MRI‐Guided Breast Needle Core Biopsies: Pathologic Features of Newly Diagnosed Malignancies

Magnetic resonance imaging (MRI) of the breast is used for select groups of patients. MRI‐guided breast core needle biopsies performed over a 3‐year period were retrospectively reviewed to determine the incidence and types of cancers found and to correlate the cancers with the MRI findings and the indication for the study. Patients were stratified based on indication for MRI examination including, evaluation of disease extent in patients with current ipsilateral carcinoma, surveillance for recurrence of prior ipsilateral carcinoma, as a problem‐solving method and for screening high‐risk patients. The high‐risk screening group included those with family history (with or without germline mutations), prior chest wall radiation, and contralateral breast carcinoma (current or prior). Four‐hundred and forty‐five biopsies were performed on 386 patients. The majority of biopsies (79%) were benign. Biopsies demonstrating ductal carcinoma in situ (DCIS) and invasive carcinoma were more likely to present as nonmass‐like and mass‐forming enhancements respectively, but with only 52% specificity. The highest rate of malignancy (44%) was seen in the least frequently biopsied patient group (n = 25), those with prior ipsilateral carcinoma. Conversely, the most frequently biopsied group (n = 283), the high‐risk screening group, demonstrated the lowest malignancy rate (16%). Within this group, most malignant cases were invasive carcinomas (n = 27), 67% of which were small (≤1 cm), well or moderately differentiated with a good prognostic receptor profile (estrogen receptor positive, human epidermal growth factor receptor 2 negative), and lacked nodal macrometastases. The remaining malignant cases in the high‐risk screening group were DCIS with or without microinvasion (n = 18), 78% of which demonstrated high nuclear grade. Overall, enhancement pattern did not correlate with the likelihood of or type of malignancy. The most common types of carcinomas identified by screening were small estrogen receptor positive invasive tumors and high grade DCIS.     

Dynamic Contrast‐Enhanced MRI Reveals the Extent and the Microvascular Pattern of Breast Ductal Carcinoma In Situ

To report the role of magnetic resonance imaging (MRI) in assessing the extent of breast ductal carcinoma in situ (DCIS). To assess whether the microvascularity pattern in DCIS correlates with magnetic resonance enhancement. Eighty‐five histologically proven DCIS (77 pure DCIS, eight microinvasive DCIS) were prospectively studied with MRI. The morphology of magnetic resonance enhancement and the kinetic curve was recorded. Histopathologically, intraductal lesions were classified according to Van Nuys score. Tumor microvascularity was immunohistochemically assessed in a subset of 24 DCIS evaluating the number of microvessels, microvascularity area, and microvascularity pattern (diffuse or periductal). On the mammogram, 74% of DCIS appeared as microcalcifications. On MRI, 70% of DCIS showed enhancement. Non‐mass‐like uptake was observed in 78% of cases. The mean size of nonenhancing carcinomas was significantly lower than that of enhancing carcinomas (p = 0.033). The diffuse pattern was more frequent than the periductal pattern. A significant relationship between the morphology of MR enhancement and the microvascularity pattern was observed (p = 0.036); thus, 90% of DCIS showing segmental enhancement on MRI displayed a diffuse pattern while all DCIS with ductal enhancement showed a periductal pattern. There was a significant relationship between the maximum area of microvascularity and the vascular pattern (p = 0.015); periductal patterns showed larger areas than diffuse patterns. The lesion size was significantly larger as the Van Nuys score increased (p < 0.001) and was also related to the number of microvessels (p = 0.012). The mean area of microvascularity of DCIS was significantly larger as the Van Nuys score increased (p = 0.02). Breast MRI helps depict the extent of DCIS and reveals its microvascular pattern.     

Apocrine Metaplasia Found at MR Biopsy: Is There Something to be Learned?

