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Background: Despite conflicting results, considerable evidence suggests the association between single nucleotide polymorphisms in MTHFR, XRCC1 and OGG1 genes and, risk of developing breast cancer. Here a case-control study is reported, including 135 breat cancer patients and 112 healthy women, all representative of Northern Sardinian population., Methods: Polymerase chain reaction/restriction fragment length polymorphism method was used to determine the genotypes of five polymorphisms: MTHFR C677T (rs1801133) and A1298C (rs1801131), XRCC1 Arg194Trp (rs1799782) and Arg399Gln (rs25487) and OGG1 Ser326Cys (rs1052133). Allelic, genotypic and haplotype association analyses with disease risk and clinicopathological parameters were performed., Results: A nominally significant association with breast cancer risk was observed for MTHFR C677T polymorphism heterozygous genotype in the codominant model (OR: 0.57, 95% CI: 0.32-1.00, p = 0.049) and for Cys/Cys genotype of the OGG1 Ser326Cys polymorphism in the recessive model (OR: 0.23, 95% CI: 0.05-1.11, p = 0.0465). No significant differences were found at genotype-level for A1298C polymorphism of the MTHFR gene and Arg194Trp and Arg399Gln of the XRCC1 gene. Furthermore, the OGG1 and XRCC1 rs25487 polymorphisms were nominally associated with PgR, Her2 status and with sporadic breast cancer, respectively., Conclusions: Based on genetic characteristics of individuals included in this study, results suggest that MTHFR CT and OGG1 Cys/Cys genotypes have a protective effect that may have an influence on breast cancer risk in a representative Northern Sardinian population.

We investigated the clinical impact of breast scintigraphy acquired with a breast specific γ-camera (BSGC) in the diagnosis of breast cancer (BC) and assessed its incremental value over mammography (Mx). A consecutive series of 467 patients underwent BSGC scintigraphy for different indications: suspicious lesions on physical examination and/or on US/MRI negative at Mx (BI-RADS 1 or 3), characterization of lesions suspicious at Mx (BI-RADS 4), preoperative staging in lesions highly suggestive of malignancy at Mx (BI-RADS 5). Definitive histopathological findings were obtained in all cases after scintigraphy: 420/467 patients had BC, while 47/467 patients had benign lesions. The scintigraphic data were correlated to Mx BI-RADS category findings and to histology. The incremental value of scintigraphy over Mx was calculated. Scintigraphy was true-positive in 97.1% BC patients, detecting 96.2% of overall tumor foci, including 91.5% of carcinomas ≤10 mm, and it was true-negative in 85.1% of patients with benign lesions. Scintigraphy gave an additional value over Mx in 141/467 cases (30.2%). In particular, scintigraphy ascertained BC missed at Mx in 31 patients with BI-RADS 1 or 3, including 26 patients with heterogeneously/high dense breast (19/26 with tumors ≤10 mm) and detected additional clinically occult ipsilateral or controlateral tumor foci (all <10 mm) or the in situ component sited around invasive tumors in 77 BC patients with BI-RADS 4 or 5, changing surgical management in 18.2% of these cases; moreover, scintigraphy ruled out malignancy in 33 patients with BI-RADS 4. BSGC scintigraphy proved a highly sensitive diagnostic tool, even in small size carcinoma detection, while maintaining a high specificity. The procedure increased both the sensitivity of Mx, especially in dense breast and in multifocal/multicentric disease, and the specificity as well as it better defined local tumor extension, thus guiding the surgeon to a more appropriate surgical treatment.

Single photon emission computed tomography (SPECT)/CT is emerging as a useful diagnostic tool in several oncological fields. In this prospective study, we assessed the usefulness of Tc-99m-tetrofosmin SPECT/CT in the detection of both residual breast tumors and axillary lymph node metastases following neoadjuvant therapy. Thirty-seven consecutive breast cancer patients scheduled to surgery following neoadjuvant therapy preoperatively underwent a Tc-99m-tetrofosmin SPECT/CT study, using a dual head gamma camera integrated with a x-ray tube for low-dose CT, including both breasts and axillary regions in the field of view. Within 1 week of SPECT/CT, all 37 patients had breast surgery with associated axillary lymph node dissection in 33/37 cases. At surgery, 31/37 patients had breast residues (microscopic in 4/31 cases and macroscopic in 27/31 cases). Axillary lymph node metastases were ascertained in 19/33 cases (N1mi: 2 cases, N1a: 8 cases, N2a: 6 cases, N2b: 3 cases). SPECT/CT sensitivity, specificity, and accuracy in detecting residual tumors were 87%, 100%, and 89.2%, respectively; the corresponding values in detecting axillary lymph node metastases were 36.8%, 92.8%, and 60.6%. SPECT/CT missed breast cancer residues in 4/31 patients, including 2 cases with microscopic residual disease. Moreover, lymph node metastases were missed in 12/19 patients (10/12 with pN1mi or pN1a metastases), all with lymph nodes with post-therapy fibrotic changes and small deposits of metastases. Tc-99m-tetrofosmin SPECT/CT proved a useful diagnostic tool in the detection and in the localization of residual breast tumors following neoadjuvant therapy. The procedure lacked in sensitivity in identifying axillary lymph node metastases, especially in patients with a limited lymph node involvement. According to our data, SPECT/CT may guide the surgeon to the most appropriate breast surgical treatment and to eventually select the most suitable axillary lymph node sampling (axillary lymph node dissection or sentinel node biopsy).

