Primary Classic Penile Kaposi's Sarcoma in a Middle Age Circumcised HIV-Negative Patient: Presentation of an Unusual Case.

Kaposi's sarcoma should be considered in the differential diagnosis in young patients with penile lesions and no risk factors. A 37-year-old heterosexual man with no other medical history applied presented with a non-itchy and painless penile lesion, for three months. The HIV 1-2 serology was negative via ELISA test. Histopathological analysis of the lesion revealed a tumor composed of atypical spindle cells, below a partially ulcerated surface. There was also an abundance of plasma cells admixed within the neoplastic cells. The patient was diagnosed as HIV-negative, HHV-8 positive Kaposi sarcoma. Although penile Kaposi sarcoma is extremely rare, classical Kaposi sarcoma should be considered in the differential diagnosis of penile lesions.

A puzzling Presentation of Alopecia Areata: Sudden-Onset Whitening of Hair and its Spontaneous Resolution.

A 39-year-old male presented with the complaint of sudden onset and progressive whitening of the scalp hair. The patient documented the situation by regularly taking selfies starting from the moment he noticed that his hair was starting to turn white. A diagnosis of alopecia areata involving pigmented hair was made with clinical, dermoscopic, histopathological, and immunofluorescence findings. Total regrowth of the pigmented hair was observed at 6 months follow-up without any systemic treatment.

Diagnosis and management of vulvar Darier disease: A case report.

Darier disease is an autosomal dominant disorder with hyperkeratotic papules affecting primarily seborrheic areas of the upper chest, back, forehead, scalp, nasolabial folds, ears, and, less frequently, the oral mucosa. A typical eruption consists of keratotic and crusted skin-colored papules and plaques. Pruritus occurs in 80% of patients, and pain is rare. Lesions can be triggered by exposure to ultraviolet light, heat, or stress. Secondary infections of the lesions are a common complication. A definitive diagnosis is obtained by a biopsy showing histological features such as acantholysis, suprabasal clefts, and "corps rond and grains". Here we present a 37-year-old woman admitted to the gynecology department with pruritic lesions she had noticed on her vulva and perineum for three months. A vulvar biopsy led to the diagnosis of Darier disease. She was referred to the dermatology department and treated with oral acitretin since systemic retinoids are offered as the first-line treatment of the disease.

BRAF, NRAS, KIT, TERT, GNAQ/GNA11 Mutation Profile and Histomorphological Analysis of Anorectal Melanomas: A Clinicopathologic Study.

OBJECTIVE: Primary anorectal melanomas (AMs) are uncommon neoplasms with aggressive behavior. Molecular profile and clinicopathologic features of AMs are still not well established. In this study, we aimed to investigate BRAF, NRAS, KIT, TERT, and GNAQ/GNA11 mutation status and clinicopathologic features of AMs. MATERIAL AND METHOD: All diagnostic slides of 15 AMs were reviewed. Histopathological and follow-up information were documented. Mutations in exon 15 of the BRAF gene; exons 2 and 3 of the NRAS gene; exons 9, 11, 13, 17, and 18 of the KIT gene; and exons 4 and 5 of the GNAQ/GNA11 genes and mutations in the promoter region of the TERT gene (chr.5, 1,295,228C > T and 1,295,250C > T) were analyzed. RESULTS: BRAF(V600E) and KIT(V555I and K642E) mutations were observed in one (7%) and two cases (14%), respectively. NRAS, TERT and GNAQ/GNA11 mutations were not detected. The mean age was 65. Patients presented with rectal mass, rectal bleeding, pain, and weight loss. 73% of the lesions were macroscopically polypoid. The most common tumor cell type was epithelioid. Mean tumor thickness was 10.4 mm. One third of the cases lacked pigmentation. In situ melanoma was present in one third of the cases. Among 14 patients with follow-up data, 12 succumbed to disease. The mean overall survival was 36 months. CONCLUSION: AMs are uncommon tumors with dismal survival, usually occurring in the elderly in various gross and microscopic appearances. In terms of molecular profile, BRAF and KIT mutations are rarely detected. Profiling of larger cohorts is required to elucidate the pathogenesis and to identify potential molecular indicators that may contribute to the development of individualized targeted therapies.

