Brachmann-Cornelia de Lange syndrome with a papilloma of the choroid plexus: analyses of molecular genetic characteristics of the patient and the tumor. A single-case study

León, Fernando Chico-Ponce de; Gordillo-Domínguez, Luis Felipe; González-Carranza, Vicente; Torres-García, Samuel; García-Delgado, Constanza; Sánchez-Boiso, Adriana; Arenas-Huertero, Francisco; Pérezpeña-Díazconti, Mario; Eguía-Aguilar, Pilar; Baqueiro-Hernández, César Iván; Buenrostro-Márquez, Guillermo; Martínez-Rodríguez, S.; Dhellemmes, P; Castro-Sierra, Eduardo

doi:10.1007/s00381-014-2504-6

Cited by 6 publications

(1 citation statement)

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“…There are only single reports of different type of tumors co-occurring with CdLS, including suprasellar germinoma [ 21 ], papilloma of the chorioid [ 22 ], adenocarcinoma of the esophagus [ 23 ], hemangioendothelioma, and WT [ 17 ]. The last two were incidental findings at autopsy.…”

Section: Discussionmentioning

confidence: 99%

Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report

et al. 2016

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BackgroundCornelia de Lange syndrome is the prototype for cohesinopathy disorders, which are characterized by defects in chromosome segregation. Kidney malformations, including nephrogenic rests, are common in Cornelia de Lange syndrome. Only one post-mortem case report has described an association between Wilms tumor and Cornelia de Lange syndrome. Here, we describe the first case of a living child with both diseases.Case presentationNon-anaplastic triphasic nephroblastoma was diagnosed in a patient carrying a not yet reported mutation in NIPBL (c.4920 G > A). The patient had the typical facial appearance and intellectual disability associated with Cornelia de Lange syndrome in absence of limb involvement. The child’s kidneys were examined by ultrasound at 2 years of age to exclude kidney abnormalities associated with the syndrome. She underwent pre-operative chemotherapy and nephrectomy. Seven months later she was healthy and without residual detectable disease.ConclusionThe previous report of such co-occurrence, together with our report and previous reports of nephrogenic rests, led us to wonder if there may be any causal relationship between these two rare entities. The wingless/integrated (Wnt) pathway, which is implicated in kidney development, is constitutively activated in approximately 15–20 % of all non-anaplastic Wilms tumors. Interestingly, the Wnt pathway was recently found to be perturbed in a zebrafish model of Cornelia de Lange syndrome. Mutations in cohesin complex genes and regulators have also been identified in several types of cancers. On the other hand, there is no clear evidence of an increased risk of cancer in Cornelia de Lange syndrome, and no other similar cases have been published since the fist one reported by Cohen, and this prompts to think Wilms tumor and Cornelia de Lange syndrome occurred together in our patient by chance.

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Section: Discussionmentioning

confidence: 99%

Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report

et al. 2016

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Cornelia de Lange syndrome and cancer: An open question

Pallotta

Nardo

Hennekam

et al. 2022

American J of Med Genetics Pt A

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Genome stability: What we have learned from cohesinopathies

Cucco¹,

Musio²

2016

American J of Med Genetics Pt C

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Cohesin is a multiprotein complex involved in many DNA-related processes such as proper chromosome segregation, replication, transcription, and repair. Mutations in cohesin gene pathways are responsible for human diseases, collectively referred to as cohesinopathies. In addition, both cohesin gene expression dysregulation and mutations have been identified in cancer. Cohesinopathy cells are characterized by genome instability (GIN) visualized by a constellation of markers such as chromosome aneuploidies, chromosome aberrations, precocious sister chromatid separation, premature centromere separation, micronuclei formation, and sensitivity to genotoxic drugs. The emerging picture suggests that GIN observed in cohesinopathies may result from the synergistic effects of the multiple cohesin dysfunctions. © 2016 Wiley Periodicals, Inc.

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Brachmann-Cornelia de Lange syndrome with a papilloma of the choroid plexus: analyses of molecular genetic characteristics of the patient and the tumor. A single-case study

Abstract: Further analyses of the association of choroid plexus papillomas with disorders of psycho-neural development and its relationship to molecular genetic modifications at chromosome 17p are now under way at HIMFG.

Cited by 6 publications

References 11 publications

Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report

Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report

Cornelia de Lange syndrome and cancer: An open question

Genome stability: What we have learned from cohesinopathies

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