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PubMed1986

Chromosomal abnormalities in lymphoma and their correlations with nucleic acid flow cytometry.

Cytogenetic studies were performed on 25 samples obtained from 25 patients with lymphoma. Fourteen of these were also simultaneously studied with nucleic acid flow cytometry to determine percent S-phase and DNA content (ploidy). In 17 cases (68%), evaluable metaphases were obtained. The evaluable metaphase rate was higher in previously untreated patients (15/19 or 79%). All but two cases showed abnormal karyotype. All five cases showing either the t(8;14) or t(8;22) abnormality were associated with extremely high percent S-phase values, ranging from 36% to 47%, which is in the range of high-grade lymphomas according to our previous experience. Four of these cases were diagnosed as Burkitt's lymphoma and one as diffuse large cell lymphoma. Further review of this latter case resulted in the pathologic diagnosis being changed to Burkitt's lymphoma. Three patients had either numerical or structural abnormalities of chromosome #21 [two cases of extra chromosomes and one i(21q)]. All three cases were diagnosed as diffuse large cell lymphoma. Four instances of trisomy 12 were identified. Only one of these was diagnosed as diffuse well-differentiated lymphocytic lymphoma. The remaining three were Burkitt's lymphoma in two and diffuse large cell lymphoma in one. Two instances of t(14;18) were observed. This is the characteristic abnormality of follicular lymphomas. One of these cases was a follicular large cell lymphoma. The second case had possibly originated from a follicular mixed lymphoma and had evolved into a diffuse mixed cell type. Both of these cases had low S-phase values in the range of low-grade lymphomas. The correlation between ploidy as determined by flow cytometry and cytogenetic analysis was good whenever the DNA index was elevated. However, when the DNA index was 1.0 (diploid), concordant measurements were observed in only five of eight cases. Flow cytometry detected one instance of clearly abnormal ploidy, which was thought to be diploid by cytogenetics. This case most likely represents a "false negative" cytogenetic determination.

Adolescent↗

PubMed1983

Chromosome abnormalities in B-cell prolymphocytic leukemia: a study of nine cases.

Chromosome abnormalities were demonstrated in 50-100% of Giemsa-banded metaphases from nine cases of B-cell prolymphocytic leukemia (B-PLL). Mitoses were obtained with pokeweed mitogen following pretreatment of peripheral blood (PB) prolymphocytes with neuraminidase-galactose oxidase. Chromosome 14 was abnormal in eight of the nine cases: a marker 14q+, with breakpoint at band q32 in seven and trisomy 14 in one. In four cases the abnormal No. 14 was one of several primary abnormalities and in four others it was seen in secondary clones. The origin of the translocated material was unknown in three cases, in two it resulted from t(11;14), later becoming t(11;14;21) in one of them, t(1;14) in another, progressing later to t(1;14;17); in yet another patient, the 14q+ was the result of a complex rearrangement t(6;14;17). Abnormalities of chromosome 6 were seen in six cases: 6q- as the primary abnormality in three; trisomy 6 was part of secondary changes in one case. Structural abnormalities of chromosome 1 were seen in six cases: 1q- in four (in one as the only abnormality), 1q+ in one case, and 1p- in another, both in the main clone. Trisomy 12 was demonstrated in three cases but not as the primary change. Spleen cells in two patients showed a higher frequency of abnormalities than in the PB, supporting the concept of the spleen being the organ primarily involved in B-PLL. Evidence of karyotypic evolution was demonstrated in six patients, in some clearly associated with clinical progression of the disease. The type and frequency of the abnormalities observed in B-PLL resemble those seen in non-Hodgkin's lymphomas and suggest major differences from B-CLL, although a relationship with the latter can not be completely ruled out at present.

Aged↗

PubMed2005

First-trimester screening for chromosomal abnormalities.

