Panhandle PCR Approaches to Cloning MLL Genomic Breakpoint Junctions and Fusion Transcript Sequences

2009 ◽  
pp. 85-114 ◽  
Author(s):  
Blaine W. Robinson ◽  
Carolyn A. Felix
Keyword(s):  
Fusion Transcript

scholarly journals Nanopore sequencing of single-cell transcriptomes with scCOLOR-seq

2021 ◽  
Author(s):  
Martin Philpott ◽  
Jonathan Watson ◽  
Anjan Thakurta ◽  
Tom Brown ◽  
Tom Brown ◽  
...  
Keyword(s):  
Single Cell ◽  
Error Detection ◽  
Single Cells ◽  
Fusion Transcript ◽  
Building Blocks ◽  
Myeloma Cell ◽  
Nanopore Sequencing ◽  
Long Read ◽  
Unique Molecular Identifier ◽  
Transcript Detection

AbstractHere we describe single-cell corrected long-read sequencing (scCOLOR-seq), which enables error correction of barcode and unique molecular identifier oligonucleotide sequences and permits standalone cDNA nanopore sequencing of single cells. Barcodes and unique molecular identifiers are synthesized using dimeric nucleotide building blocks that allow error detection. We illustrate the use of the method for evaluating barcode assignment accuracy, differential isoform usage in myeloma cell lines, and fusion transcript detection in a sarcoma cell line.

scholarly journals A Comprehensive Review on Solitary Fibrous Tumor: New Insights for New Horizons

Cancers ◽  
2021 ◽  
Vol 13 (12) ◽  
pp. 2913
Author(s):  
Javier Martin-Broto ◽  
Jose L. Mondaza-Hernandez ◽  
David S. Moura ◽  
Nadia Hindi
Keyword(s):  
Solitary Fibrous Tumor ◽  
Fusion Gene ◽  
Current Knowledge ◽  
Fusion Transcript ◽  
Chemotherapeutic Agents ◽  
Comprehensive Review ◽  
Molecular Events ◽  
In Series ◽  
Prospective Phase ◽  
Fibrous Tumor

Solitary fibrous tumor (SFT) is a rare mesenchymal, ubiquitous tumor, with an incidence of 1 new case/million people/year. In the 2020 WHO classification, risk stratification models were recommended as a better tool to determine prognosis in SFT, to the detriment of “typical” or “malignant” classic terms. The risk for metastasis is up to 35–45%, or even greater, in series with a longer follow-up. Over the last few decades, advances in immunohistochemistry and molecular diagnostics identified STAT6 nuclear protein expression and the NAB2–STAT6 fusion gene as more precise tools for SFT diagnosis. Recent evidence taken from retrospective series and from two prospective phase II clinical trials showed that antiangiogenics are active and their sequential use from first line should be considered, except for dedifferentiated SFT for which chemotherapy is the best option. Since the fusion transcript driver’s first description in 2013, new insights have been brought on key molecular events in SFT. This comprehensive review mainly focuses on the superior efficacy of antiangiogenics over chemotherapeutic agents in SFT, provides the current knowledge of key molecules that could co-drive the SFT behavior, and suggests new target candidates that deserve to be explored in preclinical and clinical research in SFT.

A rare e9a1 BCR-ABL1 fusion transcript in chronic myeloid leukemia

2016 ◽  
Vol 39 (1) ◽  
pp. e14-e16
Author(s):  
Y. Miao ◽  
Y. Huang ◽  
C. Feng ◽  
L. Jiang ◽  
H. Xu ◽  
...  
Keyword(s):  
Chronic Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Fusion Transcript

Intramuscular Tenosynovial Giant Cell Tumor Harboring a Novel CSF1-CD96 Fusion Transcript

2021 ◽  
pp. 106689692110498
Author(s):  
Haider Mejbel ◽  
Gene P. Siegal ◽  
Shi Wei
Keyword(s):  
Giant Cell Tumor ◽  
Giant Cell ◽  
Gene Rearrangement ◽  
Fusion Transcript ◽  
Cell Tumor ◽  
Molecular Profile ◽  
Small Subset ◽  
Fusion Partner ◽  
Giant Cell Tumors ◽  
Tenosynovial Giant Cell Tumor

Tenosynovial giant cell tumors typically arise in the synovium of joints, bursae, or tendon sheaths. They may occur in an intra- or extra-articular location and can be divided into localized and diffuse types. The neoplastic nature of the lesion has been supported by a recurrent CSF1 gene rearrangement in a small subset of lesional cells, of which the most common fusion partner is COL6A3. Herein, we report a case of intramuscular localized tenosynovial giant cell tumor harboring a novel CSF1-CD96 fusion transcript, thus expanding the molecular profile of this tumor.

