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Myelodysplastic Syndrome with Isolated del(5q)

MedGen UID:
226950
•Concept ID:
C1292779
•
Neoplastic Process
Synonyms: 5q minus syndrome; 5q- Syndrome; Myelodysplastic Syndrome Associated with Isolated del (5q) Chromosome Abnormality; Myelodysplastic Syndrome with 5q Deletion; Myelodysplastic syndrome with 5Q deletion; Myelodysplastic syndrome with 5q- syndrome; Myelodysplastic syndrome with isolated del (5q); Myelodysplastic syndrome with isolated del(5q); Myelodysplastic syndrome with isolated del(5q) chromosomal abnormality; Myelodysplastic syndrome with isolated deletion 5q
SNOMED CT: Myelodysplastic syndrome with 5q- syndrome (128837000); 5q minus syndrome (277597005); Myelodysplastic syndrome with isolated del(5q) (277597005); Myelodysplastic syndrome with isolated del(5q) chromosomal abnormality (277597005); Myelodysplastic syndrome with isolated del(5q) (128837000); Myelodysplastic syndrome with 5Q deletion (277597005); Myelodysplastic syndrome with isolated del (5q) (128837000); Myelodysplastic syndrome with isolated deletion 5q (128837000)

Definition

A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001) [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyelodysplastic Syndrome with Isolated del(5q)

Professional guidelines

PubMed

Polish experience of lenalidomide in the treatment of lower risk myelodysplastic syndrome with isolated del(5q).
Butrym A, Lech-Maranda E, Patkowska E, Kumiega B, Bieniaszewska M, Mital A, Madry K, Torosian T, Wichary R, Rybka J, Warzocha K, Mazur G
BMC Cancer 2015 Jul 8;15:508. doi: 10.1186/s12885-015-1444-1. PMID: 26152663Free PMC Article

Recent clinical studies

Etiology

Competitive evolved sub-clonal BCR::ABL1 and novel MSI2::PC fusion genes in myelodysplastic syndrome with isolated del(5q).
Zhang Y, Liu Y, Wang T, Wang H, Chen X, Cao P, Ma X, Liu M, Xu P, Bi H, Pan J, Jiang Y, Li X, Wang W, Liu H
Hematol Oncol 2023 Feb;41(1):178-181. Epub 2022 Nov 1 doi: 10.1002/hon.3095. PMID: 36301018
Age, Blasts, Performance Status and Lenalidomide Therapy Influence the Outcome of Myelodysplastic Syndrome With Isolated Del(5q): A Study of 58 South American Patients.
Azevedo RS, Belli C, Bassolli L, Ferri L, Perusini MA, Enrico A, Pereira T, Junior W, Buccheri V, Pinheiro RF, Magalhaes SM, Schuster S, Castelli JB, Traina F, Rocha V, Velloso E
Clin Lymphoma Myeloma Leuk 2022 Jan;22(1):e1-e6. Epub 2021 Jul 25 doi: 10.1016/j.clml.2021.07.026. PMID: 34429274
Acute myeloid leukemia with isolated del(5q) is associated with IDH1/IDH2 mutations and better prognosis when compared to acute myeloid leukemia with complex karyotype including del(5q).
Rea B, Aggarwal N, Yatsenko SA, Bailey N, Liu YC
Mod Pathol 2020 Apr;33(4):566-575. Epub 2019 Nov 4 doi: 10.1038/s41379-019-0396-4. PMID: 31685963
Polish experience of lenalidomide in the treatment of lower risk myelodysplastic syndrome with isolated del(5q).
Butrym A, Lech-Maranda E, Patkowska E, Kumiega B, Bieniaszewska M, Mital A, Madry K, Torosian T, Wichary R, Rybka J, Warzocha K, Mazur G
BMC Cancer 2015 Jul 8;15:508. doi: 10.1186/s12885-015-1444-1. PMID: 26152663Free PMC Article
Treatment of myelodysplastic syndrome with isolated del(5q) including bands q31-q33 with a combination of all-trans-retinoic acid and tocopherol-alpha: a phase II study.
Giagounidis AA, Haase S, Germing U, Schlegelberger B, Wilkens L, Büsche G, Kreipe HH, Wysk J, Grips KH, Grabenhorst U, Rothmann F, Lübbert M, Ganser A, Aivado M, Heinsch M, Aul C
Ann Hematol 2005 Jun;84(6):389-94. Epub 2005 Mar 23 doi: 10.1007/s00277-005-1027-3. PMID: 15785949

