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del (5q) solely in Myelodysplastic syndrome

Written2016-10Nahid Shahmarvand, Robert S. Ohgami
Department of Pathology, Stanford University, Stanford, CA, USA;

Abstract Review on Myelodysplastic syndrome with isolated deletion of 5q

Keywords Myelodysplastic syndrome; chromosome 5; deletion 5q

(Note : for Links provided by Atlas : click)


ICD-Topo C420,C421,C424
ICD-Morpho 9986/3 Myelodysplastic syndrome with isolated del(5q)
Atlas_Id 1134
Other namesMyelodysplastic syndrome with isolated deletion of 5q
  del (5q) Partial karyotypes with del(5q) (A). Hybridization with Vysis LSI CSF1R (5q33-34)/5p15.2 and Vysis EGR1(5q31)/5p15.2 probes (Abbott molecular, US) showing 2 red and 2 green signals on normal metaphase (B) and showing deletions of various sizes involving EGRI and CSFR1 (missing red signals) (C-I) - Courtesy Adriana Zamecnikova.

Clinics and Pathology

Disease Myelodysplastic syndrome (MDS) with isolated deletion of chromosome 5q is part of a group of clonal disorders in myeloid stem cells with ineffective hematopoiesis which is manifested by morphologic dysplasia in hematopoietic cells and single or bilineage cytopenia(s). It is the only MDS subtype defined cytogenetically in the World Health Organization classification system.
Phenotype / cell stem origin Myeloid stem cell.
Epidemiology MDS with isolated del(5q) is present in <5% of MDS cases (Mallo et al., 2011). It occurs more often in women than in men, male:female ratio 7:3, with a median age of diagnosis at 65 to 70 years.
Clinics Patients suffering from MDS with isolated del(5q) present with a macrocytic anemia, normal or increased platelet count and absence of significant neutropenia in their peripheral blood. The incidence of bleeding and infections is therefore low in these patients because of the absence of significant neutropenia and thrombocytopenia. Blood transfusion dependency is seen in patients with severe anemia at diagnosis but also can develop in other patients (Germing et al., 2012). According to the Revised International Prognostic Scoring System (IPSS-R), MDS with isolated del(5q) are defined as Low- or Intermediate -1- risk subtypes and usually have an indolent course.
Figure 1: An example of a typical hypolobated micromegakaryocyte in a bone marrow aspirate smear. (Wright-Giemsa)
Pathology The bone marrow is characterized by an increase in the number of small megakaryocytes with monolobulated and bilobulated nuclei. There are less than 1% blasts in the peripheral blood and less than 5% blasts in the bone marrow and Auer Rods are absent (Arber et al., 2016).
Treatment MDS patients with isolated del(5q) have a favorable prognosis and the majority of patients respond well to treatment with lenalidomide.
Prognosis This subtype of MDS has a favorable prognosis. The exception is when this disease is associated with mutations in TP53.


Cytogenetics Morphological As its name implies, in this entity there is interstitial deletion of part of the long arm of chromosome 5 involving 5q31-5q33. MDS with isolated del(5q) can still be diagnosed if there is 1 additional cytogenetic abnormality besides del(5q) if there is no adverse effect of that abnormality, as such, this excludes for instance (Arber et al., 2016).
  Figure 2: The karyotype in a case of MDS with isolated del(5q) showing 46,XX,del(5)(q22q35). Image courtesy of Dana Bangs, CG(ASCP), Stanford University.
Cytogenetics Molecular The gene specific for the defect seen in MDS with isolated del(5q) has been identified by RNA interference screening to be RPS14 (Pellagatti et al., 2008). In addition, while patients with MDS with isolated del(5q) classically have a favorable prognosis, the presence of a TP53 mutation is of particular importance, this mutation predicts for poorer prognosis and higher risk of transformation to AML (Mallo et al.,2013).

Genes involved and Proteins

Gene NameRPS14 (ribosomal protein S14)
Location 5q33.1
Protein RPS14 is a ribosomal gene located in commonly deleted region (CDR) of 5q. It encodes for a protein required for maturation of 40S ribosomal subunits. Patients with MDS with del(5q) are haploinsufficient for RPS14 which leads to impairment of ribosome biogenesis and subsequent reduction of protein translation.
Gene NameTP53 (Tumour protein p53 (Li-Fraumeni syndrome))
Location 17p13.1
Protein The TP53 gene encodes for the tumor suppressor protein p53. In the presence of DNA -damage p53 may be activated to fix the damage, or if the damage cannot be repaired p53 prevents the cell from dividing and signals the cell to undergo apoptosis.


