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Objective We investigated patient experience with screening contrast-enhanced mammography (CEM) to determine whether a general population of women with dense breasts would accept CEM in a screening setting. Methods In this institutional review board–approved prospective study, patients with heterogeneous and extremely dense breasts on their mammogram were invited to undergo screening CEM and complete pre-CEM and post-CEM surveys. On the pre-CEM survey, patients were asked about their attitudes regarding supplemental screening in general. On the post-CEM survey, patients were asked about their experience undergoing screening CEM, including causes and severity of any discomfort and whether they would consider undergoing screening CEM again in the future or recommend it to a friend. Results One hundred sixty-three women were surveyed before and after screening CEM. Most patients, 97.5% (159/163), reported minimal or no unpleasantness associated with undergoing screening CEM. In addition, 91.4% (149/163) said they would probably or very likely undergo screening CEM in the future if it cost the same as a traditional screening mammogram, and 95.1% (155/163) said they would probably or very likely recommend screening CEM to a friend. Patients in this study, who were all willing to undergo CEM, more frequently reported a family history of breast cancer than a comparison cohort of women with dense breasts (58.2% vs 47.1%, P = .027). Conclusion Patients from a general population of women with dense breasts reported a positive experience undergoing screening CEM, suggesting screening CEM might be well received by this patient population, particularly if the cost was comparable with traditional screening mammography. [ABSTRACT FROM AUTHOR]

Objective: We sought to identify patient factors associated with patient-reported screening behaviors in women with dense breasts. Methods: An IRB-approved survey study of women with dense breasts presenting for annual screening mammography at an outpatient imaging center was previously conducted from March 2017 to February 2018. The survey included questions regarding mammographic screening frequency and recent participation in supplemental screening. These survey data were combined post hoc with clinical and demographic data and socioeconomic data imputed from census data. Logistic regression was used to identify patient factors associated with reported screening behaviors. Results: Surveys were completed by 508 women (median age, 59.0 years; range, 31.0-86.0 years) with dense breasts. Multivariable analysis demonstrated an independent association of undergoing mammographic screening annually with a history of discussing breast density with a doctor (adjusted odds ratio [AOR], 2.60; P = 0.019). Undergoing supplemental screening in the previous three years was independently associated with younger age (AOR, 1.59; P = 0.004), strong family history of breast cancer (AOR, 3.84; P = 0.027), higher perceived personal risk for breast cancer (AOR, 3.47; P = 0.004), and increased concern about radiation associated with screening examinations (AOR, 3.31; P = 0.006). Conclusion: Women with dense breasts who had discussed breast density with a doctor were more likely to report undergoing annual screening mammography, while younger women and women with a strong family history of breast cancer, higher perceived personal risk for breast cancer, or greater concern about radiation were more likely to report recently undergoing supplemental screening. [ABSTRACT FROM AUTHOR]

Objective: Some vendors have created algorithms that generate synthetic 2D (s2D) images from a digital breast tomosynthesis (DBT) dataset to reduce the radiation from obtaining a separate 2D digital mammography (DM). This study evaluated the visibility of amorphous calcifications on 2D DM versus s2D on screening mammography. Methods: This IRB-approved, retrospective, reader study included screening mammograms from 36 women who received screening DBT exams where both 2D DM and s2D images were obtained: 28 screening mammograms that were eventually given BI-RADS category 4 or 5 for amorphous calcifications and 8 BI-RADS category 1 or 2 screening exams. Two rounds of interpretation were conducted with a six-week washout period. Cases were randomized to display either the 2D DM or s2D images, which were then alternated in the second round. Four fellowship-trained breast radiologists determined whether a study merited recall for calcifications. If so, they rated calcification visibility on a scale of 1 to 5. McNemar chi-square tests were conducted to assess differences in recall rates and Wilcoxon signed rank tests were used to examine shifts in visibility. Results: There was no difference in detection rates of amorphous calcifications between 2D DM and s2D, which were 75.9% and 75.0%, respectively (P = 1.000). Collectively, amorphous calcifications were more visible on s2D than 2D DM, with mean visibility scores of 3.4 versus 3.0, respectively (P = 0.005). Conclusion: Synthetic 2D did not change identification of amorphous calcifications compared to 2D DM, and readers considered them more visible on average. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this study is to (1) assess the diagnostic yield of ultrasounds performed in the emergency department for suspected breast abscess and determine the rates of reimaging, discordance, and emergent intervention in a large, busy safety net hospital and (2) determine clinical factors significantly associated with abscess as a way to improve patient selection for emergent breast ultrasounds.Methods: A total of 581 consecutive breast ultrasounds performed in the emergency department for suspected abscess over 15 months were retrospectively reviewed for imaging, demographics, laboratory data, and physical exam findings. Breast abscess was confirmed by combining imaging, clinical, and laboratory data. Linear logistic regression analysis estimated the likelihood of abscess, and the cross-validated area under the receiver operating characteristic curve (AUC) evaluated diagnostic performance.Results: Final diagnoses included abscess (153/581, 26%), cancer (29/581, 5%), granulomatous mastitis (41/581, 7%), normal (120/581, 21%), and other/indeterminate (238/581, 41%). Factors associated with abscess included induration, fluctuance, erythema, drainage, smoking, diabetes, and Black race. Based on these factors, the AUC of the characteristics predictive of abscess was 0.77 (CI, 0.72-0.81). Six breast cancers were not diagnosed on ultrasound. 40% of ultrasounds (231/581) were considered incomplete/inadequate.Conclusion: 74% (428/581) of emergent breast ultrasounds in our population were negative for abscess, while 21% (6/29) of cancers were not diagnosed, and 40% (231/581) of exams were incomplete/inadequate. Patient selection for emergent ultrasounds can be improved, allowing patients with a low likelihood of abscess to be imaged in a more optimal setting. [ABSTRACT FROM AUTHOR]

