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Biomedical subjects

Teresa Wagner

Publications and source records attributed to Teresa Wagner.

At least 19 recordsLinked to original sources
PubMed2005

Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers.

Early age at first birth and multiparity have been associated with a decrease in the risk of breast cancer in women in the general population. We examined whether this relationship is also present in women at high risk of breast cancer due to the presence of a mutation in either of the 2 breast cancer susceptibility genes, BRCA1 or BRCA2. We performed a matched case-control study of 1,260 pairs of women with known BRCA1 or BRCA2 mutations, recruited from North America, Europe and Israel. Women who had been diagnosed with breast cancer were matched with unaffected control subjects for year of birth, country of residence, and mutation (BRCA1 or BRCA2). Study subjects completed a questionnaire detailing their reproductive histories. Odds ratios (ORs) and 95% confidence intervals (CIs) were derived by conditional logistic regression. Among BRCA1 carriers, parity per se was not associated with the risk of breast cancer (OR for parous vs. nulliparous = 0.94; 95% CI = 0.75-1.19; p = 0.62). However, women with a BRCA1 mutation and 4 or more children had a 38% decrease in breast cancer risk compared to nulliparous women (OR = 0.62; 95% CI = 0.41-0.94). In contrast, among BRCA2 carriers, increasing parity was associated with an increased risk of breast cancer; women with 2 or more children were at approximately 1.5 times the risk of breast cancer as nulliparous women (OR = 1.53; 95% CI = 1.01-2.32; p = 0.05). Among women with BRCA2 mutations and who were younger than age 50, the (adjusted) risk of breast cancer increased by 17% with each additional birth (OR = 1.17; 95% CI = 1.01-1.36; p = 0.03). There was no significant increase in the risk of breast cancer among BRCA2 carriers older than 50 (OR for each additional birth = 0.97; 95% CI = 0.58-1.53; p = 0.92). In the 2-year period following a birth, the risk of breast cancer in a BRCA2 carrier was increased by 70% compared to nulliparous controls (OR = 1.70; 95% CI = 0.97-3.0). There was a much smaller increase in breast cancer risk among BRCA2 carriers whose last birth was 5 or more years in the past (OR = 1.24; 95% CI = 0.79-1.95). A modest reduction in risk of breast cancer was observed among BRCA1 carriers with 4 or more births. Among BRCA2 carriers, increasing parity was associated with a significant increase in the risk of breast cancer before age 50 and this increase was greatest in the 2-year period following a pregnancy.

Adolescent↗
PubMed2005

Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study.

PURPOSE: The purpose of this study was to estimate the extent of protection offered against breast cancer by prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations and to determine to what extent risk reduction varies with age at oophorectomy, age at diagnosis, and time elapsed since surgery. PATIENTS AND METHODS: We analyzed 1,439 patients with breast cancer and 1,866 matched controls derived from a registry of BRCA1 and BRCA2 carriers. We estimated odds ratios (ORs) of breast cancer for having had a bilateral oophorectomy, using conditional logistic regression, matched for parity and for oral contraceptive use. RESULTS: A previous history of oophorectomy was associated with a significant reduction in breast cancer risk of 56% for BRCA1 carriers (OR = 0.44; 95% CI, 0.29 to 0.66) and of 46% for BRCA2 carriers (OR = 0.57; 95% CI, 0.28 to 1.15). The risk reduction was greater if the oophorectomy was performed before age 40 (OR = 0.36; 95% CI, 0.20 to 0.64 for BRCA1 carriers) than after age 40 (OR = 0.53; 95% CI, 0.30 to 0.91). The protective effect was evident for 15 years post-oophorectomy (OR = 0.39; 95% CI, 0.26 to 0.57). CONCLUSION: Oophorectomy is an effective means of reducing the risk of breast cancer in carriers of BRCA1 mutations. The data suggest oophorectomy is protective in BRCA2 carriers as well, but needs to be confirmed in other studies.

Adult↗
PubMed2005

Lesion miss rates and false-negative rates for 1115 consecutive cases of stereotactically guided needle-localized open breast biopsy with long-term follow-up.