There is extensive evidence that effective screening for major chromosomal abnormalities can be provided in the first trimester of pregnancy. Randomized studies have established that the risk of miscarriage from chorionic villus sampling in the first trimester is the same as for amniocentesis in the second trimester. Prospective studies have demonstrated that screening by a combination of fetal nuchal translucency (NT) and maternal serum free-beta-human chorionic gonadotropin (hCG) and pregnancy-associated plasma protein-A (PAPP-A) can identify 90% of fetuses with trisomy 21 and other major chromosomal abnormalities for a false-positive rate of 5%. This is superior to the 30% detection rate achieved by maternal age and 65% by second-trimester maternal serum biochemistry. A further improvement in the effectiveness of first-trimester screening is likely to be achieved by a risk-orientated two-stage approach. In this, the patients are subdivided into a high-risk group, requiring invasive testing, a low-risk group, which can be reassured that an abnormality is unlikely, and an intermediate-risk group (risk of 1 in 101 to 1 in 1000), in which further assessment is performed by first-trimester ultrasound examination (for presence/absence of the nasal bone or presence/absence of tricuspid regurgitation or normal/abnormal Doppler velocity waveform in the ductus venosus), and chorionic villus sampling is performed if their adjusted risk becomes 1 in 100 or more. As with all aspects of good clinical practice, those performing first-trimester scans should be appropriately trained and their results subjected to external quality assurance. This process was well established by the Fetal Medical Foundation several years ago and is widely accepted internationally.

Chorionic Gonadotropin↗

PubMed2005

Chromosomal abnormalities in macroscopically normal urothelium in patients with bladder pT1 and pT2a urothelial carcinoma: a fluorescence in situ hybridization study and correlation with histologic features.

OBJECTIVE: To analyze chromosomal abnormalities in macroscopically normal urothelium in patients with bladder pT1 and pT2a urothelial carcinoma and correlate the changes with histologic features. STUDY DESIGN: Cytologic touch preparations of the tumors and of the adjacent and distant urothelium were obtained from 8 bladders with urothelial carcinoma. Fluorescence in situ hybridization (FISH) was used to detect abnormalities of chromosomes 3, 7, 9 and 17 and of the 9p21 locus. RESULTS: The macroscopically normal urothelium adjacent to and distantfrom neoplastic foci was either normal looking microscopically or showed histologic changes ranging from hyperplasia to dysplasia and carcinoma in situ. FISH analysis detected chromosome gains and 9p21 deletion similar to those present in the urothelial carcinoma even though the percentage of altered nuclei was lower, especially in hyperplasia. The microscopically normal urothelium showed minor abnormalities in terms of gain for all the chromosomes investigated. CONCLUSION: Even though urothelium looks normal from the macroscopic point of view, it frequently harbors histologic changes and chromosomal abnormalities. These findings are of clinical significance since they might represent genetic alterations involved in recurrence and/or progression of urothelial carcinoma.

Aged↗

PubMed2001

Uterine artery Doppler at 11-14 weeks of gestation in chromosomally abnormal fetuses.

OBJECTIVE: To determine whether the major chromosomal abnormalities are associated with impaired placentation in the first trimester of pregnancy. METHODS: This was a prospective study of 692 singleton pregnancies undergoing fetal karyotyping at 11-14 weeks of gestation. Uterine artery Doppler was carried out and the mean pulsatility index was calculated just before chorionic villus sampling. RESULTS: The fetal karyotype was normal in 613 pregnancies and abnormal in 79, including 39 cases of trisomy 21, 11 of trisomy 18, 11 of trisomy 13, eight of Turner syndrome and 10 with other defects. There were no significant differences in the median value of uterine artery mean PI between any of the individual groups. Although in the combined group of trisomy 18, trisomy 13 and Turner syndrome fetuses, the median pulsatility index (1.60) was significantly higher than in the chromosomally normal group (median pulsatility index, 1.51; P = 0.021), in the majority of abnormal fetuses (24 of 30) mean pulsatility index was below the 95th centile of the normal group (mean pulsatility index, 2.34). There was no significant association between uterine artery mean pulsatility index and fetal nuchal translucency thickness or fetal growth deficit. CONCLUSIONS: The high intrauterine lethality and fetal growth restriction associated with the major chromosomal abnormalities are unlikely to be the consequence of impaired placentation in the first trimester of pregnancy.

Chromosome Disorders↗

PubMed1998

[Prenatal diagnosis. II. Importance of ultrasonographic markers in prenatal diagnosis of chromosome abnormalities].