The purpose of this study was to determine (a) the frequency of apocrine metaplasia (ApoM) found on MR core biopsy of suspicious findings, and (b) to determine if there are specific MR imaging features that might obviate the need for biopsy. This HIPAA‐compliant retrospective study was performed under IRB exemption for quality assurance studies. Patient demographics, MR imaging features, and pathology were reviewed. Breast lesions which underwent MR‐guided biopsy, yielding ApoM on pathology analysis were included. Retrospective review of MR imaging features of these lesions was performed by two radiologists blinded to pathology results except for the presence of ApoM. Imaging features on MR assessed included location, size, morphology, T1 and T2 signals, and enhancement kinetics. Full pathology results were subsequently reviewed during data analysis. The pathology slides and imaging was subsequently reviewed by two fellowship trained radiologists and a breast pathologist to categorize the finding of ApoM into target lesion (imaging corresponds to size of lesion on pathology) versus incidental lesion. Target lesion characteristics were assessed to determine specific MRI features of ApoM. Between January 2011 to November 2012, 155 distinct breast lesions suspicious for malignancy successfully underwent MR‐guided biopsy. Of the 155 lesions biopsied, 123 (79%) were benign and 32 (21%) were malignant. Of the 123 benign biopsies, ApoM was found in 57 (46%), of which 35 (61%) had no associated atypia and 22 (39%) had associated atypia. Of the 32 malignant biopsies, three (9%) had associated ApoM (DCIS in two cases and DCIS/LCIS in one case). Of the 60 cases with ApoM, only 11 (18.3%) were target lesions and 49 were incidental lesions (81.7%). Of the 60 cases with ApoM, 35 (58%) were masses (average size 0.8 cm for both with or without atypia) and 25 (42%) were nonmass enhancement (NME) (average size 2.1 cm with and 1.0 cm without atypia). Only five (14%) of 35 masses demonstrated spiculated margins, of which four were associated with atypia (80%). Of 22 lesions with atypia or other high‐risk lesion, 14 (64%) were masses, most commonly with irregular margins (64%). Of the 12 T2 hyperintense lesions, only two (1.7)% had associated atypia or high‐risk lesion, and none were associated with malignancy. Of the 11 target lesions, seven were T2 hyperintense. Enhancement kinetics were variable: 30 (50%) showed mixed persistent and plateau kinetics, eight (13%) persistent delayed enhancement, 10 (17%) plateau kinetics, four (7%) washout kinetics, and eight (13%) were below threshold for kinetic analysis. ApoM is a common benign pathologic result at MR‐guided core biopsy for both masses and NME accounting for 39% of all biopsy results in this series. Although there is considerable variability in imaging characteristics on MR, our results suggest biopsy may be safely obviated for lesions that are subcentimeter T2 hyperintense areas of NME and short term follow‐up imaging may be a reasonable alternative for these lesions.     

The Relationships between HER2 Overexpression and DCIS Characteristics

The aim of this study was to demonstrate the correlation between human epidermal growth factor receptor 2 (HER2) overexpression and some poor prognosis factors in patients affected by ductal carcinoma in situ (DCIS). We evaluated 48 cases of DCIS, divided into two groups according to HER2 amplification status. Nuclear grade and “cancerization of lobules” were determined within primary DCIS and Ki67, estrogen receptor (ER), PR, and HER2 expression was established using immunohistochemistry. The histopathological variables in HER2‐positive and in HER2‐negative patients were compared to determine the recurrence risk. We also considered the median age at the time of surgery according to HER2 status. There were 11 recurrences (23%), 6 DCIS (55%), and 5 invasive cancer (45%). In an 8‐year‐long median follow‐up, we hypothesized high risk of recurrence in HER2‐positive DCIS. Patients with HER2‐positive DCIS were younger than HER2‐negative ones (p = 0.002). HER2‐positive DCIS was also related to histopathological predictors of recurrence such as high nuclear grade (p < 0.001), high Ki67 expression (p = 0.003), low ER and PgR levels (p < 0.001), and the presence of “cancerization of lobules” (p < 0.049). Our trial suggests that HER2 amplification in primary DCIS is identified more frequently in younger patients and hypothesizes high risk of recurrence in HER2‐positive DCIS related to histopathological predictors of overall relapse as high nuclear grade, high Ki67 expression, low ER and PgR levels, and the presence of “cancerization of lobules.” In HER2‐positive DCIS, other variables of recurrence risk are compared to HER2‐negative lesions, without statistical significance. Our results show that HER2 testing might suggest clinicians the optimal treatment of patients with DCIS.     

