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Cytogenetic characterization of renal cell carcinoma in von Hippel‐Lindau syndrome
Author(s) -
Goodman M. David,
Goodman Barbara K.,
Lubin Matthew B.,
Schreck Rhona R.,
Braunstein Glenn,
Rotter Jerome I.
Publication year - 1990
Publication title -
cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.052
H-Index - 304
eISSN - 1097-0142
pISSN - 0008-543X
DOI - 10.1002/1097-0142(19900301)65:5<1150::aid-cncr2820650520>3.0.co;2-p
Subject(s) - chromosomal translocation , renal cell carcinoma , karyotype , medicine , chromosome , pathology , von hippel–lindau disease , chromosomal analysis , cancer research , clear cell , cytogenetics , oncology , genetics , biology , gene , disease
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 VHL 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.