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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

General Resources

Little Yellow Book

A parents guide to rare chromosome disorders

Updated 4 Mar 2013

Go To URL
 
 
Top

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 49 free, full-text research articles on human participants. First 3 results:

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

Go To URL
Polish experience of lenalidomide in the treatment of lower risk myelodysplastic syndrome with isolated del(5q).
 

Author(s): Aleksandra Butrym, Ewa Lech-Maranda, Elżbieta Patkowska, Beata Kumiega, Maria Bieniaszewska, Andrzej Mital, Krzysztof Madry, Tigran Torosian, Ryszard Wichary, Justyna Rybka, Krzysztof Warzocha, Grzegorz Mazur

Journal:

 

Lenalidomide has been approved for the treatment of lower-risk myelodysplastic syndrome (MDS) with 5q deletion (del(5q)). We present for the first time a retrospective analysis of low-risk MDS with isolated del5q treated with lenalidomide, outside the clinical trials.

Last Updated: 8 Jul 2015

Go To URL
A case of refractory thrombocytopenia with 5q deletion: myelodysplastic syndrome mimicking idiopathic thrombocytopenic purpura.
 

Author(s): Jeonghyun Chang, Chan-Jeoung Park, Eul-Ju Seo, Jung-Hee Lee, Sang Hyuk Park, Young-Uk Cho, Seongsoo Jang

Journal: Ann Lab Med. 2014 Nov;34(6):466-8.

 

Last Updated: 4 Nov 2014

Go To URL

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

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

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

Go to URL

Last Updated: 4 Nov 2016

Go to URL