Pediatric de novo acute myeloid leukemia (AML) is an aggressive malignancy with current therapy resulting in cure rates of only 60%. To better understand the cause of the marked heterogeneity in therapeutic response and to identify new prognostic markers and therapeutic targets a comprehensive list of the genetic mutations that underlie the pathogenesis of AML is needed. To approach this goal, we examined diagnostic leukemic samples from a cohort of 111 children with de novo AML using single-nucleotide-polymorphism microarrays and candidate gene resequencing. Our data demonstrate that, in contrast to pediatric acute lymphoblastic leukemia (ALL), de novo AML is characterized by a very low burden of genomic alterations, with a mean of only 2.38 somatic copy-number alterations per leukemia, and less than 1 nonsynonymous point mutation per leukemia in the 25 genes analyzed. Even more surprising was the observation that 34% of the leukemias lacked any identifiable copy-number alterations, and 28% of the leukemias with recurrent translocations lacked any identifiable sequence or numerical abnormalities. The only exception to the presence of few mutations was acute megakaryocytic leukemias, with the majority of these leukemias being characterized by a high number of copy-number alterations but rare point mutations. Despite the low overall number of lesions across the patient cohort, novel recurring regions of genetic alteration were identified that harbor known, and potential new cancer genes. These data reflect a remarkably low burden of genomic alterations within pediatric de novo AML, which is in stark contrast to most other human malignancies. [ABSTRACT FROM AUTHOR]

Background: Osteosarcoma cell lines and tumors have been shown to express epidermal growth factor receptor (EGFR) and harbor amplifications at the EGFR locus. In this study, the authors further analyzed the genomic features of EGFR in osteosarcoma tumors and investigated whether they correlate with phosphatase and tensin homolog (PTEN) expression and copy number status.Methods: EGFR and PTEN expression was assessed by immunohistochemistry (n = 28), and copy number alterations at the EGFR and PTEN loci were surveyed using Affymetrix (Santa Clara, Calif) 50K single nucleotide polymorphism (SNP) arrays (n = 31) and fluorescence in situ hybridization (FISH) (n = 27). The EGFR tyrosine kinase domain was sequenced to survey for activating mutations (n = 34). In addition, EGFRvIII expression was assessed using reverse transcriptase polymerase chain reaction (n = 24). Results were correlated with available clinical information on 59 patients, with a median age of 14.1 years (range, 5-23 years) and median follow-up of 4.4 years.Results: EGFR expression was detected in the majority of osteosarcoma tumors surveyed (23 of 28; 82%). SNP arrays revealed evidence of frequent copy number gains at 7p11.2 and losses at 10q23.21. A sizeable subset (16 of 27 cases; 59%) showed gains at the EGFR locus using FISH (amplification in 4 of 27 [15%] and balanced chromosome 7 polysomy in 12 of 27 [44%]), and 12 cases showed deletions at the PTEN locus (biallelic deletions in 4 of 27 [15%] and monoallelic deletion in 9 of 27 [33%]). No activating mutations in the EGFR tyrosine kinase domain, EGFRvIII expression, or association with clinical findings were detected.Conclusions: EGFR expression and genomic gains at the EGFR locus are prevalent in osteosarcoma tumors, which also commonly harbor deletions at the PTEN locus. [ABSTRACT FROM AUTHOR]

A correction to the article "Association of the Germline TP53 R337H Mutation With Breast Cancer in Southern Brazil," that was published in the April 26, 2011 issue is presented.

Background: The germline TP53-R337H mutation is strongly associated with pediatric adrenocortical tumors (ACT) in southern Brazil; it has low penetrance and limited tissue specificity in most families and therefore is not associated with Li-Fraumeni syndrome. However, other tumor types, mainly breast cancer, have been observed in carriers of several unrelated kindreds, raising the possibility that the R337H mutation may also contribute to breast tumorigenesis in a genetic background-specific context.Methods: We conducted a case-control study to determine the prevalence of the R337H mutation by sequencing TP53 exon 10 in 123 women with breast cancer and 223 age- and sex-matched control subjects from southern Brazil. Fisher's test was used to compare the prevalence of the R337H.Results: The R337H mutation was found in three patients but in none of the controls (p = 0.0442). Among the carriers, two had familial history of cancer meeting the Li-Fraumeni-like criteria. Remarkably, tumors in each of these three cases underwent loss of heterozygosity by eliminating the mutant TP53 allele rather than the wild-type allele. Polymorphisms were identified within the TP53 (R72P and Ins16) and MDM2 (SNP309) genes that may further diminish TP53 tumor suppressor activity.Conclusion: These results demonstrate that the R337H mutation can significantly increase the risk of breast cancer in carriers, which likely depends on additional cooperating genetic factors. These findings are also important for understanding how low-penetrant mutant TP53 alleles can differentially influence tumor susceptibility. [ABSTRACT FROM AUTHOR]