Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation - PubMed (original) (raw)

Case Reports

. 2017 Jan;64(1):100-102.

doi: 10.1002/pbc.26197. Epub 2016 Aug 31.

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Case Reports

Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation

Laurel Truscott et al. Pediatr Blood Cancer. 2017 Jan.

Abstract

Adolescent brothers were diagnosed with testicular germ cell tumors within the same month. Both were found to have multiple renal cysts on pretreatment imaging done for staging. The proband, his brother, and their mother, were all found to have a novel splice variant in intron 8 of the PKD1 gene by clinical exome sequencing. This is the second family reported with both familial testicular germ cell tumor (FTGCT) and autosomal dominant polycystic kidney disease (ADPKD), and the first described association of FTGCT with a splice variant in PKD1. We suggest that this novel variant in PKD1 may convey increased risk for FTGCT in addition to causing ADPKD.

Keywords: PKD1; exome sequencing; familial testicular germ cell tumor.

© 2016 Wiley Periodicals, Inc.

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Conflict of interest statement

Conflict of Interest Statement

No conflicts of interest to disclose.

Figures

Figure 1

Figure 1

Four generation pedigree.

Figure 2

Figure 2

Exome sequencing reads (blue: forward reads; green: reverse reads) around the PKD1 variant c.1723-1G>A (red vertical box) are plotted for the proband, brother, and mother with only the alternate allele shown in squares within each read. Y-axis is depth-of-coverage and number of reads supporting the reference allele (Ref: C) and alternate allele (Alt: T) is noted for each case.

References

    1. Greene MH, Mai PL, Loud JT, et al. Familial testicular germ cell tumors (FTGCT) – overview of a multidisciplinary etiologic study. Andrology. 2014 Oct 9; doi: 10.1111/andr.294. -DOI -PubMed
    1. Teh BT, Linblad K, Nord B, et al. Familial testicular cancer: lack of evidence for trinucleotide repeat expansions and association with PKD1 in one family. J Med Genet. 1999 Apr;36(4):348–9. -PMC -PubMed
    1. Al-Jehani RM, Povey S, Delhanty JD, et al. Loss of heterozygosity on chromosome arms 5q, 11p, 13q, and 16p in human testicular germ cell tumors. Genes Chromosomes Cancer. 1995 Aug;13(4):249–56. -PubMed
    1. Exome Aggregation Consortium. The Broad Institute; Retrieved January 2015 from http://exac.broadinstitute.org.
    1. The European Polycystic Kidney Disease Consortium. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell. 1994;77(6):881–894. -PubMed

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