P. Bugert et G. Kovacs, MOLECULAR DIFFERENTIAL-DIAGNOSIS OF RENAL-CELL CARCINOMAS BY MICROSATELLITE ANALYSIS, The American journal of pathology, 149(6), 1996, pp. 2081-2088
Recent application of molecular cytogenetic techniques has resulted in
a new type of genetic classification of renal cell tumors. The key as
pect of the novel diagnostic concept is reflected by biologically dist
inct entities, each characterized by a specific combination of genetic
changes. To work out a diagnostic/prognostic approach, we have applie
d polymorphic microsatellite markers for a quick analysis, based on po
lymerase chain reaction, of 82 tumor specimens We compared the results
to previously, evaluated cytogenetic and histological data, ALE nonpa
pillary and chromophobe renal cell carcinomas, which make up approxima
tely 90% of all malignant renal cell tumors, and a subset of renal onc
ocytomas were correctly diagnosed by detection of loss of heterozygosi
ty at chromosomal sites 1, 2, and 3p. Allelic losses at chromosomal re
gions 8p, 9p, and 14q are associated with an advanced pathological sta
ge of nonpapillary renal cell carcinomas. A loss of heterozygosity at
chromosomes 6, 10, 13, 17, and 21, in addition to those at chromosomes
1 and 2, confirm the diagnosis of chromophobe renal cell tumors. Usin
g this approach, the differential diagnosis of renal cell tumors could
be carried oat within 1 or 2 days.