The Medical Genetic Unit of the University of Zulia (MGUUZ) has developed a Prenatal Diagnosis Program (PDP) since January-1993, in which Genetic Risk Factors are determined in couples who request prenatal genetic counseling. In this program, different prenatal diagnostic procedures are performed to detect congenital defects during intrauterine life. One of these procedures is the Fetal Sonogram (FS). FS is a non invasive technique which permits the prenatal diagnosis of many genetic dysmorphic syndromes. Through the search of abnormal specific characteristics in the fetus, chromosomopathies may be suspected. These findings are named "Echosonographic Markers of Chromosomal Abnormalities" (EMCA). During three years (January-1993 to December-1996), patients attended in the PDP included 321 pregnant women in which 312 FS were performed. Abnormal outcomes were 22 (17 with isolated congenital malformations and 5 with EMCA). Only one fetus with chromosome abnormality (46,XX21q-) could not be detected by FS. The goals of this paper are: 1) to report 5 patients with sonographic markers suggestive of chromosomal abnormalities and 2) to show the FS usefulness in prenatal diagnosis of chromosompathies. We conclude that, in the search of the EMCA the FS should be offered systematically to all pregnant women without recognizable genetic risk. They are the main group with optimal reproductive age and in consequence, with the possibility of having a relatively major number of conception outcomes with congenital defects, with or without chromosomic etiology. The majority of those defects can be detected by FS and could allow us to select the patients in which the use of an invasive prenatal diagnostic procedure could be justified.

Adolescent↗

PubMed1990

Electrophoresis of phosphoglycerate kinase-2 to determine testicular damage induced by ethylene glycol monomethyl ether and sterility associated with chromosomal abnormality.

Phosphoglycerate kinase (PGK, EC 2.7.2.3), which is expressed specifically in sperm and spermatids, is an enzyme in the Embden-Meyerhof pathway that converts glucose to pyruvate. We developed an electrophoresis method to determine relative PGK-2 quantity and applied it to evaluate spermatogenesis activity. In the ethylene glycol monomethyl ether (EGME)-induced testicular toxicity, relative PGK-2 quantity had not decreased until 4 weeks of exposure. Mean relative PGK-2 quantities, defined as PGK-2 quantity over PGK-1 quantity in a pooled spleen sample (+/- SD) were: 1.43 +/- 0.32 for control animals (N = 10); 1.67 +/- 0.24 for the group exposed at 500 mg/kg for 5 days (N = 6); 1.85 +/- 0.58 for the group exposed at 500 mg/kg for 2 weeks (N = 6); 0.09 +/- 0.06 for the group exposed at 500 mg/kg for 4 weeks (N = 6); not detectable in animals exposed at 500 mg/kg for 5 weeks (N = 7); 0.208 +/- 0.103 for the group exposed at 250 mg/kg for 5 weeks (N = 6); and 1.35 +/- 0.38 for the group exposed at 125 mg/kg for 5 weeks (N = 6). These relative quantities showed a good correlation with sperm/spermatid counts (r = 0.823, p less than 0.01) and histological findings. These findings suggest that EGME has toxicity on primary spermatocytes and spermatogonia. In the case of sterility associated with a chromosomal abnormality (chromosomal translocation between chromosome X and 16), relative PGK-2 quantity was not detected in any of the seven adult (12 weeks of age) mice, although many primary spermatocytes were detected by histological examination.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗

PubMed2004

Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities.

There is extensive evidence that effective screening for major chromosomal abnormalities can be provided in the first trimester of pregnancy. Prospective studies in a total of 200,868 pregnancies, including 871 fetuses with trisomy 21, have demonstrated that increased nuchal translucency can identify 76.8% of fetuses with trisomy 21, which represents a false-positive rate of 4.2%. When fetal nuchal translucency was combined with maternal serum free-beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A in prospective studies in a total of 44,613 pregnancies, including 215 fetuses with trisomy 21, the detection rate was 87.0% for a false-positive rate of 5.0%. Studies from specialist centers with 15,822 pregnancies, which included 397 fetuses with trisomy 21, have demonstrated that the absence of the nasal bone can identify 69.0% of trisomy 21 fetuses, which represents a false-positive rate of 1.4%. It has been estimated that first-trimester screening by a combination of sonography and maternal serum testing can identify 97% of trisomy 21 fetuses, which represents a false-positive rate of 5%, or that the detection rate can be 91%, which represents a false-positive rate of 0.5%. In addition to increased nuchal translucency, important sonographic markers for chromosomal abnormalities, include fetal growth restriction, tachycardia, abnormal flow in the ductus venosus, megacystis, exomphalos and single umbilical artery. Most pregnant women prefer screening in the first, rather than in the second, trimester. As with all aspects of good clinical practice, those care givers who perform first-trimester screening should be trained appropriately, and their results should be subjected to external quality assurance.

