PROPROTEIN CONVERTASE 1/3 DEFICIENCY WITH PELVIC EWING SARCOMA.

Proprotein convertase 1/3 (PC 1/3) deficiency is a rare, autosomal recessive disorder caused by mutations in the PCSK1 gene. The disease is characterized by early-onset chronic diarrhea/malabsorption, followed by severe obesity and hormonal deficiencies such as hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Ewing's sarcoma is a rare tumor, usually of small dimensions of neuroectodermal origin that is difficult to distinguish pathologically from a primitive neuroectodermal tumor. A 22-year-old female patient with PC 1/3 deficiency was admitted to our clinic with recurrent urinary tract infections. Magnetic resonance imaging (MRI) revealed an 11x12 cm pelvic mass displacing the uterus. A core-needle biopsy was performed on the pelvic mass. As a result of the pathological evaluation, it was diagnosed with pelvic Ewing's sarcoma. The patient was started on the VAC-IE chemotherapy protocol. We report a case of pelvic Ewing's sarcoma in a patient with PC 1/3 deficiency. Further research is needed to assess malignancy risk in metabolic disorders including very rare disorders like PC 1/3 deficiency.

Recurrence rate of odontogenic keratocyst treated by enucleation and peripheral ostectomy: Retrospective case series with up to 12 years of follow-up.

BACKGROUND: Odontogenic keratocysts have been reported with high recurrence rates in the literature so various treatment modalities from simple enucleation to resection have been performed to achieve the cure. The purpose of this retrospective study was to investigate the recurrence rate of odontogenic keratocysts (OKCs) treated by enucleation and peripheral ostectomy. MATERIAL AND METHODS: An electronic search of the database of the Hacettepe University, Faculty of Medicine, Department of Pathology, was undertaken to identify patients histologically diagnosed with OKCs treated at Department of Oral and Maxillofacial Surgery between 2001 and 2015. RESULTS: In total, 81 patients were studied. The mean age at the time of diagnosis was 42 years, and the male:female ratio was 1:0.7. OKCs were located primarily in the posterior mandibular region (41%). Twenty-seven patients were re-examined to determine the recurrence rate. The mean follow-up period was 5 years (range, 1-12 years). The recurrence rate was 14.8%. The relationship between location of the lesion and recurrence was not statistically significant (p = 0.559). There was also no statistically significant relation between the recurrence rate and treatment option of teeth involved in the lesion (p = 0.579). CONCLUSIONS: The authors conclude that treatment of OKCs by enucleation with peripheral ostectomy is associated with minimal morbidity and is preferred over other aggressive treatment modalities. Meticulous radiographic examination and careful surgical resection may decrease the recurrence rate of OKCs.

Diagnostic accuracy of intraoperative consultation (frozen section) in borderline ovarian tumours and factors associated with misdiagnosis.

The objective of our study was to evaluate the accuracy of frozen section (FS) in borderline ovarian tumours (BOT) and to define the factors associated with misdiagnosis during FS evaluation. We performed a retrospective review of patients who underwent exploratory laparotomy for an adnexal mass, from January 2007 to July 2012, at a tertiary oncology centre in Turkey. Patients with a diagnosis of BOT either in FS or in permanent pathology were identified. Agreement between FS diagnosis and permanent histology was observed in 37/59 patients (62.7%), which gave a sensitivity and a positive predictive value of 71.2% and 84.1%, respectively. In patients with a diagnosis of BOT by frozen section only (n = 44), the diagnosis was consistent with permanent histopathology in 37/44 patients (84.1%). Frozen section interpreted a malignant tumour as BOT (under-diagnosis) in 6/44 (13.6%) of cases and interpreted a benign lesion as BOT (over-diagnosis) in 1/44 (2.3%) of cases. Slide review of discrepant cases revealed that major pathological causes of under-diagnosis were misinterpretation and sampling errors. Univariate analysis showed that presence of bilateral tumour and positive peritoneal cytology were associated with under-diagnosis. We concluded that, despite significant risk of under-diagnosis, FS analysis is an accurate method for intraoperative diagnosis of BOTs.

Tumor apelin immunoreactivity is correlated with body mass index in ovarian high grade serous carcinoma.

Ovarian cancer has a high mortality rate. Serous carcinoma is the most common subtype and can be detected by distant or lymph node metastasis in advanced stages. Apelin, an adipokine associated with obesity, and its receptor, APJ, participate in lymphatic invasion. Angiogenesis also can affect lymph node involvement in serous ovarian carcinomas. We investigated apelin/APJ receptor immunoreactivity in stages III and IV ovarian cancer with or without lymph node involvement and correlated the results with body mass index (BMI) to determine whether the potential relation of the two affects the outcome of the cancer. We investigated 30 patients diagnosed between 2014 and 2016 with high grade serous ovarian cancer. Tumor:stroma ratio, indirect immunoperoxidase method, H-score and MATLAB analysis were performed. In obese and pre-obese patients, tumor apelin immunoreactivity was stronger than for patients with normal BMI. Tumor:stroma ratio was correlated with survival and lymph node involvement. Strong apelin and moderate APJ immunoreactivity was detected in both lymph node negative and positive patients. BMI was related to both survival outcome and apelin immunoreactivity. BMI, adipokines such as apelin, and the stromal compartment play critical roles in advanced stage serous carcinomas.

The accuracy of frozen section analysis at hysterectomy in patients with atypical endometrial hyperplasia.

