Table 12 Inherited cancer syndromes
From: The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact
Citation | Title | Author affiliation | Case # | Ancestry | Study design | CNS phenotype | Non-CNS phenotype | Type of hydrocephalus | Genetic methodology | Genetic analysis | Inheritance | Genetic findings |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Demir et al., 2011 [359] | WAGR syndrome with tetralogy of Fallot and hydrocephalus | Hacettepe University, Ankara, Turkey | 1 Subject | - | Case study | Isolated hydrocephalus | Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability | Communicating | Cytogenetics | G-banding | De novo | deletion of chromosome 11p13 |
Fukino et al., 2000 [360] | A family with hydrocephalus as a complication of cerebellar hemangioblastoma: identification of Pro157Leu mutation in the VHL gene | Nippon Medical School, Kawasaki-shi, Japan | 2 Subjects | Japanese | Case series | Isolated hydrocephalus | Retinal angioma, cerebellar, hemangioblastomas, pancreatic cysts | Obstructive | TES | Direct sequencing, restriction enzyme analysis | - | 3p25.3 (VHL) |
Kinsler et al., 2013 [90] | Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS | Great Ormond Street Hospital for Children, London, UK | 5 Subjects, Controls used | - | Case series | Arachnoid cysts, syringomyelia, tumors (including astrocytoma, choroid plexus papilloma, ependymoma, and pineal germinoma), Dandy–Walker, and Chiari malformation | Widespread melanocytic nevi | Communicating, Obstructing | TGS, cytogenetics | aCGH, direct sequencing | Non-mendelian inheritance | 1p13.2 (c.181C > A, p.Q61K NRAS mutations) |
Kusakabe et al., 2018 [361] | Combined morphological, immunohistochemical and genetic analyses of medulloepithelioma in the posterior cranial fossa | Ehime University School of Medicine, Toon, Japan | 1 Subject | - | Case study | Medulloepithelioma | Â | Obstructive | Cytogenetics | FISH | - | No C19MC mutations |
Pastorino et al., 2009 [94] | Identification of a SUFU germline mutation in a family with Gorlin syndrome | Università degli Studi di Genova, Genova, Italy | 1 Subject, 1 Control | Caucasian | Case study | Spina bifida | Pits in hands and soles, coarse facies, strabismus, cleft lip and palate, bifid ribs | Obstructive | TGS | MPLA, direct sequencing | AD | 10q24.32 (c.1022 + 1G > A SUFU germ line splicing mutation) |
Reardon et al., 2001 [362] | A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association | Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland | 1 Subject, 2 Parents | - | Case study | Macrocephaly | Hypoplasia of the thumbs bilaterally with radial deviation of the hands, 13 pairs of ribs | Communicating | Cytogenetics, TGS | Karyotyping | AD | 10q23.31 PTEN |
Reichert et al., 2015 [92] | Diagnosis of 9q22.3 microdeletion syndrome in utero following identification of craniosynostosis, overgrowth, and skeletal anomalies | Children's Hospital of Philadelphia, Philadelphia, Pennsylvania | 1 Subject, 2 Parents | - | Case study | Metopic craniosynostosis, intellectual disability, Trigonocephaly | Macrosomia, hepatomegaly, nephromegaly, and anomalous vertebrae | Communicating | Cytogenetics | Karyotyping, SNP, FISH | De novo | 9q22.32 (PTCH1) and 9q22.32 (FANCC) genes 9q22.3 |
Shimkets et al., 1996 [93] | Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients | Yale University School of Medicine, New Haven, CT 06520–8005, USA | 2 Subjects, 4 Parents | African American, Caucasian | Case series | Macrocephalus, agenesis of the corpus callosum | Bilateral inguinal hernias, bilateral conductive hearing loss, strabismus, and ectopic eruption of the upper central incisors, multiple basal cell carcinomas, medulloblastomas, ovarian fibromas | Communicating | Cytogenetics, genotyping, | G-banding, restriction enzyme analysis | AD | chromosome 9q22 deletion and 9q22-q3l |
Uguen et al., 2015 [363] | Severe hydrocephalus caused by diffuse leptomeningeal and neurocutaneous melanocytosis of antenatal onset: a clinical, pathologic, and molecular study of 2 cases | Service d'anatomie et cytologie pathologiques, Brest, F-29220 France; Université Européenne de Bretagne, 29,238 France | 2 Subjects | - | Case series | Leptomeningeal pigmentation, Dandy walker malformation | Melanocytic nevi | Obstructive | Cytogenetics, TGS | aCGH, FISH, pyrosequencing, NGS | - | 1p13.2 (NRAS) |