Adult↗

PubMed1986

Complex chromosomal abnormalities in acute nonlymphocytic leukemia.

A comparison of chromosome abnormalities between 31 cases of de novo acute nonlymphocytic leukemia (ANLL) with complex karyotypes and 30 cases of secondary ANLL or dysmyelopoietic syndromes (DMS) revealed significant differences. Hyperdiploidy and partial or complete monosomy 5 were more frequent in complex de novo ANLL, whereas, hypo or pseudodiploidy and partial or complete monosomy of chromosome #7 were more frequent in secondary ANLL/DMS. Monosomy 17 and partial deletion of the short arm of chromosome #12 (12p-) occurred more commonly in de novo ANLL and secondary ANLL/DMS, respectively, but were not statistically significant. Therefore, although the abnormalities found in the two groups were of the same basic type, the frequencies of occurrence differed. These findings suggest the role of as yet unknown agents in the etiology of some so called de novo ANLL, and that different mutagenic or carcinogenic agents may produce different chromosomal abnormalities.

Acute Disease↗

PubMedDate not supplied

The impact of prenatal diagnosis on the occurrence of chromosome abnormalities.

From the public health point of view, several formal attempts have been made to measure the impact of prenatal diagnosis (PND) on the incidence of Down's Syndrome (DS), but the results have varied widely. The impact of PND (reduction in the birth rate of chromosomally abnormal neonates) is related to utilization rates but quantitative estimates of this have not been established. In a three-year (1981-1983) total population study from Queensland, Australia, we present results to measure the impact of a voluntary PND programme on the birth incidence of DS, and also other chromosomally abnormal births. Utilization rates for the PND service were 15.5 per cent in that population of mothers 35 years and over. Numbers and rates of all cases of chromosomal abnormalities are presented, subclassified by type of diagnosis--either by PND or by clinical diagnosis after birth. For the total population, 7.3 per cent of cases of DS were detected prenatally, and 15.4 per cent of all chromosome abnormalities. (A method for measuring the impact of PND is described.) Using this in conjunction with our demographic data, we estimate that with a 15 per cent utilization rate of PND by older mothers, 14 per cent of DS births can be prevented in this age group, or a 5 per cent overall reduction can be achieved if mothers of all ages are considered. One index--the ratio of the percentage of DS births which are preventable compared with the population utilization rates of PND--has potential for widespread use. Queensland data for this ratio is 0.34, a figure consistent with that from other studies. Thus a 3.5 per cent drop in the overall DS birth rate may be expected for each 10 per cent increase in the utilization rates of PND for mothers of 35 years and over. A diagram is presented which may serve as a model for improved data collection and better impact estimates in the future.

Adult↗

PubMed1992

Chromosome abnormalities and rare fragile sites detected in azoospermia patients.

We have examined constitutional chromosome abnormalities and fragile sites in 40 patients with azoospermia. Chromosome abnormalities were found in four cases. Three cases showed a deletion of the long arm of the Y chromosome 46,X,del(Yq) and the other case had a ring of G group chromosome 46,XY,r(G). In a rare fragile sites test, four fragile site carriers were detected and three rare autosomal fragile sites were identified; fra(8)(q24.1), fra(11)(p15.1), and fra(17)(p12). The expression of these fragile sites were induced specifically by AT-specific DNA ligands, such as distamycin A and Hoechst 33258. In addition, one patient was found to be the case of double ascertainment of fragile sites, fra(8)(q24.1) and fra(17)(p12). The overall frequency of distamycin A-inducible fragile sites in azoospermia patients appeared to be higher than those reported for Japanese healthy subjects and cancer patients. However, no significant relation among fragile sites, clinical and histological findings has been detected so far.

Chromosome Aberrations↗

PubMed1996

Correlation between CD34 expression and chromosomal abnormalities but not clinical outcome in acute myeloid leukemia.

