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Hwang, Huh, Mun, Seong, and Chung: Myelodysplastic Syndrome Mimicking Idiopathic Thrombocytopenic Purpura
Original Article

Korean J Leg Med 2010;30(2):105-110.

Published online: 14 January 2010

DOI: https://doi.org/10.3343/kjlm.2010.30.2.105

Myelodysplastic Syndrome Mimicking Idiopathic Thrombocytopenic Purpura

Yusun Hwang, M.D.1, Jung-Won Huh, M.D.1, Yeung-Chul Mun, M.D.2, Chu-Myong Seong, M.D.2, Wha Soon Chung, M.D.1

1Department of Laboratory Medicine, Division of Hematology-Oncology, Seoul, Korea

2Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Korea

Corresponding author: Jung-Won Huh, M.D. Department of Laboratory Medicine, Mokdong Hospital, Ewha Womans University School of Medicine, 911-1 Mok-dong, Yangcheon-gu, Seoul 158-710, Korea Tel: +82-2-2650-5287, Fax: +82-2-2650-5091 E-mail: JungWonH@ewha.ac.kr

      Revised 23 July 200910 February 2010       Accepted 10 February 2010

Copyright © 2010 Korean Society for Legal Medicine

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Background:

In patients with isolated thrombocytopenia, but without significant dysplasia, diagnosis of idiopathic thrombocytopenic purpura (ITP) rather than myelodysplastic syndrome (MDS) may be taken into account. It is important to make an accurate diagnosis because different treatments are used for ITP and MDS. The purpose of this study was to investigate the clinical and hematologic features of patients who were initially diagnosed as ITP but had cytogenetic abnormalities.

Methods:

We retrospectively reviewed cytogenetic studies of 100 patients who were diagnosed as ITP from 2004 to 2009 at Mokdong Hospital of Ewha Womans University based on clinical features and hematologic studies. Bone marrow pathology was re-evaluated based on 2008 WHO classification. Cytogenetic analysis was performed by 24-48 hr culture of bone marrow aspirates without using mitogens and 20 metaphases were analyzed.

Results:

Of the 100 patients diagnosed as ITP initially, three patients (3%) had cytogenetic abnormalities. They had no thrombocytopenia-related symptoms and thrombocytopenia was found accidentally. The numbers of megakaryocytes in bone marrow were increased and dysplasia was not found in megakaryocyte, erythroid, and myeloid cell lineages. The proportion of blasts was within normal limits. Clonal chromosomal abnormalities found were der(1;7)(q10;p10), add(9)(q12), or t(7;11)(p22;q12). Presumptive diagnosis of MDS or diagnosis of idiopathic cytopenia of undetermined significance (ICUS) was made according to 2008 WHO classification. During the follow up, disease progression was not found.

Conclusions:

In patients with suspected ITP, cytogenetic analysis should be done. If specific clonal chromosomal abnormality is found, presumptive diagnosis of MDS has to be considered and close follow up is needed.

Keywords: Thrombocytopenia, ITP, MDS, Cytogenetics, WHO

REFERENCES

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Table 1.
Recurring chromosomal abnormalities in the MDS at diagnosis
Unbalanced Balanced
+8∗ t(11;16)(q23;p13.3)
-7 or del(7q) t(3;21)(q26.2;q22.1)
-5 or del(5q) t(1;3)(p36.3;q21.2)
del(20q)∗ t(2;11)(p21;q23)
-Y∗ inv(3)(q21q26.2)
i(17q) or t(17p) t(6;9)(p23;q34)
-13 or del(13q)  
del(11q)  
del(12p) or t(12p)  
del(9q)  
idic(X)(q13)  

∗ The presence of these abnormalities as the sole cytogenetic abnormality in the absence of morphologic criteria is not considered definitive evidence for MDS. In the setting of persistent cytopenias of undetermined origin, the other abnormalities shown are considered presumptive evidence of MDS in the absence of definitive morphologic features [2].

Table 2.
Clinical and CBC data in patients with presumptive diagnosis of MDS or ICUS
No. case Date∗ (months) Age (yr) Sex WBC (×109/L) Differential (%) Hb (g/L) Hct (%) MCV (fL) MCH (pg) MCHC (%) RDW (%) Plt (×109/L) Blast (%)
N L M E B
1 0 67 M 6.0 53.0 36.0 3.0 8.0 0.0 120 34.9 98.3 33.8 34.4 14.9 107 0
  6     7.0 63.0 30.0 1.0 0.0 0.0 127 36.0 95.0 33.5 35.3 15.1 62 0
  12     2.2 66.0 30.0 2.0 1.0 3.0 90 25.4 95.8 35.4 35.4 16.6 51 0
2 0 58 F 5.1 58.0 36.0 2.0 2.0 0.0 131 40.8 94.3 30.4 32.1 12.7 106 0
  4     5.7 44.0 44.0 7.0 5.0 0.0 133 41.2 95.8 30.9 32.3 12.8 122 0
  9     4.8 57.0 31.0 3.0 7.0 2.0 117 37.1 97.1 30.6 31.5 12.6 108 0
  12     5.5 44.3 43.9 6.0 4.5 1.3 129 40.5 97.6 31.1 31.9 13.4 166 0
  18     5.0 42.4 45.4 5.2 6.0 1.0 130 39.8 96.4 31.5 32.7 13.5 174 0
3 0 39 M 5.5 42.0 48.0 8.0 1.0 0.0 134 39.7 111.5 37.6 33.8 15.6 55 0
  6     6.6 44.4 48.8 5.8 0.8 0.2 130 36.8 105.7 37.4 35.3 14.9 58 0
  12     7.0 46.5 44.7 7.7 1.0 0.1 127 37.5 109.0 36.9 33.9 14.8 42 0
  30     7.9 47.0 47.0 6.0 0.0 0.0 127 37.4 108.7 36.9 34.0 14.8 46 0
  36     7.1 43.1 49.8 5.8 1.0 0.3 125 37.0 108.8 36.8 33.8 15.5 50 0

