Korean J Lab Med.  2010 Apr;30(2):105-110. 10.3343/kjlm.2010.30.2.105.

Myelodysplastic Syndrome Mimicking Idiopathic Thrombocytopenic Purpura

• Hwang Y
• Huh JW
• Mun YC
• Seong CM
• Chung WS

• KMID: 1096793
• DOI: http://doi.org/10.3343/kjlm.2010.30.2.105

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.

Keyword

Thrombocytopenia; ITP; MDS; Cytogenetics; WHO

MeSH Terms

Adult
Bone Marrow Cells/cytology
Cell Lineage
Chromosome Aberrations
Diagnosis, Differential
Female
Humans
Male
Megakaryocytes/immunology/pathology
Middle Aged
Myelodysplastic Syndromes/*diagnosis/genetics/pathology
Purpura, Thrombocytopenic, Idiopathic/*diagnosis/genetics/pathology
Retrospective Studies

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