Diagnosis

Competitive evolved sub-clonal BCR::ABL1 and novel MSI2::PC fusion genes in myelodysplastic syndrome with isolated del(5q).
Zhang Y, Liu Y, Wang T, Wang H, Chen X, Cao P, Ma X, Liu M, Xu P, Bi H, Pan J, Jiang Y, Li X, Wang W, Liu H
Hematol Oncol 2023 Feb;41(1):178-181. Epub 2022 Nov 1 doi: 10.1002/hon.3095. PMID: 36301018
Images from the Haematologica Atlas of Hematologic Cytology: myelodysplastic syndrome with isolated del(5q).
Invernizzi R
Haematologica 2022 Oct 1;107(10):2285. doi: 10.3324/haematol.2022.281643. PMID: 36185005Free PMC Article
Age, Blasts, Performance Status and Lenalidomide Therapy Influence the Outcome of Myelodysplastic Syndrome With Isolated Del(5q): A Study of 58 South American Patients.
Azevedo RS, Belli C, Bassolli L, Ferri L, Perusini MA, Enrico A, Pereira T, Junior W, Buccheri V, Pinheiro RF, Magalhaes SM, Schuster S, Castelli JB, Traina F, Rocha V, Velloso E
Clin Lymphoma Myeloma Leuk 2022 Jan;22(1):e1-e6. Epub 2021 Jul 25 doi: 10.1016/j.clml.2021.07.026. PMID: 34429274
Polish experience of lenalidomide in the treatment of lower risk myelodysplastic syndrome with isolated del(5q).
Butrym A, Lech-Maranda E, Patkowska E, Kumiega B, Bieniaszewska M, Mital A, Madry K, Torosian T, Wichary R, Rybka J, Warzocha K, Mazur G
BMC Cancer 2015 Jul 8;15:508. doi: 10.1186/s12885-015-1444-1. PMID: 26152663Free PMC Article
Bone marrow morphology predicts additional chromosomal abnormalities in patients with myelodysplastic syndrome with del(5q).
Geyer JT, Verma S, Mathew S, Wang YL, Racchumi J, Espinal-Witter R, Subramaniyam S, Knowles DM, Orazi A
Hum Pathol 2013 Mar;44(3):346-56. Epub 2012 Sep 17 doi: 10.1016/j.humpath.2012.05.022. PMID: 22995330

Therapy

Age, Blasts, Performance Status and Lenalidomide Therapy Influence the Outcome of Myelodysplastic Syndrome With Isolated Del(5q): A Study of 58 South American Patients.
Azevedo RS, Belli C, Bassolli L, Ferri L, Perusini MA, Enrico A, Pereira T, Junior W, Buccheri V, Pinheiro RF, Magalhaes SM, Schuster S, Castelli JB, Traina F, Rocha V, Velloso E
Clin Lymphoma Myeloma Leuk 2022 Jan;22(1):e1-e6. Epub 2021 Jul 25 doi: 10.1016/j.clml.2021.07.026. PMID: 34429274
Polish experience of lenalidomide in the treatment of lower risk myelodysplastic syndrome with isolated del(5q).
Butrym A, Lech-Maranda E, Patkowska E, Kumiega B, Bieniaszewska M, Mital A, Madry K, Torosian T, Wichary R, Rybka J, Warzocha K, Mazur G
BMC Cancer 2015 Jul 8;15:508. doi: 10.1186/s12885-015-1444-1. PMID: 26152663Free PMC Article
High level of full-length cereblon mRNA in lower risk myelodysplastic syndrome with isolated 5q deletion is implicated in the efficacy of lenalidomide.
Jonasova A, Bokorova R, Polak J, Vostry M, Kostecka A, Hajkova H, Neuwirtova R, Siskova M, Sponerova D, Cermak J, Mikulenkova D, Cervinek L, Brezinova J, Michalova K, Fuchs O
Eur J Haematol 2015 Jul;95(1):27-34. Epub 2014 Oct 31 doi: 10.1111/ejh.12457. PMID: 25284710
Bone marrow morphology predicts additional chromosomal abnormalities in patients with myelodysplastic syndrome with del(5q).
Geyer JT, Verma S, Mathew S, Wang YL, Racchumi J, Espinal-Witter R, Subramaniyam S, Knowles DM, Orazi A
Hum Pathol 2013 Mar;44(3):346-56. Epub 2012 Sep 17 doi: 10.1016/j.humpath.2012.05.022. PMID: 22995330
Treatment of myelodysplastic syndrome with isolated del(5q) including bands q31-q33 with a combination of all-trans-retinoic acid and tocopherol-alpha: a phase II study.
Giagounidis AA, Haase S, Germing U, Schlegelberger B, Wilkens L, Büsche G, Kreipe HH, Wysk J, Grips KH, Grabenhorst U, Rothmann F, Lübbert M, Ganser A, Aivado M, Heinsch M, Aul C
Ann Hematol 2005 Jun;84(6):389-94. Epub 2005 Mar 23 doi: 10.1007/s00277-005-1027-3. PMID: 15785949

