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Myelodysplastic syndrome associated with isolated del(5q)(MAR)

MedGen UID:
196625
Concept ID:
C0740302
Disease or Syndrome
Synonyms: 5q deletion syndrome; 5q- syndrome; Chromosome 5q deletion syndrome; Refractory macrocytic anemia due to 5q deletion
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): RPS14 (5q33.1)
 
Monarch Initiative: MONDO:0007925
OMIM®: 153550
Orphanet: ORPHA86841

Definition

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 (Ebert et al., 2008). [from OMIM]

Additional description

From MedlinePlus Genetics
5q minus (5q-) syndrome is a type of bone marrow disorder called myelodysplastic syndrome (MDS). MDS comprises a group of conditions in which immature blood cells fail to develop normally, resulting in too many immature cells and too few normal mature blood cells. In 5q- syndrome, development of red blood cells is particularly affected, leading to a shortage of these cells (anemia). In addition, the red blood cells that are present are unusually large (macrocytic). Although many people with 5q- syndrome have no symptoms related to anemia, especially in the early stages of the condition, some affected individuals develop extreme tiredness (fatigue), weakness, and an abnormally pale appearance (pallor) as the condition worsens. Individuals with 5q- syndrome also have abnormal development of bone marrow cells called megakaryocytes, which produce platelets, the cells involved in blood clotting. A common finding in people with 5q- syndrome is abnormal cells described as hypolobated megakaryocytes. In addition, some individuals with 5q- syndrome have an excess of platelets, while others have normal numbers of platelets.

MDS is considered a slow-growing (chronic) blood cancer. It can progress to a fast-growing blood cancer called acute myeloid leukemia (AML). Progression to AML occurs less commonly in people with 5q- syndrome than in those with other forms of MDS.  https://medlineplus.gov/genetics/condition/5q-minus-syndrome

Clinical features

From HPO
Myelodysplasia
MedGen UID:
10231
Concept ID:
C0026985
Congenital Abnormality
Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.
Anemia of inadequate production
MedGen UID:
95937
Concept ID:
C0392708
Pathologic Function
A kind of anemia characterized by inadequate production of erythrocytes.
Erythroid hypoplasia
MedGen UID:
488912
Concept ID:
C0542035
Disease or Syndrome
Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
Refractory macrocytic anemia
MedGen UID:
382516
Concept ID:
C2675059
Finding
Megakaryocyte nucleus hypolobulation
MedGen UID:
1614231
Concept ID:
C4531162
Finding
The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyelodysplastic syndrome associated with isolated del(5q)
Follow this link to review classifications for Myelodysplastic syndrome associated with isolated del(5q) in Orphanet.

Professional guidelines

PubMed

Auger N, Douet-Guilbert N, Quessada J, Theisen O, Lafage-Pochitaloff M, Troadec MB
Curr Res Transl Med 2023 Oct-Dec;71(4):103409. Epub 2023 Sep 17 doi: 10.1016/j.retram.2023.103409. PMID: 38091642
Komrokji RS, List AF
Ann Oncol 2016 Jan;27(1):62-8. Epub 2015 Oct 26 doi: 10.1093/annonc/mdv488. PMID: 26504152Free PMC Article
Belickova M, Cermak J, Dostalova Merkerova M, Vesela J, Krejcik Z, Cechova E, Zemanova Z, Michalova K, Votavova H, Caniga M, Neuwirtova R, Jonasova A
Clin Lymphoma Myeloma Leuk 2012 Oct;12(5):375-83. Epub 2012 May 18 doi: 10.1016/j.clml.2012.04.003. PMID: 22608605

