[Genotyping of BRCA1, BRCA2 and CHEK2 germline mutations in Russian breast cancer patients using diagnostic biochips].

Germline mutations of BRCA1/2 genes cause the predisposition of their carriers to breast or/and ovary cancers (BC or/and OC) during the lifetime. Identification of these mutations is a basis of molecular diagnosis for BC susceptibility. Rapid genotyping technique using microarrays for identification of BRCA1 185delAG, 300T>G, 4153delA, 5382insC mutations and 4158 A>G sequence variant; BRCA2 695insT and 6174delT mutations; 1100delC mutation in CHEK2 gene was applied for 412 randomly collected breast cancer samples from the central region of European area of Russia. In 25 (6.0%) patients (6.0%) BC was associated with other tumours: OC, cervical cancer, colorectal cancer etc. BRCA1/2 and CHEK2 mutations were found in 33 (8.0%) BC patients. The most frequent mutation was BRCA1 5382insC, occurred in 16 (3.9%) BC patients, and CHEK2 1100delC, revealed in 7 (1.7%) BC patients. An application of diagnostic BC-microarray for genetic testing of BRCA1/2 and CHEK2 founder mutations has been discussed.

Biochemical markers of bone metabolism in breast cancer.

The relationship between biochemical markers of bone resorption (C-terminal telopeptide, deoxypyridinoline, tartrate-resistant acid phosphatase 5b) and osteosynthesis (bone alkaline phosphatase) and clinical manifestations of bone metastases were studied in 239 patients with breast cancer with and without signs of bone involvement. High levels of C-terminal telopeptide and bone alkaline phosphatase were associated with poor prognosis: more severe skeletal complications and lesser survival values. These biochemical markers can be used for prognosis and optimization of therapy for bone metastases in patients with breast cancer.

[Assessment of oncologic risk of breast reconstruction simultaneous with surgery for breast cancer].

The report deals with retrospective research in possible induction of relapse by breast reconstruction carried out simultaneously with surgery for breast cancer. The end results were compared between cases of modification of radical mastectomy combined with reconstruction (n=124) and controls who underwent surgery for cancer alone (n=379). Standard radio- and systemic therapy was used. Median follow-up was 64 months. Local and general recurrence as well as relapse-free and overall survival rates were identical. Multivariate analysis failed to establish any correlation between primary breast reconstruction and relapse. Nor did it increase the risk of the development of the latter.

[Long-term impact of breast reconstruction on quality of life among breast cancer patients].

Psychological impact of modified radical mastectomy carried out simultaneously with breast reconstruction (n=45) was compared with that in controls who underwent similar surgery for cancer alone (n=50). After 12 months, depression was less frequent in group 1 and indices such as being a good mixer, joyfulness, activity, happiness, job satisfaction and access to leisure and entertainment were significantly higher than among controls (p< or =0.05). However, deep depression persisted in group 1 (13%) as long as for 12 months and intense angst in 17.8%.

[Tentative results of using 99mTC-methoxyisobutyl isonitrile in predicting the effect of preoperative chemotherapy for locally advanced breast cancer].

The investigation was concerned with use of 99mTc-methoxyisobutyl isonitrile (99m Tc-MIBI)-assisted prognosis for chemotherapy of locally-advanced breast cancer based on the assessment of 99m Tc retrieval from primary tumor in 26 patients. 99mTc was administered in the course of two-phase scintigraphy of the breast prior to chemotherapy. The dynamics of accumulation and withdrawal from tumor was identified. In view of the absence of any correlation between accumulation and chemotherapy efficacy, one was established between high rates of label withdrawal, on the one hand, and lack of pathomorphosis, on the other, while medium and low rates were associated with marked pathomorphosis in 44 and 50%, respectively (p < 0.05).

[The practical use of the determination of relative 32P accumulation in the tumor in breast cancer]. / Prakticheskoe ispol'zovanie opredeleniia otnositel'nogo nakopleniia 32P v opukholi pri rake molochnoi zhelezy.

The level of relative accumulation of a 32P radionuclide was measured in 180 tumor samples obtained from 148 patients with stage I--IV breast cancer. Mean initial relative accumulation level (IRAL) was 1477 +/- 174% whereas that following effective conservative treatment (posttreatment) (PRAL)--486 +/- 81% (P < 0.01). The prognostic value of IRAL was established: in a group of stage III breast cancer, those with a high IRAL survived 2 years with no evidence of disease in 55.1 +/- 12.1% whereas those with a low IRAL--in 94.1 +/- 5.7% (P < 0.02). In patients undergoing conservative treatment, low PRAL proved predictive of complete response while high PRAL--of tumor progression. In patients with stage III breast cancer who had responded to preoperative treatment and had had a low PRAL, two-year locoregional recurrence rate was only 13% as compared to 68% in a similar group of patients with high PRAL (P < 0.02).

[Breast reconstruction in cancer]. / Rakonstruktsiia molochnoi zhelezy pri rake.

