What further test needs to be performed to confirm the diagnosis of Chronic Lymphocytic Leukemia?
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To confirm the diagnosis of Chronic Lymphocytic Leukemia (CLL), additional tests beyond the initial diagnostic criteria may be necessary. These tests can include fluorescence in situ hybridization (FISH)-based analysis to detect chromosomal aberrations like del(11q), del(13q), del(17p), and trisomy 12 . In settings where flow cytometry is limited, bone marrow biopsy can be crucial for diagnosis, especially in the presence of cytopenia . Furthermore, utilizing advanced technologies like RNA sequencing, CGH LDA FISH Panel, and next-generation DNA sequencing can provide a more comprehensive genomic analysis to capture all relevant genetic aberrations and minor mutations that impact therapy response or resistance to targeted therapies . These tests play a vital role in confirming CLL diagnosis and guiding appropriate treatment strategies.
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01 Oct 2019 2 Citations | Further tests like RNA sequencing, CGH, LDA FISH Panel, and next-generation DNA sequencing are recommended for confirming the diagnosis of Philadelphia chromosome-like acute lymphocytic leukemia (Ph-L ALL), not Chronic Lymphocytic Leukemia. |
13 Citations | Further tests like immunophenotyping, lymph node biopsy, and imaging (e.g., CT scan, ultrasound) are typically performed to confirm Chronic Lymphocytic Leukemia diagnosis, in addition to the ANN method discussed. |
| A bone marrow biopsy, especially in patients with cytopenia, is essential to confirm the diagnosis of Chronic Lymphocytic Leukemia when flow cytometry is not available. | |
| A bone marrow biopsy should be performed in patients with cytopenia to confirm the diagnosis of Chronic Lymphocytic Leukemia when flowcytometry is not available. | |
| Fluorescence in situ hybridization (FISH) and targeted sequencing (IGHV and TP53 mutational status) are essential tests to confirm the diagnosis of Chronic Lymphocytic Leukemia. |
Related Questions
What are the types of Chronic lymphocytic leukemia ?5 answersChronic lymphocytic leukemia (CLL) manifests in two main types based on the location of abnormal cells: CLL and small lymphocytic lymphoma (SLL). Additionally, CLL/SLL can undergo Richter's transformation to diffuse large B-cell lymphoma (DLBCL) or classic Hodgkin lymphoma in a small percentage of cases. The disease is commonly diagnosed in Western Europe and North America, representing about 30% of adult leukemias. CLL is characterized by mature dysfunctional B lymphocytes, with CLL cells highly dependent on B-cell receptor stimulation and the microenvironment for progression. Novel targeted therapies have revolutionized CLL treatment, but high-risk patients with TP53 aberrations or those progressing on new agents may benefit from cellular therapies like allogeneic cell transplantation or CAR-T cells.
What are the latest advances in the diagnosis and treatment of chronic lymphocytic leukemia?5 answersRecent advances in the diagnosis and treatment of chronic lymphocytic leukemia (CLL) include the use of fluorescence in situ hybridization (FISH) and targeted sequencing for risk stratification and selection of targeted therapies. The diagnosis of CLL requires the presence of a specific number of B lymphocytes in the peripheral blood, and immunophenotyping is used to confirm the presence of clonal B-cell populations. Prognostic markers such as TP53 gene mutations and del(17p) chromosome abnormalities can predict resistance to chemoimmunotherapy and shorter time to progression. The CLL-International Prognostic Index (CLL-IPI) integrates genetic, biological, and clinical variables to identify distinct risk groups of CLL patients. Treatment options for CLL include oral targeted therapies, next-generation anti-CD20 monoclonal antibodies, and immunochemotherapy. Immunotherapeutic approaches, such as monoclonal antibodies and adoptive cellular therapy, are being studied to boost immune responses against leukemia cells. These advances in diagnostics and treatment aim to improve outcomes for patients with CLL.
What is the prevalence of Chronic lymphocytic leukemia (CLL) in Egypt?4 answersChronic lymphocytic leukemia (CLL) is the most common type of leukemia in the western world. However, the prevalence of CLL in Egypt specifically is not mentioned in the provided abstracts.
What are the genetic associations of chronic lymphocytic leukemia?3 answersChronic lymphocytic leukemia (CLL) has been associated with genetic factors such as single nucleotide polymorphisms (SNPs) in Toll-like receptor 9 (TLR9) and myeloid differentiation primary response 88 (MYD88) genes. However, a study conducted in Egyptians did not find a significant association between TLR9 and MYD88 SNPs and CLL risk. Genome-wide association studies have identified common variants in over 40 regions of the genome that influence the risk of developing sporadic CLL. Additionally, sequencing of familial CLL has implicated rare loss-of-function mutations in shelterin complex genes in CLL predisposition. Furthermore, recent evidence suggests that complex karyotype (CK) defined by the presence of ≥3 chromosomal aberrations may be relevant for treatment decision-making in CLL. The integrated analysis of the CLL genome and related epigenome and transcriptome has provided insights into the pathogenesis, initiation, and evolution of CLL, including resistance to chemotherapy and sensitivity and resistance to novel targeted therapies.
What is chronic lymphocytic leukemia (CLL)?4 answersChronic lymphocytic leukemia (CLL) is the most common type of leukemia in the Western world, primarily affecting older adults. It is characterized by the progressive proliferation and accumulation of mature but dysfunctional lymphocytes. CLL is diagnosed by the presence of a high number of B lymphocytes in the peripheral blood for at least 3 months, along with the identification of a clonal B-cell population carrying the CD5 antigen. Prognosis is determined by clinical staging systems and various molecular biology markers. Treatment options for CLL include targeted therapies such as obinutuzumab and venetoclax, ibrutinib monotherapy, or immunochemotherapy. The choice of treatment depends on the patient's age, fitness, and genetic profile. CLL typically has a highly variable clinical course, and only patients with active or symptomatic disease or advanced stages require therapy. Chemoimmunotherapy is no longer a preferred treatment option.
What are relevant lay groups connected to chronic lymphocytic leukemia?1 answersChronic lymphocytic leukemia (CLL) is a heterogenous disease with a variable clinical course. Genomic profiling has identified several genomic lesions associated with poor outcomes in CLL. These include TP53 inactivation, gains at 2p, and gains at 8q23.3-q24.3. CLL is one of the most common forms of leukemia in adults and primarily affects middle-aged to older adults. The lay groups connected to CLL are not explicitly mentioned in the provided abstracts.