Upgrade Rate and Imaging Features of Atypical Apocrine Lesions

The purpose of our work was to identify imaging features of atypical apocrine lesions and determine the rate of upgrade to ductal carcinoma in situ (DCIS) or invasive carcinoma at excision after such a diagnosis on percutaneous breast biopsy. From January 1, 2006, through October 8, 2013, a total of 33,157 breast core biopsies were performed at University of Pittsburgh Medical Center. Of those, 58 (0.2%) showed atypical apocrine lesions. For 24, atypical apocrine adenosis (AAA) or atypical apocrine metaplasia (AAM) was the only risk lesion, with no known ipsilateral malignancy, and the results of excision were available. The median patient age was 58 years (range 43–88). Among 24 atypical apocrine lesions (20 AAA and 4 AAM), four (16.7%; 95% confidence interval: 4.7, 37.4) were upgraded at excision: one invasive ductal carcinoma (grade 2, 0.2 cm, estrogen receptor positive, progesterone receptor positive, HER2/Neu negative) and three DCIS (two grade 3, one grade 2). All four upgraded lesions were AAA (20%; 4/20). Twelve AAA were seen as an irregular (n = 9) or circumscribed (n = 3) mass on ultrasound; three masses had calcifications. Six of 20 (30%) AAA were seen on biopsy of calcifications only and calcifications were within two AAA lesions at histopathology. One AAA (1/20, 5%) was asymmetry only, and one (1/20, 5%) a persistently enhancing MR focus. All four malignancies were masses on ultrasound (three irregular, one circumscribed), and three malignancies had calcifications (two coarse heterogeneous, one amorphous). While concordant with an irregular or circumscribed mass on imaging, with or without amorphous or coarse heterogeneous calcifications, AAA merits excision with a 20% upgrade rate to malignancy. Further study of AAM is warranted.     

Clinicopathologic analysis of a large series of microinvasive breast cancers

Clinical management of microinvasive breast cancer (Tmic) remains controversial. Although metastases are infrequent in Tmic carcinoma patients, surgical treatment typically includes lymph node sampling. The objective of this study was to determine the rate and predictors of lymph node metastases, recurrence, and survival in a large series of Tmic breast carcinomas. Consecutive cases of Tmic were identified within our health care system from 2001 to 2015. We reviewed results of lymph node sampling and other pathologic factors including hormone receptor/HER2 status, associated in situ tumor size/grade, margin status, number of invasive foci, surgical/adjuvant therapies, and recurrence/survival outcomes. In this cohort, 294 Tmic cases were identified with mean follow‐up of 4.6 years. Of 260 patients who underwent axillary staging, lymph node metastases were identified in 1.5% (all of which were ductal type). All Tmic cases with positive lymph node metastases had associated DCIS with size > 5 cm (5.3‐8.5 cm) compared to a median DCIS tumor size of 2.5 cm (0.2‐19.0 cm) for the entire cohort. No lymph node metastases were seen with microinvasive lobular carcinoma. During the follow‐up period, there were no regional/distant recurrences or breast cancer‐associated deaths in a mean follow‐up period of 4.6 years. Two patients developed subsequent ipsilateral breast cancer (DCIS) in a different quadrant than the original Tmic. Clinical behavior of microinvasive breast cancer in this series is similar to DCIS. Lymph node metastases are uncommon and were only seen with ductal type microinvasive carcinoma. Our data suggest limited benefit for routine node sampling and support management of Tmic similar to DCIS, particularly for patients with DCIS < 5 cm in size.     

