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)

We report two cases of abdominal desmoplastic small round cell tumor (DSRCT) that showed a clinical response to the vinorelbine/low-dose cyclophosphamide combination that has been claimed to be effective for rhabdomyosarcoma. This observation may prompt further investigation into the activity of such a regimen in DSRCT patients with recurrent or refractory disease, with a view to a possible future role as maintenance therapy in controlling minimal residual disease in patients who achieve complete remission with intensive induction multimodality therapy.
 ...
PMID:Response to vinorelbine and low-dose cyclophosphamide chemotherapy in two patients with desmoplastic small round cell tumor. 1630 15

Purpose/results/discussion. Recurrent chromosomal translocations are common features of many human malignancies. While such translocations often serve as diagnostic markers, molecular analysis of these breakpoint regions and the characterization of the affected genes is leading to a greater understanding of the causal role such translocations play in malignant transformation. A common theme that is emerging from the study of tumor-associated translocations is the generation of chimeric genes that, when expressed, frequently retain many of the functional properties of the wild-type genes from which they originated. Sarcomas, in particular, harbor chimeric genes that are often derived from transcription factors, suggesting that the resulting chimeric transcription factors contribute to tumorigenesis. The tumor-specific expression of the fusion proteins make them likely candidates for tumor-associated antigens (TAA) and are thus of interest in the development of new therapies. The focus of this review will be on the translocation events associated with Ewing's sarcomas/PNETs (ES), alveolar rhabdomyosarcoma (ARMS), malignant melanoma of soft parts (MMSP) (clear cell sarcoma), desmoplastic small round cell tumor (DSRCT), synovial sarcoma (SS), and liposarcoma (LS), and the potential for targeting the resulting chimeric proteins in novel immunotherapies.
 ...
PMID:Molecular alterations in pediatric sarcomas: potential targets for immunotherapy. 1852 Dec 38

The recognition that genetic defects identify some pediatric solid tumors and may represent prognostic markers has provided cytologists with an extra tool for dealing with such tumors. Using some entities as archetypes, we discuss the importance of the association of fine needle biopsy and genetics, in the diagnosis, prognosis, and therapy selection of solid pediatric tumors. Immunocytochemistry is important to differentiate neuroblastoma, PNET/Ewing sarcoma, alveolar rhabdomyosarcoma, lymphoma, and desmoplastic small round cell tumor. Despite its usefulness in many cases, it is not conclusive and some of the aforementioned tumors even share the expression of some antibodies. The detection of specific diagnostic translocations will thus provide additional information and allows a precise cytologic diagnosis. Kidney tumors are also frequent in children. Although no genetic abnormalities have been identified so far in nephroblastoma, other kidney tumors, such as mesoblastic nephroma, whose cytology pattern can masquerade nephroblastoma, are also characterized by specific translocations. Kidney tumors in children have also been associated recently with typical genetic alterations such as Xp11.2RCC. Concerning prognosis and therapy selection, neuroblastoma is a sort of paradigm. The identification of MYCN oncogene status as an independent prognostic factor is determinant, not only in the assessment of clinical evolution, but also in the identification of risk groups, and consequently in the appropriate therapy selection. Cytopathologists should be aware of the genetic alterations characterizing pediatric tumors in order to collect extra material to perform cytogenetics, FISH, PCR, and Southern blotting, to achieve the correct identification of such genetic changes.
 ...
PMID:Fine needle biopsy and genetics, two allied weapons in the diagnosis, prognosis, and target therapeutics of solid pediatric tumors. 1867 57

Nestin is an intermediate filament that was first identified in neuroepithelial stem cells. During embryogenesis, nestin is expressed in a number of cell types, including neural crest cells and developing myocytes. We have recently shown that nestin is expressed in human podocytes and nephrogenic blastema. We sought to determine the utility of nestin expression in distinguishing pediatric tumors in the region of the kidney. Cases studied included Wilms tumor (n=24), nephroblastomatosis (n=6), renal cell carcinoma (n=19), renal clear cell sarcoma (n=9), mesoblastic nephroma (n=9), neuroblastoma (n=11), malignant rhabdoid tumor (n=8 including 2 renal), Ewing sarcoma (n=16 including 1 renal, 7 soft tissue, and 8 bone), intra-abdominal desmoplastic small round cell tumor (n=5), and rhabdomyosarcoma (n=8, all extrarenal). Nestin expression was assessed semiquantitatively by immunohistochemistry and then scored as positive or negative. All cases of Wilms tumor, mesoblastic nephroma, rhabdomyosarcoma, neuroblastoma, malignant rhabdoid tumor, and desmoplastic small round cell tumor were nestin-positive. In Wilms tumor and nephroblastomatosis, nestin was expressed in blastema and glomeruloid structures, but not tubules. In neuroblastoma, positive staining was detected regardless of degree of differentiation. The majority of Ewing sarcoma and renal cell carcinoma were negative. Expression in clear cell sarcoma was variable with 5 cases negative and 4 cases positive. Thus, nestin is a highly sensitive, but nonspecific, marker of Wilms tumor in the context of tumors that may occur in or around the kidney. Nestin reactivity may be useful in differentiating Wilms tumor from Ewing sarcoma, renal cell carcinoma, or nestin-negative clear cell sarcoma.
 ...
PMID:Diagnostic utility of nestin expression in pediatric tumors in the region of the kidney. 1941 21