PURPOSE: To retrospectively determine the lesion miss rate and false-negative rate of needle-localized open breast biopsy (NLOBB) with stereotactic guidance in a large study population. MATERIALS AND METHODS: The ethical review board approved the study; the need for informed consent was waived. A total of 1115 stereotactic NLOBBs performed in 1068 women aged 22-90 years (mean age, 54 years) were tracked to determine outcomes. In cases of malignancy, NLOBB was considered to be diagnostically successful. The mammographic outcomes in all patients with benign results at NLOBB were tracked for at least 2 years. Cases without such mammographic follow-up were cross-referenced with a tumor registry after at least 54 months. The lesion miss rate was based on all malignant lesions and all lesions with long-term mammographic follow-up. Results from all 1115 NLOBBs were used to report the false-negative rate. RESULTS: Of 1115 NLOBBs, 472 (42%) had malignant results. Mammographic follow-up data were available for 535 (83%) of 643 NLOBBs with benign results. Mammographic follow-up revealed 11 lesions that were missed with NLOBB, of which five were malignant and six benign. Thus, the lesion miss rate with NLOBB was 1.1% (11/[472 + 535]). Among the 643 cases, in 108 of them without mammographic follow-up (17%), cross-referencing with a tumor registry did not reveal missed cases of breast carcinoma. The false-negative rate was therefore 1.0% (5/[472 + 5]). CONCLUSION: On the basis of the results of long-term follow-up, the authors noted a lesion miss rate of 1.1% and a false-negative rate of 1.0%, which indicate that NLOBB with stereotactic guidance is an accurate method for diagnosing breast lesions.

Adult↗
PubMed2005

An anatomical classification of the variations of the inferior phrenic vein.

The majority of anatomical textbooks of gross anatomy offer very little information concerning the anatomy and distribution of the inferior phrenic vein (IPV). However, in the last decade, an increasing number of reports have arisen, with reference to the endoscopic embolization of esophageal and paraesophageal varices, as well as venous drainage of hepatocellular carcinomas (HCC). The IPV is one of the major sources of collateral venous drainage in portal hypertension and HCC. The aim of this study was to identify the origin and distribution of the IPVs (right and left), both in normal and (selective) pathological cases. We have examined 300 formalin-fixed adult cadavers, without any visible gastrointestinal disease, and 30 cadavers derived from patients with HCC. The right IPV drained into the following: the inferior vena cava (IVC) inferior to the diaphragm in 90%, the right hepatic vein in 8%, and the IVC superior to the diaphragm in 2%. The left IPV drained into the following: the IVC inferior to the diaphragm in 37%, the left suprarenal vein in 25%, the left renal vein in 15%, the left hepatic vein in 14%, and both the IVC and the left adrenal vein in 1% of the specimens. The IPVs possessed four notable tributaries: anterior, esophageal, lateral and medial. The right IPV served as one of the major extrahepatic draining veins for all 30 cases of HCC. These findings could have potential clinical implications in the transcatheter embolization of esophageal and paraesophageal varices, as well as in mobilizing the supradiaphragmatic segment of IVC.

Adrenal Glands↗
PubMed2005

Clinical and morphological diagnosis of cardiac AL amyloidosis: a review of findings and difficulties as illustrated in one case.

BACKGROUND: Primary amyloid light-chain (AL) amyloidosis results from plasma cell dyscrasia. Fibrillar deposits of monoclonal immunoglobulin light chains are present in various organs, especially in the heart. The patients suffer from fatal cardiac dysfunction. CASE REPORT: We report the case of a 54-year-old man with symptoms of cardiac arrhythmia which was refractory to conventional treatment and ablations. At a later stage of his disease, the diagnosis of AL amyloidosis associated with monoclonal gammapathy of uncertain significance was established. Echocardiography, electrocardiography, serum immunofixation studies, abdominal fat aspirate biopsy, and bone marrow biopsy indirectly confirmed the diagnosis of cardiac amyloidosis. The patient died. CONCLUSIONS: The diagnosis of AL cardiac amyloidosis is difficult, the prognosis always serious, the available therapy limited, and the mortality high.

Amyloidosis↗
PubMed2005

Utilization of drug-eluting stents in the Veterans Health Administration.

Little is known about how drug-eluting stents (DESs) are used and perform in everyday clinical practice. This report identifies factors associated with the use of DESs in the Veterans Health Administration and compares mortality and the need for coronary artery bypass graft surgery in patients who received DESs or bare metal stents. There was rapid adoption of DESs from the end of 2002 to September 2004, when 52% of percutaneous coronary interventions used DESs. Ten-day death rates in DES and bare metal stent groups were similar (0.8% vs 1.1%), as were 10-day bypass surgery rates (0.2% vs 0.4%). In summary, in a large health care system, DESs were used widely with low rates of death and bypass surgery.

Aged↗
PubMed2005

Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype.