Recent clinical studies

Etiology

Yang CF, Hsu CY, Hsiao LT, Chen SW, Chuang SS
Malays J Pathol 2023 Dec;45(3):405-416. PMID: 38155382
Auger N, Douet-Guilbert N, Quessada J, Theisen O, Lafage-Pochitaloff M, Troadec MB
Curr Res Transl Med 2023 Oct-Dec;71(4):103409. Epub 2023 Sep 17 doi: 10.1016/j.retram.2023.103409. PMID: 38091642
Mangaonkar AA, Lasho TL, Ketterling RP, Reichard KK, Gangat N, Al-Kali A, Begna KH, Pardanani A, Al Ali NH, Talati C, Sallman D, Padron E, Patnaik MM, Tefferi A, Komrokji R
Blood Cancer J 2022 Feb 1;12(2):26. doi: 10.1038/s41408-022-00622-8. PMID: 35105856Free PMC Article
Malcovati L, Stevenson K, Papaemmanuil E, Neuberg D, Bejar R, Boultwood J, Bowen DT, Campbell PJ, Ebert BL, Fenaux P, Haferlach T, Heuser M, Jansen JH, Komrokji RS, Maciejewski JP, Walter MJ, Fontenay M, Garcia-Manero G, Graubert TA, Karsan A, Meggendorfer M, Pellagatti A, Sallman DA, Savona MR, Sekeres MA, Steensma DP, Tauro S, Thol F, Vyas P, Van de Loosdrecht AA, Haase D, Tüchler H, Greenberg PL, Ogawa S, Hellstrom-Lindberg E, Cazzola M
Blood 2020 Jul 9;136(2):157-170. doi: 10.1182/blood.2020004850. PMID: 32347921Free PMC Article
Komrokji RS, List AF
Ann Oncol 2016 Jan;27(1):62-8. Epub 2015 Oct 26 doi: 10.1093/annonc/mdv488. PMID: 26504152Free PMC Article

Diagnosis

Mangaonkar AA, Lasho TL, Ketterling RP, Reichard KK, Gangat N, Al-Kali A, Begna KH, Pardanani A, Al Ali NH, Talati C, Sallman D, Padron E, Patnaik MM, Tefferi A, Komrokji R
Blood Cancer J 2022 Feb 1;12(2):26. doi: 10.1038/s41408-022-00622-8. PMID: 35105856Free PMC Article
Malcovati L, Stevenson K, Papaemmanuil E, Neuberg D, Bejar R, Boultwood J, Bowen DT, Campbell PJ, Ebert BL, Fenaux P, Haferlach T, Heuser M, Jansen JH, Komrokji RS, Maciejewski JP, Walter MJ, Fontenay M, Garcia-Manero G, Graubert TA, Karsan A, Meggendorfer M, Pellagatti A, Sallman DA, Savona MR, Sekeres MA, Steensma DP, Tauro S, Thol F, Vyas P, Van de Loosdrecht AA, Haase D, Tüchler H, Greenberg PL, Ogawa S, Hellstrom-Lindberg E, Cazzola M
Blood 2020 Jul 9;136(2):157-170. doi: 10.1182/blood.2020004850. PMID: 32347921Free PMC Article
Paulraj P, Diamond S, Razzaqi F, Ozeran JD, Longhurst M, Andersen EF, Toydemir RM, Hong B
Genes Chromosomes Cancer 2019 Aug;58(8):551-557. Epub 2019 Feb 14 doi: 10.1002/gcc.22740. PMID: 30706625
Wall M
Methods Mol Biol 2017;1541:209-222. doi: 10.1007/978-1-4939-6703-2_18. PMID: 27910026
Orazi A, Czader MB
Am J Clin Pathol 2009 Aug;132(2):290-305. doi: 10.1309/AJCPRCXX4R0YHKWV. PMID: 19605823

Therapy

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
Nolte F, Mossner M, Jann JC, Nowak D, Boch T, Müller NZ, Hofmann WK, Metzgeroth G
Eur J Haematol 2017 Mar;98(3):302-310. Epub 2016 Dec 27 doi: 10.1111/ejh.12827. PMID: 27862375
Komrokji RS, List AF
Ann Oncol 2016 Jan;27(1):62-8. Epub 2015 Oct 26 doi: 10.1093/annonc/mdv488. PMID: 26504152Free PMC Article
Smith AE, Kulasekararaj AG, Jiang J, Mian S, Mohamedali A, Gaken J, Ireland R, Czepulkowski B, Best S, Mufti GJ
Lancet Haematol 2015 May;2(5):e212-21. Epub 2015 May 6 doi: 10.1016/S2352-3026(15)00050-2. PMID: 26688096
Giagounidis A, Mufti GJ, Fenaux P, Germing U, List A, MacBeth KJ
Ann Hematol 2014 Jan;93(1):1-11. Epub 2013 Sep 10 doi: 10.1007/s00277-013-1863-5. PMID: 24018623Free PMC Article

