Differential diagnosis of adipocytic differentiation in androgen-secreting mature ovarian teratoma with Leydig cell hyperplasia.

Mature cystic teratomas (dermoid cysts) of the ovary are very rarely associated with androgen production. The source of androgens in these cysts may be tumours such as Sertoli-Leydig cell tumour or Leydig cell hyperplasia. In this study, we present a case of virilisation in a postmenopausal female patient, where Leydig cell hyperplasia in a mature cystic teratoma was found to be responsible for the production of testosterone. In addition, extensive areas of lipomatous differentiation were identified. These areas showed significant alterations in adipocytic morphology, and differential diagnoses such as spindle cell lipoma (SCL) and atypical lipomatous tumour (ALT) were excluded after additional workup. Adipose tissue is traditionally described as an energy reservoir, but recently it has become clear that adipose tissue is a complex endocrine organ with additional metabolic roles in whole body homeostasis. Exuberant proliferation of lipomatous tissue in this teratoma raises the possibility of a synergistic role of Leydig cells and adipocytes in the development of hyperandrogenism.

Role of Human Papillomavirus in Penile Carcinomas Worldwide.

BACKGROUND: Invasive penile cancer is a rare disease with an approximately 22 000 cases per year. The incidence is higher in less developed countries, where penile cancer can account for up to 10% of cancers among men in some parts of Africa, South America, and Asia. OBJECTIVE: To describe the human papillomavirus (HPV) DNA prevalence, HPV type distribution, and detection of markers of viral activity (ie, E6*I mRNA and p16(INK4a)) in a series of invasive penile cancers and penile high-grade squamous intraepithelial lesions (HGSILs) from 25 countries. A total of 85 penile HGSILs and 1010 penile invasive cancers diagnosed from 1983 to 2011 were included. DESIGN, SETTING, AND PARTICIPANTS: After histopathologic evaluation of formalin-fixed paraffin-embedded samples, HPV DNA detection and genotyping were performed using the SPF-10/DEIA/LiPA25 system, v.1 (Laboratory Biomedical Products, Rijswijk, The Netherlands). HPV DNA-positive cases were additionally tested for oncogene E6*I mRNA and all cases for p16(INK4a) expression, a surrogate marker of oncogenic HPV activity. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: HPV DNA prevalence and type distributions were estimated. RESULTS AND LIMITATIONS: HPV DNA was detected in 33.1% of penile cancers (95% confidence interval [CI], 30.2-36.1) and in 87.1% of HGSILs (95% CI, 78.0-93.4). The warty-basaloid histologic subtype showed the highest HPV DNA prevalence. Among cancers, statistically significant differences in prevalence were observed only by geographic region and not by period or by age at diagnosis. HPV16 was the most frequent HPV type detected in both HPV-positive cancers (68.7%) and HGSILs (79.6%). HPV6 was the second most common type in invasive cancers (3.7%). The p16(INK4a) upregulation and mRNA detection in addition to HPV DNA positivity were observed in 69.3% of HGSILs, and at least one of these HPV activity markers was detected in 85.3% of cases. In penile cancers, these figures were 22.0% and 27.1%, respectively. CONCLUSIONS: About a third to a fourth of penile cancers were related to HPV when considering HPV DNA detection alone or adding an HPV activity marker, respectively. The observed HPV type distribution reinforces the potential benefit of current and new HPV vaccines in the reduction of HPV-related penile neoplastic lesions. PATIENT SUMMARY: About one-third to one-quarter of penile cancers were related to human papillomavirus (HPV). The observed HPV type distribution reinforces the potential benefit of current and new HPV vaccines to prevent HPV-related penile neoplastic lesions.

Skull base oncocytoma presenting as epistaxis: an unusual presentation of a rare tumour successfully managed with active surveillance.