Breast Nonmass Enhancement Detected with MRI: Uility and Lesion Characterization with Second‐Look Ultrasonography

The purpose of this study was to verify the utility of second‐look ultrasonography (US) in evaluating nonmass enhancement (NME) lesions detected on breast magnetic resonance imaging (MRI) by analysing its correlation and imaging features. From July 2008 to June 2012, 102 consecutive MRI‐detected NME lesions were subsequently evaluated with US. Lesions were evaluated according to the established Breast Imaging Reporting and Data System (BI‐RADS) lexicon. The correlation between MRI‐detected NME lesion characteristics, lesion size, histopathological findings and features at second‐look US were analysed. Second‐look US identified 44/102 (43%) of the NME lesions revealed by MRI. A US correlate was seen in 34/45 (76%) malignant lesions compared with 10/57 (18%) benign lesions (p < 0.0001). The likelihood of malignancy was significantly higher for NME lesions with a US correlate than lesions without: 34/44 (77%) versus 11/58 (19%) (p < 0.0001). The malignancy of the 44 (43%) MRI‐detected NME lesions with a US correlate was significantly associated with US lesion margins and BI‐RADS categories (p = 0.001 and 0.002 respectively). Second‐look US of MRI‐detected NME lesions is useful for decision‐making as part of the diagnostic workup. Familiarity with the US features associated with malignancy improves the utility of US in the workup of these NME abnormalities.     

MR Imaging Findings in Molecular Subtypes of Breast Cancer According to BIRADS System

To evaluate magnetic resonance imaging (MRI) findings, according to Breast Imaging‐Reporting and Data System (BI‐RADS), and to relate them with molecular subtypes of breast cancer. The MRI findings were reviewed retrospectively in 201 women diagnosed of invasive breast cancer confirmed by surgery and were compared with the molecular subtypes. Following the BI‐RADS, MRI findings included disease type, size, enhancement, morphology and contrast kinetics. In mass‐like lesion types were studied shape, margin and enhancement, and in nonmass‐like lesion types, distribution modifiers and internal enhancement. Chi‐squared analysis showed significant association (p < 0.01) between molecular subtypes and lesion type on MRI and histologic grade. Shape, margin and mass enhancement (p < 0.05) also showed significant association among molecular subtypes. Triple negative were more frequently unifocal and mass‐like lesion, high histologic grade, round shape, smooth margin, and rim enhancement. Luminal‐A were more frequently low grade, mass‐like lesion, irregular shape and spiculated or irregular margin. Luminal‐B were more frequently moderate‐low grade, mass‐like lesion, nonirregular shape and spiculated margin. HER‐2‐enriched were more frequently moderate grade, nonmass‐like lesion and multicentric lesions were more present than in other subtypes. There are significantly different MRI features, according to BI‐RADS, between the molecular subtypes breast cancer.     

Freezability of water buffalo bull (Bubalus bubalis) spermatozoa is improved with the addition of curcumin (diferuoyl methane) in semen extender

Effects of curcumin as antioxidant in extender were evaluated on freezability of buffalo spermatozoa. Semen from each of the five bulls (n = 3 replicates, six ejaculates/bull, a total of 30 ejaculates) was diluted in Tris‐citric acid extender containing curcumin (0.5, 1.0, 1.5 or 2.0 mM) or control. At pre‐freezing and post‐thawing, total antioxidant contents (μM/L) and lipid peroxidation levels (μM/ml) were higher (p < .05) and lower (p < .05) respectively, with 1.5 and 2.0 mM compared to 0.5 and 1.0 mM curcumin and control. At post‐thawing, progressive motility (PM, %) and rapid velocity (RV, %) were higher (p < .05) with 1.5 mM compared to other doses of curcumin and control (except in case of RV, 1.5 was similar with 1.0 mM). Kinematics (average path velocity, μm/s; straight‐line velocity, μm/s; curved‐line velocity, μm/s; straightness, %; linearity, %), in vitro longevity (%, PM and RV) and DNA integrity (%) at post‐thawing were higher (p < .05) with 1.5 mM compared to control. At post‐thawing, supravital plasma membrane integrity (%) and viable spermatozoa with intact acrosome (%) were higher with 1.5 compared to 2.0 mM curcumin and control. We concluded that freezability of water buffalo spermatozoa is improved with the addition of 1.5 mM curcumin in extender.     

