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Image cytophotometric DNA histogram heterogeneity in adenocarcinoma of the breast.

In 36 breast carcinomas, DNA histograms derived from the edge of an invasive primary tumor were compared with those of a second area in the invasive tumor (n = 10) or of corresponding in situ (n = 22) and/or (nodal) metastatic (n = 6) components using image cytophotometry on formalin-fixed, paraffin-embedded sections. DNA aneuploidy (defined by comparison with diploid host stroma cells) was identified in the invasive areas of 26/36 (72%), the noninvasive foci of 16/22 (73%) and the metastases of 5/6 (83%). Ploidy status of different areas of invasive tumor were concordant in all (10/10) cases; however, the in situ and invasive areas exhibited different DNA content determinations in 5/22 (23%), and metastases differed from the primary neoplasm in 3/6 (50%). Moreover clonal DNA content heterogeneity, defined as the presence of more than one discrete G0/G1 population, was observed in 20/36 (56%) tumors examined. Clonal heterogeneity was generally manifest as bimodal DNA histograms in one (n = 11) or both (n = 4) components of a tumor. Also, most DNA histogram heterogeneity was due to the presence of diploid range (n = 11) or near-tetraploid (n = 6) neoplastic populations accompanying DNA aneuploid clones. The remaining heterogeneous cases were unimodal in both components analyzed but exhibited aneuploid stemlines with different DNA indices (n = 2) or a diploid range population in one histogram and an aneuploid population in the other (n = 3). We conclude that DNA content heterogeneity is frequent in breast carcinoma and, in large part, may be accounted for by near-diploid or near-tetraploid stemlines, which are difficult to resolve from benign host elements in flow cytometric histograms.

Adenocarcinoma↗

Liver fat-storing cell clones obtained from a CCl4-cirrhotic rat are heterogeneous with regard to proliferation, expression of extracellular matrix components, interleukin-6, and connexin 43.

BACKGROUND: Immunocytochemical analysis of liver has revealed that fat-storing cells (FSC) are heterogeneous with regard to vitamin A content, staining for cytokeratins, desmin, and vimentin and the cytoskeletal protein alpha-smooth muscle actin. Since fat-storing cells play an important role in collagen deposition in normal and cirrhotic liver, we considered it important to study whether fat-storing cells were heterogeneous with regard to cell proliferation, expression of mRNAs coding for cytokines interleukin-6 (IL-6) and transforming growth factor-beta (TGF-beta), and extracellular matrix components alpha 1(I), alpha 1(III), alpha 1(IV) procollagens, laminin B1 chain and fibronectin. EXPERIMENTAL DESIGN: We used a FSC line (CFSC) that was developed in our laboratory after spontaneous immortalization of a primary culture of fat-storing cells that were obtained from the liver of a CCl4-cirrhotic rat (Lab. Invest. 65:644-653, 1991). The cells were cloned by limiting dilution and have been maintained in culture for over 3 years without appreciable changes in the parameters investigated. RESULTS: In this communication we report the characterization of 4 of the clones obtained. We show that they are heterogeneous with regard to proliferation index, expression of alpha 1(I), alpha 1(III) and alpha 1(IV) procollagen, IL-6 and TGF-beta mRNAs. The clones also differ in their response to IL-6. We also showed that clones are coupled through functional gap junctions but that they are heterogeneous with regard to the expression of the gap junction protein connexin 43. CONCLUSIONS: We suggest that clonal heterogeneity of FSC may occur in vivo. Since each of the clones expresses a unique phenotype, these FSC clones could be excellent models to study the role of defined extracellular matrices on the expression of liver specific genes by cultured hepatocytes.

Animals↗

Junctional diversity in the absence of N regions. Neonatal T cell receptor beta chain junctional sequences are more heterogeneous than neonatal T cell receptor gamma delta or IgH junctions.