∗ Months after initial bone marrow study.

Abbreviations: ICUS, idiopathic cytopenia of undetermined significance; WBC, white blood cell; N, neutrophil; L, lymphocyte; M, monocyte; E, eosinophil; B, basophil; MCV, mean corpuscular volume; MCH, mean corpuscular hemoglobin; MCHC, mean corpuscular hemoglobin concentration; RDW, red cell distribution width; Plt, platelet.

Table 3.
Bone marrow findings and cytogenetics in patients with presumptive diagnosis or ICUS
No. case Date (months) BM cellularity (%) BM blast (%) M:E ratio BM dysplasia N of megakaryocyte∗ (/LPF) Fibrosis IPSS Cytogenetics
E M MK
1 0 20 3.2 2.2 - - - 4.7 - INT-1 46,XY,+1,der(1;7)(q10;p10)[6]/46,XY[14]
2 0 20 0.6 1.4 - - - 4.4 - INT-1 47,XX,+add(9)(q12)[16]/46,XX[4]
  4 40 0.6 1.5 - - - 7.0 - INT-1 47,XX,+add(9)(q12)[7]/46,XX[6]
  9 40-50 0.0 1.7 - - - 6.7 - INT-1 47,XX,+add(9)(q12)[8]/46,XX[12]
3 0 20 1.8 0.4 - - - 3.0 - INT-1 46,XY,t(7;11)(p22;q12)[5]/46,XY[15]

∗ Numbers of megakaryocytes in bone marrow biopsy by low power field microscopy (×100).

Abbreviations: ICUS, idiopathic cytopenia of undetermined significance; BM, bone marrow; M:E ratio, myeloid:erythroid ratio; E, erythroid cell lineage; M, myeloid cell lineage; MK, megakaryocyte lineage; IPSS, International Prognostic Scoring System; INT-1, intermediate-1.

Table 4.
Reported cases with MDS mimicking ITP∗
Case No. Date (months) Age Sex WBC (×109/L) Hb (g/L) MCV (fL) Plt (×109/L) Cytogenetics PAIgG IPSS Leukemic transformation
Ours 1 0 67 M 6.0 12.0 98.3 107 46,XY,+1,der(1;7)(q10;p10) - INT-1 No
    12     2.2 9.0 95.8 51        
  2 0 58 F 5.1 13.1 94.7 106 47,XX,+add(9)(q12) NT INT-1 No
    18     5.0 13.0 96.4 174        
  3 0 39 M 5.5 13.4 111.5 55 46,XY,t(7;11)(p22;q12) - INT-1 No
    36     7.1 12.5 108.8 50        
Ref 7 1 0 69 F 4.4 10.8 97.2 23 46,XX - Low No
    36     4.0 8.5 113.2 98        
  2 0 77 M 7.1 10.4 95.1 24 46,XY - Low No
    48     2.3 7.2 100.5 37        
  3 0 65 M 9.8 10.5 94.8 3 46,XY - Low No
    72     3.4 8.2 95.7 67        
  4 0 82 F 4.2 12.5 NT 41 46,XX NT Low No
    24     2.2 10.3 NT 55 46,XX,20q-      
  5 0 47 M 3.9 15.6 97.4 76 46,XY + INT-1 No
    48     3.6 12.2 95.1 102 46,XY      
Ref 8 1 0 58 M 9.3 12.3 - 7.8 46,XY + Low No
  2 0 72 M 10.9 11.8 - 1.5 47,XY,+8 + INT-1 No
  3 0 43 M 4.7 12.1 - 2.9 46,XY ± Low No

∗ Clonality was demonstrated by cytogenetics, abnormal DNA ploidy of megakaryocytes and skewed pattern of human androgen receptor (HUMARA).

Abbreviations: ITP, idiopathic thrombocytopenic purpura; WBC, white blood cell; MCV, mean corpuscular volume; Plt, platelet; PAIgG, platelet-associated IgG; IPSS, International Prognostic Scoring System; INT-1, intermediate-1; NT, not tested.

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