High‐Grade Histologic Features of DCIS are Associated with R5 Rather than R3 Calcifications in Breast Screening Mammography

Mammographic calcification is an important radiologic feature of early breast carcinoma whose index of suspicion for malignancy may be reported by a five‐tier R‐category system. This study aims to describe the histologic diagnoses underlying screen‐detected mammographic calcifications using both digital and screen‐film mammography, and to correlate these findings with radiologic R‐categories. Patients attending the Merrion Breast Screening Unit in Dublin between 2000 and 2011 were identified, who underwent needle‐core biopsy for assessment of mammographic calcifications without associated mass or architectural distortion. Radiologic R‐category was correlated with biopsy and excision histology reports. A total of 776 cases of calcification were identified, involving 769 individual patients. The radiologic R‐categories were as follows: R3 513 (66.1%), R4 192 (24.7%), R5 71 (9.1%). The positive predictive values for malignancy were R3 32.6%, R4 69.8%, R5 95.8%. Several histologic features of DCIS were associated with R5 rather than R3 radiology: high nuclear grade, solid or cribriform architecture, necrosis, periductal inflammation or fibrosis, and associated microinvasive or invasive carcinoma. Mammographic lesions and histologic whole and invasive tumors increased in size from R3 to R5. Radiologic size of calcifications correlated with whole (but not invasive) tumor size, although it tended to underestimate it by several millimeters. Digital‐detected calcifications were more likely than screen‐film detected to be categorized as R3 and less likely R4 or R5, and there was no significant difference in positive predictive value between the two imaging techniques in any R‐category. In conclusion, histologic features of DCIS, in particular those associated with high grade, are associated with R5 radiology. There is no significant difference in positive predictive value for malignancy in any R‐category between digital and screen‐film mammography.     

Assessing the Relationship of Mammographic Breast Density and Proliferative Breast Disease

Increased breast density and a history of benign breast biopsy are both considered risk factors for developing breast cancer. Understanding the specifics of these risk factors and their relationship to each other can lead to a better understanding of a patient's propensity for breast cancer development and improved surveillance strategies. We included 245 women who underwent a benign breast biopsy without atypia between October 2011 and June 2013. Biopsies were performed for suspicious calcifications as well as masses and architectural distortion. Lesions biopsied were divided into two groups: calcified and noncalcified lesions. The patient's breast density was assessed on most recent mammogram and was classified using the American College of Radiology BI‐RADS density categories. Based on histologic diagnosis, each case was classified as proliferative or nonproliferative breast disease. The median age of the cohort (n = 245) was 55 years (range, 40–84 years). There were 162 (66%) postmenopausal women in the study. A core biopsy was performed for calcifications in 33.5% cases and for noncalcified lesions in 58% cases. In patients with dense breast tissue, an underlying proliferative histology was found significantly more frequently with calcifications (66.7%) as opposed to noncalcified lesions (35.9%) (RR = 2.3 (1.3–4.0); χ² = 8.7; p = 0.003). In nondense breast patients, there was no significant difference (RR = 1.1 (0.7–1.8); χ² = 0.1; p = 0.738). In the postmenopausal group, women with dense breasts had proliferative histology significantly more frequently than women with nondense breasts (55.3% versus 38.3%; p < 0.05), regardless of the underlying lesion type. Postmenopausal women with dense breasts who underwent a breast biopsy with benign histology had a significantly higher likelihood of having proliferative breast disease, regardless of underlying lesion type. Women with dense breasts also showed proliferative histology significantly more often for calcifications as opposed to noncalcified lesions.     

Excision alone for small size ductal carcinoma in situ of the breast

This study was performed to determine the risk of tumor recurrence after local excision alone in patients with small size (≤1 cm) ductal carcinoma in situ (DCIS) of the breast. We have treated 107 patients who had DCIS measuring ≤1 cm with margin widths of ≥0.3 cm with excision alone per institutional protocol. With a median follow-up time of 58 months, 4 patients developed ipsilateral breast tumor recurrence (IBTR). Two of the 4 recurrences were invasive, whereas 2 were DCIS. The 5-year rate of IBTR was 6.1%. The patients with resection margin of <1.0 cm had significantly higher rate of IBTR than the patients with resection margin of ≥1.0 cm (23.1% vs. 1.5% at 5-year, p < 0.01). In conclusion, radiotherapy is necessary in the patients with resection margin of <1.0 cm after excision alone because of the substantial risk of IBTR.     

