Unusual hyperpigmented patches,an undeveloped breast and a cataract in a female with incontinentia pigmenti

A 19‐year‐old female and her mother visited our department with a history of unusual reticular brown‐black patches on their trunks and limbs since infancy. Besides the obviously fulsome hyperpigmentation, the daughter also showed other unusual clinical manifestations such as generalized hypohidrosis, especially on the hyperpigmented patches, cicatricial alopecia, a cataract on her right eye, abnormal teeth and a right dysplastic breast. The mother had a median diastema between her maxillary central incisors, hypoplasia of the enamel, hypohidrosis and hyperpigmented patches on her left thoracic region. Analysis of the NEMO (NF‐κB essential modulator) gene in the patient and her mother revealed a deletion of exons 4–10. Their EDA and EDAR genes were normal.     

Clinicopathological and Ultrasonic Features of Triple-Negative Breast Cancers: A Comparison with Hormone Receptor-Positive/Human Epidermal Growth Factor Receptor-2-Negative Breast Cancers

The purpose of this study was to analyze the clinicopathological and ultrasound characteristics of triple-negative breast cancers (TNBCs) and compare these findings with those for hormone receptor-positive (HR-positive)/human epidermal growth factor receptor-2-negative (HER-2-negative) tumors. Seventy-five TNBCs and 135 HR-positive/HER-2-negative breast cancers were reviewed. Data from conventional ultrasound, Doppler vascularity and elastography were included in the analysis. TNBCs had a higher histologic grade and Ki-67 level. On ultrasound, TNBCs often appeared as microlobulated, markedly hypo-echoic masses with an abrupt interface boundary, posterior acoustic enhancement, absence of calcifications and more characteristics of surrounding tissue. Results from multivariate regression analysis revealed that margin, posterior acoustic features and surrounding tissue features of tumors were independent predictive factors in differentiating TNBCs from HR-positive/HER-2-negative tumors. Our results suggest that a thorough evaluation of sonographic findings might be useful in discriminating between TNBCs and HR-positive/HER-2-negative tumors, which may provide accurate evidence for clinical early diagnosis.     

Role of MRI in screening,diagnosis and management of breast cancer

Screening and early diagnosis has an important role in reducing the morbidity and mortality associated with breast cancer. Mammography has an established role and has been approved for routine screening. MRI is an emerging tool and has the highest sensitivity of current breast imaging techniques. Although low specificity and high cost of MRI restricted its use in routine screening, it has been increasingly used in the screening of high-risk individuals, diagnosing occult cases, staging and assessing the response to chemotherapy. MRI-guided techniques, including needle-localization biopsy and vacuum-assisted breast biopsy, have a special role in diagnosis and management. This article focuses on the role of MRI in diagnosis, screening and management of breast cancer, and reviews the current indications for breast MRI.     

Assessing the reproducibility of dynamic contrast enhanced magnetic resonance imaging in a murine model of breast cancer

Quantitative dynamic contrast enhanced magnetic resonance imaging estimates parameters related to tissue vascularity and volume fractions; additionally, semiquantitative parameters such as the initial area under the curve can be utilized to describe tissue behavior. The aim of this study was to establish the reproducibility of quantitative and semiquantitative analysis of dynamic contrast enhanced magnetic resonance imaging in a murine model of breast cancer. For each animal, a T₁‐weighted, gradient‐echo sequence was used to acquire two sets of dynamic contrast enhanced magnetic resonance imaging data separated by 5 h. Data were acquired at both a 0.05 mm³ (128², n = 12) and a 0.2 mm³ (64², n = 12) resolution, and analysis was performed using both the Tofts–Kety (to estimate K^trans and v_e) and extended Tofts–Kety (K^trans, v_e, and v_p) models. Reproducibility analysis was performed for both the center slice and the total tumor volume for all parameters. For the total volume analysis, the repeatability index for K^trans is 0.073 min^?1 in the standard model analysis and 0.075 min^?1 in the extended model analysis at the 128² acquisition. For the 64² acquisition, the values are 0.089 and 0.063 min^?1 for the standard and extended models, respectively. The repeatability index for initial area under the curve was 0.0039 and 0.0042 mM min for the 128² and 64² acquisitions, respectively. Magn Reson Med, 2013. © 2012 Wiley Periodicals, Inc.     

