medigraphic.com

2020, Number 1

<< Back Next >>

Rev Hematol Mex 2020; 21 (1)

5q deletion syndrome

Arias-Mira DE

Language: Spanish
References: 15
Page: 56-60
PDF size: 266.67 Kb.


ABSTRACT

Background: The 5q deletion syndrome is the most frequent cytogenetic anomaly with the best prognosis in patients with myelodysplastic syndromes. It is characterized by macrocytic anemia, thrombocytosis and hypolobulated megakaryocytes, including a count lesser than 1% of blasts in peripheral blood and lesser than 5% in bone marrow.
Clinical case:A 83-year-old female patient, who consulted the emergency department for finding hemoglobin at 5.5 g/dL during routine examinations, and therefore required transfusion therapy. The fluorescent in situ hybridization study documented 46% positivity for the 5q31 deletion, so treatment with erythropoietin 6000 IU was started every 7 days and lenalidomide 10 mg/day for 21 days every month. At six months of follow-up, a significant clinical response was evident because patient did not require transfusion support.
Conclusions: Early diagnosis of 5q deletion syndrome by means of in situ fluorescent hybridization (FISH) facilitates timely treatment with lenalidomide and erythropoietin, which in turn reduces the transfusion requirement significantly and its complications due to iron overload, as well as the risk of progression to acute myeloid leukemia.


REFERENCES

  1. Gurney M, Patnaik M, Hanson C, Litzow M, Al-Kali A, Ketterling R, et al. The 2016 revised World Health Organization definition of ‘myelodysplastic syndrome with isolated del(5q)’; prognostic implications of single versus double cytogenetic abnormalities. Br J Haematol 2017;178:57-60. https://doi.org/10.1111/bjh.14636.

  2. Hong M, He G. The 2016 Revision to the World Health Organization Classification of Myelodysplastic Syndromes. J Transl Int Med 2016;5:139-143. https://dx.doi. org/10.1515%2Fjtim-2017-0002.

  3. Cogle C. Incidence and burden of the myelodysplastic syndromes. Curr Hematol Malig Rep 2015;10(3):272-281. doi: 10.1007/s11899-015-0269-y.

  4. Chavarri A, Massone R. Avances en los aspectos fisiopatológicos y terapéuticos del síndrome 5q menos. Hematología 2014;18(1):31-39.

  5. Talati C, Sallman D, List A. Lenalidomide: Myelodysplastic syndromes with del(5q) and beyond. Semin Hematol 2017;54(3):159-166. doi: 10.1053/j.seminhematol. 2017.06.003.

  6. Chesnais V, Renneville A, Toma A, Lambert J, Passet M, Dumont F, et al. Effect of lenalidomide treatment on clonal architecture of myelodysplastic syndromes without 5q deletion. Blood 2016;127(6):749-760. doi: 10.1182/ blood-2015-04-640128.

  7. Arcioni F, Roncadori A, Di Battista V, Tura S, Covezzoli A, Cundari S y col. Lenalidomide treatment of myelodysplastic syndromes with chromosome 5q deletion. Results from the National Registry of the Italian Drug Agency. Eur J Haematol 2018;101(1):78-85. doi: 10.1111/ejh.13067.

  8. Santini V, Almeida A, Giagounidis A, Gropper S, Jonasova A, Vey N, et al. Randomized phase III study of lenalidomide versus placebo in RBC transfusion-dependent patients with lower-risk non-del(5q) myelodysplastic syndromes and ineligible for or refractory to erythropoiesis-stimulating agents. J Clin Oncol 2016;34(25):2988-96. DOI: 10.1200/ JCO.2015.66.0118.

  9. Schuler E, Giagounidis A, Haase D, Shirneshan K, Busche G, Platzbecker U, et al. Results of a multicenter prospective phase II trial investigating the safety and efficacy of lenalidomide in patients with myelodysplastic syndromes with isolated del(5q) (LE-MON 5). Leukemia 2016;30(7):1580-2. doi: 10.1038/leu.2015.340.

  10. Balaian E, Schuster C, Schönefeldt C, Germing U, Haase D, Tuve S. Selective expansion of regulatory T cells during lenalidomide treatment of myelodysplastic syndrome with isolated deletion 5q. Ann Hematol 2016;95(11):1805-10. doi: 10.1007/s00277-016-2775-y.

  11. Fenaux P, Giagounidis A, Selleslag D, Beyne-Rauzy O, Mittelman M, Muus P, et al. Clinical characteristics and outcomes according to age in lenalidomide-treated patients with RBC transfusion-dependent lower-risk MDS and del(5q). J Hematol Oncol 2017;10(1):131. doi: 10.1186/s13045- 017-0491-2.

  12. Giagounidis A, Mufti GJ, Mittelman M, Sanz G, Platzbecker U, Muus P, et al. Outcomes in RBC transfusion-dependent patients with Low-/Intermediate-1-risk myelodysplastic syndromes with isolated deletion 5q treated with lenalidomide: a subset analysis from the MDS-004 study. Eur J Haematol 2014;93(5):429-38. doi: 10.1111/ejh.12380.

  13. Alkharabsheh OA, Saadeh SS, Zblewski DL, Gangat N, Begna KH, Elliott MA, et al. Frequency of venous thrombotic events in patients with myelodysplastic syndrome and 5q deletion syndrome during lenalidomide therapy Ann Hematol 2019;98(2):331-337. doi: 10.1007/s00277- 018-3509-0.

  14. Messingerová L, Jonášová A, Barančik M, Poleková L, Šereš M, et al. Lenalidomide treatment induced the normalization of marker protein levels in blood plasma of patients with 5q-myelodysplastic syndrome. Gen Physiol Biophys 2015;34:399-406. DOI: 10.4149/gpb_2015012.

  15. Toma A, Kosmider O, Chevret S, Delaunay J, Stamatoullas A, Rose C, et al. Lenalidomide with or without erythropoietin in transfusion-dependent erythropoiesis-stimulating agentrefractory lower-risk MDS without 5q deletion. Leukemia 2016;30(4):897-905. doi: 10.1038/leu.2015.296.




2020     |     www.medigraphic.com