PURPOSE: To investigate the proportion of breast cancers arising in patients with germ line BRCA1 and BRCA2 mutations expressing basal markers and developing predictive tests for identification of high-risk patients. EXPERIMENTAL DESIGN: Histopathologic material from 182 tumors in BRCA1 mutation carriers, 63 BRCA2 carriers, and 109 controls, collected as part of the international Breast Cancer Linkage Consortium were immunohistochemically stained for CK14, CK5/6, CK17, epidermal growth factor receptor (EGFR), and osteonectin. RESULTS: All five basal markers were commoner in BRCA1 tumors than in control tumors (CK14: 61% versus 12%; CK5/6: 58% versus 7%; CK17: 53% versus 10%; osteonectin: 43% versus 19%; EGFR: 67% versus 21%; P < 0.0001 in each case). In a multivariate analysis, CK14, CK5/6, and estrogen receptor (ER) remained significant predictors of BRCA1 carrier status. In contrast, the frequency of basal markers in BRCA2 tumors did not differ significant from controls. CONCLUSION: The use of cytokeratin staining in combination with ER and morphology provides a more accurate predictor of BRCA1 mutation status than previously available, that may be useful in selecting patients for BRCA1 mutation testing. The high percentage of BRCA1 cases positive for EGFR suggests that specific anti-tyrosine kinase therapy may be of potential benefit in these patients.

Biomarkers, Tumor↗
PubMed2005

Clinical anatomy of the inferior phrenic artery.

The majority of anatomical textbooks of gross anatomy offer very little information concerning the anatomy and distribution of the inferior phrenic artery (IPA). In the last decade, however, increased numbers of reports have appeared with reference to the arterial supply of hepatocellular carcinoma (HCC). The IPA is a major source of collateral or parasitized arterial supply to this type of carcinoma, second only to the hepatic artery. The aim of this study was to identify the origin and distribution of the IPA (right and left), in normal and pathological cases, and to apply such findings to the clinical scenario of treating hepatic cancer. We have examined 300 formalin-fixed adult cadavers lacking abdominal pathology, and 30 cadavers derived from patients with HCC. Dissections in normal cadavers showed that the right IPA originated from the: a) celiac trunk in 40% of the specimens; b) aorta in 38%; c) renal in 17%; d) left gastric in 3%; and e) hepatic artery proper in 2% of the specimens. The left IPA originated from the: a) celiac trunk in 47%; b) aorta in 45%; c) renal in 5%; d) left gastric in 2%; and e) hepatic artery proper in 1% of the specimens. The IPA gave rise to eight notable branches: ascending, descending, inferior vena cava, superior suprarenal, middle suprarenal, esophageal, diaphragmatic hiatal, and accessory splenic. The right IPA was always associated with HCC and served as the major collateral artery adjunct to the hepatic artery. These findings could have major implications in the transcatheter embolization of HCC patients.

Adrenal Glands↗
PubMed2005

A comparison of bilateral breast cancers in BRCA carriers.

BACKGROUND: Women with breast cancer and a BRCA mutation have a high risk of developing a contralateral breast cancer. It is generally believed that the two cancers represent independent events. However, the extent of concordance between the first and second tumors with respect to hormone receptor expression and other pathologic features is unknown. PURPOSE: To determine the degree of concordance of estrogen receptor (ER) status, tumor grade, and histology in tumors from women with bilateral breast cancer and a BRCA mutation. SUBJECTS AND METHODS: Women with a history of bilateral invasive breast cancers were selected from an international registry of women with BRCA1 or BRCA2 mutations. Medical records were reviewed to document the characteristics of each cancer and the treatments received. RESULTS: Data were available for 286 women with bilateral breast cancer and a BRCA mutation (211 BRCA1; 75 BRCA2). The mean interval between first and second tumor was 5.1 years. The two tumors were concordant more often than expected for ER status (P < 0.0001) and for grade (P < 0.0001), but not for histology (P = 0.55). The ER status of the first tumor was highly predictive of the ER status of the second tumor (odds ratio, 8.7; 95% confidence interval, 3.5-21.5; P < 0.0001). Neither age, menopausal status, oophorectomy nor tamoxifen use was predictive of the ER status of the second tumor. CONCLUSIONS: There is strong concordance in ER status and tumor grade between independent primary breast tumors in women with a BRCA mutation. The excess concordance may be due to common risk factors, genetic variation, or the existence of a preneoplastic lesion that is common to both tumors.

Adult↗
PubMed2005

Is diagnostic myocardial biopsy useful in the XXI century?