The pathologist forms a very important part of the clinical team in the management of pediatric intra-abdominal masses in giving a rapid, accurate diagnosis for these potentially curable tumors. Fine-needle aspiration cytology (FNAC) is an invaluable tool in this regard when interpreted with clinicoradiologic parameters. With this in mind, we decided to evaluate the role of FNAC in pediatric abdominal masses in our institution. A total of 83 of 105 FNAC accessioned in the pathology department over 5 years (2003-2007) were studied. These included only cases where a diagnosis could be offered on cytology. Detailed clinicoradiological features were obtained from hospital records. Cytomorphological features examined included cellularity, architectural pattern, background, key cellular details. Immunocytochemistry were done where necessary. Lesions diagnosed on FNAC included Wilms' tumor (19), lymphoma (10), neuroblastoma (6), hepatoblastoma (5), PNET (5), rhabdomyosarcoma (2), DSRCT (2), germ cell tumor (6), and miscellaneous tumors (7). Definite diagnosis could be offered on cytomorphology in 74.7% (62) cases, while in 25.3% (21) cases only a diagnosis of round cell tumor could be offered. Concordance with final histopathology and biochemical parameters was subsequently obtained in 79/83 (95.5%) of cases. A clinically relevant classification is possible on FNAC in pediatric abdominal tumors when interpreted with clinicoradiologic parameters. This obviates the need for a more time-consuming biopsy procedure in critical situations and in stage II nephroblastoma where it is contraindicated.
 ...
PMID:Evaluation of pediatric abdominal masses by fine-needle aspiration cytology: a clinicoradiologic approach. 1968 67

Retinoblastoma is a relatively rare malignant pediatric tumor accounting for approximately 3% of childhood cancers and 1% of all cancer deaths in children under 15 years of age. During the clinical course of the disease, a metastasis usually occurs within the first year of diagnosis and is seen in 2% of retinoblastoma patients. Metastases to the intracranial region are common and account for approximately 50% of the metastatic cases. Metastasis to the soft tissue is very rare. Herein, we report a case of metastatic retinoblastoma presenting as a left shoulder soft tissue mass in a 14-year-old female with a 14-year history of familial bilateral retinoblastoma status post radiation therapy. In our case, the FNA cytology shows some features of the small round blue cell tumor group with inconspicuous Flexner-Wintersteiner or Homer-Right rosette formation. The unusual clinical presentation and morphology give rise to a diagnostic dilemma, with the differential diagnosis centering on the small round blue cell tumors such as lymphoma, rhabdomyosarcoma, nephroblastoma (Wilms' tumor), Ewing's sarcoma/PNET, and desmoplastic small round cell tumor. It also prompts concern for the development of a second primary tumor. The purpose of our study is to discuss the FNA cytology of metastatic retinoblastoma, its differential diagnoses, and the utility of immunohistochemistry. An accurate diagnosis is imperative due to the differences in prognosis and treatment implications for the various diseases.
 ...
PMID:Metastatic retinoblastoma presenting as a left shoulder soft tissue mass: FNA findings and review of the literature. 1993 45

Melanotic neuroectodermal tumor of infancy (MNTI) is a rare and diagnostically challenging neoplasm typically presenting in the bones of the maxilla, skull, or mandible. Only 6 of approximately 357 reported cases have involved the subcutis. We describe a case of MNTI presenting as a palpable, subcutaneous, thigh mass in a 5-month-old girl. By ultrasound, the mass was round with well-defined borders, minimal vascularity, and heterogeneous echogenicity. Microscopically, the tumor consisted of nested foci of primitive-appearing small round blue cells with an increased nuclear to cytoplasmic ratio, stippled chromatin, and occasional mitotic figures. A larger and more epithelioid second cell population exhibited eosinophilic cytoplasm and sparse pigmented granules. The background stroma was fibrous and densely sclerotic. The differential diagnosis of soft tissue MNTI can include melanoma, neuroblastoma, rhabdomyosarcoma, desmoplastic small round cell tumor, and other pediatric "small round cell" neoplasms. The tumor had the characteristic immunophenotype of MNTI: cytokeratin+, HMB-45+, neuron-specific enolase+, and synaptophysin+. MNTI should be considered in the differential diagnosis of pigmented soft tissue lesions in children. Our patient remains disease-free 40 months after excision, although these tumors can locally recur (10%-20%) and rarely metastasize.
 ...
PMID:Melanotic neuroectodermal tumor of infancy presenting in the subcutaneous soft tissue of the thigh. 2001 Apr 3

