Oncogene amplification resulting in aberrant expression, although common in solid tumors, is rare in acute myeloid leukemia (AML) and is mostly associated with amplification of MYC, RUNX1, and MLL genes. Retinoic acid receptor alpha (RARA) and other target sequences at 17p11.2 often represent the amplicons expressed in breast cancer, not in AML. We present a unique case of a 59-year-old female with a history of breast cancer, now presenting with pancytopenia and bilateral infiltration with effusion in nodules of the right upper lobe of the lung. She was diagnosed with AML-M5. Chromosome analysis demonstrated a hypodiploid clone with complex numerical/structural abnormalities including 5q deletion, monosomy 7, as well as structurally rearranged chromosome 11 and several marker chromosomes. Fluorescence in situ hybridization (FISH) analysis showed amplification of RARA, loss of 7q, monosomy 7, loss of DEK (6p23), and additional copies of NUP214 (9q34) and MLL (11q23). Additional FISH studies showed both ERBB2 and TOP2A genes, which were co-amplified on one of the marker chromosomes. The follow-up bone marrow did not yield any metaphases, but FISH was normal for all probes, including RARA. After a short remission, the patient relapsed and showed clonal evolution. Additional case reports are necessary to assess whether RARA amplification in hematologic malignancies serves as an independent prognostic factor.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.cancergencyto.2010.06.003 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Genomic characteristics of PD-L1-Induced resistance to EGFR-TKIs in lung adenocarcinoma.
Future Oncol
December 2024
Department of Cancer Center, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Background: The co-occurrence of PD-L1 positivity and EGFR mutations in advanced NSCLC often limits EGFR-TKIs effectiveness, with unclear mechanisms.
Methods: We analyzed 103 treatment-naive EGFR-mutant LUAD patients from three centers, assessing PD-L1 expression and performing NGS analysis.
Results: SMO mutations and MET amplification were significantly higher in the PD-L1 ≥ 1% group versus PD-L1 < 1% group (SMO: 8% vs.
Acute promyelocytic leukemia (APL), distinguished by the presence of PML-RARA fusion transcript, is a medical emergency due to its high early death rate, which is preventable when diagnosed early. Current diagnostic methods are precise and reliable but are time-intensive, require sophisticated instruments and analytical expertise. This study has Redefined APL IDentification by CRISPR system (RAPID-CRISPR) to rapidly (<3hrs) detect PML-RARA.
View Article and Find Full Text PDFPutative mechanisms of primary resistance to EGFR-targeted therapies: A retrospective study.
Lung Cancer
November 2024
Department of Oncology, Yellow River Sanmenxia Affliated Hospital of Henan University of Science and Technology, Sanmenxia, PR China. Electronic address:
Backgrounds: Advanced lung adenocarcinoma (LUAD) patient with EGFR mutations often experience resistance to first-line epidermal growth factor tyrosine kinase inhibitors (EGFR-TKIs) therapy. Nonetheless, the mechanism and biomarkers of primary resistance remain unclear. Further exploration of independent prognostic factors will help clinicians identify patients who may not respond to EGFR-TKIs and select appropriate treatment strategies.
View Article and Find Full Text PDFPhospholipase Cδ-4 (PLCδ4) Acts as a Nuclear Player to Influence Cyclin B Expression in the Embryonal Rhabdomyosarcoma Cell Lines RD and A204.
Biomolecules
September 2024
Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, 40126 Bologna, Italy.
Rhabdomyosarcoma (RMS), the most common form of sarcoma typical of pediatric age, arises from the malignant transformation of the mesenchymal precursors that fail to differentiate into skeletal muscle cells. Here, we investigated whether the protein phospholipase C δ4 (PLCδ4), a member of the PLC family involved in proliferation and senescence mechanisms of mesenchymal stromal stem cells, may play a role in RMS. Our molecular and morpho-functional data reveal that PLCδ4 is highly expressed in the fusion-negative, p53-positive, SMARCB1 heterozygous mutated embryonal RMS (ERMS) cell line A204, while it is poorly expressed in the ERMS cell lines RD (fusion-negative, MYC amplification, N-RAS (Q61H), homozygous mutated p53) and Hs729 (homozygous mutated p53) and the alveolar rhabdosarcoma (ARMS) cell line SJCRH30 (RH30; fusion positive, heterozygous mutated RARA, polyheterozygous mutated p53).
View Article and Find Full Text PDFMolecular Analysis of Persistent and Recurrent Barrett's Esophagus in the Setting of Endoscopic Therapy.
Clin Transl Gastroenterol
August 2024
Department of Pathology, University of California San Francisco, San Francisco, California, USA.
Introduction: Early neoplastic progression of Barrett's esophagus (BE) is often treated with endoscopic therapy. Although effective, some patients are refractory to therapy or recur after apparent eradication of the BE. The goal of this study was to determine whether genomic alterations within the treated BE may be associated with persistent or recurrent disease.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!