HAEM4:Myelodysplastic Syndrome (MDS) with Isolated del(5q): Difference between revisions

MDS with isolated del(5q) is a type of [[Myelodysplastic Syndromes (MDS)|MDS]] with defining cytogenetic abnormality of del(5q). The World Health Organization named it as isolated del 5q, but occasionally the deletion can occur with an additional cytogenetic abnormality other than monosomy 7 or del(7q). The 5q- syndrome was first described by Van den Berghe et al as a distinct type of MDS featured with macrocytic anemia, hypolobulated megakaryocytes, a normal or increased platelet count <ref name=":0" />. Deletion of 5q is the most common recurrent cytogenetic abnormality in myeloid neoplasm and it was commonly seen in 10-15% of patients with MDS<ref>{{Cite journal|last=Hosono|first=Naoko|last2=Makishima|first2=Hideki|last3=Mahfouz|first3=Reda|last4=Przychodzen|first4=Bartlomiej|last5=Yoshida|first5=Kenichi|last6=Jerez|first6=Andres|last7=LaFramboise|first7=Thomas|last8=Polprasert|first8=Chantana|last9=Clemente|first9=Michael J|date=2017|title=Recurrent genetic defects on chromosome 5q in myeloid neoplasms|url=https://www.oncotarget.com/lookup/doi/10.18632/oncotarget.14130|journal=Oncotarget|language=en|volume=8|issue=4|pages=6483–6495|doi=10.18632/oncotarget.14130|issn=1949-2553|pmc=PMC5351647|pmid=28031539}}</ref>. A ~1.5 Mb common deleted region (CDR)  at 5q32-q33 was identified in 5q- syndrome patients and was associated with good prognosis <ref>{{Cite journal|last=Boultwood|first=J.|last2=Fidler|first2=C.|last3=Lewis|first3=S.|last4=Kelly|first4=S.|last5=Sheridan|first5=H.|last6=Littlewood|first6=T.J.|last7=Buckle|first7=V.J.|last8=Wainscoat|first8=J.S.|date=1994|title=Molecular Mapping of Uncharacteristically Small 5q Deletions in Two Patients with the 5q- Syndrome: Delineation of the Critical Region on 5q and Identification of a 5q- Breakpoint|url=https://linkinghub.elsevier.com/retrieve/pii/S0888754384710901|journal=Genomics|language=en|volume=19|issue=3|pages=425–432|doi=10.1006/geno.1994.1090}}</ref>. This disease has a good respond to lenalidomide treatment (See Clinical Significance).