Zhen Huo

Extranodal Rosai-Dorfman disease involving the right atrium in a 60-year-old male

Rosai-Dorfman disease (RDD) involving the cardiovascular system is extremely rare; to our knowledge, there are only 9 cases in the literature. Here, a case of a 60-year-old male with RDD involving the right atrium is presented. A comprehensive literature review was undertaken to summarize the clinical and pathologic features of this disorder.Virtual SlidesThe virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/2143194139120169.

Primary Pulmonary Mucoepidermoid Carcinoma: Histopathological and Moleculargenetic Studies of 26 Cases

Introduction Pulmonary mucoepidermoid carcinoma (PMEC) is an uncommon neoplasm of the lung and the main salivary gland-type lung carcinoma. The aims of this study were to review the clinicopathological and immunohistochemical features of PMEC and characterize the genetic events in PMEC. Methods We reviewed the pathology cases in our hospital and found 34 initially diagnosed PMEC cases, 26 of which were confirmed as PMEC after excluding 8 cases of MEC-like pulmonary carcinoma. The clinicopathological characteristics of the 26 PMEC cases and the 8 cases of MEC-like pulmonary carcinoma were retrospectively reviewed. MAML2 rearrangement was detected by fluorescence In Situ Hybridization (FISH). Immunostains of ALK, calponin, collagen IV, CK7, EGFR, HER2, Ki-67, Muc5Ac, p63, p40, and TTF-1 were performed. DNA was extracted from 23 cases of PMEC. Mutation profiling of the EGFR, KRAS, BRAF, ALK, PIK3CA, PDGFRA, and DDR2 genes were carried out using next-generation sequencing (NGS), Sanger sequencing, and quantitative polymerase chain reaction (QPCR) in 9 successfully amplified cases. Results Twenty-six cases of PMEC (18 low-grade, 8 high-grade) included 13 men and 13 women aged 12–79 years. Twenty-two cases had a central/endobronchial growth pattern, and 4 cases had a peribronchial growth pattern. Immunohistochemically, CK7, Muc5Ac, p40, and p63 were positive in all cases (26/26);EGFR was positive in 11 cases (11/26); TTF-1, Calponin, HER2 and ALK were negative in all cases (0/26). MAML2 rearrangement was identified in 12 of 18 PMEC cases. No mutations were detected in any of the 7 genes in the 9 cases that qualified for mutation analysis. Twenty-three PMEC patients had follow-up information with a median interval of 32.6 months. Both the 5- and 10-year overall survival rates (OS) were 72.1%, and a high-grade tumor was an adverse prognostic factor in PMEC. There were 8 cases of MEC-like pulmonary carcinoma aged 36–78 years: 2 cases were located in the bronchus, and 6 cases were located in the lung. p63 and TTF-1 were positive in all cases (8/8), p40 was positive in 5 cases (5/8), and ALK was positive in 5 cases (5/8). No cases of MAML2 rearrangement were detected, but there were 5 cases of ALK rearrangement. Conclusions PMEC is a primary malignant pulmonary tumor with a relatively good prognosis that is historically characterized by the presence of mucous cells and a lack of keratinization. There are distinct differences between PMEC and MEC-like pulmonary carcinoma in tumor location preference, immunophenotype, and molecular genetics, and the differential diagnosis is critical due to the therapeutic and prognostic considerations.

Fluorescence In Situ Hybridization with the UroVysion Kit for the Detection of Biliary Cancer in Chinese Patients

BACKGROUND Conventional biliary brush via ERCP has low clinical detection for biliary malignancy. Therefore, new approaches are needed to facilitate diagnosis. We therefore explored the application of fluorescent in situ hybrization (FISH) using a UroVysion kit for the detection of malignancy in the bile duct. METHODS Genetic alterations of target chromosomes such as aneuploidy in Chinese biliary cancer cell lines and tissues were measured using a UroVysion kit. The diagnostic value of the FISH assay was assessed by probing 27 brush samples of biliary cytology and control routine cytology (RC) samples. The gold standard was established by the pathology or clinical outcomes at the 12-month follow-up. RESULTS Aneuploidy is commonly found in cell lines and tissues of biliary cancers, but not in normal cells or tissues. Here we probed for aneuploidy in clinical biliary brush specimens obtained by ERCP using FISH and a UroVysion kit. The sensitivity, specificity, and positive and negative predictive values for biliary malignancy were found to be 50%, 100%, 100% and 31.3%, respectively. The sensitivity, specificity, and positive and negative predictive values by RC were found to be 22.7%, 100%, 100% and 22.7%, respectively. In combination with RC, FISH increased the diagnostic sensitivity to 63.6% although this difference was not found to be statistically significant. CONCLUSIONS Aneuploidy is frequently present in bile duct carcinomas. Here we found that the FISH assay is useful for the detection of Chinese biliary cancers.

Organizing pneumonia components in non-specific interstitial pneumonia (NSIP): a clinicopathological study of 33 NSIP cases

To review the clinical, radiological and pathological features of non‐specific interstitial pneumonia (NSIP), mainly to characterize organizing pneumonia (OP) components in NSIP.

Clinicopathological features and BRAF V600E mutations in patients with isolated hypothalamic-pituitary Langerhans cell histiocytosis

BackgroundIsolated hypothalamic-pituitary Langerhans cell histiocytosis (HPLCH) is very rare. We investigated the clinicopathological characteristics, endocrine function changes, BRAFV600E mutations and treatments of isolated HPLCH.MethodsWe identified seven patients with isolated HPLCH by reviewing the clinical and pathological files in our hospital from 2007 to 2015. The clinical characteristics of the seven patients were retrospectively reviewed, especially the endocrine function changes. Immunostaining and mutation profiling of BRAFV600E were performed.ResultsThe seven HPLCH patients included three men and four women, aged 9–47 years. All patients presented with symptoms of central diabetes insipidus (CDI), and four displayed anterior pituitary hypofunction as well. Magnetic resonance imaging showed hypothalamic-pituitary axis involvement in all patients. There was no evidence for the involvement of other organs in all seven patients. Langerhans cell histiocytosis was confirmed by neuroendoscopic procedures, and immunohistochemical staining showed that all cases (7/7) were positive for CD68, CD1a, Langerin, and S-100. The BRAFV600E mutation was detected in three of the six cases (3/6). Six patients had follow-up information; all received desmopressin acetate and high-dose corticosteroid therapy, and two patients received radiotherapy.ConclusionsOur study indicated that all patients with isolated HPLCH had CDI as the earliest symptom, and more than half of the patients had anterior pituitary deficiencies. The BRAFV600E mutation is a common genetic change in HPLCH patients. Treatment of HPLCH patients is difficult, and the progressive loss of endocrine function is irreversible in most cases.

Primary synovial sarcoma of the right heart involving the tricuspid valve in an elderly Chinese woman: a case report.

Described herein is a 51-year-old woman with abdominal discomfort who was found to have a pericardial effusion and a large mass in her right heart by computed tomography scan and who then underwent tumour resection surgery. The tumour was so extensive that it involved the right atrium, the right ventricle and the tricuspid valve, and encompassed the right coronary artery. The patient had no significant medical history, and no tumour was found at any other site. The morphology of the tumour mimicked carcinosarcoma, exhibiting mixed epithelioid and spindle elements and it was difficult to differentiate the diagnosis even by immunohistochemical stains. Then, the final diagnosis of primary biphasic synovial sarcoma of the heart was established based on the finding of SS18 rearrangement. This is a highly intriguing rare case that may represent a diagnostic pitfall, particularly regarding frozen section. The patient will receive chemotherapy, and we will pursue follow-up.