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Background Carcinosarcoma of the salivary glands is a rare neoplasm, and the minimally invasive form constitutes a subgroup with a more favorable prognosis. The cytomorphologic features of this neoplasm can be appreciated on fine-needle aspiration biopsy. Methods and Results We present a patient with a minimally invasive carcinosarcoma ex non-recurrent pleomorphic adenoma (Ca ex PA) who underwent initial fine-needle aspiration biopsy followed by surgical resection. The tumor was composed predominantly of a light microscopic pleomorphic high-grade sarcoma exhibiting partial myoepithelial immunohistochemical features, with a minor component of in situ and invasive salivary duct carcinoma (10%). A limited area with features of a hyalinized pleomorphic adenoma was identified. Conclusion This is the third case report of the cytological features of Ca ex PA of the salivary gland, with histologic correlation. It further illustrates the oncogenic relationship between epithelial and myoepithelial elements in the early stages of carcinosarcomatous transformation. © 2016 Wiley Periodicals, Inc. Head Neck, 2016

Low-grade fibromyxoid sarcoma (LGFMS) and sclerosing epithelioid fibrosarcoma (SEF) are rare tumors with distinct sets of morphological features, both characterized by MUC4 immunoreactivity. Tumors exhibiting features of both entities are considered hybrid LGFMS-SEF lesions. While the majority of LGFMS cases are characterized by FUS-CREB3L2 gene fusions, most cases of pure SEF show EWSR1 gene rearrangements. In the largest study of hybrid LGFMS-SEF tumors to date, all cases exhibited FUS rearrangements, a similar genetic profile to LGFMS. We herein describe the clinicopathological features and genetic findings of a case of primary renal hybrid LGFMS-SEF occurring in a 10-year-old child, with disseminated metastases. Fusion gene detection using a next-generation sequencing-based anchored multiplex PCR technique (Archer FusionPlex Sarcoma Panel) was performed on both the primary renal tumor that showed the morphology of a LGFMS, and a cervical metastasis that showed the morphology of SEF. An EWSR1-CREB3L1 gene fusion occurring between exon 11 of EWSR1 and exon 6 of CREB3L1 was present in both the LGFMS and SEF components. This unusual case provides evidence that a subset of hybrid LGFMS-SEF harbor EWSR1-CREB3L1 gene fusions. In this case, these features were associated with an aggressive clinical course, with disease-associated mortality occurring within 12 months of diagnosis.

Gastric cancer diagnostics has traditionally been histomorphological and primarily the domain of surgical pathologists. Although there is an increasing usage of molecular and genomic techniques for clinical diagnostics, there is an emerging field of personalised drug sensitivity testing. In this review, we describe the various personalised drug sensitivity testing platforms and discuss the challenges facing clinical adoption of these assays for gastric cancer.

Intercalated duct lesions (IDL) of the salivary glands are recently described, and encompass both hyperplasia and benign neoplasms that remain incompletely understood. IDLs have been linked to various benign and low-grade malignant salivary gland neoplasms. We herein present a case of a 77 year old woman with an IDL of the parotid composed of both a hyperplastic and an adenomatous component and report, for the first time, the fine needle aspiration findings of such a lesion. This case illustrates the morphologic spectrum of an IDL, as well as challenges in rendering an accurate cytological and histologic diagnosis. The potential diagnostic pitfalls presented by the hybrid pattern of this lesion are also discussed.

Aims Phosphaturic mesenchymal tumour (PMT) is a rare, recently described neoplastic entity. It is characterized by distinct histological features, which often occur together with oncogenic osteomalacia. Recently, a novel FN1–FGFR1 gene fusion has been described in a subset of PMTs. The aim of this study is to characterise the clinicopathological features of two PMTs, with FGFR1 immunohistochemical and cytogenetic analyses. Methods and results We present two contrasting cases of PMT, one occurring in the sinonasal region, and the other occurring in bone (proximal femur). In the former, local effects, including epistaxis and anosmia, dominated the clinical presentation, whereas the latter case presented with refractory bone pain, muscle weakness, and occult osteomalacia, the cause of which was only identified after 2 years. Both tumours showed characteristic histological features of PMT, including a monomorphic proliferation of round to ovoid cells, osteoclast-like multinucleated giant cells, and areas of ‘smudgy’ basophilic calcifications. Chromogenic in-situ hybridization showed fibroblast growth factor FGF-23 expression by the sinonasal tumour. By using immunohistochemistry, we also demonstrated, for the first time, FGF receptor 1 (FGFR1) protein overexpression in this tumour, for which FN1–FGFR1 gene fusion was not detected by fluorescence in-situ hybridization. Conclusions Our findings indicate that up-regulation of FGFR1 in phosphaturic mesenchymal tumours can occur via mechanisms other than FN1–FGFR1 fusion, raising the possibility of FGFR1 overexpression being a potential common pathway with pathophysiological and therapeutic implications.