Melanomas of female genital tract are rare tumors with poor prognosis. While BRAF-V600E is the most common pathogenic mutation seen in cutaneous sun-exposed melanomas, mucosal and anogenital melanomas usually lack BRAF mutations and instead they harbor KIT alterations. The American Joint Committee on Cancer staging guideline (AJCC eighth edition) recommends using cutaneous melanoma guidelines for vulvar melanoma staging and does not provide any recommendations for vaginal melanoma staging. The aim of this study is to investigate the mutational status of invasive melanomas arising from different anatomic sites in lower female genital tract (vulvar hair-bearing skin, glabrous skin, vagina and urethra) in a group of 37 patients. Tumors were analyzed using a DNA targeted next-generation sequencing panel covering the 21 most common genes and mutation hotspots in melanomas. The most common genetic alterations in invasive melanomas of lower female genital tract are KIT (32%), TP53 (22%), and NF1 (19%). Overall 66% (21/32) of cases showed a pathogenic alteration in at least one of the MAPK pathway genes. No statistical significance seen between different primary tumor sites and the frequency of the oncogenic mutations, nor were any significant differences found by mutation status. Only one case of urethral melanoma showed a BRAF non-V600E mutation (D594G). Our results suggest a similar molecular pathogenesis and overall survival in melanomas arising from lower female genital tract, irrespective of their exact location in the urogenital area. Future classifications of melanoma should consider grouping vulvar melanomas with mucosal rather than cutaneous melanomas.

Abstract. The aim of the present study was to investigate the role of immune regulatory molecules B7-H3 [also known as cluster of differentiation 276] and triggering receptor expressed on myeloid cell-like transcript-2 (TLT-2) in patients with oral squamous cell carcinoma (OSCC). Human OSCC samples were obtained from 76 patients (female, 32; male, 44; age range, 23-81 years; median age, 50.9 years) that underwent resection for OSCC at Peking University Shenzhen Hospital (Shenzhen, China) between 2007 and 2010. In addition, control oral mucosal samples were obtained from 76 healthy individuals (female, 36; male, 40; age range, 21-62 years; median age, 45.3 years) during wisdom tooth extraction. Protein and gene expression levels of B7-H3 and TLT-2 were determined by immunohistochemical analysis and reverse transcription-polymerase chain reaction (RT-PCR). In the healthy oral mucosa samples, B7-H3 expression was identified to be weak, while the expression of TLT-2 was only detected sporadically in the cell membrane and cytoplasm. By contrast, the two regulatory molecules were widely expressed in the aforementioned localizations in human OSCC specimens upon immunohistochemical examination. Furthermore, quantitative RT-PCR confirmed the presence of significantly higher B7-H3 and TLT-2 expression levels in OSCC specimens compared with the oral mucosa of healthy individuals. The significantly higher expression levels of B7-H3 and TLT-2 in human OSCC specimens may indicate an inhibitory role of these molecules in the antitumoral immune response. To investigate interactions between these two molecules and individual antitumoral immune response in OSCC patients, prospective clinical studies with an adequate sample size are required. IntroductionThe antitumoral immune response is a complex physiological process involving a variety of immune cells and molecules, including membrane molecules and dissolubility factors (1). As well as the engagement of T cell receptors, costimulation with immune regulatory molecules is required for the optimal activation of T cells (2). The B7 family, a group of costimulatory and coinhibitory proteins, encompasses critical ligands that interact with known and unknown receptors on the surface of T lymphocytes, regulating stimulation or inhibition (3). The aberrant expression of members of the B7 family is considered to be a mechanism by which human malignancies may escape host immune surveillance (3-5).B7-H3 [also known as cluster of differentiation (CD) 276], a member of the B7 family, is expressed on the surface of lymphoid cells, including dendritic cells, monocytes/macrophages and activated T cells. In addition, it is expressed on the surface of non-lymphoid tissue cells, including epithelial, anterior pituitary progenitor and muscle cells, as well as fibroblast-like synoviocytes (3,4). At present, the regulatory role of B7-H3 in tumor immunity remains controversial. A number of studies considered B7-H3 to be a costimulatory molecule promoting T-cell activation and proliferation and, thus,...

