Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.7.7.49 (reverse transcriptase)
 31,746 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 33-year-old female presented with a rare synovial sarcoma manifesting as a painful 12 x 15 mm tumor in the median palmar carpus. Preoperative neurological examination detected only radiating spontaneous pain in her right radial palm and decreased right grasping power. Magnetic resonance (MR) imaging confirmed the presence of the tumor. The preoperative diagnosis was schwannoma originating from the right median nerve. Subcapsular removal of the tumor was performed for preservation of the nerve function. However, postoperative histological and immunohistochemical studies suggested synovial sarcoma originating from the median nerve. No systemic metastasis was detected and the residual tumor capsule was totally removed. Local radiation therapy of 40 Gy, 2 Gy per day, was administered. Fourteen months later, local recurrence was detected on MR imaging. Total removal of the recurrent tumor was performed. Synovial sarcoma was finally diagnosed by the identification of SYT-SSX1 fusion gene transcripts using reverse transcriptase-polymerase chain reaction with a frozen tumor tissue sample.
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PMID:Intraneural synovial sarcoma originating from the median nerve. 1829 77

Patients with chronic myelogenous leukemia have a t(9;22)(q34;q11.2) or variant translocation that results in a BCR-ABL fusion gene. BCR-ABL detection by quantitative reverse transcriptase-polymerase chain reaction (RT-PCR) is the standard practice for monitoring residual disease in patients with chronic myelogenous leukemia who receive tyrosine kinase inhibitor therapies. In this study, we describe a patient who tested positive for the BCR-ABL translocation by fluorescence in situ hybridization and cytogenetic analysis but tested negative by qRT-PCR molecular analysis at the time of diagnosis. Further PCR analysis and DNA sequencing with alternative primer sets demonstrated the presence of an e14a3 (also known as b3a3) BCR-ABL fusion. The e14a3 fusion is rare, but may be underreported as a result of many commercially available and laboratory-developed primer sets that fail to detect breakpoints in the ABL gene that are downstream of intron 1. For this patient, if the qRT-PCR assay had been used to monitor disease response/progression after treatment and not in conjunction with fluorescence in situ hybridization or cytogenetics at the time of diagnosis, the negative result would have been misinterpreted as molecular remission.
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PMID:A rare e14a3 (b3a3) BCR-ABL fusion transcript in chronic myeloid leukemia: diagnostic challenges in clinical laboratory practice. 1949 89

Indeterminate fibrohistiocytic lesions of the skin share histological and immunohistochemical features of both benign fibrous histiocytoma/dermatofibroma and dermatofibrosarcoma protuberans (DFSP). Unlike dermatofibroma, DFSP harbors recurrent genetic aberrations resulting in the fusion of COL1A1 on chromosome 17 and PDGFB on chromosome 22. Because indeterminate fibrohistiocytic lesions share some features with DFSP, they were evaluated for the possible presence of COL1A1-PDGFB chimeric transcripts. Twelve formalin-fixed paraffin-embedded cases were examined for COL1A1-PDGFB chimeric transcripts using a previously validated sensitive multiplex reverse transcriptase-polymerase chain reaction assay. The median patient age was 52.5 years (33-70 years) with 9 females and 3 males. The most common site was the extremities (n = 8) followed by the trunk (n = 2) and the head and neck region (n = 2). All demonstrated the expected reactivity for both CD34 and factor XIIIa, and the majority focally infiltrated into subcutaneous fat. Of the 6 patients with follow-up, 2 had residual tumor excised, but no patient developed a recurrence. None of the tumors harbored COL1A1-PDGFB fusion transcripts identified by reverse transcriptase-polymerase chain reaction. Although indeterminate fibrohistiocytic lesions share some features with DFSP, the lack of COL1A1-PDGFB chimeric transcripts suggests that they are distinct entities.
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PMID:COL1A1:PDGFB chimeric transcripts are not present in indeterminate fibrohistiocytic lesions of the skin. 1994 Jul 48

Despite the increasing knowledge of the genomic landscape of acute myeloid leukemia (AML), prediction merely based on genetics fails to anticipate outcome, presumably due to the heterogeneous composition of the leukemic clone determining complex interactions between different genetic abnormalities. Therefore, the introduction of a post-treatment biomarker exploring the quality of response to therapy such as assessment of measurable (previously minimal) residual disease (MRD) may lead to refinements of the prognostic assessment in AML. In this view, the European LeukemiaNet has recently endorsed the achievement of a MRD negative morphologic complete remission as a purpose the treatment. Techniques like multiparametric flow cytometry and reverse transcriptase-quantitative polymerase chain reaction have reached a level of sensitivity and specificity that make them ready for introduction in clinical practice. In the present review, we will give an update on the efforts in harmonization and/or standardization of MRD assessment in AML, focusing on the newest acquisitions in the clinical applications of MRD, and considering issues like relationship of MRD with leukemic stem cells or MRD assessment in peripheral blood.
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PMID:The emerging role of measurable residual disease detection in AML in morphologic remission. 3092 88

Minimal residual disease (MRD) monitoring has a strong prognostic value in childhood lymphoblastic leukemia (ALL) and is currently utilized in all major pediatric ALL protocols. MRD monitoring is done by multiparameter flow cytometry, IG/TCR quantitative PCR or reverse transcriptase quantitative PCR of leukemic fusion transcripts providing a reliable measurement of treatment response. However, occasionally bone marrow (BM) aspirates may not yield representative material or be misinterpreted due to treatment-induced changes in MRD marker profile, undetected subclones at diagnosis, contamination with peripheral blood or cell adhesion and stroma cell interactions posing a risk for underestimating MRD levels and misclassifying resistant disease that may be detected by traditional BM morphology methods, immunohistochemistry, karyotyping and FISH. We present four cases with high MRD levels where MRD monitoring failed to provide the correct stratification information. Through these cases, we discuss the continued need to consider all available information including BM smears, touch imprints and trephine biopsy preparations not only at diagnosis but throughout remission monitoring in pediatric ALL.
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PMID:Minimal residual disease monitoring cannot fully replace bone marrow morphology in assessing disease status in pediatric acute lymphoblastic leukemia. 3210 63


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