Mouse Anti Human tyrosine 3-monooxygenase or tryptophan 5-monooxygenase activation protein, epsilon Polypeptide Hybridoma [DQUD-ZXIBF-2]

Motivation: Deciphering the modus operandi of dysregulated cellular mechanisms in cancer is critical to implicate novel cancer genes and develop effective anti-cancer therapies. Fundamental to this is meticulous tracking of the behavior of core modules, including complexes and pathways across specific conditions in cancer. Results: Here, we performed a straightforward yet systematic identification and comparison of modules across pancreatic normal and cancer tissue conditions by integrating PPI, gene-expression and mutation data. Our analysis revealed interesting change-patterns in gene composition and expression correlation particularly affecting modules responsible for genome stability. Although in most cases these changes indicated impairment of essential functions (e.g. of DNA damage repair), in several other cases we noticed strengthening of modules possibly abetting cancer. Some of these compensatory modules showed switches in transcription regulation and recruitment of tumor inducers (e.g. SOX2 through overexpression). In-depth analysis revealed novel genes in pancreatic cancer, which showed susceptibility to copy-number alterations (e.g. for USP15 in 17 of 67 cases), supported by literature evidence for their involvement in other tumors (e.g. USP15 in glioblastoma). Two of the identified genes, YWHAE and DISC1, further supported the nexus between neural genes and pancreatic carcinogenesis. Extension of this assessment to BRCA1 and BRCA2 breast tumors showed specific differences even across the two sub-types and revealed novel genes involved therein (e.g. TRIM5 and NCOA6).

Endometrial stromal tumors (ESTs) are composed of cells resembling endometrial stroma, and are divided into benign and malignant types based on morphology. Endometrial stromal nodule (ESN) is a benign localized tumor, and endometrial stromal sarcoma (ESS) is an infiltrative and potentially metastatic neoplasm. A series of genetic aberrations contribute to pathological diagnosis of ESTs. At present, subsets of ESN and ESS-low grade (ESS-LG) are characterized as JAZF1-SUZ12/JJAZ1 gene fusion. The ESTs that show higher grade atypia but lack nuclear pleomorphism include YWHAE-FAM22 ESS. Here we report an unusual case of ESTs. Sudden colonic perforation occurred to the patient, and emergency surgery was performed. Pathological findings suggested metastatic ESS. Thorough medical examination of the genital organs detected a 1 cm-sized well-demarcated uterine tumor. Microscopically, the tumor lacked infiltrative features, conforming to the definition of ESN. Both lesions demonstrated identical cytology and shared JAZF1-SUZ12 gene fusion. Endometriosis was not found in any areas of the resected organs, strongly suggesting that the uterine orthotopic tumor metastasized. The current case uncovered the problems of differential diagnosis between ESN and ESS-LG. We demonstrate detailed pathological features of the two lesions, and discuss the possibility of orthotopic EST with limited infiltration to develop into ESS-LG.