Case report | Volume 5, Article 4, 06 Jan 2021 | 10.11604/pamj-cm.2021.5.4.20644

5q-syndrome a case report with review of the literature

Taoufik Rokni, Ilham Karrati, Hicham Yahyaoui, Mustapha Ait Ameur, Mohamed Chakour

Corresponding author: Taoufik Rokni, Laboratory of Hematology, Military Hospital Avicenne, Marrakech, Morocco

Received: 13 Oct 2019 - Accepted: 23 Dec 2020 - Published: 06 Jan 2021

Domain: Internal medicine

Keywords: MDS, 5q-, cytology, cytogenetic, prognosis, MLA

©Taoufik Rokni et al PAMJ - Clinical Medicine (ISSN: 2707-2797). This is an Open Access article distributed under the terms of the Creative Commons Attribution International 4.0 License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Cite this article: Taoufik Rokni et al . 5q-syndrome a case report with review of the literature. PAMJ - Clinical Medicine. 2021;5:4. [doi: 10.11604/pamj-cm.2021.5.4.20644]

Available online at:

Home | Volume 5 | Article number 4

Case report

5q-syndrome a case report with review of the literature

5q-syndrome a case report with review of the literature

Taoufik Rokni1,&, Ilham Karrati1, Hicham Yahyaoui1, Mustapha Ait Ameur1, Mohamed Chakour1


1Laboratory of Hematology, Military Hospital Avicenne, Marrakech, Morocco



&Corresponding author
Taoufik Rokni, Laboratory of Hematology, Military Hospital Avicenne, Marrakech, Morocco




5q-syndrome is a unique paradigm of myelodysplastic syndrome (MDS) characterized by the correlation between cytology and cytogenetics and the low risk of clinical progression. It is a category apart in myelodysplastic syndromes (MDS) because of hematological peculiarities, the pathophysiology that remains unknown, and the refractoriness of the anemia with which it is associated. It is a pathology that affects the female sex with predilection. The prognosis of the disease remains good and the risk of malignant transformation into acute leukemia does not exceed 15%. In this work, we report a typical case of SMD with deletion of the long arm of chromosome 5 in order to describe the observation of this particular entity diagnosed in our formation, rare in our Moroccan context and that we must know how to evoke in front of a refractory anemia most often isolated.



Introduction    Down

Myelodysplastic syndromes (MDS) are acquired bone marrow disorders characterized by pancytopenia, morphological and functional abnormalities of hematopoiesis and a risk of transformation into acute myeloid leukemia (AML). The karyotype anomaly identified so far in this group of diseases is a deletion of the long arm of chromosome 5 (del (5q)) occurring in 10 to 15% of patients. This chromosomal anomaly with refractory macrocytic anemia, normal to high platelet count, normal to moderately reduced leukocyte count, and a significant number of hypolobulated megacaryocytes in the bone marrow is highly predictive of the 5q-syndrome.



Patient and observation Up    Down

Our patient is a 67-year-old woman who was hospitalized for a check-up of recurrent episodes of epistaxis over a year with no other bleeding signs associated with asthenia in a context of general state maintenance. The patient was diabetic under oral anti-diabetic drugs and her clinical examination was without particularity. The blood count indicated a hemoglobin of 9.7 g/dl, a GMV of 98.1 fl, a TCMH of 30.9 pg of leukocytes of 11 G/L, platelets of 673 G/L. The blood smear showed many platelet aggregates. The myelogram showed a very rich bone marrow with many megacaryocytes all dystrophic with mono lobed round eccentric round nuclei with sometimes micro-megacaryocytes and many platelet aggregates. The remaining lines did not show any significant cytological abnormalities except for a few signs of dysgranulopoiesis (Figure 1). The cytogenetic study carried out on medullar blood showed a clonal structural anomaly. Five (5) of the 11 mitoses classified had a del (5) (q13q33). The diagnosis of 5q-syndrome was made before the clinic (refractory anemia), cytological, cytogenetic abnormalities and the patient was placed on recombinant erythropoietin (Epoetin beta 30000 IU/week) with good clinical and cytological progression.