Aim: We evaluated the usefulness of planar scintimammography (SM) with a high resolution dedicated breast camera (DBC) in comparison with single photon emission computed tomography (SPECT)/computed tomography (CT) in primary breast cancer detection., Methods: A consecutive series of 157 patients with breast lesions suspicious for cancer at conventional diagnostic procedures were studied with both DBC planar SM and SPECT/CT using [99mTc]tetrofosmin as radiotracer. Scintigraphic data have been related with definitive histopathological findings in all cases., Results: Breast cancer was ascertained in 127/157 patients and benign disease in the remaining 30 cases, with a total of 140 carcinomas and 33 benign lesions. DBC planar SM detected 95.7% of overall carcinomas, while SPECT/CT 90.7% (P<0.01). In =or<10 mm carcinomas, sensitivity was 89.1% for DBC planar SM and 78.3% for SPECT/CT (P<0.05); in carcinomas >10 mm the corresponding values were 98.9% and 96.8%, respectively. Specificity value was 87.9% for both procedures; accuracy value was 94.2% for DBC and 90.2% for SPECT/CT (P<0.01). Forty-six out of 127 breast cancer patients had axillary lymph node metastases; SPECT/CT was positive in 36/46 (78.3%) cases and showed a 96.4% specificity value. DBC planar SM identified metastases in only 4 cases., Conclusions: DBC planar SM proved a useful diagnostic method in primary breast cancer detection, showing significantly higher sensitivity and accuracy values than SPECT/CT, especially in small size carcinomas. Thus, DBC planar SM should be preferred, although SPECT/CT, given its high performance, could represent a useful alternative when DBC is not available. Moreover, SPECT/CT, but not DBC, can contribute to providing information on axillary lymph node status.

Aim: The aim of this study was to compare preoperative planar scintimammography (SM) with high resolution dedicated breast camera (DBC) and conventional mammography in the detection of multifocal, multicentric and bilateral breast cancer and its impact on surgical planning., Methods: A series of 264 consecutive patients, 232 with breast cancer and 32 with benign lesions, underwent [(99m)Tc]tetrofosmin planar SM with a newly developed DBC (LumaGEM 3200S/12K, Gamma Medica-Ideas Inc.). Scintigraphic with mammography data were compared and correlated with histopathological findings., Results: At surgery, ipsilateral multifocal or multicentric breast cancer in 40 patients, invasive in 24 cases (group 1) and in situ in 16 (group 2) was ascertained, and synchronous bilateral breast cancer in 4 patients (group 3). Globally, SM was positive for cancer in 41 out of the 44 breast cancer patients (93.2%) and mammography was positive in 40 out of 44 (90.1%). SM revealed multifocal/multicentric disease in 87.5% of group 1/goup 2 patients and mammography in 47.5% (P<0.0005): SM detected a significantly higher number of additional invasive foci than mammography (89.6% vs 37.9%, P<0.0005); only SM revealed ipsilateral multifocality/multicentricity in 35% of cases. Bilaterality was detected by SM in 100% of group 3 patients and by mammography in 75%. Overall specificity was 88.2% for SM and 52.9% for mammography. SM correctly changed surgical management in 16% of cases., Conclusions: DBC planar SM proved a more highly sensitive diagnostic method than mammography in the preoperative assessment of both ipsilateral multifocal/multicentric breast cancer and synchronous bilateral breast cancer. The procedure contributed to correctly changing patient surgical management in some cases, suggesting its wider use complementary to mammography.