Breast Lesion Excision Sample (BLES Biopsy) Combining Stereotactic Biopsy and Radiofrequency: Is it a Safe and Accurate Procedure in Case of BIRADS 4 and 5 Breast Lesions?

The aim of this study was to evaluate the accuracy and safety of breast lesion excision system (BLES) procedure with an Intact system device, under stereotactic and ultrasound guidance. Retrospective data review of 32 breast lesions BI‐RADS 4 or 5 underwent Intact procedures, from March 2010 to January 2012. Underestimation rates of atypical ductal hyperplasia (ADH) and ductal carcinoma in situ (DCIS) were evaluated; percentage of complete radiologic and histologic removal of the breast lesion were analyzed, as were the complications due to procedure. Complete radiologic excision of the target lesion was achieved in all masses and 58.6% of calcifications. Lesion size was less than 11 mm (mean size 5.6 mm). Underestimation of ADH and DCIS was 0% and 10%, respectively. Low complication rate was noted: only one hematoma. BLES appears an accurate and safe biopsy system for sampling nonpalpable breast lesions, especially in case of microcalcifications clusters categorized as BI‐RADS 4 and 5.     

Long‐Term Impact of Young Age at Diagnosis on Treatment Outcome and Patterns of Failure in Patients with Ductal Carcinoma In Situ Treated with Breast‐Conserving Therapy

We reviewed our institution's long‐term experience treating patients diagnosed with ductal carcinoma in situ (DCIS) of the breast with breast‐conserving therapy (BCT) to determine the impact of patient age on outcome over time. All DCIS cases receiving BCT between 1980 and 1993 were reviewed. Patient demographics (including age <45) and pathologic factors were analyzed for effect on outcomes including ipsilateral breast tumor recurrence (IBTR) and survival. BCT included limited surgery (excisional biopsy or lumpectomy) followed by radiotherapy to the whole breast (median whole‐breast dose: 50 Gy, median tumor bed dose: 60.4 Gy). One hundred and forty‐five cases were evaluated; the median follow‐up was 19.3 years. Twenty‐five patients developed an IBTR, for 5‐, 10‐, 15‐, and 20‐year actuarial rates of 9.9%, 12.2%, 13.7%, and 17.5%, respectively. The 10‐year ipsilateral rate of recurrence was 23.3% (<45 years) versus 9.1% (≥45 years) (p = 0.05). Younger patients more frequently developed invasive recurrences (20‐year actuarial rates: 20.4% versus 12.8%, p = 0.22) and true recurrences/marginal misses of the index lesion (23.3% versus 9.7%, p = 0.04) with lower rates of contralateral breast cancer (0.0% and 0.0% versus 12.0% and 20.5%, p = < 0.01, at 10 and 20 years, respectively). Young women under the age of 45 diagnosed with DCIS have a greater risk of local recurrence with different patterns of failure following BCT, which is most notable within 10 years of diagnosis.     

Cryoablation of Early-Stage Breast Cancer: Work-in-Progress Report of a Multi-Institutional Trial

Background With recent improvements in breast imaging, our ability to identify small breast tumors has markedly improved, prompting significant interest in the use of ablation without surgical excision to treat early-stage breast cancer. We conducted a multi-institutional pilot safety study of cryoablation in the treatment of primary breast carcinomas.Methods Twenty-nine patients with ultrasound-visible primary invasive breast cancer 2.0 cm were enrolled. Twenty-seven (93%) successfully underwent ultrasound-guided cryoablation with a tabletop argon gas-based cryoablation system with a double freeze/thaw cycle. Standard surgical resection was performed 1 to 4 weeks after cryoablation. Patients were monitored for complications, and pathology data were used to assess efficacy.Results Cryoablation was successfully performed in an office-based setting with only local anesthesia. There were no complications to the procedure or postprocedural pain requiring narcotic pain medications. Cryoablation successfully destroyed 100% of cancers <1.0 cm. For tumors between 1.0 and 1.5 cm, this success rate was achieved only in patients with invasive ductal carcinoma without a significant ductal carcinoma-in-situ (DCIS) component. For unselected tumors >1.5 cm, cryoablation was not reliable with this technique. Patients with noncalcified DCIS were the cause of most cryoablation failures.Conclusions Cryoablation is a safe and well-tolerated office-based procedure for the ablation of early-stage breast cancer. At this time, cryoablation should be limited to patients with invasive ductal carcinoma 1.5 cm and with <25% DCIS in the core biopsy. A multicenter phase II clinical trial is planned.     

