Biomedical subjects

R Kodet

Publications and source records attributed to R Kodet.

At least 19 recordsLinked to original sources

PubMed2006

Congenital solitary liver cysts.

AIM: The aim of the study was to describe clinical and pathological findings in children with rare congenital solitary liver cyst. MATERIAL AND METHODS: Six children with congenital liver cyst were treated at the authors' institution from 1995 to 2002. Clinical records and operative findings of these patients were reviewed retrospectively. RESULTS: Age at presentation ranged from neonatal to 14 years, and there were four girls and two boys. Hepatomegaly was the most common symptom in neonates while the older children presented with abdominal pain. Ultrasound was conclusive for diagnosis in all children, prenatal ultrasound in three. Intrahepatic cyst was found in five children. Partially extrahepatic cyst in the porta hepatis was found in one. The cyst diameters varied from 8 to 10 cm. Cysts were excised via an open abdominal approach in all patients. Histological findings confirmed the diagnosis of congenital liver cyst. Columnar epithelium was found in newborns while atrophic changes of epithelial lining were seen in older children. In a case of a 13-year-old girl the cyst was lined by metaplastic squamous epithelium with foci of slight dysplasia. Immunohistochemical studies were available in three recent children with positive findings in all of them. The postoperative course was uneventful in all patients. The follow-up period ranged from 36-120 months and no recurrence was observed. CONCLUSION: With appropriate selection of symptomatic patients, total excision of a congenital liver cyst is a safe procedure with excellent long-term results. Given the possibility of malignant degeneration of a congenital liver cyst we recommend its surgical excision in most cases.

Abdominal Pain↗

PubMed2005

Rhabdomyosarcoma: molecular diagnostics of patients classified by morphology and immunohistochemistry with emphasis on bone marrow and purged peripheral blood progenitor cells involvement.

Two histologically distinct subtypes of rhabdomyosarcomas (RMS), embryonal and alveolar, are different in many aspects, such as age distribution, primary site, and clinical outcome. We analyzed a group of 30 patients with RMS. The aim was to broaden the spectrum of diagnostic tools in evaluating the primary tumors, their recurrences and/or metastases, and to extend the diagnostic boundary to bone marrow and purged peripheral progenitor blood cell samples. We have performed the RT-PCR assay to analyze RMS for the presence of expression of MyoD1 gene and for the presence of chimeric transcripts PAX3/FKHR or PAX7/FKHR. MyoD1 gene expression was found in all 30 patients in samples from primary tumors. The chimeric transcripts PAX/FKHR were identified in 13 of 15 patients with alveolar RMS. Furthermore, the fusion transcript PAX7/FKHR was identified in 2 of 15 patients with RMS classified as embryonal by histology. Bone marrow samples (12) and peripheral blood progenitor cell specimens (13) in ten patients were examined by RT-PCR. We were able to identify 7 patients with bone marrow involvement and/or with contamination of peripheral blood progenitor cells by the tumor cells. We demonstrate that employing molecular diagnostics has an impact on staging, therapy monitoring and recognition of malignant cells at the tumor resection margins.

Adolescent↗

PubMed2005

Porcelain gallbladder with extrahepatic bile duct obstruction in a child.

An extrahepatic bile duct obstruction was diagnosed in a 13-year-old boy presenting with pruritus, abdominal pain and jaundice. Several weeks after sphincterotomy and biliary stenting via endoscopic retrograde cholangiopancreaticography which relieved the obstruction, the patient was operated on. Severe fibrosis encased the extrahepatic biliary tract, so only cholecystectomy was performed because planned hepaticojejunoanastomosis could jeopardize the vascular supply to the liver. Histopathology showed calcification of the gallbladder wall and chronic fibroproliferative changes in the surrounding tissue. The stricture of extrahepatic biliary duct resolved after 3 years of repeated replacement of stents. The stenting was thereafter terminated. In the following 3 years no dilation of intrahepatic bile ducts and no laboratory signs of cholestasis recurred and the now 19-year-old boy is doing well. Neither a case of porcelain gallbladder with extrahepatic bile duct obstruction in a child nor a successful treatment of the obstruction by long-term stenting has been described in the literature yet.

Adolescent↗

PubMed2005

HPV and other risk factors of oral cavity/oropharyngeal cancer in the Czech Republic.

