Chiara Trentin

Predictors of invasive breast cancer and lymph node involvement in ductal carcinoma in situ initially diagnosed by vacuum-assisted breast biopsy: Experience of 733 cases

OBJECTIVEnTo predict presence of invasive component and nodal involvement in women diagnosed preoperatively with ductal carcinoma in situ (DCIS) by vacuum-assisted breast biopsy (VABB).nnnMATERIALS AND METHODSnWe retrospectively analyzed 733 patients with preoperatively diagnosed DCIS, investigating the association of clinical-radiological variables with invasive component and nodal involvement.nnnRESULTSnMammographic size >20xa0mm and residual lesion on post-VABB mammogram were related to invasive component (both pxa0<xa00.0001) and nodal involvement (pxa0=xa00.001, pxa0=xa00.03). Age <40 years was associated with presence of invasive component (pxa0=xa00.003). By multivariate analysis residual disease was associated with invasive component, and mammographic tumor size >20xa0mm with nodal involvement, both highly significant.nnnCONCLUSIONSnOlder age, lesion <20xa0mm, and no residual lesion predict absence of invasion and no nodal involvement in VABB-diagnosed DCIS. However it would be imprudent to routinely forego sentinel node biopsy in such patients as non-negligible proportions of them have invasive disease.

E-cadherin germline mutation carriers: clinical management and genetic implications

Hereditary diffuse gastric cancer is an autosomic dominant syndrome associated with E-cadherin protein (CDH1) gene germline mutations. Clinical criteria for genetic screening were revised in 2010 by the International Gastric Cancer Linkage Consortium at the Cambridge meeting. About 40xa0% of families fulfilling clinical criteria for this inherited disease present deleterious CDH1 germline mutations. Lobular breast cancer is a neoplastic condition associated with hereditary diffuse gastric cancer syndrome. E-cadherin constitutional mutations have been described in both settings, in gastric and breast cancers. The management of CDH1 asymptomatic mutation carriers requires a multidisciplinary approach; the only life-saving procedure is the prophylactic total gastrectomy after thorough genetic counselling. Several prophylactic gastrectomies have been performed to date; conversely, no prophylactic mastectomies have been described in CDH1 mutant carriers. However, the recent discovery of novel germline alterations in pedigree clustering only for lobular breast cancer opens up a new debate in the management of these individuals. In this critical review, we describe the clinical management of CDH1 germline mutant carriers providing specific recommendations for genetic counselling, clinical criteria, surveillance and/ or prophylactic surgery.

CDH1 germline mutations and hereditary lobular breast cancer

Hereditary diffuse gastric cancer is an autosomal dominant inherited disease associated of CDH1 germline mutations (that encodes for the E-cadherin protein), and lobular breast cancer is the second most frequent type of neoplasia. Recently, novel E-cadherin constitutional alterations have been identified in pedigree clustering only for lobular breast carcinoma without evidence of diffuse gastric tumors and in absence of BRCA1/2 mutations. This first evidence opens novel questions about the inherited correlation between diffuse gastric and lobular breast cancers. In this brief review we revise the literature data about the CDH1 mutation frequency affecting exclusively lobular breast cancer, providing clinical recommendation for asymptomatic mutation carriers.

Ultrasound-guided vacuum assisted breast biopsy in the assessment of C3 breast lesions by ultrasound-guided fine needle aspiration cytology: results and costs in comparison with surgery.

Breast lesions defined C3 at ultrasound (US)-guided fine needle aspiration cytology (FNAC) are probably benign, but exhibit atypias. We evaluate the results of US-guided vacuum assisted breast biopsy (VABB) of these lesions. Patients diagnosed C3 by US-FNAC, submitted to US-VABB and with a minimum follow-up of 36 months or surgery were enrolled. Cost outcome of this diagnostic protocol was evaluated. We evaluated 138 patients with non-palpable C3 lesions. In 2/138 (1.4%) cases VABB results were inadequate. VABB diagnosed: 17/138 (12.3%) malignant and 119/138 (86.2%) benign lesions. In 28/138 cases (20.3%) surgery retrieved 18/28 (64.3%) malignant lesions. One false negative result of VABB was observed. Sensitivity and specificity of VABB resulted 94.4% and 100%. Our diagnostic algorithm estimated a 45% mean decrease of costs using VABB when compared with surgical biopsy of all C3 lesions.

A rare cause of mastalgia: Dercum's disease (adiposis dolorosa).