Early in ontogeny, Ig, TCR-alpha beta, and TCR-gamma delta lack N regions. In addition, Ig and TCR-gamma delta junctions preferentially occur at regions of short sequence homology, thus limiting junctional diversity for these neonatal lymphocyte populations. Here, we analyze the extent of heterogeneity in TCR-beta chain junctions made early in ontogeny. DNA and cDNA from fetal/neonatal thymocytes were amplified by polymerase chain reaction, and the V-D and D-J junctions from these randomly generated sequences were analyzed. The D-J junctions were very heterogeneous, and displayed little evidence of homology-directed recombination. The V beta 8-D and V beta 5-D junctions that we analyzed each had a particular junctional sequence that was created at the site of a two-nucleotide homology, but in each case that sequence only comprised 10 to 17% of the total sequences. This junctional heterogeneity of N region lacking TCR-beta chains can be partially explained by a relative paucity of homologies at the appropriate locations near the coding ends, particularly at the D-J junction, but other factors such as the sequence surrounding the homology may also contribute. Thus, TCR-beta chains have extensive junctional heterogeneity early in ontogeny before N regions begin to be added. Since TCR-alpha beta CDR3 plays a major role in binding antigenic peptides, this junctional heterogeneity is likely to be advantageous for establishing a diverse TCR repertoire. We suggest that the sequences of the coding ends of the TCR-alpha beta have been selected through evolution to avoid the restricted junctional diversity resulting from homology-directed recombination.

Animals↗

Comparison of minimum inhibitory concentrations to methicillin in heterogeneous and homogeneous methicillin resistant Staphylococcus aureus.

OBJECTIVE: To determine the minimum inhibitory concentration (MIC) to methicillin and compare it with the type of methicillin resistance in methicillin resistant Staphylococcus aureus (MRSA) isolated from clinical samples, and to evaluate the usefulness of beta-lactamase resistant penicillins such as cloxacillin for treatment of minor MRSA infections. DESIGN: Sixty-five strains of MRSA isolated from clinical samples were studied. Homogeneous and heterogeneous resistance to methicillin of these strains was determined by an efficiency of plating technique. The MICs to methicillin of all homogeneously resistant strains and an equal number of heterogeneously resistant strains were determined by the 'E' test. SETTING: General Hospital, Colombo; De Soysa Maternity Hospital for Women; Lady Ridgeway Hospital for Children. RESULTS: 171 strains of S aureus were isolated from specimens processed in the laboratory of the Department of Microbiology, Faculty of Medicine Colombo, during a 14-month period. Seventy (40.9%) were methicillin resistant. Fifty-three MRSA strains (81.5%) were heterogeneously resistant to methicillin. Only 12 of 65 strains were homogeneously resistant. Nine of 12 of the homogeneously resistant strains were from surgical wards. MICs for methicillin in the two groups were compared. Six of 12 (50%) homogeneously resistant strains had very high levels of resistance to methicillin (MIC > 200 micrograms/ml). In contrast the MICs of all the heterogeneously resistant strains ranged from 16 micrograms/ml to 96 micrograms/ml. CONCLUSIONS: The majority of clinical isolates of MRSA from hospitals in Colombo, Sri Lanka were heterogeneously resistant to methicillin with lower MICs for methicillin than the homogeneously resistant strains. Thus, beta-lactamase resistance penicillins such as cloxacillin may have a place in the treatment of minor MRSA infections. Surveillance studies to determine if there is an increase of homogeneously methicillin resistant MRSA are required.

Adult↗

Heterogeneity of responsiveness of individual airways in cultured lung explants.