BACKGROUND: Progress in non-invasive diagnostic techniques such as ultrasonography, computerised tomography or magnetic resonance caused a significant decrease in the use of diagnostic myocardial biopsy (DMB). However, recent advances in molecular biology and widening knowledge about the role of new biochemical markers gives hope for more detailed assessment of cardiomyocyte pathophysiology, based on the proper examination of myocardial biopsy specimen. AIM: To assess current usefulness of DMB in the diagnosis of various myocardial disorders and monitoring after heart transplantation. METHODS: DMB was performed in 104 patients (84.6% males) with a clinical diagnosis of idiopathicdilated cardiomyopathy (35.6%), post-inflammatory dilated cardiomyopathy (22.1%), restrictive cardiomyopathy (2.9%), post-infarction myocardial injury (17.3%), ventricular arrhythmias resistant to treatment (2.9%), cardiac tumour (0.96%), suspected arrhythmogenic right ventricular dysplasia (0.96%) and with transplanted heart (17.3%). In each patient 3-4 specimens of the right ventricular cardiac muscle were taken. Immunohistochemical reactions were used to assess the presence of desmin. Myocarditis was diagnosed on the basis of morphological assessment of specimens stained with HE, Mallory trichome and immunohistochemical methods which identified lymphocytes T (CD3, OPD 4, UCHL1), endothelium (CD34) and antigen MHC II (DP, QR). In addition, specimens suggesting laminopathy or amyloidosis were examined under electron microscope. RESULTS: DMB revealed the absence of desmin (19.2%), abnormal concentration of desmin (21.1%), myocarditis (19.2%), so-called vascular myocardial injury (16.3%), other proteinopathies (2.3%), amyloidosis (1.9%), connective tissue diseases (0.96%), arrhythmogenic right ventricular dysplasia (0.96%), toxic injury (0.96%) and normal myocytes (0.96%). CONCLUSIONS: Our results suggest that complex analysis of myocardial biopsy specimen provides detailed information of the pathogenesis of cardiac disorders. However, further progress in molecular biology is needed to achieve more complete diagnosis.

Adult↗
PubMed2005

Cardiac amyloidosis diagnosed by endomyocardial biopsy. Clinical, histopathological, immunohistochemical and ultrastructural studies.

BACKGROUND: The heart is often involved by primary (AL) and familial transthyretin-related (ATTR) amyloidosis. Endomyocardial biopsy is a valuable diagnostic method, useful in detection and recognition of the type of amyloid. AIM: The aim of the study was to determine the type of amyloid deposits found in endomyocardial biopsies, using histochemical, immunohistochemical and ultrastructural methods. The correlations between morphological and clinical parameters were evaluated. METHODS AND RESULTS: During 1999-2004, endomyocardial biopsy was performed in 41 patients hospitalized in our institution due to heart failure of unknown etiology. Amyloid deposits were revealed in 3 patients, in 2 of them the intraoperative specimens were also taken. The deposits were located in myocardial interstitium as well as in the wall of small vessels. One patient showed deposits in the atrial and pericardial walls. Electron microscopy study revealed amyloid fibers adhering to the basement membranes of the myocardial cells and small vessels. Immunohistochemical staining determined two types of amyloid. A woman aged 42 showed transthyretin-related amyloidosis, most probably hereditary. A woman aged 69 exhibited the light chains amyloidosis (AL-lambda). In contrast, diagnosis was not certain (most probably ATTR) in a 35 year old woman. Essential involvement of the pericardium was observed in two younger patients. They underwent pericardiotomy. The survival time (from diagnosis to death) was one year in the patient with amyloidosis ATTR, 17 days in the patient with the AL type, and 2 years in the patient with amyloidosis of undetermined type. CONCLUSIONS: Cardiac amyloidosis is associated with poor prognosis. Better recognition of this disease may allow the early diagnosis and institution of modern therapy.

Adult↗
PubMed2004

Mucosa-associated lymphoid tissue lymphoma (MALT) of salivary glands and scleroderma: a case report.

The connection between scleroderma and lymphoma is uncommon and its pathogenic relationship is a much debated subject. We describe the case of a patient with mucosa-associated lymphoid tissue lymphoma (MALT) of both parotid glands without clinical signs of Sjögren's syndrome who simultaneously developed scleroderma. Independently of the pathogenic mechanism of these two diseases, it seems very important to emphasize that scleroderma may be the first manifestation of lymphoma.

Adult↗
PubMed2004

Pathology of ovarian cancers in BRCA1 and BRCA2 carriers.