We evaluated the feasibility and usefulness of reverse transcriptase-polymerase chain reaction (RT-PCR) on fine-needle aspirates for categorization of small blue round cell tumors (SBRCTs). A total of 51 cases, including 25 Ewing sarcoma/peripheral primitive neuroectodermal tumors (PNETs), 11 rhabdomyosarcomas, 13 neuroblastomas, and 2 desmoplastic small round cell tumors (DSRCTs) were analyzed. The detection of the EWS-FLI1 (20/25) and EWS-ERG (4/25) fusion transcripts resolved 24 of 25 cases of Ewing sarcoma/PNET. The PAX3/7-FKHR fusion transcript was detected in 2 of 4 cases of alveolar rhabdomyosarcoma and the EWS-WT1 transcript in both cases of DSRCT. Tyrosine hydroxylase and 3,4-dihydroxyphenylalanine (dopa) decarboxylase transcripts were demonstrated in 10 of 13 cases of neuroblastoma. In comparison, immunocytochemical analysis resolved 19 (76%) of 25 Ewing sarcomas, 9 (82%) of 11 rhabdomyosarcomas, 6 (46%) of 13 neuroblastomas, and 1 (50%) of 2 DSRCTs. Overall, RT-PCR resolved 38 (86%) of 44 vs 35 (69%) of 51 cases by immunocytochemical analysis. RT-PCR is easily applied to fine-needle aspirates of SBRCT and greatly facilitates accurate tumor typing.
 ...
PMID:Reverse transcriptase-polymerase chain reaction as an ancillary molecular technique in the diagnosis of small blue round cell tumors by fine-needle aspiration cytology. 2023 17

Malignant small round cell tumors are characterised by small, round, relatively undifferentiated cells. They generally include Ewing's sarcoma, peripheral neuroectodermal tumor, rhabdomyosarcoma, synovial sarcoma, non-Hodgkin's lymphoma, retinoblastoma, neuroblastoma, hepatoblastoma, and nephroblastoma or Wilms' tumor. Other differential diagnoses of small round cell tumors include small cell osteogenic sarcoma, undifferentiated hepatoblastoma, granulocytic sarcoma, and intraabdominal desmoplastic small round cell tumor. Differential diagnosis of small round cell tumors is particularly difficult due to their undifferentiated or primitive character. Tumors that show good differentiation are generally easy to diagnose, but when a tumor is poorly differentiated, identification of the diagnostic, morphological features is difficult and therefore, no definitive diagnosis may be possible. As seen in several study reports, fine needle aspiration cytology (FNAC) has become an important modality of diagnosis for these tumors. The technique yields adequate numbers of dissociated, viable cells, making it ideally suitable for ancillary techniques. Typically, a multimodal approach is employed and the principal ancillary techniques that have been found to be useful in classification are immunohistochemistry and immunophenotyping by flow cytometry, reverse transcriptase polymerase chain reaction (RT-PCR), fluorescence in situ hybridization (FISH), and electron microscopy. However, the recent characterization of chromosomal breakpoints and the corresponding genes involved in malignant small round cell tumors means that it is possible to use molecular genetic approaches for detection.
 ...
PMID:Malignant small round cell tumors. 2193 41

Sirtuin, silent mating-type information regulation 2 homolog Saccharomyces cerevisiae 1 (SIRT1), is a protein that has been implicated in multiple mammalian functions including cell aging, stress resistance, and differentiation. SIRT1 has also been shown to be involved in multiple tumors. In addition, new pharmacotherapies have recently been approved that target SIRT1. The purpose of this study was to use immunohistochemistry to characterize SIRT1 protein expression in human soft tissue neoplasms with the hopes of finding new diagnostic and therapeutic modalities. SIRT1 immunoreactivity was reviewed in a series of 164 soft tissue tumors including alveolar soft part sarcoma, angiomyolipoma, clear cell sarcoma, desmoid/fibromatosis, desmoplastic small round cell tumor, Ewing sarcoma, gastrointestinal stromal tumor, glomus tumor, leiomyoma, leiomyosarcoma, lipoma, liposarcoma, malignant peripheral nerve sheath tumor, nodular fasciitis, osteosarcoma, rhabdomyosarcoma, schwannoma, solitary fibrous tumor, synovial sarcoma, undifferentiated pleomorphic sarcoma, and Wilms tumor. In addition, numerous benign tissues were tested for SIRT1 reactivity. In nonneoplastic tissue, strong cytoplasmic SIRT1 reactivity was observed in all prostate stroma, smooth muscle, and striated muscle. A similar pattern of cytoplasmic SIRT1 expression was observed in soft tissue neoplasms with myoid differentiation, namely, angiomyolipoma (100%), glomus tumor (100%), leiomyoma (90%), leiomyosarcoma (76.5%), and rhabdomyosarcoma (87%). The other lesions examined were negative. Although the physiologic role of SIRT1 remains to be clarified in myoid tissues and neoplasms differentiating along these lines, this observation points to a potential role for this marker in diagnostic immunohistochemistry. Furthermore, the recent emergence of drugs capable of selectively inhibiting SIRT1 raises the possibility of a potential application for targeted therapy. Additional studies are necessary to further characterise the role of SIRT1 in myoid tissues and neoplasms.
 ...
PMID:Sirtuin 1 (SIRT1): a potential immunohistochemical marker and therapeutic target in soft tissue neoplasms with myoid differentiation. 2333 67


<< Previous 1 2 3 4 Next >>