Prognosis

Age, Blasts, Performance Status and Lenalidomide Therapy Influence the Outcome of Myelodysplastic Syndrome With Isolated Del(5q): A Study of 58 South American Patients.
Azevedo RS, Belli C, Bassolli L, Ferri L, Perusini MA, Enrico A, Pereira T, Junior W, Buccheri V, Pinheiro RF, Magalhaes SM, Schuster S, Castelli JB, Traina F, Rocha V, Velloso E
Clin Lymphoma Myeloma Leuk 2022 Jan;22(1):e1-e6. Epub 2021 Jul 25 doi: 10.1016/j.clml.2021.07.026. PMID: 34429274
Acute myeloid leukemia with isolated del(5q) is associated with IDH1/IDH2 mutations and better prognosis when compared to acute myeloid leukemia with complex karyotype including del(5q).
Rea B, Aggarwal N, Yatsenko SA, Bailey N, Liu YC
Mod Pathol 2020 Apr;33(4):566-575. Epub 2019 Nov 4 doi: 10.1038/s41379-019-0396-4. PMID: 31685963
Polish experience of lenalidomide in the treatment of lower risk myelodysplastic syndrome with isolated del(5q).
Butrym A, Lech-Maranda E, Patkowska E, Kumiega B, Bieniaszewska M, Mital A, Madry K, Torosian T, Wichary R, Rybka J, Warzocha K, Mazur G
BMC Cancer 2015 Jul 8;15:508. doi: 10.1186/s12885-015-1444-1. PMID: 26152663Free PMC Article
Bone marrow morphology predicts additional chromosomal abnormalities in patients with myelodysplastic syndrome with del(5q).
Geyer JT, Verma S, Mathew S, Wang YL, Racchumi J, Espinal-Witter R, Subramaniyam S, Knowles DM, Orazi A
Hum Pathol 2013 Mar;44(3):346-56. Epub 2012 Sep 17 doi: 10.1016/j.humpath.2012.05.022. PMID: 22995330
Treatment of myelodysplastic syndrome with isolated del(5q) including bands q31-q33 with a combination of all-trans-retinoic acid and tocopherol-alpha: a phase II study.
Giagounidis AA, Haase S, Germing U, Schlegelberger B, Wilkens L, Büsche G, Kreipe HH, Wysk J, Grips KH, Grabenhorst U, Rothmann F, Lübbert M, Ganser A, Aivado M, Heinsch M, Aul C
Ann Hematol 2005 Jun;84(6):389-94. Epub 2005 Mar 23 doi: 10.1007/s00277-005-1027-3. PMID: 15785949

Clinical prediction guides

Age, Blasts, Performance Status and Lenalidomide Therapy Influence the Outcome of Myelodysplastic Syndrome With Isolated Del(5q): A Study of 58 South American Patients.
Azevedo RS, Belli C, Bassolli L, Ferri L, Perusini MA, Enrico A, Pereira T, Junior W, Buccheri V, Pinheiro RF, Magalhaes SM, Schuster S, Castelli JB, Traina F, Rocha V, Velloso E
Clin Lymphoma Myeloma Leuk 2022 Jan;22(1):e1-e6. Epub 2021 Jul 25 doi: 10.1016/j.clml.2021.07.026. PMID: 34429274
Polish experience of lenalidomide in the treatment of lower risk myelodysplastic syndrome with isolated del(5q).
Butrym A, Lech-Maranda E, Patkowska E, Kumiega B, Bieniaszewska M, Mital A, Madry K, Torosian T, Wichary R, Rybka J, Warzocha K, Mazur G
BMC Cancer 2015 Jul 8;15:508. doi: 10.1186/s12885-015-1444-1. PMID: 26152663Free PMC Article
Bone marrow morphology predicts additional chromosomal abnormalities in patients with myelodysplastic syndrome with del(5q).
Geyer JT, Verma S, Mathew S, Wang YL, Racchumi J, Espinal-Witter R, Subramaniyam S, Knowles DM, Orazi A
Hum Pathol 2013 Mar;44(3):346-56. Epub 2012 Sep 17 doi: 10.1016/j.humpath.2012.05.022. PMID: 22995330
WHO-defined 'myelodysplastic syndrome with isolated del(5q)' in 88 consecutive patients: survival data, leukemic transformation rates and prevalence of JAK2, MPL and IDH mutations.
Patnaik MM, Lasho TL, Finke CM, Gangat N, Caramazza D, Holtan SG, Pardanani A, Knudson RA, Ketterling RP, Chen D, Hoyer JD, Hanson CA, Tefferi A
Leukemia 2010 Jul;24(7):1283-9. Epub 2010 May 20 doi: 10.1038/leu.2010.105. PMID: 20485371Free PMC Article
Treatment of myelodysplastic syndrome with isolated del(5q) including bands q31-q33 with a combination of all-trans-retinoic acid and tocopherol-alpha: a phase II study.
Giagounidis AA, Haase S, Germing U, Schlegelberger B, Wilkens L, Büsche G, Kreipe HH, Wysk J, Grips KH, Grabenhorst U, Rothmann F, Lübbert M, Ganser A, Aivado M, Heinsch M, Aul C
Ann Hematol 2005 Jun;84(6):389-94. Epub 2005 Mar 23 doi: 10.1007/s00277-005-1027-3. PMID: 15785949

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