Several lines of evidence suggest that the responsiveness of the airways is heterogeneous, although the magnitude of this heterogeneity has not been quantified. We have developed a videomicroscopic method that allows the measurements of the responsiveness of individual explanted airways to contractile agonists such as methacholine. Liquid agarose at 37 degrees C is injected into human lung segments to inflate them to a volume equivalent to total lung capacity. The agarose-filled lungs are then gelled by brief refrigeration and 0.5-mm-thick explants prepared by sectioning. The explants are cultured overnight under conventional conditions. Sections with airways cut in cross section are identified and placed on an inverted videomicroscope. Airway lumen area is then measured following administration of methacholine in increasing concentrations, permitting the construction of dose-response curves for each airway segment studied. This system thus lends itself to the study of the heterogeneity of airway responsiveness across the airway tree by permitting the study of distributions of airways. Using this approach, we have observed a very high degree of heterogeneity of responsiveness across the airways of human lungs. In this report, we review these findings and discuss the physiologic implications of heterogeneity.

Bronchi↗

Heterogeneity of drug resistance in human breast and ovarian cancers.

PURPOSE: This study quantitates the extent of heterogeneity of drug resistance in breast and ovarian cancers. Identification of drug-specific resistance in tumors from multiple sites provides information necessary to understand the unique biology of a patient's disease. MATERIALS AND METHODS: Drug resistance to cisplatin, paclitaxel, and doxorubicin was measured in multiple synchronous or metachronous tumors using the extreme drug resistance (EDR) assay. The degree of resistance for each tumor was classified into one of three categories: low drug resistance (LDR), EDR, or intermediate drug resistance (IDR). RESULTS: When tested against cisplatin, 66% of primary ovarian cancers and their paired synchronous distant metastases (N = 88) shared the same resistance category, while 4% of the results were discordant (one site had EDR and the other site had LDR). Of the paired results for paclitaxel (N = 68), 54% were in the same resistance category, while 13% of the comparisons were discordant. Heterogeneity of drug response to cisplatin was also measured in primary ovarian cancers and paired recurrent tumors from 108 women. Median time to recurrence was 9.6 months. Only 55% of the paired results fell into the same resistance category, while 19% of the results were discordant. Drug resistance to doxorubicin was measured in primary breast cancers and paired synchronous metastases from 23 women: 74% of the paired results fell into the same resistance category, while 13% of the results were discordant. Metastatic sites had a slightly higher incidence of EDR than primary sites (26% and 17%, respectively). Heterogeneity of drug response to doxorubicin was then determined in primary breast cancers and paired recurrent tumors from 26 women with a median time to recurrence of 14.3 months. Only 52% of the paired results fell into the same resistance category, while 24% of the results were discordant. DISCUSSION: Heterogeneity of drug resistance for ovarian and breast cancer is a serious clinical problem encountered in administering chemotherapy for overt metastatic or recurrent cancers. The first step in managing this problem is to recognize that heterogeneity of drug resistance exists. Drug resistance tests may then help the physician avoid administering certain chemotherapeutic agents when a patient's metastatic or recurrent tumor is found to be resistant to those agents.

Antineoplastic Agents↗

Molecular heterogeneity of B-lineage diffuse large cell lymphoma.

B-lineage diffuse large cell lymphoma (B-DLCL) arising de novo is characterized by a marked degree of clinical heterogeneity. To determine whether or not the clinical heterogeneity of de novo B-DLCL is reflected by heterogeneity in the molecular features of these tumors, we investigated the pattern of distribution of several genetic lesions in 70 cases of de novo B-DLCL at diagnosis. The panel of genetic lesions tested comprised the molecular alterations most frequently detected in B-DLCL, including rearrangements of BCL2, BCL6, and MYC as well as deletions of 6q and mutations of TP53. One or more genetic lesions were detected in 39/70 cases of B-DLCL. Isolated structural alterations of BCL2, BCL6, 6q or TPS3 were detected in 8/70, 10/70, 11/70, and 3/70 cases, respectively. No isolated MYC lesions were detected. Six cases carried different combinations of two genetic lesions, including lesions of BCL2 + BCL6 (1 case), BCL2 + MYC (1 case), BCL2 + 6q (2 cases), or BCL6 + 6q (2 cases). One case had accumulated three genetic lesions, namely a rearrangement of BCL2 and BCL6 and a mutation of TPS3. Overall, these data show that multiple distinct patterns of genetic lesions may associate with de novo B-DLCL, indicating that the molecular pathogenesis of this group of lymphomas is characterized by a high degree of molecular heterogeneity.