PURPOSE: Germline mutations in the BRCA1 and BRCA2 genes confer increased susceptibility to ovarian cancer. There is evidence that tumors in carriers may exhibit a distinct distribution of pathological features, but previous studies on the pathology of such tumors have been small. Our aim was to evaluate the morphologies and immunophenotypes in a large cohort of patients with familial ovarian cancer. EXPERIMENTAL DESIGN: We performed a systematic review of ovarian tumors from 178 BRCA1 mutation carriers, 29 BRCA2 mutation carriers, and 235 controls with a similar age distribution. Tumors were evaluated by four pathologists blinded to mutation status. Both morphological features and immunochemical staining for p53 and HER2 were evaluated. RESULTS: Tumors in BRCA1 mutation carriers were more likely than tumors in age-matched controls to be invasive serous adenocarcinomas (odds ratio, 1.84; 95% confidence interval, 1.21-2.79) and unlikely to be borderline or mucinous tumors. Tumors in BRCA1 carriers were of higher grade (P < 0.0001), had a higher percentage solid component (P = 0.001), and were more likely to stain strongly for p53 (P = 0.018). The distribution of pathological features in BRCA2 carriers was similar to that in BRCA1 carriers. CONCLUSIONS: Use of pathological features can substantially improve the targeting of predictive genetic testing. Results also suggest that BRCA1 and BRCA2 tumors are relatively aggressive and may be expected to have poor prognosis, although this may be treatment dependent.

Adult↗
PubMed2004

Histopathological and immunohistochemical analysis of lymphoid follicles in labial salivary glands in primary and secondary Sjögren's syndrome.

BACKGROUND: Ectopic lymphoid follicles are considered morphological indices of local chronic antigen stimulation. The objective of this study was to present a detailed histopathological and immunohistochemical analysis of ectopic lymphoid follicles in salivary glands in Sjögren's syndrome (SS), compared to lymphoid follicles in lymph nodes. MATERIAL/METHODS: Samples of labial salivary glands from 37 patients with primary and 57 with secondary SS were examined by histopathology and immunohistochemical methods with monoclonal antibodies (DAKO) to identify follicular dendritic cells, T and B lymphocytes, immunoglobulins and class II MHC HIA DPQR. Lymph nodes from 2 patients with primary SS were also examined for the same markers. RESULTS: Focal inflammatory infiltrations in labial salivary glands in 64.9% of primary and 23.1-49.6% secondary SS were found to morphologically mimic lymphoid follicles in various stages of development. Secondary ectopic lymphoid follicles resemble the histological structure and immunohistochemistry of germinal centers in lymphoid follicles in reactive lymph nodes due to the large number of centrally located B cells (CD20+), reticular pattern of dendritic cells (CD21+) and T helper/inducer cells (CD4+). The centers of secondary ectopic lymphoid follicles contain deposits of IgG and IgM. CONCLUSIONS: Ectopic lymphoid follicles quite often present in labial salivary gland in SS show structural and immunohistochemical features typical for lymphoid tissue. These ectopic follicles are the place of immune complex trapping, antigen presentation on dendritic cells and initiation of autoimmunologic response. This finding seems be very important for better understanding of the pathogenesis and diagnosis of SS as an autoimmunlogical disorder.

Adult↗
PubMed2004

A retroesophageal right subclavian artery originating from the left aortic arch -- a case report and review of the literature.

The retroesophageal right subclavian artery is an anatomical abnormality encountered by anatomists and pathologists and recently interventional cardiologists and thoracic surgeons have also come across this phenomenon. We report a case of a retroesophageal right subclavian artery arising from a normally located left aortic arch in a young male autopsied in the Department of Forensic Service of Warsaw Medical University. In addition to the aforementioned anomaly, the presence of a right non-recurrent inferior laryngeal nerve was noticed. The possible embryonic development of these branching patterns and their clinical significance is discussed.

Adult↗
PubMed2002

Polymerase chain reaction fidelity and denaturing high-performance liquid chromatography.

Incorporation of non-complementary nucleotides during polymerase chain reaction can result in ambiguous denaturing high-performance liquid chromatography profiles that reduce both sensitivity and specificity of mutation analysis. The use of proofreading DNA polymerases increases the fidelity of polymerase chain reaction and, consequently, reduces background noise in the chromatograms. This is demonstrated for several BRCA1 and BRCA2 mutations hat had yielded previously chromatograms of poor quality using non-proofreading enzyme for amplification. Interestingly, despite the reduced level of background heteroduplices, the ability of denaturing high-performance liquid chromatography to detect mutant alleles at a frequency <10% in pools of chromosomes did not improve significantly.

Base Sequence↗