Discussion Up    Down

5q syndrome was first described by Van den Berghe in 1974 in three patients with refractory anemia and interstitial deletion of the long arm of chromosome 5 [1]. There is a particular interest in 5q- syndrome due to the large number of genes encoding hemopoietic growth factors or their receptors located on the long arm of chromosome 5. A detailed description of the clinical and hematological characteristics of patients with refractory anemia (RA) and 5q chromosome deletion was provided by Sokal et al. [2]. The patients were predominantly female and all had refractory macrocytic anemia, moderate leukopenia, normal or high platelet count, hypoplastic erythroid bone marrow with hypolobulated megacaryocytes. The constellation of characteristics described by these investigators was called 5q-syndrome, which is now recognized as a clinical entity distinct from MDS with a favourable prognosis and a low risk of transformation into acute leukemia. The average age of patients at the time of presentation is 66 years. Patients under 50 years of age represent only 15% of cases [1-3].


One of the most striking aspects of the 5q syndrome is the female preponderance, which is unusual, not only for MDS and leukaemia, but for malignant tumours in general. The preponderance of older women led Van den Berghe et al. to suggest the possibility of a toxic agent in the domestic environment [1]. The platelet count in 5q-syndrome is generally normal or increased and moderate leukopenia is often associated. Monolobular megacaryocytes are a consistent conclusion in all reports of 5q syndrome, they are not specific to this syndrome and have been reported in patients with MDS with normal or abnormal karyotypes [4,5]. 5q- is one of the most common karyotypic abnormalities observed in MDS. However, most studies concluded that 5q- is interstitial; the most frequently cited stopping points are 5q12-14 (proximal rupture point) and 5q31-33 (distal rupture). Part of the variability of deletion arrest points may result from difficulties in interpreting some leukemic chromosome preparations. Mitelman et al. reported identical stopping points del (5) (q13.3; q33.1) in 15 MDS patients using high resolution techniques, raising the possibility that this particular deletion was common to all cases of 5q syndrome [6-8]. In the majority of patients with myelodysplastic syndrome (MDS), 5q deletion was the only abnormality at diagnosis. It remains to be shown whether the proximal rupture point on chromosome 5q has a prognostic impact.


With regard to the latter, all studies confirmed the favourable prognosis of MDS with 5q deletion and without excess blasts, i.e. 5q-syndrome - according to the WHO classification. Giagounidis found, and through a study that included 76 patients, that the median survival time of patients is 145 months for a median follow-up period of 67 months. Patients with an additional chromosomal abnormality have a median survival time of 45 months. Interestingly, among patients with an additional chromosomal abnormality (14 patients), only one patient had advanced MDS (RAEB). The remaining 13 patients had an increase in the number of spinal cord blasts. Patients with spinal blastosis greater than 5% have significantly shorter overall survival (24 months) compared to those with blastosis of less than 5%. The cumulative development of AML in patients with less than 5% blast cells in the bone marrow and with an isolated deletion (5q) did not exceed 9% [9]. This probability reaches 80% in patients with more than 5% blasts in the bone marrow. There is no significant difference in overall survival between men and women (P0.09). However, the Düsseldorf group showed that the median survival of patients with 5q- syndrome was significantly lower than that of a population of the same age and sex, both in women and men [10,11]. Although basic morphological abnormalities have been provided and the disease has been recognized as a separate entity by the WHO Neoplastic Disease Classification Committee, a detailed description of this subgroup of patients is missing to date.


A complex issue is the relationship between 5q- syndrome and other associated myeloid disorders, particularly secondary leukaemias. The frequent association of chromosome abnormalities with these malignant tumours was first reported by Rowley [12]. The overall proportion of patients with MDS 5q- and secondary leukaemia is no greater than the proportion of patients with MDS 5q- and primary leukaemia. In addition, 5q- syndrome in secondary leukaemias usually occurs in the context of a complex karyotype, for example, only 2 out of 300 cases in 4 large series were found to have del 5q- as the only anomaly [3,8,13]. Treatment of 5q- syndrome was largely dominated by erythrocyte transfusions before the advent of lenalidomide, with other therapeutic modalities rarely applicable or of limited efficacy. Allografting of stem cells may be proposed in relatively young patients with an identical human leukocyte antigen (HLA) donor, who do not respond to other treatments, or who are at high risk of hematological progression [6,11].