Chromosome Deletion↗

Analysis of two-locus traits under heterogeneity for recessive versus dominant inheritance.

Complex traits have been modeled under various modes of two-locus inheritance. One example of a two-locus threshold model is the situation where an individual is susceptible to a disease trait if he or she carries three or more disease alleles. Under this model, if each locus is examined individually the inheritance appears recessive for some mating types and dominant for others. We developed a heterogeneity test, the Model-heterogeneity test, where an admixture of dominant and recessive sibships can be present. The properties of the Model-heterogeneity test were examined and compared to the Admixture test. The power of the Model-heterogeneity test to detect linkage is comparable to that of the Admixture test.

Chromosome Mapping↗

Two-dimensional gel analysis of protein expression in ovarian tumors shows a low degree of intratumoral heterogeneity.

The process of tumor progression leads to the emergence of multiple clones, and to the development of tumor heterogeneity. One approach to the study of the extent of such heterogeneity is to examine the expression of marker proteins in different tumor areas. Two-dimensional gel electrophoresis (2-DE) is a powerful tool for such studies, since the expression of a large number of polypeptide markers can be evaluated. In the present study, tumor cells were prepared from human ovarian tumors and analyzed by 2-DE and PDQUEST. As judged from the analysis of two different areas in each of nine ovarian tumors, the intratumoral variation in protein expression was low. In contrast, large differences were observed when the protein profiles of different tumors were compared. The differences in gene expression between pairs of malignant carcinomas were slightly larger than the differences observed between pairs of benign tumors. We conclude that 2-DE analysis of intratumoral heterogeneity in ovarian cancer tissue indicates a low degree of heterogeneity.

Cystadenoma, Mucinous↗

Genetic and phenotypic heterogeneity of human malignancies: finding order in chaos.

The presence of cellular heterogeneity within human tumors has been recognized for many years. Current concepts regarding the clonal origin of human neoplasms, and recent advances in the study of successive genetic changes that occur during tumor evolution may now make it possible to understand in greater depth the biological and clinical implications of intra-tumor heterogeneity at both the phenotypic and genotypic levels. In order to explore these concepts further, and to better identify the potential contributions that flow and image cytometry can make to our understanding of tumor heterogeneity, a session of the 1994 ISAC Congress was dedicated to plenary presentations on human cancer cell heterogeneity. Here, we provide a brief overview of the genetic evolutionary progression of human cancers, some considerations of clinically important phenotypic and genotypic markers, and an outline that might serve as a basis for framing relevant issues that are ammenable to further study. All Nature is but Art, unknown to thee; All Chance, Direction, which thou canst not see; All Discord, Harmony not understood: All partial Evil, universal Good. (Alexander Pope, Essay on Man, end of Epistle 1).

Biological Evolution↗

Intratumoral heterogeneity of DNA ploidy in breast carcinomas: a flow cytometric assessment of sampling techniques.

Intratumoral heterogeneity of DNA ploidy has been identified in breast carcinomas; however, optimal sampling methods have not been determined. In this study of 28 invasive breast carcinomas measuring more than 1.4 cm in greatest dimension, two different techniques for obtaining cells for flow cytometric DNA ploidy analysis were compared. Two solid pieces of tissue were taken from opposite halves of the tumor. A third sample was obtained by scraping multiple cut surfaces of the tumor. Heterogeneity of DNA ploidy was detected in 43% of cases. Most cases demonstrating heterogeneity contained multiple aneuploid populations. However, in five cases classification of the tumors as either DNA euploid or DNA aneuploid differed among samples. A total of 39 non-diploid populations were detected in 23 of the cases. Thirty-three (85%) were detected by scraping and 35 (90%) were detected in either one or both tissue pieces. Intratumoral DNA heterogeneity emphasizes the need for adequate sampling. The scraping technique was as effective in identifying aneuploid cell populations as the combined results of the two pieces of tissue and better than sampling a single piece of tissue. Scraping also offers the advantage of tissue conservation which may be critical when various analytic studies are performed.

