Molecular markers for the diagnosis of Philadelphia chromosome negative myeloproliferative disorders

Pathologie-biologie
Steffen Klippel, Heike L Pahl

Abstract

Polycythemia vera, essential thrombocythemia, idiopathic myelofibrosis and chronic myelogenous leukemia have been collectively termed the myeloproliferative disorders due to similarities in their clinical presentation. With the exception of chronic myelogenous leukemia, which is characterized by the presence of the Philadelphia chromosome, the myeloproliferative disorders display no consistent cytogenetic abnormalities. Hence, the diagnosis of Polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis to date relies on clinical criteria. However, several molecular aberrations have been described, which can be used as molecular markers for the diagnosis of these clinical entities. This review outlines the diagnostic assays developed and highlights the advantages and disadvantages of the following markers: (1). Endogenous Erythroid Colonies, (2). Clonality, (3). Reduced c-Mpl protein expression and (4). PRV-1 mRNA over expression.

References

Oct 21, 1976·The New England Journal of Medicine·J W AdamsonL Steinmann
Sep 1, 1976·Scandinavian Journal of Haematology·J WestinB Swolin
Mar 1, 1991·Mayo Clinic Proceedings·J L Diez-MartinG W Dewald
Nov 1, 1990·European Journal of Haematology·L Biljanović-PaunovićV Pavlović-Kentera
Nov 1, 1990·Journal of Clinical Pathology·G S MastersA Jacobs
Apr 1, 1985·The Journal of Clinical Investigation·W H RaskindP J Fialkow
Jun 13, 1974·The New England Journal of Medicine·J F Prchal, A A Axelrad
Oct 1, 1971·British Journal of Haematology·L R Wasserman
Jan 1, 1983·Acta Haematologica·F CarbonellH Heimpel
Jan 1, 1982·Hereditas·I KöpfA Weinfeld
Jan 16, 1993·Lancet·R E GaleD C Linch
Feb 26, 1998·The New England Journal of Medicine·A R MoliternoJ L Spivak
Mar 9, 1999·Mayo Clinic Proceedings·A Tefferi
Nov 28, 2001·European Journal of Haematology·T MotohashiH Nakauchi
Mar 29, 2002·British Journal of Haematology·Maria MessinezyThomas C Pearson
Oct 16, 2002·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Luciana TeofiliLuigi Maria Larocca

❮ Previous
Next ❯

Citations

Jan 11, 2007·Orphanet Journal of Rare Diseases·Jean B Brière
Dec 3, 2005·Leukemia & Lymphoma·Maria E Nelson, David P Steensma
Sep 1, 2007·Expert Opinion on Medical Diagnostics·Brijesh Arora, Ayalew Tefferi
Oct 8, 2005·Seminars in Hematology·Anthony J Bench, Heike L Pahl

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.