Among the symptoms reported by patients undergoing breast imaging, pain is one of the most common. Mastalgia is generally classified as cyclic, noncyclic, or extramammary. A rare cause of breast pain is Dercums disease, or adiposis dolorosa, a condition characterized by multiple, often painful subcutaneous lipomas. Painful breast lipomas have not been described in the literature so far. The diagnosis is made by clinical means supported by diagnostic imaging. We report the case of a 58-year-old postmenopausal woman affected by Dercums disease in the breast. Ultrasound examination showed multiple oval, well-defined, hyperechoic lesions suggestive of breast lipomas. No significant features were detected by mammography.

Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect

Recent studies have reported germline CDH1 mutations in cases of lobular breast cancer (LBC) not associated with the classical hereditary diffuse gastric cancer syndrome. A multidisciplinary workgroup discussed genetic susceptibility, pathophysiology and clinical management of hereditary LBC (HLBC). The team has established the clinical criteria for CDH1 screening and results’ interpretation, and created consensus guidelines regarding genetic counselling, breast surveillance and imaging techniques, clinicopathological findings, psychological and decisional support, as well as prophylactic surgery and plastic reconstruction. Based on a review of current evidence for the identification of HLBC cases/families, CDH1 genetic testing is recommended in patients fulfilling the following criteria: (A) bilateral LBC with or without family history of LBC, with age at onset <50 years, and (B) unilateral LBC with family history of LBC, with age at onset <45 years. In CDH1 asymptomatic mutant carriers, breast surveillance with clinical examination, yearly mammography, contrast-enhanced breast MRI and breast ultrasonography (US) with 6-month interval between the US and the MRI should be implemented as a first approach. In selected cases with personal history, family history of LBC and CDH1 mutations, prophylactic mastectomy could be discussed with an integrative group of clinical experts. Psychodecisional support also plays a pivotal role in the management of individuals with or without CDH1 germline alterations. Ultimately, the definition of a specific protocol for CDH1 genetic screening and ongoing coordinated management of patients with HLBC is crucial for the effective surveillance and early detection of LBC.

Surgical resection margins after breast-conserving surgery: Senonetwork recommendations.

This paper reports findings of the “Focus on Controversial Areas” Working Party of the Italian Senonetwork, which was set up to improve the care of breast cancer patients. After reviewing articles in English on the MEDLINE system on breast conserving surgery for invasive carcinoma, the Working Party presents their recommendations for identifying risk factors for positive margins, suggests how to manage them so as to achieve the highest possible percentage of negative margins, and proposes standards for investigating resection margins and therapeutic approaches according to margin status. When margins are positive, approaches include re-excision, mastectomy, or, as second-line treatment, radiotherapy with a high boost dose. When margins are negative, boost administration and its dose depend on the risk of local recurrence, which is linked to biopathological tumor features and surgical margin width. Although margin status does not affect the choice of systemic therapy, it may delay the start of chemotherapy when further surgery is required.

Fibromatosis of the breast mimicking cancer: A case report

Breast fibromatosis, also referred to as desmoid tumor or aggressive fibromatosis, is a very rare, locally aggressive disease that does not metastasize. Bilateral lesions are extremely rare and are found in only 4% of patients with breast fibromatosis. Tumor recurrence following surgery occurs in 18%-29% of patients, most often within the first 2 years after surgery. In this report, we discuss a case of breast fibromatosis, mimicking a breast carcinoma both clinically and radiologically, that presented clinically with dimpling of the skin of the left breast in a 31-year-old woman. The patient relapsed a few months after surgery, with a multicentric and bilateral disease.

Granular cell tumor of the breast: Molecular pathology and clinical management

Granular cell tumor is a rare condition that occasionally affects breast parenchyma: approximately, 5%‐15% of all granular cell tumors represent 1:1000 of breast tumors. In this study, we reported a consecutive series of 12 patients with primary granular cell tumor of the breast observed at our institute, focusing attention on preoperative management, surgical approach, and long‐term follow‐up. Eight cases (8/12; 66.78%) presented with left‐breast tumors; in the majority of patients (11/12; 91.7%), the lesion was identified in one of the upper quadrants. Specifically, upper intern quadrants (10 cases) were more affected. Surgical excision was performed in all patients. Mean diameter at pathologic section was 11.4 mm (range: 5‐22). Tumor relapse was reported only in one case (8.3%). Mean follow‐up was 98.1 months (range: 1‐192). We proposed a model to explain the molecular mechanism of granular cell tumorigenesis associating to the high level of S100 protein. Management of primary granular cell tumor of the breast requires a correct initial diagnosis using breast imaging associated with core biopsy. Surgical procedure with wide resection or quadrantectomy requires a careful evaluation of breast margins.

Integrated Breast Biopsy for Best Radiological Diagnosis of Breast Cancer

Breast biopsy (BB) is a useful tool for breast cancer diagnosis. It allows characterization of any breast lesion that is undefined at imaging.