Breast Neoplasms↗

Sex- and age-of-onset-based locus heterogeneity in asthma.

Asthma is a complex disease with a genetic component. The results of genome-wide linkage studies imply that locus heterogeneity is likely to be an important feature of the genetics of asthma. To attempt to reduce locus heterogeneity, we hypothesized that the following may form the bases for locus heterogeneity at some asthma susceptibility loci: sex of affected individuals, parental origin of alleles shared by affected sib pairs, and age of onset of wheeze. Analysis of such strata may assist in the identification of novel susceptibility loci, or reveal the basis for locus heterogeneity at previously identified loci. Genotype and phenotype data from genome-wide linkage searches for asthma susceptibility loci from three populations were analyzed. Some regions demonstrated evidence for linkage to affected individuals of a particular sex. There was evidence for excess maternal allele sharing at regions on chromosomes 9 and 11. Regions on chromosomes 2 and 6 were linked to late and early age at onset of wheeze in asthma, respectively. These analyses suggest that the bases that we selected for stratification may be appropriate at certain susceptibility loci for asthma, and may therefore assist in the fine mapping of such loci. Differences in such variables between studies may explain apparent nonreplication of linkage results.

Adolescent↗

Multipoint linkage analysis under heterogeneity: incorporation of parametric and nonparametric approaches.

Using a recently developed multipoint parametric method, which tests for linkage in the presence of heterogeneity, we performed a genome-wide search for linkage using the German asthma data. Both dominant and recessive models were assumed in this parametric approach. Identity-by-descent (IBD) sharing for affected sibs was also calculated to help identify an appropriate genetic model and localize the trait locus. The strongest evidence for linkage was on chromosome 6 (p-value = 0.00006) under the dominant model with heterogeneity. Using both linkage and IBD sharing information for D6S422 (36.55 cM) on chromosome 6, we conducted exploratory analyses to locate additional trait loci that might explain the linkage heterogeneity. We found evidence of heterogeneity between D6S422 and D11S4111 based on a test of association (p-value = 0.0015).

Adult↗

Investigating heterogeneity in an individual patient data meta-analysis of time to event outcomes.

Differences across studies in terms of design features and methodology, clinical procedures, and patient characteristics, are factors that can contribute to variability in the treatment effect between studies in a meta-analysis (statistical heterogeneity). Regression modelling can be used to examine relationships between treatment effect and covariates with the aim of explaining the variability in terms of clinical, methodological, or other factors. Such an investigation can be undertaken using aggregate data or individual patient data. An aggregate data approach can be problematic as sufficient data are rarely available and translating aggregate effects to individual patients can often be misleading. An individual patient data approach, although usually more resource demanding, allows a more thorough investigation of potential sources of heterogeneity and enables a fuller analysis of time to event outcomes in meta-analysis. Hierarchical Cox regression models are used to identify and explore the evidence for heterogeneity in meta-analysis and examine the relationship between covariates and censored failure time data in this context. Alternative formulations of the model are possible and illustrated using individual patient data from a meta-analysis of five randomized controlled trials which compare two drugs for the treatment of epilepsy. The models are further applied to simulated data examples in which the degree of heterogeneity and magnitude of treatment effect are varied. The behaviour of each model in each situation is explored and compared.

Anticonvulsants↗

Heterogeneity of angiotensin type 2 (AT2) receptors.