OBJECTIVE: An association between high-risk human papillomavirus (HR HPV) infection and a risk of development of a subgroup of head and neck cancers has been proposed recently. The main risk factors of oral and oropharyngal cancer observed in our population are smoking and alcohol consumption. The incidence of oral/oropharyngeal tumours in the Czech Republic is relatively high and there are no data available about the prevalence of HPV DNA presence in these tumours. MATERIALS AND METHODS: Eighty patients with a primary oropharyngeal cancer were enrolled. The presence of HPV DNA has been evaluated by polymerase chain reaction in 68 cases from which the tumour tissue and demographical and clinical data were available. The typing of HPV was performed by nucleotide DNA sequencing. RESULTS: The HPV DNA was detected in 51.5% of samples tested. Among the HPV DNA positive tumours, 80% contained HPV16. In the analysed group there were 54 men and 14 women. The prevalence of HPV DNA was lower in oral (25%) than in oropharyngeal (57%) tumours, and higher in never smokers (100%) and never drinkers (68.8%). HPV DNA presence was not related to gender, age, number of lifetime sexual partners or practice of oral-genital sex, size of tumour or presence of regional metastases. CONCLUSIONS: The difference in the prevalence of HPV DNA positive tumours between cases of oral cavity and oropharyngeal carcinoma exposed and not exposed to tobacco or alcohol support the theory that HPV DNA positive tumours form an aetiologically distinct subgroup of head and neck tumours.

Adult↗

PubMed2005

[The role of the extracellular space in biology of glial brain tumors].

The size, geometry and composition of the extracellular space (ECS) play an important role in influencing the biological behavior of primary brain tumors. Experiments employing the real-time TMA iontophoretic method to determine the size and geometry of the ECS, by monitoring the diffusion of TMA ions in the ECS, revealed a dramatic increase in ECS size in brain neoplasms when compared with that of unaffected brain cortex. Further, the increase of ECS volume in tumors was shown to correlate with increasing proliferative activity and increasing cellularity of astrocytomas. The increase in ECS size was surprisingly accompanied by a significant increase in diffusion barriers, slowing the diffusion of molecules in the ECS of tumors. In low-grade tumors, diffusion is hindered by the presence of a dense net of tumor cell processes. In high-grade gliomas, in which the cellular processes are shortened with reduced branching, the increase in diffusion barriers is caused by the overproduction of specific components of the extracellular matrix (ECM) by the tumor cells, mainly tenascin. The ECM glycoproteins produced represent a substrate for the subsequent adhesion and migration of tumor cells through the enlarged ECS. However, they might also critically reduce the diffusion of therapeutics into the tumor. The presence of tenascin in the ECS of a neoplasm correlates significantly with the increased malignancy of the tumor and a poor clinical outcome of the disease, thus making the immunohistochemical detection of tenascin diagnostically useful as a prognostic marker and a marker of aggressive biological behavior of tumors.

Brain Neoplasms↗

PubMed2005

Epidermal growth factor receptor--its expression and copy numbers of EGFR gene in patients with head and neck squamous cell carcinomas.

Signaling pathways activated by epidermal growth factor receptor (EGFR) are pathogenetically involved in the development of head and neck squamous cell carcinomas (HNSCC). A monoclonal antibody against the EGFR protein blocking the receptor activity (cetuximab - Erbitux - C225) is now available for therapeutic applications. The mechanisms of EGFR protein overexpression are poorly understood. Regulatory pathways, EGFR gene structural changes or its amplification may be involved. The aim of the study was to evaluate expression of the EGFR protein in patients with HNSCC, to identify EGFR gene copy numbers, and to find out whether the protein overexpression is associated with the EGFR gene amplification. In the case of a pathogenetical link of the EGFR gene amplification and the protein overexpression it would be useful to employ both diagnostic approaches to identify patients eligible for cetuximab therapy. We investigated 33 patients with HNSCC. The expression of EGFR protein was evaluated by immunohistochemistry, copy numbers of EGFR gene and the numbers of chromosome 7 centromeric signals were investigated by fluorescence in situ hybridization on interphasic nuclei (I-FISH). Histological sections from formalin fixed and paraffin embedded tissues were used. We observed three types of EGFR protein expression (homogeneous 3+ membrane positivity in 13 patients; membrane positivity varying from 1+ to 3+ in 12 patients; a strong membrane positivity at the periphery of the tumor cell clusters in 5 patients). In two cases the results were difficult to interpret. In one case single tumor cells only were positive. Numerical changes of chromosome 7 were present in 23 patients. We found the EGFR gene amplification in seven patients. The tumor cells with amplification of the EGFR gene were generally infrequent and were localized in small clusters, or they were randomly dispersed between the tumor cell population without the gene amplification. We did not find any correlation between the EGFR gene amplification and the EGFR protein overexpression. Thus, amplification of the EGFR gene is not pathogenetically involved in the EGFR protein overexpression. From the diagnostic aspect a standardized immunohistochemical assessment of the EGFR protein expression appears sufficient for detection of the EGFR status. Criteria for cetuximab treatment in patients with HNSCC may differ from those already used for patients with colorectal carcinomas and should take different patterns of the EGFR protein overexpression into consideration.

