Renal clear cell carcinoma metastasis to salivary glands - a series of 9 cases: clinico-pathological study.

Renal clear cell carcinoma metastasis to salivary glands - a series of 9 cases: clinico-pathological study.

Pol J Pathol. 2016;67(1):39-45

Authors: Majewska H, Skálová A, Radecka K, Stodulski D, Hyrcza M, Stankiewicz C, Biernat W

Abstract
Metastatic tumors involving salivary glands arising from the non-head and neck area are very rare. Renal cell carcinoma (RCC) is known for its high propensity for metastasis to unusual localizations. RCC metastasis to the maxillofacial area is an uncommon event (16%), but metastasis to salivary glands is extremely rare. We report a series of 9 such cases retrieved from two institutions. The group included 6 females and 3 males. The age at diagnosis ranged from 60 to 97 years (mean 72.6 years). The tumors involved the parotid gland in 7 cases, and the submandibular and small salivary gland of the oral cavity in 1 case each. The size of tumors ranged from 0.4 to 5 cm. Total parotidectomy with selective neck dissection was performed in 4 cases, while superficial parotidectomy was performed in 1 case and simple resection in 3 cases. Histologically, all the tumors were clear cell renal cell carcinomas, and therefore the differential diagnosis mainly included clear cell variants of salivary gland carcinomas. The parotid gland was the initial manifestation of renal malignancy in 4 of the cases, while in the remaining 5 cases a history of RCC had been known. The salivary gland involvement developed from 11 months to 13 years after the time of diagnosis of the primary tumor. In 2 cases it was the first site of dissemination. Pathologists need to maintain a high index of suspicion for the possibility of metastasis when confronted with oncocytic or clear cell neoplasms developing in salivary glands. RCC, although rare, should be included in this differential diagnosis.

PMID: 27179273 [PubMed - as supplied by publisher]

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Soft tissue sarcomas in skin: presentations and management.

Soft tissue sarcomas in skin: presentations and management.

Semin Oncol. 2016 Jun;43(3):413-8

Authors: Patt JC, Haines N

Abstract
Soft tissue sarcomas are a rare but heterogeneous family of malignant tumors that are predominantly found deep to the integumentary layer. Only a small number of these primary mesenchymal tumors actually originate from the dermal layers. A systematic approach to the evaluation and workup of these neoplasms can prevent inappropriate management. After staging evaluation, most of these tumors are primarily managed with en-bloc surgical resection. Other adjuvant therapies routinely employed include chemotherapy and radiation therapy. Proper treatment typically involves participation of a multidisciplinary care team for optimal outcome. General principles and treatment strategies will be discussed along with a review of the more common cutaneous manifestations of sarcoma.

PMID: 27178697 [PubMed - in process]

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Cutaneous manifestations of genitourinary malignancy.

Cutaneous manifestations of genitourinary malignancy.

Semin Oncol. 2016 Jun;43(3):347-52

Authors: Raghavan D

Abstract
Genitourinary cancers are associated with a range of cutaneous syndromes, which can reflect direct metastatic spread, non-metastatic manifestations of malignancy or the consequences of treatment. More than 220,000 new cases of prostate cancer occur each year in the United States, and thus the associations with cutaneous involvement are quite well documented-rare metastatic spread, vasculitic and hemorrhagic syndromes. Cancers of the bladder and kidney may be associated with direct cutaneous metastases, vasculitic syndromes, hereditary leiomyomatosis, and other familial syndromes. Testicular cancer occasionally metastasizes to the skin but more commonly is associated with the dysplastic nevus (multiple atypical nevus) syndrome. A structured approach to history-taking, examination, and investigation is essential for optimal management, especially when these syndromes precede the diagnosis of a known malignancy. A brief review of the more common iatrogenic cutaneous complications is provided, and includes Raynaud's phenomenon, purpura, rash, hand-foot syndrome, the consequences of marrow failure, and bleomycin-induced pigmentation.

