Gene signatures in patients with early breast cancer and relapse despite pathologic complete response.

A substantial minority of early breast cancer (EBC) patients relapse despite their tumors achieving pathologic complete response (pCR) after neoadjuvant therapy. We compared gene expression (BC360; nCounter platform; NanoString) between primary tumors of patients with post-pCR relapse (N = 14) with: (i) matched recurrent tumors from same patient (intraindividual analysis); and (ii) primary tumors from matched controls with pCR and no relapse (N = 41; interindividual analysis). Intraindividual analysis showed lower estrogen receptor signaling signature expression in recurrent tumors versus primaries (logFC = -0.

Two progressed malignant phyllodes tumors of the breast harbor alterations in genes frequently involved in other advanced cancers.

Background: The genomic landscape of phyllodes tumors (PTs) of the breast is not well defined, especially in patients with advanced disease. To shed light on this topic, paired primary and progressed tumor samples from two patients with malignant PTs were subjected to next-generation sequencing (NGS) followed by functional analysis of genetic alterations using two prediction tools.

Methods: The DNA of both the primary tumor and distant metastases of Patient 1 and the primary and recurrent tumor of Patient 2 were subjected to molecular profiling.

Granulomatous Mastitis: A Therapeutic and Diagnostic Challenge.

Granulomatous mastitis (GM) is a rare benign inflammatory breast disease that affects mostly women of childbearing age with a history of breastfeeding. The etiopathogenesis is still unknown; however, inflammation as the result of a reaction to trauma, metabolic or hormonal processes, autoimmunity, and an infection with have all been implicated. Clinical findings are pain, mass, hyperemia, and inflammation.

The diagnostic utility of human papillomavirus-testing in combination with immunohistochemistry in advanced gynaecologic pelvic tumours: a new diagnostic approach.

Gynaecologic pelvic tumours comprise a range of histological entities that are highly variable with respect to their clinical behaviour. The distinction of these tumours can be extremely difficult. Accurate identification of the primary tumour site has significant impact on the treatment strategy and prognosis.

Adenoviral expression of a transforming growth factor-beta1 antisense mRNA is effective in preventing liver fibrosis in bile-duct ligated rats.

Background: Transforming growth factor-beta (TGF-beta) is a key mediator in establishing liver fibrosis. Therefore, TGF-beta as a causative agent may serve as a primary target for antifibrotic gene therapy approaches. We have previously shown that the adenoviral delivery of a transgene constitutively expressing a TGF-beta1 antisense mRNA blocks TGF-beta synthesis in culture-activated hepatic stellate cells and effectively abolishes ongoing fibrogenesis in vitro.

Malignant mediastinal germ cell tumor with pure hepatoid differentiation.

We describe a germ cell tumor of anterior mediastinal origin, with pure hepatoid differentiation and elevated serum AFP in a 41-year-old man. This is the first report of such a neoplasm analyzed by conventional stains and immunohistochemistry. Hepatocellular differentiation was proved by immunoreactivity with HepPar-1 and alpha-fetoproein (AFP), membranous expression of carcinoembryonic antigen (CEA-poly) in a canalicuar pattern, and focal expression of cytokeratin 19 in abortive ductular structures.