The hemopoietic stem cell marker CD34 has been reported to be a useful predictor of treatment outcome in acute myeloid leukemia (AML). Previous data suggested that CD34 expression may be associated with other poor prognosis factors in AML such as undifferentiated leukemia, secondary AML (SAML), and clonal abnormalities involving chromosome 5 and 7. In order to analyze the correlations between the clinicopathologic features, cytogenetic and CD34 expression in AML, we retrospectively investigated 99 patients with newly diagnosed AML: 85 with de novo disease and 14 with secondary AML (SAML). Eighty-six patients who received the same induction chemotherapy were available for clinical outcome. Defining a case as positive when > or = 20% of bone marrow cells collected at diagnosis expressed the CD34 antigen, forty-five patients were included in the CD34 positive group. Ninety patients had adequate cytogenetic analysis. Thirty-two patients (72%) with CD34 positive AML exhibited an abnormal karyotype whereas 15 patients (28%) with CD34 negative AML had abnormal metaphases (P < 0.01). Monosomy 7/7q- or monosomy 5/5q- occurred in 10 patients and 8 of them expressed the CD34 antigen (P < 0.05). All patients with t(8;21) which is considered as a favorable factor in AML had levels of CD34 >/= 20% (P < 0.05). We did not find any association between CD34 expression and attainment of complete remission, overall survival, or disease-free survival. In conclusion, the variations of CD34 expression in AML are correlated with cytogenetic abnormalities associated both with poor and favorable outcome. The evaluation of the correlations between CD34 antigen and clinical outcome in AML should take into account the results of pretreatment karyotype.

Acute Disease↗

PubMed2006

Screening for fetal chromosomal abnormalities with nuchal translucency measurement in the first trimester.

OBJECTIVE: To describe the detection rate of first-trimester chromosomal abnormality screening with nuchal translucency (NT) measurement and maternal age in our population. METHODS: We have screened the fetuses between 11 to 14 weeks' gestation according to the Fetal Medicine Foundation's (London) instructions and used the FMF's software to assess the risk based on maternal age, crown-rump length (CRL) and NT. Fetal karyotyping was offered when screening for Down syndrome identified a risk greater than 1 in 300. Sensitivity and false-positive rates were calculated for different cut-offs. RESULTS: Pregnancy outcome was obtained from 4,598 babies of 4,365 mothers. The median maternal age of the 4,365 women was 28.2+/-5.3 (range 15-47) years, and the median fetal CRL was 65.4+/-9.4 (range 45-81) mm. There was risk estimate of >or=1 in 300 in 214 fetuses (4.7%). Chromosomal abnormalities were identified in 32 fetuses, including 19 cases of trisomy 21, and 13 cases of other abnormalities. The sensitivity using NT and maternal age in detecting trisomy 21 with a cut-off 1 in 300 was 73.6% (14/19) with a false-positive rate of 4.7%. At a false-positive rate of 3%, with a cut-off level 1 in 210, the detection rate was 73.6%. The detection rate for all chromosomal abnormalities with a cut-off level 1 in 300 was 68.8% (22/32) at a false-positive rate of 4.7%. CONCLUSION: The first-trimester screening for chromosomal anomalies with NT measurement, when carried out according to the accepted standards of quality, is useful.

Adolescent↗

PubMed1995

Cytogenetic analysis of children suspected of chromosomal abnormalities.

Karyotypes were examined in 122 Omani children suspected of having chromosomal abnormalities. A total of 50 (41 per cent) had an abnormal karyotype: 38 (31 per cent) were Down's syndrome whilst a further 12 (10 per cent) had other types of chromosomal abnormalities. These findings suggest that cytogenetic analysis is useful in the investigations of children with congenital anomalies of unknown origin; to confirm clinical diagnosis in children with known cytogenetic syndromes and for genetic counselling.

Adolescent↗

PubMedDate not supplied

Chromosomal abnormalities in ectopic pregnancy chorionic villi.

OBJECTIVE: To evaluate the incidence of chromosomal abnormalities in ectopic pregnancy chorionic villi. METHODS: A prospective study of patients with the diagnosis of ectopic pregnancy was conducted, with chorionic villi obtained at the time of surgical therapy cultured and analyzed for karyotype. Review of the patient's medical record and ultrasound evaluation was then completed and findings correlated with karyotype results. RESULTS: Twenty-two patients undergoing surgery for the diagnosis of ectopic pregnancy yielded chorionic villi for culture. Successful culture was performed in 21 patients, with 3 (14%) revealing abnormal karyotypes. Review of the medical record showed ultrasound results consistent with fetal development or a gestational sac in 15 of 18 patients with normal chromosomal analysis. Three of 6 patients without fetal development yielded abnormal chromosomal findings. CONCLUSION: Our results confirm that a high degree of success can be achieved in the karyotype analysis of ectopic pregnancy chorionic villi and that these conceptuses have a rate of abnormality similar to that reported for intrauterine gestations. Our data further suggest that when a gestational sac or fetal pole is identified by ultrasound, there is usually a normal karyotype.