Prognosis

Yang CF, Hsu CY, Hsiao LT, Chen SW, Chuang SS
Malays J Pathol 2023 Dec;45(3):405-416. PMID: 38155382
Mangaonkar AA, Lasho TL, Ketterling RP, Reichard KK, Gangat N, Al-Kali A, Begna KH, Pardanani A, Al Ali NH, Talati C, Sallman D, Padron E, Patnaik MM, Tefferi A, Komrokji R
Blood Cancer J 2022 Feb 1;12(2):26. doi: 10.1038/s41408-022-00622-8. PMID: 35105856Free PMC Article
Malcovati L, Stevenson K, Papaemmanuil E, Neuberg D, Bejar R, Boultwood J, Bowen DT, Campbell PJ, Ebert BL, Fenaux P, Haferlach T, Heuser M, Jansen JH, Komrokji RS, Maciejewski JP, Walter MJ, Fontenay M, Garcia-Manero G, Graubert TA, Karsan A, Meggendorfer M, Pellagatti A, Sallman DA, Savona MR, Sekeres MA, Steensma DP, Tauro S, Thol F, Vyas P, Van de Loosdrecht AA, Haase D, Tüchler H, Greenberg PL, Ogawa S, Hellstrom-Lindberg E, Cazzola M
Blood 2020 Jul 9;136(2):157-170. doi: 10.1182/blood.2020004850. PMID: 32347921Free PMC Article
Paulraj P, Diamond S, Razzaqi F, Ozeran JD, Longhurst M, Andersen EF, Toydemir RM, Hong B
Genes Chromosomes Cancer 2019 Aug;58(8):551-557. Epub 2019 Feb 14 doi: 10.1002/gcc.22740. PMID: 30706625
Wall M
Methods Mol Biol 2017;1541:209-222. doi: 10.1007/978-1-4939-6703-2_18. PMID: 27910026

Clinical prediction guides

Montoro MJ, Palomo L, Haferlach C, Acha P, Chan O, Navarro V, Kubota Y, Schulz FI, Meggendorfer M, Briski R, Al Ali N, Xicoy B, López-Cadenas F, Bosch F, González T, Eder LN, Jerez A, Wang YH, Campagna A, Santini V, Bernal Del Castillo T, Such E, Tien HF, Diaz Varela N, Platzbecker U, Haase D, Díez-Campelo M, Della Porta M, Garcia-Manero G, Wiseman DH, Germing U, Maciejewski JP, Komrokji RS, Sole F, Haferlach T, Valcárcel D
Blood 2024 Oct 17;144(16):1722-1731. doi: 10.1182/blood.2024023840. PMID: 39074355
Auger N, Douet-Guilbert N, Quessada J, Theisen O, Lafage-Pochitaloff M, Troadec MB
Curr Res Transl Med 2023 Oct-Dec;71(4):103409. Epub 2023 Sep 17 doi: 10.1016/j.retram.2023.103409. PMID: 38091642
Mangaonkar AA, Lasho TL, Ketterling RP, Reichard KK, Gangat N, Al-Kali A, Begna KH, Pardanani A, Al Ali NH, Talati C, Sallman D, Padron E, Patnaik MM, Tefferi A, Komrokji R
Blood Cancer J 2022 Feb 1;12(2):26. doi: 10.1038/s41408-022-00622-8. PMID: 35105856Free PMC Article
Wall M
Methods Mol Biol 2017;1541:209-222. doi: 10.1007/978-1-4939-6703-2_18. PMID: 27910026
Patnaik MM, Lasho TL, Finke CM, Knudson RA, Ketterling RP, Chen D, Hoyer JD, Hanson CA, Tefferi A
Am J Hematol 2011 May;86(5):393-8. doi: 10.1002/ajh.21984. PMID: 21523797

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