Evidence continues to accumulate that strengthens the proposal of heterogeneity within both the AT1 and the AT2 receptor subtypes. Pharmacologic, biochemical and immunological studies of AT2 receptors expressed in N1E-115 cells strengthen the hypothesis of AT2 receptor heterogeneity. However, it is important to reassess these studies, especially in terms of how these results correlate with other reports of AT2 receptor heterogeneity. For example, AT2 receptor immunoreactivity was absent in some neuronal regions which have previously been proposed to express the AT2 receptor subtype. In particular, AT2 receptor staining was not seen in the inferior olive, a region which is known to express a high density of AT2 receptors. Upon first examination, these results were somewhat troubling. However, when compared with earlier reports, these results should not have been unexpected. For instance, Tsutsumi and Saaverdra previously have shown that AT2 receptors in the locus coeruleus are sensitive to the actions of guanine nucleotides, while AT2 receptors in the inferior olive are insensitive (21). These antisera were raised against a population of AT2 receptors which are sensitive to GTP gamma S and therefore, the lack of AT2 receptor staining in the inferior olive, as well as the presence of AT2 receptor immunoreactivity in the locus coeruleus, confirms and extends these earlier reports. In addition the AT2 receptors expressed in the locus coeruleus have been shown to be functionally distinct from AT2 receptors in the inferior olive. In this regard, Ang II has been shown to depress glutamate-induced EPSPs in the locus coeruleus, an effect which is mediated through the AT2 receptor (19). Conversely, AT2 receptors have been shown to increase the firing rate of neurons in the inferior olive (20). Collectively, these results would predict that staining should be absent in the inferior olive using these AT2-directed antisera. Indeed, in view of these earlier physiological and pharmacological studies, the presence of AT2 receptor immunoreactivity in the inferior olive would have been surprising. The most convincing example of AT2 receptor heterogeneity is the characterization of AT2 receptors present in N1E-115 cells. Separation of solubilized N1E-115 membranes by heparin-Sepharose chromatography generates two populations of AT2 receptors which are pharmacologically and biochemically distinct. In particular, CGP42112A was approximately 2 orders of magnitude more selective for Peak III AT2 receptors than was PD123319. Binding activity of Peak I and Peak III AT2 receptor populations also differed in their responses to GTP gamma S and DTT treatment. Lastly, the AT2-directed antisera, raised against the Peak I population of AT2 receptors, were not able to immunodetect the Peak III population of AT2 receptors in immunoblot analysis, or immunoprecipiatate AT2 binding activity from Peak III material. Pharmacological, biochemical and immunological analysis of the AT2 receptor clone isolated from N1E-115 cells revealed that it has the identical characteristics or properties of the Peak III receptor. The AT2 receptor isolated from N1E-115 cells exhibited a similar pharmacology as the Peak III AT2 receptor, in that CGP42112A was more effective at displacing 125I-Ang II binding activity than was PD123319. The AT2 receptor clone was also shown to be insensitive to the actions of GTP gamma S, as well as demonstrated increased binding activity in the presence of DTT, identical to the Peak III AT2 receptor. Lastly, immunoblot analysis of membranes prepared from COS-1 cells transfected with the AT2 receptor cDNA from N1E-115 cells did not demonstrate any immune-specific bands with the AT2-directed antisera. Characterization of an AT2 receptor cDNA isolated from N1E-115 cells reveals that this clone is identical to the Peak III type of AT2 receptor.

Animals↗

Heterogeneity-based genome search meta-analysis for preeclampsia.