Conclusion Up    Down

Little is known about the relationship between 5q- syndrome and other MDS subtypes. The history of these disorders is very different, suggesting the presence of different underlying anomalies. Importantly, the good prognosis of 5q- syndrome and its rare transformation into leukaemia contrasts with the poor prognosis and clinically aggressive course of other MDS.



Competing interests Up    Down

The authors declare no competing interests.



Authors' contributions Up    Down

All the authors have read and agreed to the final manuscript.



Figures Up    Down

Figure 1: (A,B) spinal cord smear (objective 100): mono-lobed mega karyocyte with eccentric nucleus



References Up    Down

  1. Van den Berghe H, Michaux L. 5q-, twenty-five years later: a synopsis. Cancer Genet Cytogenet. 1997 Mar;94(1):1-7. PubMed | Google Scholar

  2. Sokal G, Michaux JL, Van den Berghe H, Cordier A, Rodham J, Ferrant A et al. A new hematological syndrome with a distinct karyotype: The 5q- chromosome. Blood. 1975 Oct;46(4):519-33. PubMed | Google Scholar

  3. Van den Berghe H, Vermaelen K, Mecucci C, Barbieri D, Tricot G. The 5q-anomaly. Cancer Genet Cytogenet. 1985 Jul;17(3):189-255. PubMed | Google Scholar

  4. Arber DA, Orazi A, Hasserjian R. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016 May 19;127(20):2391-405. PubMed | Google Scholar

  5. Charikleia Kelaidi, Ana Oliveira Da Rocha, Pierre Fenaux. Syndrome 5q- : caractéristiques hématologiques, physiopathologie et traitement. Revue d´ Hématologie. 2008;14(4): 259-69.

  6. Raza A, Reeves JR, Feldman EJ. Long Term Clinical Benefit of Lenalidomide (Revlimid) Treatment in patients with myelodysplastic syndrome without Del 5q cytogenetic abnormalities. Blood. 2008;108(11):86-93. Google Scholar

  7. Zhao N, Stoffel A, Wang PW et al. Molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases to 1-1.5 Mb and preparation of a PAC-based physical map. Proc Natl Acad Sci USA. 1997 Jun 24;94(13):6948-53. PubMed | Google Scholar

  8. Boultwood J, Lewis S, Wainscoat JS. The 5q-syndrome. Blood. 1994 Nov 15;84(10):3253-60. PubMed | Google Scholar

  9. Pedersen B, Jensen IM. Clinical and prognostic implications of chromosome 5q deletions: 96 high resolution studied patients. Leukemia 1991;5:566-73. Google Scholar

  10. Giagounidis AA, Germing U, Aul C. Biological and prognostic significance of chromosome 5q deletions in myeloid malignancies. Clin Cancer Res. 2006 Jan 1;12(1):5-10. PubMed | Google Scholar

  11. Sheng W, Kathy R, Ann W, Xianhong C, Burnette PK, Julie Y Djeu et al. Gene dosage of the cell cycle regulatory phosphatases Cdc25C and P2A determines sensitivity to lenalidomide in del(5q) MDS. Blood. 2007;110(11):43a. Google Scholar

  12. Boultwood J, Fidler C, Strickson AJ, Watkins F, Gama S, Kearney L et al. Narrowing and genomic annotation of the commonly deleted region of the 5q-syndrome. Blood. 2002 Jun 15;99(12):4638-41. PubMed | Google Scholar

  13. Liu TX, Becker MW, Jelinek J, Wu WS, Deng M, Mikhalkevich N et al. Chromosome 5q deletion and epigenetic suppression of the gene encoding alpha-catenin (CTNNA1) in myeloid cell transformation. Nat Med. 2007 Jan;13(1):78-83. PubMed | Google Scholar






























Case report

5q-syndrome a case report with review of the literature

Case report

5q-syndrome a case report with review of the literature

Case report

5q-syndrome a case report with review of the literature

Volume 5 (Jan - Apr 2021)
This article authors
On Pubmed
On Google Scholar
Citation [Download]
Reference Manager

Navigate this article
Key words







Article metrics
PlumX Metrics
5q-syndrome a case report with review of the literature