SMARCB1-deficient renal medullary carcinoma with an EML4::ALK fusion gene in a Japanese woman.

Renal medullary carcinoma is a rare, high-grade carcinoma arising in the renal medulla, which is usually associated with sickle cell trait, and there are very few documented cases in the Japanese population. We report a case of renal medullary carcinoma, immunohistochemically defined as SMARCB1 deficient, in a 67-year-old Japanese woman without a history of sickle cell trait. Somatic mutation of SMARCB1 and an EML4::ALK fusion gene were identified by comprehensive genomic profiling.

Establishment of a human ovarian clear cell carcinoma cell line mutant in PIK3CB but not PIK3CA.

A human ovarian clear cell carcinoma cell line was established from a 46-year-old Japanese woman. That line, designated MTC-22, has proliferated continuously for over 6 months in conventional RPMI 1640 medium supplemented with 10% foetal bovine serum and has been passaged over 50 times. MTC-22 doubling-time is ~ 18 h, which is much shorter than most ovarian clear cell carcinoma lines reported to date.

Orbital Epstein-Barr virus-related post-transplant lymphoproliferative disorder in a 13-year-old girl with cord blood transplantation.

Epstein-Barr virus-associated post-transplant lymphoproliferative disorder (EBV-PTLD) is increasingly recognized as a life-threatening complication after transplantation. Most areas affected by EBV-PTLD are lymph nodes, with occasional reports of extranodal lesions such as the gastrointestinal tract and central nervous system; however, orbital regions are extremely rare. We report a case of EBV-PTLD in a cord blood transplant recipient with a tumor in the upper right eyelid.

An anaplastic pleomorphic xanthoastrocytoma with periventricular extension: An autopsy case report and review of the literature.

Pleomorphic xanthoastrocytomas (PXAs) are rare low-grade astrocytic tumors that typically present as superficial nodular cystic tumors of the cerebrum attached to the leptomeninx. Histologically, they are pleomorphic, hypercellular glial neoplasms. Despite the presence of microscopic pleomorphism, patients' postoperative prognosis is generally good.

Utility of bronchial lavage fluids for epithelial growth factor receptor mutation assay in lung cancer patients: Comparison between cell pellets, cell blocks and matching tissue specimens.

The detection of epidermal growth factor receptor () mutations is necessary for the selection of suitable patients with non-small cell lung cancer (NSCLC) for treatment with EGFR tyrosine kinase inhibitors. Cytology specimens are known to be suitable for mutation detection, although tissue specimens should be prioritized; however, there are limited studies that examine the utility of bronchial lavage fluid (BLF) in mutation detection. The purpose of the present study was to investigate the utility of BLF specimens for the detection of mutations using a conventional quantitative polymerase chain reaction (PCR) assay.

Lung Adenocarcinoma With MUC4 Expression Is Associated With Smoking Status, HER2 Protein Expression, and Poor Prognosis: Clinicopathologic Analysis of 338 Cases.

Background: MUC4 is a transmembrane glycoprotein that plays a role in the cell growth signaling pathway and has been studied in various organ malignancies. This study aimed to analyze MUC4 expression in resected lung adenocarcinomas (ADCs) to define the clinicopathologic characteristics of MUC4-positive cancers.

Patients And Methods: Immunohistochemical MUC4 analysis was performed using tissue microarray slides containing 338 lung ADCs.

Rapid diagnosis of acute promyelocytic leukemia with the PML-RARA fusion gene using a combination of droplet-reverse transcription-polymerase chain reaction and instant-quality fluorescence in situ hybridization.

Background: Acute promyelocytic leukemia (APL) with the PML-RARA fusion gene can be effectively cured using molecular-targeted therapies, which require both detection and quantification of the PML-RARA fusion gene. Here, we developed a rapid assay for identifying and measuring the PML-RARA fusion gene in patients with APL using droplet-reverse transcription-polymerase chain reaction (droplet-RT-PCR) and instant quality-fluorescence in situ hybridization (IQ-FISH).

Methods: RNA for droplet-RT-PCR and fixed-cell suspensions for IQ-FISH were prepared from five patients with APL and three controls.

Epithelial-mesenchymal transition of A549 cells is enhanced by co-cultured with THP-1 macrophages under hypoxic conditions.

Epithelial-mesenchymal transition (EMT) is associated with pulmonary fibrosis, including idiopathic pulmonary fibrosis (IPF). In this study, we investigated EMT of human pulmonary epithelial-derived cells (A549). A549 cells was either cultured by itself or co-cultured with THP-1 macrophages under normoxic (21% O2) and hypoxic (2% O2) conditions.

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots.

The high frequency (3.3-3.9%) of acid α-glucosidase pseudodeficiency, c.