Comparison of sperm morphology and nuclear sperm quality in SPATA16‐ and DPY19L2‐mutated globozoospermic patients

The aim of this study was to compare the sperm morphology and nuclear sperm quality (sperm aneuploidy and DNA fragmentation) in two groups of globozoospermic patients: DPY19L2‐mutated patients (n = 6) and SPATA16‐mutated patients (n = 2). Results for these two groups were also compared to a group of fertile men (n = 25). Fluorescence in situ hybridisation was performed for chromosomes X, Y and 18. Sperm DNA fragmentation was evaluated by TUNEL assay. Sanger sequencing was performed for mutations screening of DPY19L2 and SPATA16 genes. Sperm analysis revealed a classic phenotype of total globozoospermia in DPY19L2‐mutated group and a particular phenotype characterised by a predominance of double/multiple round‐headed (39.00 ± 4.2%) and multi‐tailed spermatozoa (26.00 ± 16.97%) in SPATA16‐mutated group. FISH analysis showed a significantly higher aneuploidy rate in globozoospermic patients compared to controls (p < 0.05), and a higher rate was observed in SPATA16‐mutated group compared to DPY19L2‐mutated group (p < 0.05). DNA fragmentation index was significantly higher in globozoospermic men compared to controls (p < 0.001), and there is no statistically significant difference between the two globozoospermic groups. We showed that SPATA16 defects could be associated with an abnormal meiosis leading to a particular morphological sperm defect of double/multiple round‐headed and multi‐flagella and a higher sperm aneuploidy rate than in case of DPY19L2‐defects in classic globozoospermia.     

Features of Occult Invasion in Biopsy‐Proven DCIS at Breast MRI

The purpose of this study is to determine if MRI BI‐RADS criteria or radiologist perception correlate with presence of invasive cancer after initial core biopsy of ductal carcinoma in situ (DCIS). Retrospective search spanning 2000–2007 identified all core‐biopsy diagnoses of pure DCIS that coincided with preoperative MRI. Two radiologists fellowship‐trained in breast imaging categorized lesions according to ACR MRI BI‐RADS lexicon and estimated likelihood of occult invasion. Semiquantitative signal enhancement ratio (SER) kinetic analysis was also performed. Results were compared with histopathology. 51 consecutive patients with primary core biopsy‐proven DCIS and concurrent MRI were identified. Of these, 13 patients (25%) had invasion at excision. Invasion correlated significantly with presence of a mass for both readers (p = 0.012 and 0.001), rapid initial enhancement for Reader 1 (p = 0.001), and washout kinetics for Reader 2 (p = 0.012). Significant correlation between washout and invasion was confirmed by SER (p = 0.006) when threshold percent enhancement was sufficiently high (130%), corresponding to rapidly enhancing portions of the lesion. Radiologist perception of occult invasion was strongly correlated with true presence of invasion. These results provide evidence that certain BI‐RADS MRI criteria, as well as radiologist perception, correlate with occult invasion after an initial core biopsy of DCIS.     