Reclassifying myelodysplastic syndromes: what's where in the new WHO and why
Arber DA, Hasserjian RP
Hematology Am Soc Hematol Educ Program 2015;2015:294-8
PMID 26637736
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia
Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW
Blood 2016 May 19;127(20):2391-405
PMID 27069254
Clinical and genetic predictors of prognosis in myelodysplastic syndromes
Bejar R
Haematologica 2014 Jun;99(6):956-64
PMID 24881041
Survival, prognostic factors and rates of leukemic transformation in 381 untreated patients with MDS and del(5q): a multicenter study
Germing U, Lauseker M, Hildebrandt B, Symeonidis A, Cermak J, Fenaux P, Kelaidi C, Pfeilstöcker M, Nösslinger T, Sekeres M, Maciejewski J, Haase D, Schanz J, Seymour J, Kenealy M, Weide R, Lübbert M, Platzbecker U, Valent P, Götze K, Stauder R, Blum S, Kreuzer KA, Schlenk R, Ganser A, Hofmann WK, Aul C, Krieger O, Kündgen A, Haas R, Hasford J, Giagounidis A
Leukemia 2012 Jun;26(6):1286-92
PMID 22289990
TP53 mutations in low-risk myelodysplastic syndromes with del(5q) predict disease progression
Jädersten M, Saft L, Smith A, Kulasekararaj A, Pomplun S, Göhring G, Hedlund A, Hast R, Schlegelberger B, Porwit A, Hellström-Lindberg E, Mufti GJ
J Clin Oncol 2011 May 20;29(15):1971-9
PMID 21519010
Impact of adjunct cytogenetic abnormalities for prognostic stratification in patients with myelodysplastic syndrome and deletion 5q
Mallo M, Cervera J, Schanz J, Such E, García-Manero G, Luño E, Steidl C, Espinet B, Vallespí T, Germing U, Blum S, Ohyashiki K, Grau J, Pfeilstöcker M, Hernández JM, Noesslinger T, Giagounidis A, Aul C, Calasanz MJ, Martín ML, Valent P, Collado R, Haferlach C, Fonatsch C, Lübbert M, Stauder R, Hildebrandt B, Krieger O, Pedro C, Arenillas L, Sanz M, Valencia A, Florensa L, Sanz GF, Haase D, Solé F
Leukemia 2011 Jan;25(1):110-20
PMID 20882045
Response to lenalidomide in myelodysplastic syndromes with del(5q): influence of cytogenetics and mutations
Mallo M, Del Rey M, Ibez M, Calasanz MJ, Arenillas L, Larráyoz MJ, Pedro C, Jerez A, Maciejewski J, Costa D, Nomdedeu M, Diez-Campelo M, Lumbreras E, González-Martínez T, Marugán I, Such E, Cervera J, Cigudosa JC, Alvarez S, Florensa L, Hernández JM, Solé F
Br J Haematol 2013 Jul;162(1):74-86
PMID 23614682
Isolated del(5q) in myeloid malignancies: clinicopathologic and molecular features in 143 consecutive patients
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
PMID 21523797
Haploinsufficiency of RPS14 in 5q- syndrome is associated with deregulation of ribosomal- and translation-related genes
Pellagatti A, Hellström-Lindberg E, Giagounidis A, Perry J, Malcovati L, Della Porta MG, Jädersten M, Killick S, Fidler C, Cazzola M, Wainscoat JS, Boultwood J
Br J Haematol 2008 Jul;142(1):57-64
PMID 18477045
p53 protein expression independently predicts outcome in patients with lower-risk myelodysplastic syndromes with del(5q)
Saft L, Karimi M, Ghaderi M, Matolcsy A, Mufti GJ, Kulasekararaj A, Göhring G, Giagounidis A, Selleslag D, Muus P, Sanz G, Mittelman M, Bowen D, Porwit A, Fu T, Backstrom J, Fenaux P, MacBeth KJ, Hellström-Lindberg E
Haematologica 2014 Jun;99(6):1041-9
PMID 24682512


This paper should be referenced as such :
Nahid Shahmarvand, Robert S Ohgami
del (5q) solely in Myelodysplastic syndrome
Atlas Genet Cytogenet Oncol Haematol. 2017;21(7):249-251.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 del(5q) solely in Myelodysplastic syndrome

External links

Mitelman databasedel(5q)
arrayMap (UZH-SIB Zurich)Morph ( 9986/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
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