Chorionic Gonadotropin, beta Subunit, Human↗

PubMed1999

Cytogenetic analysis of non Hodgkin's lymphomas by ratio-painting and comparative genomic hybridization reveals unsuspected chromosomal abnormalities.

Cytogenetic analysis of cancer cells has proven to be a powerful tool in understanding malignant evolution and in providing clinically useful markers. In recent years the advent of new fluorescence in-situ hybridization (FISH) methods such as ratio-painting and comparative genomic hybridization (CGH) have enabled much more accurate karyotypes of malignant cells to be detected. In this study, we have examined the chromosomes present in malignant cells from a series of 6 low grade follicular centre and 2 high grade diffuse large cell non-Hodgkin's lymphomas (NHL) using conventional G-banding. In all cases chromosome abnormalities were observed, including the presence of marker chromosomes in six cases. The NHL cells were then subjected to the FISH method of ratio-painting. This provided a more accurate understanding of the origins of derivative chromosomes and identified the origins of all of the marker chromosomes. It also revealed hitherto unsuspected abnormalities. For example, in one case four abnormal chromosomes were demonstrated to contain material from chromosome 8, which had not been previously suspected from G-banding. Regions of amplification and deletion on the chromosomes were also investigated by CGH, which identified further unsuspected chromosomal abnormalities. For example, in case L124, trisomy of chromosome 7 was confirmed by CGH, but an unsuspected amplification of 3(p12) was also revealed. These approaches demonstrate the power of FISH technology in providing a more precise analysis of malignant cell chromosomes, and in doing so have produced comprehensive karyotypes of the NHL under study.

Chromosome Aberrations↗

PubMed1978

Chromosome abnormalities and clinical and morphologic manifestations of chronic myeloid leukemia.

Forty cases of chronic myeloid leukemia (CML) were studied and subgroups of cases with similar chromosomal abnormalities in terminal stage were defined. Certain correlations were observed between the type of chromosomal changes, and clinical and morphologic manifestations of the disease: (1) It seems that, in cases without any karyotype changes other than translocation (9;22), the terminal stage is longer and milder than in cases with additional chromosomal abnormalities; (2) cases with marker i(17q) are clinically and morphologically rather uniform and are characterized by distinct signs of myeloid differentiation of blast cells, absent in other cases; (3) in cases with various atypical chromosomal abnormalities, the course of the terminal stage is the most rapid and grave. The blast cells differ from myeloblasts and resemble lymphoid elements.

Adolescent↗

PubMed1999

Chromosomal abnormalities in renal cell neoplasms associated with acquired renal cystic disease. A series studied by comparative genomic hybridization and fluorescence in situ hybridization.

Sporadic renal cell carcinomas (RCCs) display different chromosomal abnormalities according to their morphology; gains of chromosomes 7 and 17 and loss of Y are commonly observed in papillary lesions, whereas loss of 3p sequences and multiple losses of specific chromosomes are found in non-papillary and chromophobe cell carcinomas, respectively. Acquired renal cystic disease (ARCD) is associated with an increased incidence of renal cell tumours, especially papillary lesions. The aim of this study was to examine a series of ARCD-related tumours for chromosomal abnormalities and to compare the findings with those abnormalities commonly observed in sporadic RCCs. Nine tumours from four patients with ARCD were examined using comparative genomic hybridization (CGH) and interphase cytogenetics. Gain of chromosomes 7 and 17 was observed in all four papillary lesions and loss of Y in three. In addition, gain of chromosome 16 was observed in three papillary tumours. Three chromophobe RCCs originating from the same kidney showed different genomic profiles; two had no abnormalities, whereas one showed loss of chromosome 17p. Two non-papillary RCCs failed to show chromosome 3p alterations. In conclusion, renal cell tumours developing in ARCD may show chromosomal abnormalities both similar to and different from those seen in sporadic tumours.

Adult↗