Different procedures of breast reconstruction were employed in the treatment of 223 breast cancer patients (primary reconstruction-97; delayed reconstruction-136). No major complications were recorded, including total necrosis of transverse abdominal island flap. The advantage offered by the latter is due to its resistance to chemoradiotherapy: complications such as boundary necrosis do not destroy cosmetic effect as in the case of expander application.

[Change in the level of steroid hormone receptors in the tumors of patients with breast cancer complicated by liver and bile duct diseases]. / Izmenenie soderzhaniia retseptorov steroidnykh gormonov v opukholiakh bol'nykh rakom molochnoi zhelezy s zabolevaniiami pecheni i zhelchnykh putei.

Estrogen, progesterone and glucocorticoid receptor levels were assayed in cytosols of primary tumor in 132 patients with breast cancer. Concomitant diseases of the liver and bile ducts were detected in 13 of them. Patients with concomitant hepatic pathology showed a relatively lower percentage of tumors bearing receptors of the above steroid hormones. This was matched by a significant reduction in the level of progesterone receptors. The frequency of identification of receptors of both estrogens and progesterone in tumor in cases of concomitant hepatic pathology was three times less than in those free from it.

[The role of high-dose chemotherapy with hemopoietic stem cell transplantation in the treatment of breast cancer with unfavorable prognosis]. / Rol' vysokodoznoi khimioterapii s transplantatsiei kletok- predshestvennikov gemopoèza pri lechenii prognosticheski neblagopriiatnykh form raka molochnoi zhelezy.

High-dose chemotherapy using transplantation of hemopoietic precursor cells offers much advantage for treatment of prognostically unfavorable cancers of the breast. Both experimental and clinical evidence points to a potential of raising antitumor effect by increased dosage of chemical drugs. Clinical studies using high-dose chemotherapy for treating patients with stage II-III tumors or with greater than or equal to 10 positive axillary lymph nodes, and locally-advanced and disseminated tumor established a relative rise in overall and recurrence-free survival, as compared with standard treatment. Hazardous cytopenia and related complications can be significantly reduced when hemopoietic precursor cells are transplanted from peripheral blood.

[The effectiveness of breast-conserving surgery in T1-2N0M0 breast cancer]. / Effektivnost' organosokhraniaiushchikh operatsii pri rake molochnoi zhelezy T1-2N0M0.

A retrospective analysis of the end results of surgical treatment of 1.417 patients with T1-2N0-1M0 breast tumors is presented: local recurrence after radical surgery (1.151)-2.4% after radical resection (165)-5.5%, and after lumpectomy combined with axillary lymphadenectomy (101)-4.0%. In the T1N0M0 group, the end results of radical resection and radical mastectomy were identical. In the T1N0M0 and T2N0M0 groups, in which lumpectomy combined with axillary lymphadenectomy was performed, the end results were inferior to those radical mastectomy. There was a correlation between tumor cell detection in the blood and lymph vessels and extent of intervention: radical mastectomy-6%; radical resection-13% and lumpectomy combined with axillary lymphadenectomy-17%. The latter index tended to rise in cases of recurrence after breast-conserving surgery.

[General activity and isoenzymatic spectrum of alkaline phosphatase in the diagnosis of breast cancer metastases]. / Obshchaia aktivnost' i izofermentnyi spektr shchelochnoi fosfatazy v diagnostike metastazov raka molochnoi zhelezy.

The investigation of general activity of isoenzymatic spectrum of the alkaline phosphatase is helpful in differentiation of metastases into the liver and metastases into the bones. It can reduce the percentage of wrong conclusions.

[Use of autologous hematopoietic stem cells from peripheral blood for transplantation in patients with hematologic and solid neoplasms after high-dose chemotherapy]. / Primenenie autologichenykh kletok-predshestvennikov gemopoéza ia perifericheskoi krovi dlia transplantatsii u bol'nykh s gematologicheskimi i solidnymi novoobrazovaniiami posle vysokodoznoi khimioterapii.

Peripheral mononuclears under normal hemopoiesis and after chemotherapy or/and cytokin were isolated on blood cell separator and cryopreserved. The cells from 22 patients with different hematological and solid malignancies were examined. Mononuclears with high content of hemopoiesis precursors may be collected rapidly after stimulation. Fast and persistent recovery of hemopoiesis in transplantation of this material after superhigh-dose chemotherapy of prognostically unfavourable patients is demonstrated. Cytokin (granulocytic and granulocytic-macrophagal growth factors) promoted fast and reliable production of sufficient quantities of peripheral blood hemopoiesis cells precursors.

[Dynamics of metastasis of breast cancer to the bones]. / Dinamika metastazirovaniia raka molochnoi zhelezy v kostiakh.

A total of 120 cases with Stages I (n = 32) and IIa (n = 88) mammary carcinoma who later developed metastases to the bones are analyzed. The authors come to a conclusion that the time course of the metastases development directly depends on the tumor process stage. Postoperative thiophosphamide chemotherapy is the most effective method for the prevention of metastases to the bones; postoperative radiotherapy is conducive to a most rapid dissemination of the metastases in the bones.