Molecular analysis of ovarian mucinous carcinoma reveals different cell of origins.

It is believed that a subset of primary ovarian mucinous tumors is derived from mature teratomas [1-5]. To confirm this, we performed microsatellite genotyping using a variety of short tandem repeat makers and analyzed allelotypes of 8 mucinous tumors (4 mucinous carcinomas, 3 atypical proliferative mucinous tumors and 1 mucinous cystadenoma) associated with a teratoma to determine whether they were clonally related. 7 of the 8 mucinous tumors showed complete or a high degree of homozygosity. Among the 6 pairs of tumors with teratoma tissue available for comparison, 5 of 6 showed a high or complete degree of allelotypes matching, which differed from the somatic allelotypes of the normal control tissue. A discrepancy was detected between carcinoma and teratoma in one pair at several loci, with different X-chromosome inactivation patterns revealed by the HUMARA clonality assay. We also investigated the allelotypes of 16 ovarian mucinous carcinomas without a teratoma in young patients (range 13-30) and in 6 older patients (range 40-67) using the same method. None of these tumors showed pure homozygosity. The number of homozygous loci in this cohort was significantly lower than that in the first. Our results suggest first, that most mucinous tumors associated with a teratoma are derived from the teratoma but occasionally they could be collision tumors and second that the majority of pure mucinous tumors in young women in whom a teratoma is not present are not derived from a teratoma.

Prognosis of minimally invasive carcinoma arising in mucinous cystic neoplasms of the pancreas.

Although patients with surgically resected noninvasive mucinous cystic neoplasms (MCNs) of the pancreas are cured, the behavior of surgically resected minimally invasive adenocarcinomas arising in MCN has not been well established. We report 16 surgically resected MCNs with minimal invasion defined as unifocal or multifocal microscopic invasive adenocarcinoma confined to the ovarian stroma of the MCN without capsular or pancreatic parenchymal invasion. Pathologic findings were correlated with patient demographics, type of surgery, and long-term follow-up. Our study included 15 women and 1 man ranging in age from 25 to 66 years. The patients were followed up for a mean of 48.6 months (range, 12 to 148 mo). The MCNs ranged in size from 3.5 to 25 cm and were all located in the body/tail of the gland. Lymphovascular invasion was not identified in any of the cases, and all lymph nodes were negative for tumor. Ten neoplasms had unifocal invasion, whereas 6 had multifocal invasion. Twelve of the neoplasms were partially submitted for microscopic examination, whereas 4 were submitted entirely. Only 1 of the 16 minimally invasive MCNs recurred, and that tumor had been lighlty sampled pathologically. Our study demonstrates that the majority of patients with minimally invasive adenocarcinoma arising in MCNs are cured by surgery, particularly if the neoplasms are completely examined histologically.

The diagnostic efficacy of combining bronchoscopic tissue biopsy and endobronchial ultrasound-guided transbronchial needle aspiration for the diagnosis of malignant lesions in the lung.

Bronchoscopic tissue forceps biopsy (BBX) is a standard procedure for diagnosis of malignancy in the lung. Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) has proven to be a sensitive alternative to tissue biopsy for the diagnosis and staging of lung tumors. We report our institutional experience with diagnostic yield when combining BBX and EBUS-TBNA in the bronchoscopic evaluation of patients presenting with lung lesion(s). The pathology files at our institution were searched for all patients who underwent combined BBX and EBUS-TBNA procedures between 1/09 and 6/10 for the diagnosis of malignancy. The data points included biopsy site, cytologic, and histopathologic diagnoses and follow-up. We identified 115 patients who underwent BBX combined with EBUS-TBNA. About 107 (93%) of the patients received a definitive pathologic diagnosis; 93 (81%) were malignant. BBX and EBUS-TBNA of the lung lesion only were performed in 21 patients, BBX and EBUS-TBNA of lymph node(s) only in 78 patients with BBX and a combination of EBUS-TBNA of the lung lesion and lymph node(s) in 16 patients. Immunostains were performed for 71 (76%) patients and molecular testing for 11 (12%) patients. Diagnostic yield is increased when bronchoscopic technologies are combined. In a significant number of patients where BBX was negative, EBUS-TBNA provided diagnostic material, increasing diagnostic yield by 18%. In a subset of these patients the EBUS-TBNA assisted in the staging of a primary tumor. By combining these procedures, more tissue was obtained for immunohistochemistry and molecular testing, which facilitated personalized management in a minimally invasive manner.

Utility of on-site evaluation of endobronchial ultrasound-guided transbronchial needle aspiration specimens.

BACKGROUND: Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is an integral tool in the diagnosis and staging of malignant tumors of the lung. Rapid on-site evaluation (ROSE) of fine needle aspiration (FNA) samples has been advocated for as a guide for assessing the accuracy and adequacy of biopsy samples. Although ROSE has proven useful for numerous sites and procedures, few studies have specifically investigated its utility in the assessment of EBUS-TBNA specimens. The intention of this study was to explore the utility of ROSE for EBUS-TBNA specimens. MATERIALS AND METHODS: The pathology files at our institution were searched for all EBUS-TBNA cases performed between January 2010 and June 2010. The data points included number of sites sampled per patient, location of site(s) sampled, on-site evaluation performed, preliminary on-site diagnosis rendered, final cytologic diagnosis, surgical pathology follow-up, cell blocks, and ancillary studies performed. RESULTS: A total of 294 EBUS-TBNA specimens were reviewed and included in the study; 264 of 294 (90%) were lymph nodes and 30 of 294 (10%) were lung mass lesions. ROSE was performed for 140 of 294 (48%) specimens. The on-site and final diagnoses were concordant in 104 (74%) and discordant in 36 (26%) cases. Diagnostic specimens were obtained in 132 of 140 (94%) cases with on-site evaluation and 138 of 154 (90%) without on-site evaluation. The final cytologic diagnosis was malignant in 60 of 132 (45%) cases with ROSE and 46 of 138 (33%) cases without ROSE, and the final diagnosis was benign in 57 of 132 (47%) with ROSE and 82 of 138 (59%) without ROSE. A cell block was obtained in 129 of 140 (92%) cases with ROSE and 136 of 154 (88%) cases without ROSE. CONCLUSIONS: The data demonstrate no remarkable difference in diagnostic yield, the number of sites sampled per patient, or clinical decision making between specimens collected via EBUS-TBNA with or without ROSE. As a result, this study challenges the notion that ROSE is beneficial for the evaluation of EBUS-TBNA specimens.