Abstract. Diffuse-type tenosynovial giant cell tumor (D-GCTS) is a rare benign lesion that not only frequently occurs in the fingers, but also along the tendon sheaths of the foot and ankle. The present study reports the cases of two middle-aged patients that were diagnosed with D-GCTS. The presentation of the D-GCTS lesions was extremely rare, as the tumors were located in the temporal fossa and threatened the skull base and external auditory canal. There were similarities and differences between the two patients in their clinical symptoms, disease progressions and invading sites. The patients' disease course occurred unnoticed with the absence of pain, was protracted and became infiltrative. However, the female patient was admitted to the hospital due to the occurrence of pain in the left temporal region, and the male patient presented at the doctor due to a painless left temporal mass and external auditory canal bleeding. Therefore, the operation area of the two patients was not the same. This type of illness should be considered in the differential diagnosis for masses occurring in the temporal region. Total tumor removal is the best treatment for D-GCTS, and the careful monitoring of recurrence can achieve a good clinical outcome subsequent to the surgical resection. IntroductionGiant cell tumor of the tendon sheath (GCTS) was initially described by Chassaignac in 1852 (1), and the lesion was defined as a malignant tumor at that time (2). Subsequently, Heurteux produced a detailed description of GCTS (3). It was found that the disease occurs more frequently in middle-aged women compared with men (4). According to the position (large or facet joint; intra-or extra-articular), characteristics (benign or malignant) and growth pattern (diffuse or localized) of the tumor, GCTS may be classified as one of four types: Localized-type tenosynovial giant cell tumor (L-GCTS); diffuse-type tenosynovial giant cell tumor (D-GCTS); pigmented villonodular synovitis (PVNS) (5,6); and malignant tenosynovial giant cell tumor (M-GCTS) (7,8).D-GCTS demonstrates invasive growth in the local region, which is considerably different from L-GCTS. D-GCTS usually develops in the synovium, and often invades the surrounding knee and soft tissue (2,9). Since it arises mainly from the soft tissue outside the joints, Weiss et al (10) regarded D-GCTS as a type of PVNS that appears in the soft tissue outside the joints, and also presents with intra-articular lesions (2,5). L-GCTS mainly occurs in the small joints, including the hand, foot and ankle. Image findings in previous studies reveal these soft tissue masses occur beside small joints (9,11). If the results of image analysis demonstrate that the lesions have invaded the joints, and if there is a concurrent weak signal of T1W and T2W on a magnetic resonance imaging (MRI) scan, D-GCTS should be considered as a probable diagnosis (12-15).GCTS usually occurs in individuals between the ages of 30 and 50 years (5). As a painless and slow-growing disease, it has been termed an innocent tumor ...

Glomus tumors are rare and benign neoplasms, which normally originate from peripheral soft tissue. To date, reported cases of glomus tumor occurring in genitourinary tract, particularly in the urethra, are exceedingly rare. The present study presented a rare case of glomus tumor of the anterior urethra in a 42 year-old male, his main complaints were a history of anterior urethra pain for 3 years, and a palpable and tender mass in the urethra for 2 weeks. Urethrocystoscopy examination and the resection of the urethral mass were performed. Pathological and immunohistochemical examination revealed that the mass was a benign glomus tumor. The patient remained in good condition by 6 month follow-up, and revealed no problems or recurrence following surgery. This is the first case, to the best of our knowledge, to present a glomus tumor occurring in a male's urethra and the present report provided a supplementary review for the previous cases and the literature.

Salivary duct carcinoma (SDC) is a rare and aggressive parotid malignancy that most commonly affects males in the fifth and sixth decades of life. Histopathology specimens obtained from SDC patients demonstrate a resemblance to ductal carcinoma of the breast. Therefore, to distinguish SDC from breast ductal carcinoma, several immunohistochemical markers exist that may enable surgeons to make an accurate diagnosis. In this study, the case of a 54-year-old male with salivary duct carcinoma of the right parotid gland is presented. The results of the present case study revealed that the SDC sample was positive for the expression of human epidermal growth factor 2 (Her-2), cytokeratin (CK) 8/CK 18, p63, high molecular weight CK and calponin, and negative for expression of the estrogen receptor and progesterone receptor. Based on the result, an ipsilateral selective neck dissection followed by adjuvant post-operative radiation therapy was suitable at the primary treatment stage. At one year of follow-up, the patient was alive and free of recurrence. In advanced cases of SDC, treatment with anti-HER-2 monoclonal antibodies, such as trastuzumab, is recommended.