Adult↗

PubMed2005

[Treatment results of Langerhans cell histiocytosis with LSH II protocol].

BACKGROUND: The aim of study was to evaluate outcome of international treatment protocol LCH II for children with Langerhans cell histiocytosis treated in FN Motol. METHODS AND RESULTS: Between November 1995 and December 2003, 46 children were treated, sex ratio M:F 29:17 and median age at diagnosis 6 years 8 months. 28 children (60.9%) suffered from monosystem disease with majority of bone lesions (23 times) with skull predominance (16 times). Surgery was primary treatment modality for monosystem disease. Five children with recurrence were successfully treated by protocol LCH II - LR (3x) and LCH III - LR /G2/, respectively. Eighteen children (39.1%) suffered from multisystem disease. 6 out of 18 patients were treated according to low-risk protocol LCH II - LR and 12 children by high-risk scheme LCH II - HR at the non-randomized branch included etoposide. Recurrence was revealed in 11 patients and 10 of them reached 2nd or 3rd complete remission (CR) by 2 - chlorodeoxyadenosine (CDA) monotherapy, and 1 child reached 2nd CR by LCH II - HR scheme. Two children underwent irradiation after bone lesion excision as well as 1 child as supplemental treatment. Totally, 29 children (63.0%) achieved 1st CR, 14 (30.4%) 2nd CR, 2 (4.4%) 3rd CR, and 1 child died because of LCH progression. There were no severe side effects of chemotherapy. Follow-up median time was 5 years 8 months (range 9 months - 9 years 6 months). CONCLUSIONS: LCH II protocol is safe and effective. Results revealed that treatment of patients with multisystem disease might demand some treatment modification.

Adolescent↗

PubMed2004

Extracellular matrix glycoproteins and diffusion barriers in human astrocytic tumours.

The extracellular matrix (ECM) and changes in the size and geometry of the extracellular space (ECS) in tumour tissue are thought to be of critical importance in influencing the migratory abilities of tumour cells as well as the delivery of therapeutic agents into the tumour. In 21 astrocytic neoplasms, the ECM composition was investigated in situ by the immunohistochemical detection of ECM glycoproteins (tenascin, laminin, vitronectin, fibronectin, collagen types I-VI). To explain the changes in ECS size and to detect barriers to diffusion in the tumour tissue, the ECM composition, the cellularity, the density of glial fibrillary acidic protein (GFAP)-positive tumour cell processes and the proliferative activity of the tumours were compared with the size and geometry of the ECS. The ECS volume fraction and the complex of hindrances to diffusion in the ECS (i.e. the tortuosity) were revealed by the real-time iontophoretic tetramethylammonium method. Increased proliferative activity of the tumours correlated with increased ECS volume fraction and tortuosity. The tortuosity of the tumour tissue was not significantly influenced by tumour cell density. Higher tortuosity was found in low-grade astrocytomas associated with the presence of a dense net of GFAP-positive fibrillary processes of the tumour cells. The increase in tortuosity in high-grade tumours correlated with an increased accumulation of ECM molecules, particularly of tenascin. We conclude that the increased malignancy of astrocytic tumours correlates with increases in both ECS volume and ECM deposition.

Aged↗

PubMed2004

Expression of thyroid transcription factor 1 in primary brain tumours.

BACKGROUND: Thyroid transcription factor 1 (TTF-1) is expressed in a proportion of carcinomas derived from follicular thyroid cells and respiratory epithelium. Immunohistochemical detection of this protein was shown previously to be a helpful aid in tumour diagnosis, specifically in deciding whether a tumour is primary to the lung/thyroid gland or metastatic. Recently, TTF-1 expression was also observed in certain areas of postnatal brain. AIM/METHOD: To investigate the expression of TTF-1 protein in a spectrum of 73 primary brain tumours including astrocytomas, glioblastomas, ependymomas, oligodendrogliomas, medulloblastomas, and gangliogliomas of different sites. RESULTS: All the tumours were negative for TTF-1 except for two ependymomas of the third ventricle. CONCLUSIONS: The expression of TTF-1 in brain tumours appears to be site specific rather than associated with tumour dedifferentiation. The presented expression of TTF-1 protein in certain primary brain tumours should be taken into consideration when interpreting the immunohistochemical staining of brain tumours of uncertain primary site.

