A Case of Hemophagocytic Lymphohistiocytosis with Clonal Karyotype Abnormalities

Gae-Ryung Choi; Ha-Nui Kim; Chi-Hyun Cho; Byoung-Joon Yoo; Myung-Han Kim; Jang-Su Kim; Chae-Seung Lim; Kap No Lee

doi:10.3343/lmo.2011.1.2.8

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Choi, Kim, Cho, Yoo, Kim, Kim, Lim, and Lee: A Case of Hemophagocytic Lymphohistiocytosis with Clonal Karyotype Abnormalities

Case Report

Diagnostic Hematology

Laboratory Medicine Online

Laboratory Medicine Online 2011; 1(2): 110-114.

Published online: 1 April 2011

DOI: https://doi.org/10.3343/lmo.2011.1.2.8

A Case of Hemophagocytic Lymphohistiocytosis with Clonal Karyotype Abnormalities

Gae-Ryung Choi, Ha-Nui Kim, Chi-Hyun Cho, Byoung-Joon Yoo, Myung-Han Kim, Jang-Su Kim, Chae-Seung Lim, Kap No Lee

Department of Laboratory Medicine, College of Medicine, Korea University, Seoul, Korea.

Corresponding author: Chae-Seung Lim. Department of Laboratory Medicine, Korea University Guro Hospital, Guro 2-dong, Guro-gu, Seoul 152-703, Korea. Tel: +82-2-2626-1455, Fax: +82-2-2626-1465, malarim@korea.ac.kr

Received 3 August 2010 Revised 12 December 2010 Accepted 5 January 2011

(open-access):

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

There have been a few reports of hemophagocytic lymphohistiocytosis (HLH) with chromosomal abnormalities. Clonal chromosomal abnormalities in HLH patients are usually found in association with hematologic malignancies and rarely with epstein-barr virus (EBV) infection. Here, we report a fatal case of HLH with clonal karyotype abnormalities. A 75-yr-old man was admitted with persistent anorexia and high fever. Laboratory data revealed pancytopenia, hypofibrinogenemia, hyperferritinemia, prolonged prothrombin time and activated partial thromboplastin time, and marked elevated level of serum transaminases. In real time-PCR using whole blood, EBV DNA was not detected but cytomegalovirus (CMV) DNA was detected. The bone marrow aspiration smear showed hyperplasia of mature histiocytes with prominent hemophagocytosis. In chromosomal analysis of bone marrow aspirates, complex chromosomal abnormalities were found. In spite of steroid pulse therapy and antibiotic treatment, he died of disseminated intravascular coagulopathy.

Keywords: Hemophagocytic lymphohistiocytosis, Epstein-Barr virus cytomegalovirus, Chromosomal abnormality

Figures and Tables

Fig. 1

Bone marrow aspirate and biopsy findings of the patient with hemophagocytic lymphohistiocytosis. (A) Bone marrow aspirate smear shows benign-appearing histiocytes exhibiting prominent hemophagocytosis (Wright-Giemsa stain, ×1,000). (B) Bone marrow biopsy section shows increased numbers of diffusely scattered CD68(+) macrophages (Immunohistocytochemical stain for CD68, ×200).

Fig. 2

A Karyotype of patient with hemophogocytic lymphohistiocytosis showing 48,X,t(X;7)(p22.1;q11.2),add(3)(p21),t(4;16)(q31.1;q24), t(9;11)(p22;p11.2)+18,+r.

Table 1

Laboratory findings of the patient

Abbreviations: WBC, white blood cell; PT, prothrombin time; aPTT, activated partial tromboplastin time; FDP, fibrinogen degradation product; PSA, prostate specific antigen; FANA, fluorescent antinuclear antibody; ANCA, anti-neutrophil cytoplasmic antibody; VDRL,venereal disease research laboratory test; EBV, Ebstein-Barr virus.

Notes

This article is available from http://www.labmedonline.org

References

1. Kim KH, Kim SH, Lee JK, Cho YJ, Kim YK, Shin DH, et al. A case of Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis with clonal karyotype abnormality. Korean J Lab Med. 2005. 25:85–89.

2. Hoang MP, Dawson DB, Rogers ZR, Scheuermann RH, Rogers BB. Polymerase chain reaction amplification of archival material for Epstein-Barr virus, cytomegalovirus, human herpesvirus 6, and parvovirus B19 in children with bone marrow hemophagocytosis. Hum Pathol. 1998. 29:1074–1077.

3. Kim SY, Yoon JY, Lee SJ, Chung NG, Jang PS, Cho B, et al. The clinical manifestations of hemophagocytic lymphohistiocytosis. Korean J Pediatr Hematol-Oncol. 2003. 10:244–254.

4. Henter JI, Horne A, Aricó M, Egeler RM, Filipovich AH, Imashuku S, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007. 48:124–131.

5. Ito E, Kitazawa J, Aria K, Otomo H, Endo Y, Imashuku S, et al. Fetal Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis with clonal karyotype abnormality. Int J Hematol. 2000. 71:263–265.

6. Janka G, Imashuku S, Elinder G, Schneider M, Henter JI. Infection-and malignancy-associated hemophogocytic syndromes.Secondary hemophagoctic lymphohistocytosis. Hematol Oncol Clin North Am. 1998. 12:435–444.

7. Han K, Kim Y, Kahng J, Lee J, Moon Y, Kang C, et al. In situ hybridization studies of cytomegalovirus and Epstein-Barr virus in reactive histiocytic hyperplasia with hemophagocytosis. Acta Haematol. 1996. 96:140–145.

8. Akashi K, Hayashi S, Gondo H, Mizuno S, Harada M, Tamura K, et al. Involvement of interferon-gamma and macrophage colony-stimulating factor in pathogenesis of haemophagocytic lymphohistiocytosis in adults. Br J Haematol. 1994. 87:243–250.

9. Koizumi K, Haseyama Y, Machino R, Sato Y, Sawada K, Koike T. The hemophagocytic syndrome in prostate cancer revealed by disseminated carcinomatosis of the bone marrow. J Urol. 2002. 168:1101–1102.

10. Deepi A, Ruchika G, Sompal S, Kusum G, Madhur K. Hemophagocytic Lymphohistiocytosis in B-Cell lymphoproliferative disorder: Report of a Rare Association. Indian J Hematol Blood Transfus. 2010. 26:74–76.

11. Yao M, Cheng A, Su I. Clinicopathological spectrum of hemophagocytic sundrome in Epstein-Barr virus-associated peripheral T-cell lymphoma. Br J Haematol. 1994. 87:535–543.

12. Kaneko Y, Maseki N, Sakurai M, Ido M, Tsunematusu Y, Mizutani S, et al. Clonal and non-clonal karyotypically abnormal cells in haemopha-gocytic lymphohistiocytosis. Br J Haematol. 1995. 90:48–55.

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