PMID: 27178687 [PubMed - in process]

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Urachal Carcinoma Shares Genomic Alterations with Colorectal Carcinoma and May Respond to Epidermal Growth Factor Inhibition.

Urachal Carcinoma Shares Genomic Alterations with Colorectal Carcinoma and May Respond to Epidermal Growth Factor Inhibition.

Eur Urol. 2016 May 10;

Authors: Collazo-Lorduy A, Castillo-Martin M, Wang L, Patel V, Iyer G, Jordan E, Al-Ahmadie H, Leonard I, Oh WK, Zhu J, McBride RB, Cordon-Cardo C, Solit DB, Sfakianos JP, Galsky MD

Abstract
Metastatic urachal carcinoma is a rare, understudied, and aggressive malignancy with limited treatment options. Histologically, urachal carcinomas resemble enteric adenocarcinomas and anecdotally respond to systemic therapies utilized in colorectal cancer. Targeted exome sequencing of archival primary tumor tissue from a patient with metastatic urachal cancer revealed EGFR amplification and wild-type KRAS. The patient was treated with cetuximab, a monoclonal antibody directed against EGFR, as a single agent, and achieved a response lasting more than 8 mo. Subsequent whole-exome sequencing revealed no additional alterations likely to be associated with cetuximab sensitivity. Formalin-fixed, paraffin-embedded tumor specimens from nine additional urachal cancers were subjected to targeted exome sequencing. Mitogen-activated protein kinase (MAPK) pathway mutations were found in four of the nine samples, but no EGFR amplification was detected. Importantly, APC mutations were detected in two of the nine patients. To our knowledge, this is the first report of a response to single-agent cetuximab in a patient with metastatic urachal cancer and of molecular analysis to probe the basis for sensitivity. On the basis of these findings and the histologic, and now genomic, similarities with colorectal cancer, monoclonal antibodies directed at EGFR could be used in the treatment of metastatic urachal cancer.
PATIENT SUMMARY: Urachal cancers are morphologically and genomically similar to colon adenocarcinomas and may respond to drugs targeting the epidermal growth factor receptor.

PMID: 27178450 [PubMed - as supplied by publisher]

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Cytopathologic characteristics of SMARCB1 (INI-1) deficient sinonasal carcinoma: A potential diagnostic pitfall.

Cytopathologic characteristics of SMARCB1 (INI-1) deficient sinonasal carcinoma: A potential diagnostic pitfall.

Diagn Cytopathol. 2016 May 14;

Authors: Allison DB, Bishop JA, Ali SZ

Abstract
Tumors of the head and neck are extremely diverse and a subset are poorly differentiated and difficult to classify. Recently, a new entity has been described with rhabdoid and/or plasmacytoid cytologic features and a characteristic genetic signature-inactivation of the SMARCB1 (INI-1) tumor suppressor gene. To date, only 16 cases of SMARCB1 (INI-1) deficient sinonasal carcinoma have been described, and there are currently no reports of the cytopathologic features by fine needle aspiration (FNA) cytology. A case of a 77-year-old man who presented with a posterior ethmoid sinus lesion with invasion into the skull base and bone was reported. FNA cytology of a right retropharyngeal lymph node revealed relatively monomorphic, loosely cohesive clusters of plasmacytoid cells with occasional nucleoli, rare intranuclear cytoplasmic inclusions, and mitotic figures in a background of necrosis and absence of overt squamous or glandular differentiation. A diagnosis of metastatic myoepithelial carcinoma was made; however, retrospectively, the surgical excision showed loss of the SMARCB1 (INI-1) tumor suppressor gene by immunohistochemistry. In summary, the cytomorphologic features of SMARCB1 (INI-1) deficient sinonasal carcinoma are relatively nonspecific and overlap with other regional tumors, including myoepithelial neoplasms. As a result, this entity should be considered in the differential diagnosis for a plasmacytoid tumor arising in the sinonasal tract by FNA cytology. Diagn. Cytopathol. 2016. © 2016 Wiley Periodicals, Inc.

