Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0035412 (rhabdomyosarcoma)
 6,156 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 9-yr-old girl with a history of rhabdomyosarcoma developed multiple pulmonary fibroleiomyomatous hamartomata. This clinical setting illustrates the tendency of these hamartomata to clinically mimic metastatic tumors. Further, this case represents the first description of multiple pulmonary fibroleiomyomatous hamartomata in a pediatric age group, and finally, in this clinical setting, supports the concept that these hamartomata represent a distinct entity apart from benign metastasizing uterine leiomyomata.
 ...
PMID:Multiple pulmonary fibroleiomyomatous hamartomata in childhood. 49 Feb 87

Two human cDNA clones that encode different interleukin-8 (IL8) receptors have recently been isolated. The interleukin-8 receptor type 1 (IL8R1) binds IL8 only, whereas the interleukin-8 receptor type 2 (IL8R2) (previously designated IL8RA) also binds growth regulated gene (GRO), and neutrophil activating protein-2 (NAP-2) with high affinity. In the process of screening a genomic library with these cDNAs to obtain large clones for use in chromosomal localization studies, we isolated an interleukin-8 receptor pseudogene (IL8RP) that bears greatest similarity to IL8R2. Using Southern hybridization analysis of human x rodent somatic cell hybrid DNAs with cDNA probes for IL8R1 and IL8R2 and probes from the IL8RP locus, we assigned the three loci to chromosome 2; fluorescence in situ hybridization (FISH) to metaphase chromosome preparations using genomic clones from each locus refined this localization to chromosome 2, band q35, for all three. By virtue of their chromosomal location, IL8R1 and IL8R2 may be considered candidate genes for several human disorders in which the involved locus has been mapped to distal 2q or that are associated with structural abnormalities of this segment, including van der Woude syndrome and the neoplastic diseases rhabdomyosarcoma and uterine leiomyomata. In addition, because this region of chromosome 2q is homologous to proximal mouse chromosome 1 in the segment containing the Lsh-Ity-Bcg locus involved in mediating host resistance to infection with intracellular pathogens, examination for abnormalities of the murine homologues of the IL8R genes should be considered in mice affected by mutations of this locus.
 ...
PMID:Assignment of the genes encoding human interleukin-8 receptor types 1 and 2 and an interleukin-8 receptor pseudogene to chromosome 2q35. 142 96

Uterine leiomyoma--a benign smooth muscle tumor--has recently been found to contain tumor-specific chromosome aberrations. Although only normal karyotypes were detected in 50 to 80% of cytogenetically investigated tumors, 104 leiomyomas with karyotypic aberrations have already been reported. At least four cytogenetically abnormal subgroups have been identified thus far, characterized by rearrangements of 6p, del(7)(q21.2q31.2), +12, and t(12;14)(q14-15;q23-24). The remaining abnormal tumors have had various nonrecurrent anomalies. Secondary karyotypic rearrangements, sometimes including ring chromosomes, have been found in one-third and reflect clonal evolution. Occasional leiomyomas have contained multiple numerical and structural rearrangements. Though benign, these cytogenetically grossly aberrant tumors often displayed more atypical histological features than are usually seen in leiomyoma. Multiple leiomyomas have been investigated from 69 patients, with detection of chromosome anomalies in at least two separate tumors from the same uterus in ten cases. In half of these patients unrelated aberrations were found in different leiomyomas from the same uterus. On other occasions the aberrations were identical, indicating that although some uterine leiomyomas originate independently, others may develop by intra-myometrial spreading from a common neoplastic clone. Some common features are discernible between the karyotypic pictures of uterine leiomyoma and angioleiomyoma; rearrangements of 6p, 13q, and 21q have been described in both tumor types. The cytogenetic similarities so far detected between leiomyoma and the malignant muscle tumors--leiomyosarcoma and rhabdomyosarcoma--are few and may be fortuitous. The cytogenetic profiles of leiomyoma and lipoma are strikingly similar; both tumor types have nonrandom rearrangements of 12q13-15, t(12;14) in leiomyoma and t(3;12) in lipoma, as well as variant rearrangements of the same 12q segment. Both also have cytogenetic subgroups characterized by changes in 6p and ring chromosomes. Finally, karyotypic similarities exists also between leiomyoma and pleomorphic adenoma of the salivary gland, which includes a subset of tumors with anomalies of 12q13-15, and with myxoid liposarcoma, which has t(12;16)(q13;p11) as a tumor-specific rearrangement.
 ...
PMID:Uterine leiomyoma cytogenetics. 227 65

Recent cytogenetic studies have revealed that several types of benign and malignant human soft tissue tumors are characterized by highly specific chromosome abnormalities. In this article, we review the primary and secondary chromosome aberrations detected in lipoma, uterine leiomyoma, Ewing sarcoma, rhabdomyosarcoma, myxoid liposarcoma, synovial sarcoma, and clear cell sarcoma of tendons and aponeuroses. The primary aberrations are unique for the particular tumor type and therefore are of diagnostic value. Most recent molecular studies indicate that several sarcoma-specific translocations result in the gene fusion and creation of tumor-specific proteins that are novel DNA transcription factors.
 ...
PMID:[Specific chromosome aberrations in human soft-tissue tumors and their diagnostic significance]. 865 44

Mesenchymal neoplasms of the kidney in adults cover a wide spectrum with characteristic ontogeny and histologic findings and variable biologic profiles and imaging findings. Benign mesenchymal renal tumors include angiomyolipoma, leiomyoma, hemangioma, lymphangioma, juxtaglomerular cell tumor, renomedullary interstitial cell tumor (medullary fibroma), lipoma, solitary fibrous tumor, and schwannoma. Malignant renal tumors of mesenchymal origin include leiomyosarcoma, rhabdomyosarcoma, angiosarcoma, osteosarcoma, synovial sarcoma, fibrosarcoma, malignant fibrous histiocytoma, and solitary fibrous tumor. Cross-sectional imaging findings for mesenchymal renal tumors in adults are varied. Although angiomyolipomas and lipomas show macroscopic fat, lymphangiomas are cystic in appearance. Renal hemangioma may show phleboliths and a characteristic enhancement pattern. Leiomyoma typically arises from the capsule and causes buckling of the renal cortex. Although osteosarcoma may demonstrate characteristic dense ossification, most renal sarcomas demonstrate imaging features that are indistinguishable from the more common renal cell carcinoma. Although some renal mesenchymal tumors have typical imaging findings, biopsy is warranted to establish a definitive diagnosis. Awareness of the various mesenchymal renal tumors and familiarity with their imaging findings permit optimal patient management.
 ...
PMID:Mesenchymal neoplasms of the kidney in adults: imaging spectrum with radiologic-pathologic correlation. 2107 73

Leiomyoma of the urinary bladder in the pediatric age group is one of the rarest tumors with only 2 case reports in the English literature. Rhabdomyosarcoma is the commonest tumor at this site in this age group. It needs to be distinguished from rhabdomyosarcoma by histomorphology for appropriate treatment and management. We report the third case of urinary bladder leiomyoma arising in a 6-year-old boy with a short review of the literature.
 ...
PMID:Not All Pediatric Bladder Masses are Rhabdomyosarcoma: Report of a Rare Case With Review of the Literature. 3029 49