Planar scintimammography (SM) acquired with a conventional gamma camera has proved a useful complementary tool to mammography (Mx) in breast cancer (BC) diagnosis, but with unsatisfactory sensitivity in small size carcinomas. In this study we assessed the role of planar SM with a high-resolution dedicated breast camera (DBC) in BC diagnosis, comparing the results with those of Mx.A consecutive series of 145 patients scheduled for biopsy for suspected BC underwent Tc-99m tetrofosmin planar SM using a newly developed DBC. Scintigraphic data were compared with Mx findings and correlated to histology.Histopathologic analysis revealed 165 lesions: 143 malignant and 22 benign. SM detected 139/143 carcinomas (overall sensitivity: 97.2%) and was true negative in 19/22 benign lesions (overall specificity: 86.4%). SM sensitivity was 91% in < or =10-mm carcinomas. SM was more accurate than Mx in 42/145 cases (29%), detecting cancer in 9 patients with Mx indeterminate for dense breasts (8/9 tumors were <10 mm), assessing additional tumor foci (all <10 mm) in 5 points with multifocal disease and correctly classifying 28 patients with inconclusive mammographic findings as affected by cancer or by benign disease. Mx was more accurate than SM in 3 patients, in each detecting 1 subcentimeter BC false negative on SM.DBC planar SM seems a highly sensitive diagnostic tool in the detection of BC, even when small in size, and in the assessment of multifocal disease. A wider employment of this procedure is thus suggested, especially in indeterminate or inconclusive mammographic findings to improve sensitivity and specificity of Mx.

Conventional imaging procedures have proved of limited value in assessing tumor response to neoadjuvant chemotherapy in locally advanced primary breast cancer (LAPBC). We evaluated the usefulness of radioisotopic procedures comparing planar scintimammography (SM) to SPECT, monitoring pre-surgery neoadjuvant chemo- or hormonotherapy response in 32 LAPBC patients. In all cases, 99mTc-tetrofosmin conventional planar SM and SPECT were acquired by dual-head gamma camera with HR parallel hole collimators. In 15 cases, planar SM with small field of view high resolution dedicated breast camera (DBC) was also acquired. Scintigraphic data always correlated with histopathological findings. At surgery, 4/32 patients had pathological complete remission (pCR), while 28/32 patients had residual tumors. Both conventional planar SM and SPECT were true negative in 4/4 (100%) pCR patients, as was DBC in the only studied case. Conventional planar SM and SPECT detected residual tumors in 23/28 (82%) and in 25/28 (89.2%) cases, respectively. Both procedures missed 2 multifocal, scattered microscopic residues, only evidenced at DBC. Conventional planar SM also missed 3 further macroscopic residues (15-20 mm), while SPECT only one of these, a mucinous BC, in which DBC was not performed. DBC correctly classified all other 12 patients in whom the procedure was performed. Both conventional planar SM and SPECT proved useful diagnostic tools in monitoring neoadjuvant chemo/hormono therapy response in LAPBC with SPECT appearing more sensitive; however, our data, although in a limited number of cases, suggest that sensitivity can further be increased using high resolution DBC, especially in detecting microscopic residual tumor foci.

We evaluated the usefulness of (99m)Tc-tetrofosmin planar scintigraphy acquired with a high-resolution (HR) dedicated breast camera in comparison with conventional single-photon emission computed tomography (SPECT) and pinhole-SPECT (P-SPECT) in breast cancer (BC) axillary lymph node metastasis detection in a consecutive series of 76 BC patients, 28 of whom had axillary lymph node metastases, including 9 positive at clinical examination. HR planar scintigraphy was true positive in only 7 patients with >3 palpable metastases (sensitivity: 25%), while SPECT was true positive in 23 of 28 cases (sensitivity: 82.1%) and P-SPECT in 25 of 28 (sensitivity: 89.3%). SPECT was false negative in 5 patients with nonpalpable 3 metastatic nodes. SPECT should be preferred, significantly improving the sensitivity of planar scintigraphy, especially when using a pinhole collimator.

The aim of this study was to assess the usefulness of planar scintimammography (SM) with a high-resolution dedicated breast camera (DBC) compared to SPECT in unifocal and multifocal/multicentric primary breast cancer (BC) detection. DBC planar SM and conventional SPECT were acquired using 99mTc-tetrofosmin as radiotracer in 85 consecutive patients suspect for BC at conventional imaging and clinical examination. Scintigraphic data were related to histology in all cases. BC was proven in 74/85 patients, unifocal in 56/74 cases and multifocal/multicentric in 18/74; 90 carcinomas were ascertained. Benign lesions were found in 12 cases, including one who also had BC in the contralateral breast. DBC planar SM and SPECT were true-positive in 72/74 and in 70/74 BC patients, respectively, and globally detected 96.7% and 92.2% of carcinomas. DBC and SPECT sensitivity were, respectively, 90.3% and 80.6% in