𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Cytogenetic characterization of renal cell carcinoma in von Hippel-Lindau syndrome

✍ Scribed by M. David Goodman; Barbara K. Goodman; Matthew B. Lubin; Rhona R. Schreck; Glenn Braunstein; Jerome I. Rotter

Publisher
John Wiley and Sons
Year
1990
Tongue
English
Volume
65
Category
Article
ISSN
0008-543X

No coin nor oath required. For personal study only.

✦ Synopsis

We report the case of a 26-year-old man with von Hippel-Lindau syndrome (VHL) and two renal cell carcinomas (RCC), one of which was studied cytogenetically. Chromosomal analysis of the RCC showed a translocation that involved chromosomes 3 and 8 with subsequent loss of the derivative chromosome 8. The patient's peripheral lymphocytes showed a normal karyotype that indicated that there was not a constitutional chromosomal translocation. This is the third reported case of RCC in a patient with V H L in which loss of a portion of the short arm of chromosome 3 (3p) has occurred. Similar chromosomal changes that involve 3p have been reported in both familial and sporadic cases of RCC and have led to speculation that a tumor suppressor gene may be located in this region. Cytogenetic characterization of renal tumors could assume increasing significance in the diagnosis and classification of RCC and potentially may guide therapy. These studies may also lead to a better understanding of the biologic behavior of RCC and result in more informed patient evaluation and counseling.

📜 SIMILAR VOLUMES

Molecular cytogenetic characterization o
Molecular cytogenetic characterization of early and late renal cell carcinomas in Von Hippel-Lindau disease
✍ John L. Phillips; B. Michael Ghadimi; Danny Wangsa; Hesed Padilla-Nash; Robert W 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 463 KB

## Abstract Deletions of 3p25, gains of chromosomes 7 and 10, and isochromosome 17q are known cytogenetic aberrations in sporadic renal cell carcinoma (RCC). In addition, a majority of RCCs have loss of heterozygosity (LOH) of the Von Hippel‐Lindau (__VHL__) gene located at chromosome band 3p25. Pa

Copy number profiling in von hippel-lind
Copy number profiling in von hippel-lindau disease renal cell carcinoma
✍ Salwati Shuib; Wenbin Wei; Hariom Sur; Mark R. Morris; Dominic McMullan; Eleanor 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 802 KB

## Abstract Germline mutations in the __VHL__ tumor suppressor gene cause von Hippel‐Lindau (VHL) disease and somatic __VHL__ mutations occur in the majority of clear cell renal cell carcinoma (cRCC). To compare copy number abnormalities (CNAs) between cRCC from VHL patients and sporadic cRCC cases

Somatic von Hippel–Lindau disease gene m
Somatic von Hippel–Lindau disease gene mutation in clear-cell renal carcinomas associated with end-stage renal disease/acquired cystic disease of the kidney
✍ Minoru Yoshida; Masahiro Yao; Isao Ishikawa; Takeshi Kishida; Yoji Nagashima; Ke 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 457 KB 👁 1 views

## Abstract It has been documented that renal cell carcinomas (RCCs) occur frequently in patients treated with long‐term dialysis, especially in cases of end‐stage renal disease (ESRD)/acquired cystic disease of the kidney (ACDK). To address the molecular pathogenesis of ESRD/ACDK‐associated RCCs,