Preeclampsia is a pregnancy-related disorder that causes maternal and fetal morbidity and mortality. Its exact inheritance pattern is still unknown, and genome searches for identifying susceptibility loci for preeclampsia have thus far produced inconclusive or inconsistent results. We performed a heterogeneity-based genome search meta-analysis (HEGESMA) that synthesized the available genome scan data on preeclampsia. HEGESMA identifies genetic regions (bins) that rank highly on average in terms of linkage statistics across genome scans (searches). The significance of each bin's average rank and heterogeneity across scans was calculated using Monte Carlo tests. The meta-analysis involved four genome-scans on general preeclampsia and five scans on severe preeclampsia. In general preeclampsia, 13 bins had significantly high average rank (Prank< 0.05) by either unweighted or weighted analyses, while four of them (2p11.2-2q21.1, 9q21.32-9q31.2, 2p15-2p11.2, 2q32.1-2q35) were formally significant by both analyses. Heterogeneity of bin 2.8 (2q32.1-2q35) was significantly low in both unweighted and weighted analysis (PQ< 0.01). In severe preeclampsia, 10 bins had significantly high average rank by either unweighted or weighted analyses and five of them (3q11.1-3q21.2, 2q37.1-2q37.3, 18p11.32-18p11.22, 2p15-2p11.2, 7q34-7q36.3) were significant by both analyses. Bin 2q37.1-2q37.3 showed marginal low heterogeneity in unweighted and weighted analysis (PQ= 0.06). Results should be interpreted with caution as the p values were modest. Further investigation of these regions by genotyping with additional markers and families may help to direct the identification of candidate genes for preeclampsia.

Chromosome Mapping↗

Plasma RNA viral load is not associated with intrapatient quasispecies heterogeneity in HIV-1 infection.

The human immunodeficiency virus type 1 (HIV-1) viral set point has been associated with the rate of, disease progression and with the level of HIV-specific immune response. The analysis of the possible association between viral set point and quasispecies heterogeneity has important consequences in the understanding of HIV-1 in vivo evolution. In this study, we analyzed the association between intrapatient viral diversity and RNA viral load in 16 antiretroviral therapy-naive HIV-1-infected patients at a single time point, during the disease free period. Patients were separated into low and high viral load groups according to plasma RNA values. HIV-1 quasispecies complexity was assessed in the C2-V5 env region. The average intrapatient quasispecies heterogeneity in both groups was not significantly different (t-test, P > 0.05). However, while within the low viral load group both synonymous and non-synonymous mutations contribute to the variation observed, in the heterogeneity observed in the high viral load group there was an increase in the contribution of the non-synonymous mutations. Thus, this study show that although intrapatient quasispecies heterogeneity is not associated with viral set point in HIV-1 infection, some differences exist between the two groups in the pattern of mutation accumulation.

Amino Acid Substitution↗

Intratumoral heterogeneity of genetic changes in primary colorectal carcinomas with metastasis.

PURPOSE: To elucidate the intratumoral distribution of genetic changes, surgically resected colorectal carcinomas were investigated regarding their loss of heterozygosity in the regions of tumor suppressor genes and the mutation of ras genes. METHODS: Full-thickness fresh tumor slices from 23 colorectal carcinomas were removed and divided into multiple specimens, which were then submitted separately for DNA and histopathological analyses. The loss of heterozygosity was analyzed in 23 primary carcinomas and 9 metastasized carcinomas by the use of restriction fragment-length polymorphism markers on chromosome 1p, 5q, 17p, 18q, and 22q. RESULTS: Intratumoral heterogeneity was identified in 11 of 23 primary carcinomas (47.8%) and we could successfully map the regional genetic variation. In both stages I and II, 1 of 5 cases (20%); in stage III, 3 of 6 cases (50%); and in stage IV, 6 of 7 cases (85.7%) were heterogeneous. With respect to venous invasion positive primary carcinomas, hepatic metastasis occurred in 75% (6/8) of the heterogeneous carcinomas, whereas hepatic metastasis occurred in only 12.5% (1/8) of homogeneous carcinomas. CONCLUSION: The present results suggest that the existence of intratumoral heterogeneity, which may reflect genetic instability, may thus play a role in the enhancement of aggressive progression and the metastasis of colorectal carcimomas.

Adult↗