A randomised trial of nursing interventions supporting recovery of the postmastectomy patient

Aims and objectives. This ABC to recovery study evaluated the combined and separate components of preoperative education and the effectiveness of wearing the Papilla Gown. Background. Surgical removal of the breast may lead to activity limitation, self‐image issues, discomfort and later complication of lymphoedema. Design. This study used experimental and longitudinal design. Methods. One hundred and forty‐five women undergoing mastectomies for stages two and three breast cancer were randomised into four groups: education and Papilla Gown, education only, gown only and control. The outcomes of activity (A), body image (B), comfort (C), knowledge and lymphoedema were assessed at baseline and/or 1 week and 6 months using three measures. All 145 participants completed the study questionnaires at first two measures, and forty‐six of these participants completed the questionnaires at 6 months postoperatively. The setting for the study included two clinics and hospitals. To examine statistical significance at each time point after surgery, 2‐way anova s were performed on ABC, knowledge and tape measurement to see whether there were any statistically significant differences between the four groups. All reported p‐values are two sided. All statistical analyses were performed using sas 9.2 for Windows. Results. The mean age of the sample was 55 years. The study revealed that women who received the combined intervention demonstrated greater activity. Women who wore the gown only had a greater comfort level and decreased lymphoedema. Women that received preoperative education experienced increased knowledge. Conclusions. Outcomes suggest that the combined intervention (ABCs to recovery) can improve recovery following mastectomy. Relevance to clinical practice. The results will be used to further modify the intervention and to increase awareness of nurse practitioners and other healthcare professionals of the specific needs of postmastectomy patients.     

Docetaxel-Ifosfamide Combination in Patients with Advanced Breast Cancer Failing Prior Anthracycline- Based Regimens: Results of a Phase I-II Study

Abstract

The established clinical activity of docetaxel and ifosfamide as single agents in anthracycline pre-treated breast cancer, led us to conduct a phase I-II study to define the maximum tolerated dose (MTD), dose-limiting toxicities (DLTs), and clinical activity of the docetaxel+ifosfamide combination in this setting. Patients with histologically confirmed metastatic breast cancer, after failure on prior anthracycline-based chemotherapy, were treated at successive dose levels (DLs) in cohorts of 3-6 with escalated doses of docetaxel 70-100 mg/m² over 1 h on day 1 followed by ifosfamide 5-6 g/m² divided over days 1+2 (2.5-3.0 g/m²/day over 1 h), every 21 days. G-CSF was added once dose-limiting neutropenia was encountered at a certain DL and planned to be incorporated prophylactically in subsequent higher DLs. Between March 1997 and December 2002, 65 patients with a median age of 57 years (range, 32-72) and performance status (WHO) of 1 (range, 0-2) were treated at 5 DLs as follows; 21 in phase I DLs (DL1: 3, DL2: 6, DL3: 3, DL4: 6, and DL5: 3) and the remaining 44 were treated at DL4 (total of 50 patients at DL4), which was defined as the level for phase II testing. All patients were assessable for toxicity and 62 for response. DLT (with the addition of G-CSF after DL2) was reached at DL5 with 2/3 initial patients developing febrile neutropenia. Clinical response rates (RRs), on an intention-to-treat basis, in phase II were: 56%; (95% CI, 42.2- 69.7%); 4 CRs, 24 PRs, 10 SD and 12 PD. The median response duration was 7 mo (3-24 mo), median TTP 6.5 mo (0.1-26 mo), and median OS 13 mo (0.1-33 mo). Grade 3/4 toxicities included: neutropenia in 72% of patients, with 60% developing grade 4 neutropenia (≤7 days) and in 10% of these febrile neutropenia, while no grade 3/4 thrombocytopenia was observed. Other toxicities included peripheral neuropathy grade 2 only in 10%, grade 1/2 reversible CNS toxicity in 16%, no renal toxicity, grade 2 myalgias in 8%, grade 3 diarrhea in 8%, skin/nail toxicity in 14%, and grade 2 fluid retention in 2% of patients. One patient in the study treated at phase II died as a result of acute liver failure after the first cycle.

The present phase I-II study has determined the feasibility, defined the MTD and demonstrated the encouraging activity of the docetaxel-ifosfamide combination in the phase II part of the study. Therefore, future randomized phase III studies versus single-agent docetaxel or combinations of the latter with other active agents are warranted.