Share this Article
Padhi S, Varghese RG, Phansalkar MD, Sarangi R
Correspondence: Dr Somanath Padhi, firstname.lastname@example.org
Isolated deletion of the long arm of chromosome 20 [del(20q12)] is a rare abnormality in patients with de novo myelodysplastic syndrome. It is characterised by refractory thrombocytopenia, minimal haematological dysplasia and a lower risk for progression to acute myeloid leukaemia. Its distinction from chronic autoimmune thrombocytopenia, although clinically and morphologically difficult, is critical. We report a case of refractory cytopenia and unilineage dysplasia in an elderly woman with isolated del(20q12), identified via fluorescence in situ hybridisation analysis of her bone marrow. In order to avoid a misdiagnosis, we suggest that cytogenetic analysis be performed on all patients suspected to have myelodysplastic syndrome with predominant thrombocytopenic presentation.
Keywords: del20q12, FISH, myelodysplastic syndrome, thrombocytopenia
Singapore Med J 2013; 54(9): e185-e189; http://dx.doi.org/10.11622/smedj.2013119
|1. Kawankar N, Vundinti BR. Cytogenetic abnormalities in myelodysplastic syndrome: an overview. Hematology 2011; 16:131-8.
|2. Bernasconi P, Klersy C, Boni M, et al. World Health Organization classification in combination with cytogenetic markers improves the prognostic stratification of patients with de novo primary myelodysplastic syndromes. Br J Haematol 2007; 137:193-205.
|3. Asimakopoulos FA, White NJ, Nacheva E, Green AR. Molecular analysis of chromosome 20q deletions associated with myeloproliferative disorders and myelodysplastic syndromes. Blood 1994; 84:3086-94.|
|4. Brezinová J, Zemanová Z, Ransdorfová S, et al. Prognostic significance of del(20q) in patients with hematological malignancies. Cancer Genet Cytogenet 2005; 160:188-92.
|5. Mullier F, Daliphard S, Garand R, et al. Morphology, cytogenetics, and survival in myelodysplasia with del(20q) or ider(20q): a multicenter study. Ann Hematol 2012; 91:203-13.
|6. Braun T, de Botton S, Taksin AL, et al. Characteristics and outcome of myelodysplastic syndromes (MDS) with isolated 20q deletion: a report on 62 cases. Leuk Res 2011; 35:863-7.
|7. Qin S, Liu SH, Bo LJ, et al. [Clinical and cytogenetic features of 29 cases of myelodysplastic syndrome associated with del(20q).] Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2004; 21:171-2. Chinese.|
|8. Smoley SA, Fink SR, Paternoster SF, et al. Frequency, hematopathology, and detection of a new isodicentric variant of deletion 20q. Cancer Genet Cytogenet 2007; 173:144-9.
|9. Gupta R, Soupir CP, Johari V, Hasserjian RP. Myelodysplastic syndrome with isolated deletion of chromosome 20q: an indolent disease with minimal morphological dysplasia and frequent thrombocytopenic presentation. Br J Haematol 2007; 139:265-8.
|10. Liu YC, Ito Y, Hsiao HH, et al. Risk factor analysis in myelodysplastic syndrome patients with del (20q): prognosis revisited. Cancer Genet Cytogenet 2006; 171:9-16.
|11. Wattel E, Laï JL, Hebbar M, et al. De novo myelodysplastic syndrome (MDS) with deletion of the long arm of chromosome 20: a subtype of MDS with distinct haematological and prognostic features? Leuk Res 1993; 17:921-6.
|12. Campbell LJ, Garson OM. The prognostic significance of deletion of the long arm of chromosome 20 in myeloid disorders. Leukemia 1994; 8:67-71.|
|13. Douet-Guilbert N, Herry A, LE Bris MJ, et al. Interphase FISH does not improve the detection of DEL(5q) and DEL(20q) in myelodysplastic syndromes. Anticancer Res 2011; 31:1007-10.|
|14. Pitchford CW, Hettinga AC, Reichard KK. Fluorescence in situ hybridization testing for -5/5q, -7/7q, +8, and del(20q) in primary myelodysplastic syndrome correlates with conventional cytogenetics in the setting of an adequate study. Am J Clin Pathol 2010; 133:260-4.
|15. Makishima H, Rataul M, Gondek LP, et al. FISH and SNP-A karyotyping in myelodysplastic syndromes: improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q). Leuk Res 2010; 34:447-53.