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 54 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 .
 

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 04;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: 31 Dec 1969

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Epistasis between TIFAB and miR-146a: neighboring genes in del(5q) myelodysplastic syndrome.
 

Author(s): M E Varney, K Choi, L Bolanos, S Christie, J Fang, H L Grimes, J P Maciejewski, J-I Inoue, D T Starczynowski

Journal: Leukemia. 2017 02;31(2):491-495.

 

Last Updated: 31 Dec 1969

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Erythrocyte adenosine deaminase levels are elevated in Diamond Blackfan anemia but not in the 5q- syndrome.
 

Author(s): Anupama Narla, Natalie L Davis, Corinne Lavasseur, Carolyn Wong, Bertil Glader

Journal: Am. J. Hematol.. 2016 12;91(12):E501-E502.

 

Last Updated: 31 Dec 1969

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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 5 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: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 24 Sep 2018

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A Trial Testing Early vs Late Onset of EPO Alfa Treatment in Lower Risk MDS
 

Status: Recruiting

Condition Summary: Myelodysplastic Syndromes

 

Last Updated: 1 Feb 2018

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Sirolimus and Azacitidine in Treating Patients With High Risk Myelodysplastic Syndrome or Acute Myeloid Leukemia That is Recurrent or Not Eligible for Intensive Chemotherapy
 

Status: Recruiting

Condition Summary: Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Del(5q); Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); de Novo Myelodysplastic Syndromes; Myelodysplastic Syndrome With Isolated Del(5q); Previously Treated Myelodysplastic Syndromes; Recurrent Adult Acute Myeloid Leukemia

 

Last Updated: 1 Aug 2018

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