Biomarkers, Tumor↗

PubMed2004

[Spindle cell and cuboidal renal cell carcinoma (loopoma). 10 case reports].

BACKGROUND: Current classification systems of neoplasms arising from renal parenchyma distinguish 5 categories of renal cell carcinoma (RCC), i.e. conventional RCC, papillary RCC, chromophobe RCC, collecting duct/medullary RCC and unclassified RCC. We present 13 cases of unusual and unclassified spindle and cuboidal renal cell carcinomas. METHODS AND RESULTS: The studied group consisted of 13 patients (7 men and 6 women). They ranged in age from 22 to 65 years (mean 57.3). Generally, the tumours were well circumscribed and confined to the kidney, whitish to grey on section with a diameter 4.5-13 cm (mean 8.6 cm). One patient was investigated for loin pain and nocturia. Three patients had staghorn nephrolithiasis and vague sonographic findings in renal parenchyma. In one patient the renal tumour was found when examined on follow-up examination for prostatic adenocarcinoma. None of our patients was known to have elevated levels of parathyroid hormone due to hyperplasia, adenoma or carcinoma of the parathyroid gland. Clinical follow-up of the patients ranged from 9 months to 8 years (mean 2.3 years). Microscopically, the tumours were composed of two main populations of cells: flattened, spindle cells with sparse cytoplasm and small cuboidal cells with clear to light eosinophilic cytoplasm. Eight patients are currently well without signs of recurrence or metastasis, one had metastasis in the regional lymph node at the time of nephrectomy, one died of unrelated cause, and three were lost to follow-up. CONCLUSIONS: We present 13 cases of unclassified RCC. Our cases were histologically, immunohistochemically and ultrastructurally similar to the hitherto reported case reports of this variant of RCC. It is obvious, that that variant of RCC should be recognised as a new subtype of RCC.

Adult↗

PubMed2004

[Molecular diagnosis of malignant B-cell lymphoma: detection of clonality and a brief review of problems with our results].

BACKGROUND: Diagnostic approach to non-Hodgkin's lymphomas requires a combination of laboratory methods. Methods used in morphology constitute the basis of the diagnostics; in many instances it is necessary to combine them with methods of molecular genetics. The latter method plays a key role in the detection of B cell clonality using identification of the rearrangement of IGH and/or IGK genes and in detection of the chromosomal translocations specific for some lymphomas. METHODS AND RESULTS: Using PCR we investigated 113 patients with malignant B cell lymphomas of different types (follicular--FL, mantle cell--MCL, small cell--CLL/SLL, diffuse large cell--DLBCL). We established the IGH gene clonal rearrangement in 85% of the cases (96/113), and the clonal rearrangement of the IGK gene in 58.3% patients (42/72). Combination of both approaches (IGH and IGK) revealed a positive result in 90.3% (102/113). The highest yield was rendered in patients with CLL/SLL and with MCL (100%), and it was 86 and 87% in cases with FL and DLBCL. CONCLUSIONS: The detection of clonality in lymphomas helps to distinguish a malignant disease from polyclonal hyperplastic and lymphoproliferative disorders of B cells. The recognition of clonal rearrangements of the IGH and IGK genes serves for a long term monitoring of the disease activity in cases in which there are no other molecular markers available. The demonstration of lymphoma characteristic translocations is relatively specific and useful but at present its usefulness is reduced in cases with variable breakpoint regions.

Clone Cells↗

PubMed2004

Distribution of the extracellular matrix glycoproteins in ependymomas--an immunohistochemical study with follow-up analysis.

