Indolent renal involvement with BRAFV600E mutation: Erdheim-Chester, a rare disease with a wide spectrum of clinical manifestations.

We present the case of a patient with three-year indolent bilateral ureteral and perirenal masses. Clinical presentation, radiological context, and histopathological findings with detection of BRAF V600E mutation confirmed the diagnosis of Erdheim-Chester disease (ECD). A review of current knowledge regarding diagnosis, clinical assessment, management, and treatment of ECD is also presented.

Genomic Grade Index (GGI): feasibility in routine practice and impact on treatment decisions in early breast cancer.

PURPOSE: Genomic Grade Index (GGI) is a 97-gene signature that improves histologic grade (HG) classification in invasive breast carcinoma. In this prospective study we sought to evaluate the feasibility of performing GGI in routine clinical practice and its impact on treatment recommendations. METHODS: Patients with pT1pT2 or operable pT3, N0-3 invasive breast carcinoma were recruited from 8 centers in Belgium. Fresh surgical samples were sent at room temperature in the MapQuant Dx™ PathKit for centralized genomic analysis. Genomic profiles were determined using Affymetrix U133 Plus 2.0 and GGI calculated using the MapQuant Dx® protocol, which defines tumors as low or high Genomic Grade (GG-1 and GG-3 respectively). RESULTS: 180 pts were recruited and 155 were eligible. The MapQuant test was performed in 142 cases and GGI was obtained in 78% of cases (n=111). Reasons for failures were 15 samples with <30% of invasive tumor cells (11%), 15 with insufficient RNA quality (10%), and 1 failed hybridization (<1%). For tumors with an available representative sample (≥ 30% inv. tumor cells) (n=127), the success rate was 87.5%. GGI reclassified 69% of the 54 HG2 tumors as GG-1 (54%) or GG-3 (46%). Changes in treatment recommendations occurred mainly in the subset of HG2 tumors reclassified into GG-3, with increased use of chemotherapy in this subset. CONCLUSION: The use of GGI is feasible in routine clinical practice and impacts treatment decisions in early-stage breast cancer. TRIAL REGISTRATION: ClinicalTrials.gov NCT01916837, http://clinicaltrials.gov/ct2/show/NCT01916837.

Primary breast amyloidosis presenting solely as nonpalpable microcalcifications: a case report with review of the literature.

Primary breast amyloidosis is a rare disease and usually occurs as unilateral or bilateral palpable masses. Primary breast amyloidosis presenting solely as microcalcifications is extremely rare. The authors report a case of a 73-year-old woman with persistent suspicious microcalcifications without palpable mass. The diagnosis was established by the presence of an amorphous and eosinophilic material that was positive for Congo red and dichroic under polarized light. Paraffin immunohistochemistry revealed the presence of kappa light chains (AL-type amyloidosis). The amyloid deposits were associated with microcalcifications. A complete work up was performed to exclude other localisations or associated pathologies and was negative. The primary breast amyloidosis is discussed and a review of the literature is presented.

Distinction of isolated tumour cells and micrometastasis in lymph nodes of breast cancer patients according to the new Tumour Node Metastasis (TNM) definitions.

Isolated tumour cells and micrometastases represent two different staging categories and are often dealt with differently when identified in sentinel lymph nodes of breast cancer patients. The reproducibility of these categories was found to be suboptimal in several studies. The new edition of the TNM (Tumour Node Metastasis) is expected to improve the reproducibility of these categories. Fifty cases of possible low-volume nodal involvement were represented by one to four digital images and were analysed by members of the European Working Group for Breast Screening Pathology (EWGBSP). The kappa value for interobserver agreement of the pN (TNM) staging categories and of the isolated tumour cells category were 0.55 and 0.56 reflecting moderate reproducibility, and the kappa of the micrometastatic category (0.62) reflected substantial reproducibility. This is an improvement over the results gained on the basis of the previous edition of the TNM. Maximal adherence to the category definitions supplemented by explanatory texts in the staging manual should result in more homogeneous nodal staging of breast cancer.

Nodal-stage classification in invasive lobular breast carcinoma: influence of different interpretations of the pTNM classification.

PURPOSE Application of current nodal status classification is complicated in lobular breast carcinoma metastases. The aim of this study was to define the optimal interpretation of the pTNM classification in sentinel node (SN) -positive patients to select patients with limited or with a high risk of non-SN involvement. PATIENTS AND METHODS SN metastases of 392 patients with lobular breast carcinoma were reclassified according to interpretations of the European Working Group for Breast Screening Pathology (EWGBSP) and guidelines by Turner et al, and the predictive power for non-SN involvement was assessed. Results Reclassification according to definitions of EWGBSP and Turner et al resulted in different pN classification in 73 patients (19%). The rate of non-SN involvement in the 40 patients with isolated tumor cells according to Turner et al and with micrometastases according to EWGBSP was 20%, which is comparable to the established rate for micrometastases. The rate of non-SN involvement in the 29 patients with micrometastases according to Turner et al and with macrometastases according to EWGBSP was 48%, which is comparable to the established rate for macrometastases. Therefore, the EWGBSP method to classify SN tumor load better reflected the risk of non-SN involvement than the Turner et al system. CONCLUSION Compared with the guidelines by Turner et al, the EWGBSP definitions better reflect SN metastatic tumor load and allow better differentiation between patients with lobular breast carcinoma who have a limited or a high risk of non-SN metastases. Therefore, we suggest using the EWGBSP definitions in these patients to select high-risk patients who may benefit from additional local and/or systemic therapy.

Computed tomography-guided localization of breast lesions.

Magnetic resonance (MR) imaging and computed tomography (CT) of the breast allow the detection of breast lesions occult on physical examination, mammography and ultrasound. We report our experience to localize such lesions under CT-guidance. 30 patients underwent 30 CT-guided preoperative localizations of breast lesions using a sequential technique or a continuous imaging. All these lesions were initially detected by MR (n = 11) and/or CT (n = 19) and were occult for all the other techniques. In eight patients with a superficial and/or internal lesion, a skin location using a painting pen was performed. In the 23 other cases, the extremity of a hookwire was placed into the lesion or within 5 mm surrounding the target. All the lesions were localized with success under CT-guidance. The pathological analysis of the surgical specimens concluded in 11 breast cancers, four lesions of uncertain malignancy potential and 15 benign lesions. The size of these lesions ranged from 4 to 28 mm (mean: 10 mm). No significant complication related to the procedure was observed. Localization under CT guidance is a safe and effective technique to guide the surgical biopsy of breast lesions that can be seen solely on MR or CT.