Accuracy of 11-Gauge Vacuum-Assisted Core Biopsy of Mammographic Breast Lesions

Background: Image-guided percutaneous biopsy has largely replaced excisional biopsy of mammographic lesions. Vacuum-assisted core biopsy has improved sampling of such lesions. The objectives of this study were to define the accuracy of the vacuum-assisted 11-gauge stereotactic core biopsy in sampling of atypical ductal hyperplasia (ADH) and ductal carcinoma in situ (DCIS) and to define histologic and mammographic features of target lesions, which predict sampling errors.Methods: Between October 1996 and March 2000, 1341 patients underwent stereotactic 11-gauge vacuum-assisted biopsy. Patients with ADH or DCIS were encouraged to undergo excisional biopsy.Results: Surgical excision of 37 ADH lesions revealed 5 missed DCIS lesions and 1 missed invasive cancer. Twelve of 91 DCIS lesions were upstaged to invasive cancer upon excision. The underestimation rate was highest in patients with DCIS when the target lesion for biopsy was a zone of calcifications >1.5 cm. No correlation existed between the histologic features of DCIS lesions diagnosed by stereotactic biopsy and the presence of infiltrating disease on excision.Conclusions: Vacuum-assisted 11-gauge stereotactic core biopsy understages 13.2% and 13.5% of DCIS and ADH lesions, respectively. In patients with DCIS found by stereotactic biopsy, a target zone of calcifications >1.5 cm is associated with a higher underestimation rate of infiltrating disease.     

Diagnostic and prognostic value of MRI T2 quantification in heart transplant patients

This study was designed retrospectively to assess the value of myocardial T2 to detect or predict ongoing acute heart rejection, in heart transplant patients, with a 1.5‐T MRI magnet. One hundred and ninety‐six myocardial T2 quantifications were performed on sixty consecutive heart transplant patients during routine follow‐up. T2 values were assessed (i) with regard to the results of concomitant biopsies and (ii) with a Cox multivariate model for the prediction of subsequent rejections, defined by a ≥ grade 2 at biopsy or highly suspected in the absence of biopsy (>10% drop in ejection fraction with subsequent reversibility under treatment). T2 values were proposed as main covariate, after logit transformation and adjustment for other confounding parameters such as delay since graft surgery and delay before biopsy. T2 values were strongly linked (i) to the presence of rejection on concomitant biopsy (P < 0.0001) and (ii) to the risk of subsequent rejection on Cox multivariate model (P < 0.001). T2 values above 60 ms were associated with relative risk of rejection higher than 2.0 and rapidly increasing. In conclusion, myocardial T2 yields a high diagnostic and prognostic value for graft rejection in heart transplant patients.     

Predictors of Surgical Margin Status in Breast-Conserving Surgery Within a Breast Screening Program

Background  Breast-conserving surgery (BCS) requires clear surgical margins to minimize local recurrence. We sought to identify groups of patients at higher risk of involved margins who might benefit from preoperative counselling and/or more generous excision at the first operation. Methods  We reviewed demographic, clinical, radiological and pathological records of all women diagnosed with ductal carcinoma in situ (DCIS) or invasive cancer (IC) through a population-based breast screening program in Melbourne, Australia between 1994 and 2005. Results  A total of 2,160 women were diagnosed with DCIS or IC. We excluded 199 who had mastectomy (TM) as initial procedure or had missing data. Three hundred and thirteen had a diagnostic biopsy. Of 1,648 women who had BCS after a preoperative diagnosis of DCIS or IC, 13.5% had involved margins, 16.6% had close (≤1 mm), and 69.8% clear (>1 mm) margins. Of the patients, 281/1,648 (17.1%) underwent re-excision, of whom 93 (33.1%) had residual disease identified. Mammographic microcalcifications (P < 0.0001), absence of a mammographic mass (P = 0.002), presence of DCIS (P < 0.0001), high tumour grade (P < 0.0001), large size (P < 0.0001), multifocal disease (P < 0.0001) and lobular histology (P = 0.005) were associated with involved margins. Microcalcifications (odds ratio [OR] 1.97), large size (OR 4.22) and multifocal disease (OR 2.85) were independently associated with involved margins. Residual disease was associated with involved margins (P < 0.0001), presence of DCIS (P = 0.05) and large tumour size (P = 0.01). Conclusion  After BCS, patients with mammographic microcalcifications, larger tumour size and multifocal tumours are more likely to have involved margins. Patients with involved margins, large tumour size and/or a DCIS component are more likely to have residual disease on re-excision.