PURPOSE OF INVESTIGATION: To evaluate the accuracy of frozen section analysis in patients with atypical endometrial hyperplasia. METHODS: Women who underwent hysterectomy with frozen section analysis for atypical endometrial hyperplasia were identified. Frozen section evaluation aimed to give information about the presence of malignancy. Also, myometrial or cervical involvement was assessed in cases with malignancy to reveal the need for staging. Final pathological evaluation results were compared with intraoperative frozen section analyses. RESULTS: Twelve patients (34.3%) had endometrial cancer on final pathologic examination and eight required a staging procedure due to either myometrial invasion or cervical involvement; 75% of patients with endometrial cancer were successfully detected by frozen section analysis. Moreover, among women with cancer, frozen section examination revealed 75% of cases who required surgical staging. CONCLUSION: Frozen section analysis of hysterectomy specimens in patients with atypical endometrial hyperplasia is necessary to determine the presence of cancer and the need for surgical staging.

Radiotherapy in congenital vulvar lymphangioma circumscriptum.

Congenital lymphangioma circumscriptum (LC) of the vulva is a rare disorder with unknown etiology. Treatment options include ablative approaches such as laser therapy, sclerotherapy, and surgery. Radiotherapy has been shown to be effective in the management of congenital lymphangioma especially in the thoracic and abdominal lesions. In this report, we describe a patient with persistent vulvar LC despite sclerosing therapy and several surgical excisions. She was treated with a course of external radiotherapy and showed a dramatic objective response with relief of all symptoms.

Vaginal high dose rate brachytherapy alone in patients with intermediate- to high-risk stage I endometrial carcinoma after radical surgery.

The objective of this study was to analyze the efficacy and morbidity of vaginal cuff brachytherapy alone in intermediate- to high-risk stage I endometrial cancer patients after complete surgical staging. Between October 1994 and November 2005, 128 patients with intermediate- to high-risk stage I endometrial adenocarcinoma were treated with high dose rate (HDR) brachytherapy alone after complete surgical staging. The intermediate- to high-risk group was defined as any stage I with grade 3 histology or stage IB grade 2 or any stage IC disease. The comprehensive surgery was in the form of total abdominal hysterectomy, bilateral salpingo-oophorectomy in addition to infracolic omentectomy, and routine pelvic and para-aortic lymphadenectomy. The median number of the lymph nodes dissected was 33. The median age at the time of diagnosis was 60 years. Forty patients were staged as IB (grade 2: 25 and grade 3: 15), and 88 patients were staged as IC (grade 1: 31, grade 2: 41, and grade 3: 16). A total dose of 27.5 Gy with HDR brachytherapy, prescribed at 0.5 cm, was delivered in five fractions in 5 consecutive days. Median follow-up was 48 months. Six (4.7%) patients developed either local recurrence (n = 2) or distant metastases (n = 4). Five-year overall survival and disease-free survival (DFS) rates are 96% and 93%, respectively. Only age was found to be significant prognostic factor for DFS. Patients younger than 60 years have significantly higher DFS (P = 0.006). None of the patients experienced grade 3/4 complications due to the vaginal HDR brachytherapy. Vaginal cuff brachytherapy alone is an adequate treatment modality in stage I endometrial adenocarcinoma patients with intermediate- to high-risk features after complete surgical staging with low complication rates.

Well differentiated mesothelioma complicating endometrial carcinoma; a case report.

Peritoneal mesothelioma is a rare cancer of the abdominal cavity which has low malignant potential. Peritoneal mesothelioma can mimic other types of gynecologic malignancies. Careful clinical and pathologic evaluation is essential for an accurate diagnosis and treatment.

PAX2, PAX8 and CDX2 Expression in Metastatic Mucinous, Primary Ovarian Mucinous and Seromucinous Tumors and Review of the Literature.

Ovarian cancer is the most common cause of gynecologic cancer death. Both morphologically and immunohistochemically, metastatic mucinous tumors are the best mimickers of mucinous ovarian tumors; its pathogenesis still remains a mystery. PAX2 and PAX8 immunohisyochemistries are useful for differentiating numerous primary tumour types from metastatic ones. There are few studies in literature about PAX expressions in mucinous and seromucinous tumors. None of these are takes into account the histologic type (whether it is seromucinous or mucinous) or the metastatic origin. With this purpose hematoxylin and eosine slides of ovarian mucinous and seromucinous tumors were re-evaluated and one block was chosen for each case. The study included 76 ovarian mucinous and seromucinous tumors of the ovary reported in Hacettepe University department of pathology between 2000 and 2013. Tissue microarray (TMA) was designed from the chosen blocks, PAX2, PAX8, CDX2 immunostains was preformed to the TMA slides. As a result, most of the metastatic cases were negative for PAX2 (91.2 %) and PAX8 (86.3 %), many were diffusely and strongly positive for CDX2 (68.2 %). Seromucinous tumors were devoid of CDX2 expression; but all cases (except one) displayed strong and diffuse positivity with PAX8. In other words differing from mucinous tumors, seromucinous tumors show strong PAX8 positivity-similar to serous tumors. This study shows that PAX8 and CDX2 could be useful in differentiating primary mucinous from metastatic tumor. Furthermore unlike the homogeneity in seromucinous tumors for PAX8 and CDX2 mucinous tumors shows heterogeneity with different expression patterns.