The extracellular matrix (ECM) plays a critical role in influencing the biological behavior of brain tumors and the diagnostic detection of ECM components in ependymomas might be of prognostic value. In the present study we evaluated immunohistochemically the expression of a spectrum of ECM glycoproteins (tenascin, vitronectin, fibronectin, laminin, collagen types II, IV and VI) in a series of 36 pediatric intracranial ependymomas. The distribution of the ECM glycoproteins was evaluated both within the tumor tissue and at the tumor invasion front, and the prognostic value of the results was tested in a survival analysis. The expression of most of the ECM glycoproteins was associated only with blood vessels. Tenascin and vitronectin were found in a more diffuse pattern around the tumor cells and at the tumor invasion fronts of several cases. The progression-free survival was significantly decreased for patients with tenascin positive tumors (in any of the studied compartments) and for the tumors with vitronectin accumulation at their invasion fronts. In one ependymoma containing foci of cartilage with metaplastic ossification we demonstrated that collagen types II and VI and tenascin were present in ECM of both the cartilage and the ependymoma, and were accompanied by areas of necrosis and dystrophic calcifications. We suggest, that the rare simultaneous production of the specific ECM components might lead to the formation of chondroid areas in ependymomas. An abundant production of some ECM glycoproteins (tenascin and vitronectin) is present in a proportion of ependymomas and its immunohistochemical detection is of prognostic relevance.

Adolescent↗

PubMed2004

[Radical surgery in the complex treatment of hepatoblastoma].

BACKGROUND: Evaluation of treatment results in children with hepatoblastoma--a retrospective study of clinical and pathological data of surgically treated children. METHODS AND RESULTS: At the clinic of authors, 28 children were operated for hepatoblastoma during 1991 to 2002. Average age of patients was 2.2 years. When tumors were classified according to PRETEX system, 3 children were in the stadium I, 12 children in stadium II, 12 children in stadium III, and one child in the stadium IV. At the diagnosis, lung metastases were found in 3 children. Till 1996 the treatment was initiated by a primary operation, since 1996 by a preoperative chemotherapy. Chemotherapy was administered according to the SIOP protocols. Primary operation was done in 13 children, 15 children were operated after the pre-operation chemotherapy. Liver resection included right-sided lobectomy in 7 cases, extended right-sided lobectomy in 4 cases, left-sided lobectomy in 8 cases, right-sided trisegmentectomy in 5 cases, left-sided trisegmentectomy in 3 cases. In our studied group the three years of event free survival was achieved in 75%, overall survival in 86%. Four children died, two of them because of the progression of the disease, two for the complication during the therapy. CONCLUSIONS: Combination of the radical surgical resection with preoperative and postoperative chemotherapy enables successful treatment of the childhood hepatoblastoma.

Child↗

PubMed2003

The newly detected mutations in the RET proto-oncogene in exon 16 as a cause of sporadic medullary thyroid carcinoma.

Medullary thyroid carcinoma (MTC) occurs as a sporadic form or, less frequently, as an autosomal dominant inherited familial disorder. Germline mutations in the RET proto-oncogene in exons 10, 11, 13, 14, 15, and 16 are found in most of the familial cases (nearly 95%). Somatic mutations in sporadic MTC are detected in 23-69% of patients. The most frequent somatic mutation is located in exon 16 at codon 918, and only a small percentage of mutations are found in exons 10, 11, 13, and 15. We have searched for somatic mutations in Czech MTC patients using direct sequencing. We report here two new somatic missense mutations in exon 16 of the RET proto-oncogene associated with the sporadic MTC detected in two Czech men. A homozygous mutation at codon 922 TCC(Ser)-->CCC(Pro) as a result of loss of heterozygosity was revealed in the first patient. In the second one a heterozygous mutation at codon 930 ACG(Thr)-->ATG(Met) was found.

Carcinoma, Medullary↗

PubMed2003

Ethanol fixation of lymphoma samples as an alternative approach for preservation of the nucleic acids.

Molecular methods play an important role in diagnostic pathology of lymphomas. PCR based demonstration of clonality or detection of a specific chromosomal translocation may determine the exact classification of the lymphoma. Hence the final diagnosis may depend on the quality of preserved nucleic acids in the bioptic specimen. The integrity of DNA and RNA may be damaged by formalin fixation, which destroys the nucleic acids by fragmentation. Therefore, a portion of each lymphoma sample should be frozen. To substitute freezing techniques we utilized ethanol as a fixative, which preserves nucleic acids. We compared PCR and RT-PCR products from lymphoma samples, which were differently pre-treated by ethanol fixation, formalin fixation and freezing. The ethanol fixed samples retained a high quality of both DNA and RNA and provided reproducible PCR products similar to frozen samples and significantly better then those extracted from formalin fixed samples. We may recommend ethanol as a complementary fixative for all pathology laboratories where deep freezing in not routinely available.

Biomarkers, Tumor↗

PubMed2003

[Large-cell diffuse B-cell lymphoma: heterogenous origin and prognosis from the aspect of modern diagnosis].

