5q- Syndrome

Common Name(s)

5q- Syndrome

The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal or elevated platelet counts, normal or reduced neutrophil counts, erythroid hypoplasia in the bone marrow, and hypolobated micromegakaryocytes ({4:Ebert et al., 2008}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "5q- Syndrome" for support, advocacy or research.

Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

Last Updated: 4 Mar 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "5q- Syndrome" for support, advocacy or research.

Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

http://www.rarechromo.org

Last Updated: 4 Mar 2015

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General Resources

Little Yellow Book

A parents guide to rare chromosome disorders

Updated 4 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "5q- Syndrome" returned 51 free, full-text research articles on human participants. First 3 results:

Lenalidomide combined with intensive chemotherapy in acute myeloid leukemia and higher-risk myelodysplastic syndrome with 5q deletion. Results of a phase II study by the Groupe Francophone Des Myélodysplasies.
 

Author(s): Lionel Ades, Thomas Prebet, Aspasia Stamatoullas, Christian Recher, Romain Guieze, Emmanuel Raffoux, Krimo Bouabdallah, Mathilde Hunault, Eric Wattel, Laure Stalnikiewicz, Andrea Toma, Hervé Dombret, Norbert Vey, Marie Sebert, Claude Gardin, Cendrine Chaffaut, Sylvie Chevret, Pierre Fenaux

Journal: Haematologica. 2017 Apr;102(4):728-735.

 

Patients with acute myeloblastic leukemia or higher risk myelodysplastic syndromes with 5q deletion (generally within a complex karyotype) respond poorly to intensive chemotherapy and have very poor survival. In this population, we evaluated escalating doses of lenalidomide combined ...

Last Updated: 30 Dec 2016

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Myelodysplastic syndrome with del (5q) and JAK2(V617F) mutation transformed to acute myeloid leukaemia with complex karyotype.
 

Author(s): Achille Pich, Laura Godio, Ludovica Riera, Cristina Cavaliere, Simonetta Kerim, Lisa Bonello, Paola Francia di Celle

Journal: Ann. Hematol.. 2016 Feb;95(3):525-7.

 

Last Updated: 5 Feb 2016

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Genomic Copy Number Variations in the Myelodysplastic Syndrome and Acute Myeloid Leukemia Patients with del(5q) and/or -7/del(7q).
 

Author(s): Rui Zhang, Young-Mi Kim, Xianfu Wang, Yan Li, Xianglan Lu, Andrea R Sternenberger, Shibo Li, Ji-Yun Lee

Journal:

 

The most common chromosomal abnormalities in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) are -5/del(5q) and -7/del(7q). When -5/del(5q) and -7/del(7q) coexist in patients, a poor prognosis is typically associated. Given that -5/del(5q) and/or -7/del(7q) often are ...

Last Updated: 22 Sep 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "5q- Syndrome" returned 6 free, full-text review articles on human participants. First 3 results:

Molecular dissection of the 5q deletion in myelodysplastic syndrome.
 

Author(s): Benjamin L Ebert

Journal: Semin. Oncol.. 2011 Oct;38(5):621-6.

 

The 5q-syndrome is a subtype of myelodysplastic syndrome (MDS) with a defined clinical phenotype associated with heterozygous deletions of chromosome 5q. While no genes have been identified that undergo recurrent homozygous inactivation, functional studies have revealed individual ...

Last Updated: 29 Sep 2011

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Transformation of the 5q- syndrome to acute lymphoblastic leukemia: a report of two cases and review of the literature.
 

Author(s): Nicole M Agostino, Basil Ahmed, Dan Popescu, Shereen Gheith

Journal: Int J Clin Exp Pathol. 2011 Mar;4(3):322-6.

 

Myelodysplastic syndrome (MDS) with an isolated deletion of the long arm of chromosome 5 (5q- syndrome) is a distinct subtype of MDS with an indolent course that rarely transforms to acute leukemia. Deletion of the long arm of chromosome 5 has also been reported in rare cases of de ...

Last Updated: 13 Apr 2011

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Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome.
 

Author(s): Nicholas Burwick, Akiko Shimamura, Johnson M Liu

Journal: Semin. Hematol.. 2011 Apr;48(2):136-43.

 

A number of human disorders, dubbed ribosomopathies, are linked to impaired ribosome biogenesis or function. These include but are not limited to Diamond Blackfan anemia (DBA), Shwachman Diamond syndrome (SDS), and the 5q- myelodysplastic syndrome (MDS). This review focuses on the ...

Last Updated: 25 Mar 2011

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of REVLIMID (Lenalidomide) Versus Placebo in Patients With Low Risk Myelodysplastic Syndrome
 

Status: Recruiting

Condition Summary: Myelodysplastic Syndrome

 

Last Updated: 18 Apr 2016

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