Heart Neoplasms/genetics* ; Hemangiosarcoma/genetics* ; Humans ; Mediastinal Neoplasms ; Thymus Neoplasms

OBJECTIVETo investigate the clinical features in children with tuberous sclerosis complex (TSC)-associated cardiac rhabdomyomas (CRM).

METHODSThe clinical data of 15 children with TSC complicated by CRM were collected. The clinical features of the patients were analyzed, and TSC gene mutations were detected.

RESULTSEleven cases (73%) developed multiple CRM. The majority of the tumors were located in the left and right ventricles. Most tumors presented as a round-like hyperechogenic mass with a clear margin on echocardiography. Arrhythmias occurred in 3 patients and 2 patients experienced heart failure. Gene mutation tests were performed in 2 patients, and pathogenic mutations were detected in both patients, which were TSC1 mutation and TSC2 mutation, respectively. Three patients were followed up for 6 to 38 months, and their CRM shrank or regressed spontaneously.

CONCLUSIONSTSC-associated CRM is generally multiple. Heart failure and arrhythmias may occur in some patients. Echocardiography is important for diagnosis of CRM. TSC-associated CRM has an inclination to spontaneous regression. TSC can be diagnosed at a molecular genetic level by TSC gene mutation detection.

Child, Preschool ; Female ; Heart Neoplasms ; complications ; genetics ; Hemodynamics ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Rhabdomyoma ; complications ; genetics ; Tuberous Sclerosis ; etiology ; Tumor Suppressor Proteins ; genetics

MicroRNAs (miRNAs) are endogenous noncoding RNAs, about 22 nucleotides in length, that mediate post-transcriptional gene modulation by annealing to inexactly complementary sequences in the 3'-untranslated regions of target mRNAs. miRNA alterations are involved in the initiation and progression of human diseases. miRNA-expression profiling of human diseases has identified signatures associated with diagnosis, staging, progression, prognosis and response to treatment. Recent evidence has suggested miRNAs as viable therapeutic targets for a wide range of human diseases. Several approaches were performed, the experimental examination of these techniques and the resultant findings not only indicate feasibility of interfering miRNA action in a gene-specific fashion but also may provide a new research tool for studying function of miRNAs. The new approaches also have the potential of becoming alternative gene therapy strategies.
Animals ; Drug Design ; Gene Expression Profiling ; Gene Expression Regulation ; Gene Silencing ; Genetic Therapy ; methods ; Heart Diseases ; genetics ; metabolism ; therapy ; Humans ; Hypertension ; genetics ; metabolism ; therapy ; MicroRNAs ; genetics ; metabolism ; Neoplasms ; genetics ; metabolism ; therapy ; RNA, Messenger ; genetics

OBJECTIVETo study the clinical and pathologic features of primary cardiac inflammatory myofibroblastic tumor.

METHODSA total of 4 patients with primary cardiac inflammatory myofibroblastic tumor were encountered during the period from 1993 to 2013 in National Center for Cardiovascular Disease. The clinical features, imaging findings and outcomes of the 4 patients were evaluated. ALK protein expression and ALK gene status were studied using the archival tumor tissues.

RESULTSThere were 1 female and 3 male patients. The age of patients ranged from 5 months to 30 years (mean = 16 years). The tumor was located in right ventricle (n = 2), right atrium (n = 1) or pericardium (n = 1). Histologic patterns included 2 cases of fibrous histiocytoma type, 1 case of granulomatous type and 1 case of sclerosing type. Immunohistochemical study showed that 2 cases expressed ALK protein. Fluorescence in-situ hybridization however did not reveal any ALK gene rearrangement.

CONCLUSIONSInflammatory myofibroblastic tumor of the heart is rarely encountered and easily misdiagnosed. It carries distinctive clinical and pathologic features. ALK protein expression is helpful in arriving at the correct diagnosis.

Adolescent ; Adult ; Biomarkers, Tumor ; genetics ; metabolism ; Child ; Diagnosis, Differential ; Female ; Granuloma, Plasma Cell ; enzymology ; pathology ; Heart Neoplasms ; enzymology ; pathology ; Histiocytoma, Benign Fibrous ; enzymology ; pathology ; Humans ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Infant ; Male ; Receptor Protein-Tyrosine Kinases ; genetics ; metabolism

12E7 Antigen ; Antigens, CD ; metabolism ; Cell Adhesion Molecules ; metabolism ; Diagnosis, Differential ; Fibrosarcoma ; metabolism ; pathology ; Heart Neoplasms ; genetics ; metabolism ; pathology ; surgery ; Humans ; Male ; Mesothelioma ; genetics ; metabolism ; pathology ; Middle Aged ; Mucin-1 ; metabolism ; Oncogene Proteins, Fusion ; metabolism ; Pericardiectomy ; Pericardium ; pathology ; Sarcoma ; metabolism ; pathology ; Sarcoma, Synovial ; genetics ; metabolism ; pathology ; surgery ; Translocation, Genetic ; Vimentin ; metabolism