Introduction Ductal carcinoma in situ (DCIS) of the breast includes a heterogeneous group of preinvasive tumors with uncertain evolution. Definition of the molecular factors necessary for progression to invasive disease is crucial to determining which lesions are likely to become invasive. To obtain insight into the molecular basis of DCIS, we compared the gene expression pattern of cells from the following samples: non-neoplastic, pure DCIS, in situ component of lesions with co-existing invasive ductal carcinoma, and invasive ductal carcinoma.
Germline TP53 mutations predispose individuals to multiple cancers and are associated with Li-Fraumeni/Li-Fraumeni-Like Syndromes (LFS/LFL). The founder mutation TP53 p.R337H is detected in 0.3% of the general population in southern Brazil. This mutation is associated with an increased risk of childhood adrenal cortical carcinoma (ACC) but is also common in Brazilian LFS/LFL families. Breast Cancer (BC) is one of the most common cancers diagnosed in TP53 mutation carriers. We have assessed the prevalence of p.R337H in two groups: (1) 59 BC affected women with a familial history (FH) suggestive of hereditary cancer syndrome but no LFS/LFL features; (2) 815 BC affected women unselected for cancer FH, diagnosed with BC at or before age 45 or at age 55 or older. Among group 1 and group 2 patients, 2/59 (3.4%, CI95%: 0.4%–11.7%) and 70/815 (8.6%, CI95%: 6.8%–10.7%), respectively, were p.R337H carriers in the germline. The prevalence of p.R337H was higher in women diagnosed with BC at or before age 45 (12.1%, CI95%: 9.1%–15.8%) than at age 55 or older (5.1%, CI95%: 3.2%–7.7%), p<0.001). The Brazilian founder p.R337H haplotype was detected in all carriers analysed. These results suggest that inheritance of p.R337H may significantly contribute to the high incidence of BC in Brazil, in addition to its recently demonstrated impact on the risk of childhood ACC.
The purpose of this study was to evaluate the capacity of diffusion-weighted magnetic resonance imaging (DW-MRI) for early prediction of pathological response in breast cancer patients undergoing neoadjuvant chemotherapy (NCT). This prospective unicentric study evaluated 62 patients who underwent NCT. MRI was performed prior to the start of treatment (MR1), after the first NCT cycle (MR2), and upon completion of NCT (MR3). Pathological response was used as the gold-standard. Patients’ median age was 45.5 years and the median tumor size was 40 mm. Twenty-four (38.7%) tumors presented complete pathological response (pCR). The percent increase in apparent diffusion coefficient (ADC) value between MR1 and MR2 was higher in the pCR group (p < 0.001). When the minimum increase in ADC between MR1 and MR2 was set at 25%, sensitivity was 83%, specificity was 84%, positive predictive value was 77%, negative predictive value was 89%, and accuracy was 84% for an early prediction of pCR to NCT. Meanwhile, there were no significant changes in major tumor dimensions between MR1 and MR2. In conclusion, an increase in ADC after the first cycle of NCT correlates well with pCR after the chemotherapy in our cohort, precedes reduction in tumor size on conventional MRI, and may therefore be used as an early predictor of treatment response.
BackgroundBreast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a rare malignancy, recently recognized as a provisional entity by the World Health Organization. Although increasing data have been published on this entity in recent years, a great number of patients and health professionals remain unaware of this diagnosis.Case presentationWe herein report the case of a 56-year-old female with Li-FRAUMENI syndrome who presented with late right-sided recurrent breast swelling after prophylactic adenomastectomy with implant reconstruction. Imaging scans revealed an heterogeneous mass adjacent to the implant fibrous capsule. A biopsy of the lesion rendered the diagnosis of a BIA-ALCL.ConclusionsThis case presents similarities with previous reports, but also some particularities, which should be stressed in order to make the diagnosis the earliest possible. The most distinct feature is that this is the second report of BIA-ALCL arising in the setting of Li-FRAUMENI syndrome.
MRI features of both types of mucinous breast carcinomas are discussed, illustrated, and compared with pathologic findings and with other imaging methods, including mammography, ultrasound, and PET/CT.
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