BACKGROUND: Diffuse large B-cell lymphomas represent a heterogeneous group of tumors with a different origin, morphological findings and a variable clinical prognosis. These tumors have been recently classified into two prognostically relevant subgroups differing in the gene expression. The key genes suitable for routine diagnostics of DLBCL have not been yet identified. The aim of this work was to study changes and expression of several genes and proteins participating in the genesis of DLBCL. METHODS AND RESULTS: We analysed a group of 31 patients with diffuse large B-cell lymphomas. Basic clinical data including follow-up of the patients were available. Tumors were examined by a panel of immunohistochemical reactions with antibodies against CD20, CD79a, BCL-2, BCL-6, CD10, Ki-67 and TP53. FISH was used to detect a translocation t(14;18)(q32;q21) and/or a break in BCL6 region (3q27) suggestive of a translocation with a variable translocation partner t(3;?). PCR was utilized to detect the translocation t(14;18) and a clonal rearrangement of heavy and/or kappa chain of the immunoglobin genes. CONCLUSIONS: The expression of BCL-2 protein appeared to correlate with a higher mortality rate. The expression of other proteins examined in the study did not correspond significantly with the clinical development of the disease. Tumors with follicular lymphoma as a component had significantly higher mortality rate than the tumors developing de novo. Moreover, higher mortality was evident in cases with higher values of the International Prognostic Index (IPI).

DNA-Binding Proteins↗

PubMed2003

[Anaplastic large-cell lymphoma: review].

Anaplastic large cell lymphomas (ALCLs) represent a heterogeneous group of malignant lymphoproliferative diseases. Most of the cases are of T-cell line with a loss of cell surface receptors but with a production of cytotoxic cytoplasmatic granules--immunohistochemically (IHC) positive perforin, granzyme B, and TIA-1. The diagnostics of ALCL is based on morphological findings and results of IHC, which further stratify ALCLs to basic immunophenotypes according to ALK (anaplastic lymphoma kinase) protein expression--ALCL CD30+ ALK+ and ALCL CD30+ ALK+. The morphological investigations are supplemented by karyotyping and/or by a demonstration of breakpoint at 2p23 harboring ALK gene (FISH), and by molecular detection of chimeric genes characteristic of ALK+ lymphomas (NPM-ALK, ATIC-ALK, TPM3-ALK, TFG-ALK, and some even rarer rearrangements). Molecular diagnostics is important in monitoring minimal residual disease. As some of the characteristic molecular changes were demonstrated in healthy individuals and in Hodgkin's disease by quantitative PCR, the validation of these findings demands further studies. ALK protein positive ALCLs affect patients in age categories up to the third decade, whereas ALK protein negative cases occur in older patients with an average age of 60 years. Both subgroups of lymphomas are aggressive but ALK+ lymphomas react well to systemic treatment, and have a more favorable prognosis. Primary skin ALCLs belong to a group of T-cell lymphoproliferative diseases of the skin and have, in the majority of cases, a favorable course without generalization.

Anaplastic Lymphoma Kinase↗

PubMed2003

[Follicular lymphomas: molecular diagnosis using t(14;18)(q32;q21)--fluorescence in situ hybridization, qualitative and quantitative PCR].

Diagnosis of follicular lymphoma (FL) is based on histology and immunohistochemical profile (CD20+, CD79alfa+, CD10+, BCL-2+, CD5-). A chromosomal marker--translocation t(14;18)(q32;q21) supporting the tumor diagnosis and useful for monitoring bone marrow or peripheral blood infiltration by the tumor cells is also used. The BCL2 gene (18q21) is controlled by an enhancer of the IGH gene (14q32) resulting in BCL-2 protein overexpression. The translocation is present in the majority of patients with FL. The aim of the study was to introduce the quantitative PCR (RQ-PCR, real-time quantification) method for the assessment of the quantity of cells bearing the translocation t(14;18) in patients with FL. The fluorescence in situ hybridization on interphasic nuclei (I-FISH) in histologic sections was used for screening of patients with the t(14;18). A search for the break of the BCL2 gene at the major breakpoint region (mbr) was performed by means of qualitative PCR. We determined the relative number of the tumor cells bearing t(14;18) translocation (mbr) in patients with FL by the RQ-PCR. The relative quantity of these cells was significantly higher in the lymph nodes than in the bone marrow or peripheral blood. The RQ-PCR is a tool of choice to monitor the activity of the disease in individual patients, and to detect an early disease relapse before its manifestation at the level diagnosed by morphology.

Female↗