of Choroid Plexus Tumorsmentioning

confidence: 99%

Epigenetics impacts upon prognosis and clinical management of choroid plexus tumors

et al. 2020

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Purpose Choroid plexus tumors comprise of choroid plexus papilloma (CPP, WHO grade I), atypical choroid plexus papilloma (aCPP, WHO grade II) and choroid plexus carcinoma (CPC, WHO grade III). Molecular events driving the majority of choroid plexus tumors remain poorly understood. Recently, DNA methylation profiling has revealed different epigenetic subgroups. Methods Comprehensive review of epigenetic profiles of choroid plexus tumors in the context of histopathological, genetic, and clinical features. Summary DNA methylation profiling segregates choroid plexus tumors into three distinct epigenetic subgroups: supratentorial pediatric low-risk choroid plexus tumors (CPP and aCPP), infratentorial adult low-risk choroid plexus tumors (CPP and aCPP), and supratentorial pediatric high-risk choroid plexus tumors (CPP and aCPP and CPC). Epigenetic subgrouping provides additional prognostic information in comparison to histopathological grading. Conclusions Epigenetic profiling of choroid plexus tumors can be used for the identification of patients at risk of recurrence and is expected to play a role for treatment stratification and patient management in the context of future clinical trials.

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Section: Biology Of Choroid Plexus Tumorsmentioning

confidence: 99%

Epigenetics impacts upon prognosis and clinical management of choroid plexus tumors

et al. 2020

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“…Using animal models, we have previously demonstrated that sustained NOTCH1 expression led to CPP arising from monociliated progenitors in the roof plate that proliferate in response to Sonic Hedgehog (SHH) (Eberhart 2016;Li et al 2016). Here, we show that persistent NOTCH and SHH signals in mice drive aggressive tumors that are similar to CPC in humans (Zhu et al 2017;Taher et al 2019). These CP tumors display singular primary cilia resulting from repression of the GEMC1-MCIDAS transcriptional network by NOTCH, whereas biochemical or pharmacological disruption of the NOTCH complex, or Gemc1-Mcidas overexpression, restored multiciliation and suppressed tumor cell proliferation.…”

Section: Introductionmentioning

confidence: 80%

GEMC1-MCIDAS transcriptional program regulates multiciliogenesis in the choroid plexus and acts as a barrier to tumorigenesis

Han

Singh

et al. 2020

Preprint

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Multiciliated cells (MCCs) in the brain include the ependymal cells and choroid plexus (CP) epithelial cells. The CP secretes cerebrospinal fluid that circulates within the ventricular system, driven by ependymal cilia movement. However, the mechanisms and functional significance of multiciliogenesis in the CP remain unknown. Deregulated oncogenic signals cause CP carcinoma (CPC), a rare but aggressive pediatric brain cancer. Here we show that aberrant NOTCH and Sonic Hedgehog signaling in mice drive tumors that resemble CPC in humans. NOTCH-driven CP tumors were monociliated, whereas disruption of the NOTCH complex restored multiciliation and decreased tumor growth. NOTCH suppressed multiciliation in tumor cells by inhibiting the expression of GEMC1 and MCIDAS, early regulators of multiciliogenesis. Consistently, GEMC1-MCIDAS function is essential for multiciliation in the CP, and is critical for correcting multiciliation defect in tumor cells by a NOTCH inhibitor. Disturbances to the GEMC1 program are commonly observed in human CPCs characterized by solitary cilia. Consistently, CPC driven by deletion of Trp53 and Rb1 in mice exhibits a cilia deficit consequent to loss of Gemc1-Mcidas expression. Taken together, these findings reveal a GEMC1-MCIDAS multiciliation program in the CP critical for inhibiting tumorigenesis, and it may have therapeutic implications for the treatment of CPC.

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“…Кроме синдрома Ли-Фраумени мы нашли описание клинического случая ХК у взрослой пациентки с синдромом Линча. У нее была выявлена герминальная мутация в гене MSH6 и соматические мутации в генах PTEN, VHL, NOTCH1, RB1 и TP53 [23].…”

Section: другие генетические находкиunclassified

Choroid plexus carcinoma: review of literature

Valiakhmetova

Papusha

Yasko

et al. 2020

Ross. ž. det. gematol. onkol.

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Choroid plexus carcinoma (CPC) is a rare malignant tumor arising from the epithelium of the choroid plexus of the brain. More than 80 % of CPCs occur in children. Mutations in the TP53 gene is played the main role in the pathogenesis of these tumors. Choroid plexus carcinomas in 40 % of cases are associated with Li–Fraumeni syndrome. Survival rates in patients with CPC and Li–Fraumeni syndrome are extremely low. The standards of the therapy for patients with CPC are not defined. The extent of surgical resection and treatment modality correlate with prognosis. The role of adjuvant therapy in CPC remains unclear: doses and volumes of radiation therapy (RT), combinations of chemotherapeutic drugs, timing, and a combination of RT and chemotherapy (CT) have not been identified. Also, there is neither a standard CT regimen nor a prospective international study assessing the efficacy and toxicity of various combinations of cytostatics in patients with CPC. The article presents an overview of the existing molecular genetic changes, existing methods for the diagnosis and treatment of choroid plexus carcinoma.

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A rare case of choroid plexus carcinoma that led to the diagnosis of Lynch syndrome (hereditary nonpolyposis colorectal cancer)

Cited by 9 publications

References 4 publications

Epigenetics impacts upon prognosis and clinical management of choroid plexus tumors

Epigenetics impacts upon prognosis and clinical management of choroid plexus tumors

GEMC1-MCIDAS transcriptional program regulates multiciliogenesis in the choroid plexus and acts as a barrier to tumorigenesis

Choroid plexus carcinoma: review of literature

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