Unique Case of Myeloproliferative Neoplasm with Two Rare Clonal Abnormalities: Rare JAK2 Exon 12 Mutation and Rare e14a3 (b3a3) BCR/ABL Fusion Transcript

2018 ◽  
Vol 141 (1) ◽  
pp. 23-27 ◽  
Author(s):  
Mahesh Swaminathan ◽  
Keyur P. Patel ◽  
Julie Huynh-Lu ◽  
Guilin Tang ◽  
Zhuang Zuo ◽  
...  
Keyword(s):  
Myeloid Leukemia ◽  
Myeloproliferative Neoplasms ◽  
Myeloproliferative Neoplasm ◽  
Fusion Transcript ◽  
Insertion Mutation ◽  
Unique Case ◽  
Laboratory Features ◽  
Ph Chromosome ◽  
Disease Entities ◽  
Clonal Abnormalities

Myeloproliferative neoplasms (MPNs) are clonal disorders divided into Philadelphia (Ph) chromosome-positive chronic myeloid leukemia (CML) or Ph chromosome-negative MPNs. Co-occurrence of these disease entities is very rare and typically involves presence of common p190 or p210 BCR/ABL fusion transcript (responsible for CML) along with JAK2V617F mutation (most common driver mutation in Ph-negative MPNs). Because of the rarity of such cases, it is not clear if the outcomes are any different in these patients. In this article, we report a unique patient with polycythemia vera driven by a rare complex in-frame deletion-insertion mutation in JAK2 exon 12, and CML driven by uncommon p210 e14a3 (b3a3) BCR/ABL fusion transcript. We describe clinical and laboratory features, bone marrow pathology, treatment, and overall outcome.

Urine TMPRSS2:ERG fusion transcript integrated with PCA3 score, genotyping, and biological features are correlated to the results of prostatic biopsies in men at risk of prostate cancer

The Prostate ◽  
2012 ◽  
Vol 73 (3) ◽  
pp. 242-249 ◽  
Author(s):  
Jean-Nicolas Cornu ◽  
Géraldine Cancel-Tassin ◽  
Christophe Egrot ◽  
Cécile Gaffory ◽  
François Haab ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
At Risk ◽  
Fusion Transcript ◽  
Biological Features

T(11;18)(q21;q21) is associated with advanced mucosa-associated lymphoid tissue lymphoma that expresses nuclear BCL10

Blood ◽  
2001 ◽  
Vol 98 (4) ◽  
pp. 1182-1187 ◽  
Author(s):  
Hongxiang Liu ◽  
Hongtao Ye ◽  
Ahmet Dogan ◽  
Renzo Ranaldi ◽  
Rifat A. Hamoudi ◽  
...  
Keyword(s):  
Malt Lymphoma ◽  
Lymphoid Tissue ◽  
Fusion Transcript ◽  
Low Grade ◽  
Chain Reaction ◽  
Nuclear Expression ◽  
Molecular Events ◽  
Multistep Process ◽  
Polymerase Chain ◽  
H Pylori

The development of gastric mucosa-associated lymphoid tissue (MALT) lymphoma is a multistep process and can be clinico-pathologically divided into Helicobacter pylori-associated gastritis, low-grade tumors, and high-grade tumors. The molecular events underlying this progression are largely unknown. However, identification of the genes involved in MALT lymphoma-specific t(11;18)(q21;q21) and t(1;14)(p22;q32) has provided fresh insights into the pathogenesis of this disease. T(11;18)(q21;q21) results in a chimeric transcript between the API2 and theMALT1 genes, whereas t(1;14) (p22;q32) causes aberrant nuclear BCL10 expression. Significantly, nuclear BCL10 expression also occurs frequently in MALT lymphomas without t(1;14)(p22;q32), suggesting an important role for BCL10 in lymphoma development. Thirty-three cases of H pylori gastritis, 72 MALT lymphomas, and 11 mucosal diffuse large B-cell lymphomas (DLBCL) were screened for t(11;18)(q21;q21) by reverse transcription–polymerase chain reaction followed by sequencing. BCL10 expression in lymphoma cases was examined by immunohistochemistry. The API2–MALT1 fusion transcript was not detected in H pylorigastritis and mucosal DLBCL but was found in 25 of 72 (35%) MALT lymphomas of various sites. Nuclear BCL10 expression was seen in 28 of 53 (53%) of MALT lymphomas. Of the gastric cases, the largest group studied, the frequency of both t(11;18)(q21;q21) and nuclear BCL10 expression was significantly higher in tumors that showed dissemination to local lymph nodes or distal sites (14 of 18 = 78% and 14 of 15 = 93%, respectively) than those confined to the stomach (3 of 29 = 10% and 10 of 26 = 38%). Furthermore, t(11;18)(q21;q21) closely correlated with BCL10 nuclear expression. These results indicate that both t(11;18)(q21;q21) and BCL10 nuclear expression are associated with advanced MALT lymphoma and that their oncogenic activities may be related to each other.

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