Oncocytomas are rare tumours, usually occurring in the salivary glands, but may very occasionally occur in other sites. The authors present a skull base oncocytoma as a rare cause of spontaneous epistaxis. Following diagnosis through imaging and intranasal biopsy, the patient opted for annual surveillance instead of active treatment and made a full recovery nonetheless. Skull base oncocytoma is a rare tumour that may result in otherwise common symptomatology. While excision is the mainstay of management, active surveillance may be a viable alternative for select patients.

Late presentation of metastatic smooth muscle neoplasm of the uterus with low malignant potential.

A 48-year-old woman underwent total abdominal hysterectomy with conservation of the ovaries and tubes. Histology showed a well-circumscribed smooth muscle tumor with foci of degeneration (including infarct-type necrosis) but no coagulative tumor cell necrosis and only mild focal cytological atypia. She presented, 24 years later with shortness of breath and abdominal distension and underwent bilateral salpingo-oophorectomy, appendectomy, omental biopsy and para-aortic lymph node sampling. Histology showed bilateral ovarian smooth muscle tumors with no coagulative tumor cell necrosis or significant cellular atypia. The cells were mitotically active. The tumors in both ovaries were most likely secondary to the previous uterine smooth muscle neoplasm. To our knowledge, this case is the first in the literature to describe a benign cellular leiomyoma that subsequently behaved as a smooth muscle tumor of uncertain malignant potential, which recurred 24 years after the initial diagnosis.

Synchronous diagnosis of multiple tumours in a postmenopausal woman.

We report an unusual case of a postmenopausal woman that was diagnosed with multiple tumours derived from different embryogenic tissues. She presented with postmenopausal vaginal bleeding. Clinical examination revealed a large pelvic mass, tender on palpation. Serum CA-125 level was elevated at 8,985 kU/l (normal range 0-35). A CT scan showed a malignant-appearing right ovarian mass with a peritoneal nodule, small amount of free fluid in the pelvis and evidence of a colonic intussusception. The patient underwent total abdominal hysterectomy, bilateral salpingo-ophorectomy, partial omentectomy and right hemicolectomy with side-to-side anastomosis. Histopathology showed a Grade 3 endometrial adenocarcinoma. Both ovaries were completely replaced by partially necrotic poorly differentiated endometrioid adenocarcinoma. Small deposits of metastatic adenocarcinoma were seen within the omentum. Sections from the retroperitoneal mass showed a low-grade liposarcoma. A large polypoid tumour within the right colon was a tubulo-villous adenoma.

Hepatocellular carcinoma and the penetrance of HFE C282Y mutations: a cross sectional study.

BACKGROUND: Although most patients with hereditary haemochromatosis have HFE C282Y mutations, the lifetime risk to HFE C282Y homozygotes of developing fatal diseases such as hepatocellular carcinoma is uncertain. We have carried out a cross-sectional study to determine the proportion of diagnosed hepatocellular carcinoma patients who are homozygous for the HFE C282Y mutation; and to estimate the penetrance of this genotype with respect to hepatocellular carcinoma in East Anglia. METHODS: Tissue biopsies were analysed from 144 cases of hepatocellular carcinoma for HFE C282Y mutations; the data produced were compared with the frequency of HFE mutations in a large sample of the local population. Data were also retrieved from the East Anglian Cancer Intelligence Unit to determine the annual incidence of hepatocellular carcinoma; and from appropriate life tables. RESULTS: Eight out of 144 of the cases were homozygous for the HFE C282Y mutation, all 8 cases were male. 6 of these 8 cases had a previous diagnosis of hereditary haemochromatosis. Male HFE C282Y homozygotes were more likely to be diagnosed with hepatocellular carcinoma (odds ratio [OR] = 14, 95% confidence interval [CI] = 5-37). For this population, we estimate that the penetrance of the HFE C282Y homozygous genotype, with respect to hepatocellular carcinoma, was between 1.31 % and 2.1% for males and was zero for females. CONCLUSION: In this population, we found that only a very small proportion of homozygotes for the HFE C282Y mutation developed hepatocellular carcinoma. However, individuals with this genotype have a significantly increased risk of this rare disease relative to those who do not carry the mutations.