PMID: 27177850 [PubMed - as supplied by publisher]

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Human tear proteomics and peptidomics in ophthalmology: Toward the translation of proteomic biomarkers into clinical practice

Publication date: Available online 13 May 2016
Source:Journal of Proteomics
Author(s): Mikel Azkargorta, Javier Soria, Arantxa Acera, Ibon Iloro, Tatiana Suarez, Felix Elortza
Tears are a complex biological mixture containing electrolytes, metabolites, lipids, mucins, some small organic molecules, and proteins. The film has various roles in the lubrication, protection from the external environment, and nutrition of the cornea; it is also involved in the modulation of the optical properties of the eye.Tear composition reflects the physiological condition of the underlying tissues. Therefore, the tear fluid is useful in the evaluation of health and disease statesand it is a valuable source of biomarkers for objective analysis of ocular and systemic diseases.The relatively high protein concentration of this fluid and the ease of noninvasive sample collection make it suitable for diagnostic and prognostic purposes. Efforts in proteomics research have positively affected to the field of ophthalmology, and the knowledge on the tear proteome has expanded considerably in the last few years. Nevertheless, despite a large amount of available data and the many biomarkers proposed for several eye and systemic diseases, the extent of translation to well-characterized and clinically useful tools has been largely insufficient. As for most of other biofluids, the road from discovery to clinical application is still long and full of pitfalls.In this review, we discuss the proteomic approaches used in the characterization of tear protein and peptide content, recapitulating the main studies and the progress done. We also present a brief summary of the path from discovery to clinical application of tear protein markers, with some representative examples of translation from the bench to the bedside.SignificanceIn this review we cover the most relevant proteomic approaches used in the characterization of tear proteome, and for the first time we also focus in advances performed in the nowadays emerging peptide content characterization. In this context, we recapitulate on the main studies and the progresses done in this field. We also present a concise overview of the course that may be happen from discovery to clinical application for tear protein markers. Finally we include some representative examples of translation from the bench to the bedside.



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Medicine by Alexandros G.Sfakianakis,Anapafseos 5 Agios Nikolaos,Crete 72100,Greece,tel :00302841026182 & 00306932607174

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White-collar sign as a predictor of outcome after endovascular treatment for cerebral aneurysms

Journal of Neurosurgery, Ahead of Print.
OBJECTIVE The white-collar sign (WCS) is known as a thick neointimal tissue formation at the aneurysm neck after endovascular coil embolization of cerebral aneurysms, which may prevent aneurysm recanalization. The purpose of this study was to evaluate factors involved in the appearance of WCS and to identify radiological and clinical outcomes of treated aneurysms with WCS. METHODS The study included 140 patients with 149 aneurysms in which it was possible to confirm the aneurysm neck between the aneurysm sac and parent artery by using conventional angiography. The WCS was defined as a radiolucent band at the aneurysm neck on the angiogram at 6 months after initial embolization. The radiological outcome was evaluated using MR angiography. RESULTS In 23 of 149 aneurysms (15.4%), a WCS appeared. The WCS-positive group had a significantly smaller neck size (3.3 ± 0.8 mm vs 4.2 ± 1.1 mm, p < 0.001) and smaller aneurysm size (4.3 ± 0.9 mm vs 6.0 ± 2.1 mm, p < 0.001) than the WCS-negative group. Multivariate analysis revealed that WCS appearance was associated with small neck size (OR 0.376, 95% CI 0.179–0.787; p = 0.009). In 106 of 149 aneurysms, the rate of complete occlusion was significantly higher in the WCS-positive group (18/18, 100%) than in the WCS-negative group (n = 54/88, 61.4%; p = 0.001) in the mean follow-up period of 31.0 ± 9.7 months (range 5–52 months). Neither major recanalization nor rupture of the aneurysm occurred in the WCS-positive group. CONCLUSIONS Appearance of the WCS was associated with complete occlusion and good clinical outcome after endovascular coil embolization. The WCS would help to determine the prognosis of cerebral aneurysms after endovascular treatment.

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