Literature DB >> 29525880

Germline VHL gene variant in patients with von Hippel-Lindau disease does not predict renal tumor growth.

Faraz Farhadi1, Moozhan Nikpanah1, Xiaobai Li2, Rolf Symons1, Amir Pourmorteza1, Maria J Merino3, W Marston Linehan3, Ashkan A Malayeri4.   

Abstract

PURPOSE: To determine whether the type of VHL gene pathogenic variant influences the growth rate or CT enhancement values of renal lesions in VHL patients.
MATERIALS AND METHODS: Thirty-two VHL patients (19 male) were selected from a prospectively maintained imaging database for patients that underwent surgical tumor resection between 2014 and 2016. One hundred and eleven VHL lesions were marked for resection and pathology analysis. Whole lesion volumetric segmentation was performed on nephrographic phase of the two most recent contrast-enhanced CT scans before surgery. Intensity distribution curves were obtained from segmentations. A linear mixed model, accounting for within-patient correlations, was used to compare the growth and enhancement differences between different germline pathogenic variant types.
RESULTS: There was no significant difference for the lesions' total growth between different germline pathogenic variants (P value = 0.78). The median growth rate for all lesions was 1.7 cc/year (IQR 0.5, 3.9) with a baseline median size of 4.1 cm3 (IQR 1.7, 11.7). In complex lesions, the solid portion of the tumor demonstrated a higher growth rate (1.6 cc/year) than cystic portions (0.02 cc/year) which stayed relatively unchanged. Only one pathogenic variant (Splice donor) showed some levels of difference in its relative enhancement from other subtypes.
CONCLUSION: The type of germline pathogenic variant on the VHL gene does not affect the growth rate or CT enhancement values of renal lesions in patients with VHL. The absolute growth rate of these tumors may be used in the scheduling of follow-up studies.

Entities:  

Keywords:  Computed tomography (CT); Growth rate; Pathogenic variant; Volumetric analysis; von Hippel-Lindau

Mesh:

Substances:

Year:  2018        PMID: 29525880      PMCID: PMC8057112          DOI: 10.1007/s00261-018-1540-1

Source DB:  PubMed          Journal:  Abdom Radiol (NY)


  22 in total

Review 1.  Alterations in VHL as potential biomarkers in renal-cell carcinoma.

Authors:  Lucy Gossage; Tim Eisen
Journal:  Nat Rev Clin Oncol       Date:  2010-04-06       Impact factor: 66.675

2.  Evaluation of renal masses considered indeterminate on computed tomography.

Authors:  D M Balfe; B L McClennan; R J Stanley; P J Weyman; S S Sagel
Journal:  Radiology       Date:  1982-02       Impact factor: 11.105

3.  Survival and causes of death in patients with von Hippel-Lindau disease.

Authors:  Marie Louise Mølgaard Binderup; Annette Møller Jensen; Esben Budtz-Jørgensen; Marie Luise Bisgaard
Journal:  J Med Genet       Date:  2016-08-18       Impact factor: 6.318

Review 4.  von Hippel-Lindau disease: a clinical and scientific review.

Authors:  Eamonn R Maher; Hartmut Ph Neumann; Stéphane Richard
Journal:  Eur J Hum Genet       Date:  2011-03-09       Impact factor: 4.246

5.  Clinical features and natural history of von Hippel-Lindau disease.

Authors:  E R Maher; J R Yates; R Harries; C Benjamin; R Harris; A T Moore; M A Ferguson-Smith
Journal:  Q J Med       Date:  1990-11

6.  Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.

Authors:  B Zbar; T Kishida; F Chen; L Schmidt; E R Maher; F M Richards; P A Crossey; A R Webster; N A Affara; M A Ferguson-Smith; H Brauch; D Glavac; H P Neumann; S Tisherman; J J Mulvihill; D J Gross; T Shuin; J Whaley; B Seizinger; N Kley; S Olschwang; C Boisson; S Richard; C H Lips; M Lerman
Journal:  Hum Mutat       Date:  1996       Impact factor: 4.878

7.  The relationship between renal tumor size and metastases in patients with von Hippel-Lindau disease.

Authors:  Branden G Duffey; Peter L Choyke; Gladys Glenn; Robert L Grubb; David Venzon; W Marston Linehan; McClellan M Walther
Journal:  J Urol       Date:  2004-07       Impact factor: 7.450

Review 8.  von Hippel-Lindau disease.

Authors:  Russell R Lonser; Gladys M Glenn; McClellan Walther; Emily Y Chew; Steven K Libutti; W Marston Linehan; Edward H Oldfield
Journal:  Lancet       Date:  2003-06-14       Impact factor: 79.321

9.  The natural history of renal lesions in von Hippel-Lindau disease: a serial CT study in 28 patients.

Authors:  P L Choyke; G M Glenn; M M Walther; B Zbar; G H Weiss; R B Alexander; W S Hayes; J P Long; K N Thakore; W M Linehan
Journal:  AJR Am J Roentgenol       Date:  1992-12       Impact factor: 3.959

Review 10.  von Hippel-Lindau disease: genetic, clinical, and imaging features.

Authors:  P L Choyke; G M Glenn; M M Walther; N J Patronas; W M Linehan; B Zbar
Journal:  Radiology       Date:  1995-03       Impact factor: 11.105

View more
  1 in total

1.  Clear Cell Renal Cell Carcinoma Growth Correlates with Baseline Diffusion-weighted MRI in Von Hippel-Lindau Disease.

Authors:  Faraz Farhadi; Moozhan Nikpanah; Anna K Paschall; Ahmad Shafiei; Ashkan Tadayoni; Mark W Ball; W Marston Linehan; Elizabeth C Jones; Ashkan A Malayeri
Journal:  Radiology       Date:  2020-04-07       Impact factor: 11.105

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.