Volume 6, Number 3;  July 10, 2006

 

Older female with FUO

Clinical Question: 

1) What are the current methods for genetic diagnosis of CML??

 

Recommended reading:

Chronic myeloid leukemia: current application of cytogenetics and molecular testing for diagnosis and treatment. [Review] Mayo Clinic Proceedings 2005

Chronic myelogenous leukemia: laboratory diagnosis and monitoring. [Review] Genes, Chromosomes & Cancer 2001

 

Patient: 54-year-old African American female presenting with persistent fever.  Patient history of DM, HTN, "Anemia of chronic disease", prior admissions for UTI.  CBC: wbc= 31.3, H&H= 6.5 / 21, platelet= 695.  Patient ultimately diagnosed with sickle cell disease and suspected diagnosis of CML is pending. 

Session Handout:

 

Readings:

 

Link Directly to Fulltext Article at Publisher

<3>

Unique Identifier [PMID]: 15757021

Authors: Tefferi A. Dewald GW. Litzow ML. Cortes J. Mauro MJ. Talpaz M. Kantarjian HM.

Institution: Department of Internal Medicine and Division of Hematology, Mayo Clinic College of Medicine, Rochester, Minn 55905, USA.

Title: Chronic myeloid leukemia: current application of cytogenetics and molecular testing for diagnosis and treatment. [Review] [191 refs]

 

Source: Mayo Clinic Proceedings. 80(3):390-402, 2005 Mar.

Abstract: Chronic myeloid leukemia provides an illustrative disease model for both molecular pathogenesis of cancer and rational drug therapy. Chronic myeloid leukemia is a clonal stem cell disease caused by an acquired somatic mutation that fuses, through chromosomal translocation, the abl and bcr genes on chromosomes 9 and 22, respectively. The bcr/abl gene product is an oncogenic protein that localizes to the cytoskeleton and displays an up-regulated tyrosine kinase activity that leads to the recruitment of downstream effectors of cell proliferation and cell survival and consequently cell transformation. Such molecular information on pathogenesis has facilitated accurate diagnosis, the development of pathogenesis-targeted drug therapy, and most recently the application of molecular techniques for monitoring minimal residual disease after successful therapy. These issues are discussed within the context of clinical practice. [References: 191]

Publication Type: Journal Article. Review.

 

 Link Directly to Fulltext Article at Publisher

<8>

Unique Identifier [PMID]: 11550277

Authors: Wang YL. Bagg A. Pear W. Nowell PC. Hess JL.

Institution: Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 413b Stellar-Chance Building, 422 Curie Blvd., Philadelphia, PA 19104, USA.

Title: Chronic myelogenous leukemia: laboratory diagnosis and monitoring. [Review] [119 refs]

 

Source: Genes, Chromosomes & Cancer. 32(2):97-111, 2001 Oct.

Abstract: Rapid developments have occurred both in laboratory medicine and in therapeutic interventions for the management of patients with chronic myelogenous leukemia (CML). With a wide array of laboratory tests available, selecting the appropriate test for a specific diagnostic or therapeutic setting has become increasingly difficult. In this review, we first discuss, from the point of view of laboratory medicine, the advantages and disadvantages of several commonly used laboratory assays, including cytogenetics, fluorescence in situ hybridization (FISH), and qualitative and quantitative reverse transcriptase-polymerase chain reaction (RT-PCR). We then discuss, from the point of view of clinical care, the test(s) of choice for the most common clinical scenarios, including diagnosis and monitoring of the therapeutic response and minimal residual disease in patients treated with different therapies. The purpose of this review is to help clinicians and laboratory physicians select appropriate tests for the diagnosis and monitoring of CML, with the ultimate goal of improving the cost-effective usage of clinical laboratories and improving patient care. Copyright 2001 Wiley-Liss, Inc. [References: 119]

Publication Type: Journal Article. Review.

 

 

Resident Report / Department of Medicine & Grady Branch Library

Emory University School of Medicine

2006 Edition

Participating Faculty:  Carlos Del Rio MD  / Joyce Doyle MD / Lorenzo Difrancesco MD / Joel Mermis MD / Maunank Shah MD

Contact: Karl Woodworth 

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