Prognostic factors in head and neck mucosal malignant melanoma.

OBJECTIVE: Primary mucosal malignant melanoma of the head and neck (HN-PMMM) is an aggressive and uncommon neoplasm. Herein, we present a series of 33 patients and the results of treatment, and aimed to determine prognostic factors in HN-PMMM. METHODS: Patients who were diagnosed as having HN-PMMM in our reference hospital, between 2005 and 2014 were evaluated. Thirty-three of these patients who had follow-up data were included. Surgical margin status was extracted from the original pathology reports. Archived materials were retrieved for the histopathologic findings: ulceration, necrosis, lymphovascular invasion, perineural invasion, pigmentation, and presence of an in situ component. Mitotic activity was evaluated using phosphohistone H3 (PHH3) immunohistochemical staining. RESULTS: We found an association of PHH3 mitotic activity with overall survival in a univariate analysis and to our knowledge, this is the first report among the available case series of HN-PMMM to evaluate mitotic activity using immunohistochemical staining. We also investigated the relationship between multicentricity and locoregional recurrence, which the authors believe is also a first. CONCLUSION: PHH3 mitotic activity can be used a prognostic factor for head and neck mucosal malignant melanoma.

Mixed Epithelial and Stromal Tumor of the Kidney with Sarcomatous Transformation Metastatic to the Lung. A Case Report.

BACKGROUND: Malignant transformation of mixed epithelial and stromal tumor (MEST) of the kidney is a very rare entity. We report an unusual case with a review of the literature. CASE: A 25-year-old woman underwent surgery for an 8-cm biphasic renal tumor, which was diagnosed as MEST of the kidney. High cellularity, mitoses, and nuclear atypia seen in the stromal component were compatible with a sarcomatous transformation in MEST. The patient also had pulmonary metastatic nodules that were resected 2 months after the nephrectomy. Metastatic pulmonary tumors were morphologically identical to the sarcomatous component of the renal tumor and showed pulmonary epithelial hyperplasia with a phyllodes-like pattern. CONCLUSION: Although MEST of the kidney is known as a benign tumor, malignant transformation, mostly sarcomatous type, should be considered in the diagnosis.

Molecular alterations in malignant blue nevi and related blue lesions.

Malignant blue nevi (MBN) are extremely rare dermal melanocytic tumors that arise in association with atypical cellular blue nevi (ACBN), cellular blue nevi (CBN), common blue nevi (BN), or de novo. The frequency of BRAF, NRAS, and KIT mutations in malignant melanoma varies according to histological subtype and localization. These mutations are rarely observed in blue nevi, which have recently been shown to carry activating mutations in GNAQ/GNA11 genes. Only few small molecular studies of MBN have been published. The aim of the present study was to analyze in MBN and related blue lesions such as ACBN, CBN, and BN the prevalence of BRAF, NRAS, KIT, GNAQ, and GNA11 gene mutations and their association with clinicopathological features. We included in our study 12 MBN, 6 ACBN, 29 CBN, and 35 common BN diagnosed between 1996 and 2014. Sanger sequencing method was used for mutation analysis. Overall, GNAQ exon 5 mutation was the most frequent alteration (46 %), in 2 of 12 (17 %) MBN, 1 of 6 (17 %) ACBN, 22 of 29 (76 %) CBN, and 13 of 35 (37 %) common BN. BRAF V600E and GNA11 exon 5 mutations were respectively detected in 3 of 12 (25 %) and in 2 of 12 (17 %) MBN while none in ACBN, CBN, and common BN. None of the cases harbored NRAS exon 2/3, KIT exon 9/11/13/17/18, or GNAQ/GNA11 exon 4 mutations. GNAQ gene exon 5 mutations are rare in MBN and ACBN but frequent in CBN and common BN. Remarkably, BRAF V600E and GNA11 exon 5 mutations were only detected in MBN, whereas none were found in ACBN, CBN, or common BN. Our data contribute new elements to the limited data on molecular alterations in MBN.