Ann Lab Med.  2014 Nov;34(6):466-468. 10.3343/alm.2014.34.6.466.

A Case of Refractory Thrombocytopenia with 5q Deletion: Myelodysplastic Syndrome Mimicking Idiopathic Thrombocytopenic Purpura

• Chang J
• Park CJ
• Seo EJ
• Lee JH
• Park SH
• Cho YU
• Jang S

• KMID: 2129573
• DOI: http://doi.org/10.3343/alm.2014.34.6.466

Abstract

No abstract available.

MeSH Terms

Bone Marrow/pathology
*Chromosome Deletion
Diagnosis, Differential
Female
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Middle Aged
Purpura, Thrombocytopenic, Idiopathic/diagnosis
Thrombocytopenia/*diagnosis

Figure

• 

  Fig. 1 Peripheral blood and bone marrow findings. (A) Peripheral blood smear showing reduced platelet counts and giant platelets (Wright stain, ×1,000). (B) Bone marrow aspirate showing micromegakaryocytes (left) and megakaryocytes with separated nuclei (right). The arrows indicate micromegakaryocytes (Wright stain, ×1,000). (C) Bone marrow clot sections showing increased numbers of megakaryocytes. Hematoxylin and eosin staining (left) and immunohistochemical staining for CD61 (right). The arrows indicate megakaryocytes (×400).

• 

  Fig. 2 Karyotype and FISH analyses. (A) Chromosomal analysis showing the patient's karyotype,46,XX,del(5)(q15q31) (Giemsa banding).The arrow indicates abnormal chromosome 5. (B) Interphase (left) and metaphase FISH (right) analyses showing two green and two orange signals indicating that no EGR1 deletion had occurred.

Reference

1. Vardiman JW. The World Health Organization (WHO) classification of tumors of the hematopoietic and lymphoid tissues: an overview with emphasis on the myeloid neoplasms. Chem Biol Interact. 2010; 184:16–20. PMID: 19857474.

2. Cines DB, Blanchette VS. Immune thrombocytopenic purpura. N Engl J Med. 2002; 346:995–1008. PMID: 11919310.

3. Sashida G, Takaku TI, Shoji N, Nishimaki J, Ito Y, Miyazawa K, et al. Clinico-hematologic features of myelodysplastic syndrome presenting as isolated thrombocytopenia: an entity with a relatively favorable prognosis. Leuk Lymphoma. 2003; 44:653–658. PMID: 12769343.

4. Giagounidis AA, Germing U, Haase S, Hildebrandt B, Schlegelberger B, Schoch C, et al. Clinical, morphological, cytogenetic, and prognostic features of patients with myelodysplastic syndromes and del(5q) including band q31. Leukemia. 2004; 18:113–119. PMID: 14586479.

5. Menke DM, Colon-Otero G, Cockerill KJ, Jenkins RB, Noel P, Pierre RV. Refractory thrombocytopenia. A myelodysplastic syndrome that may mimic immune thrombocytopenic purpura. Am J Clin Pathol. 1992; 98:502–510. PMID: 1485603.

6. Pamuk GE, Pamuk ON, Başlar Z, Ongören S, Soysal T, Ferhanoğlu B, et al. Overview of 321 patients with idiopathic thrombocytopenic purpura. Retrospective analysis of the clinical features and response to therapy. Ann Hematol. 2002; 81:436–440. PMID: 12224000.

7. Germing U, Strupp C, Kuendgen A, Isa S, Knipp S, Hildebrandt B, et al. Prospective validation of the WHO proposals for the classification of myelodysplastic syndromes. Haematologica. 2006; 91:1596–1604. PMID: 17145595.

8. Sun Y, Cook JR. Fluorescence in situ hybridization for del(5q) in myelodysplasia/acute myeloid leukemia: comparison of EGR1 vs. CSF1R probes and diagnostic yield over metaphase cytogenetics alone. Leuk Res. 2010; 34:340–343. PMID: 19608274.