Lab Med Online.  2011 Apr;1(2):110-114. 10.3343/lmo.2011.1.2.8.

A Case of Hemophagocytic Lymphohistiocytosis with Clonal Karyotype Abnormalities

• Choi GR
• Kim HN
• Cho CH
• Yoo BJ
• Kim MH
• Kim JS
• Lim CS
• Lee KN

• KMID: 1446278
• DOI: http://doi.org/10.3343/lmo.2011.1.2.8

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.

Keyword

Hemophagocytic lymphohistiocytosis; Epstein-Barr virus cytomegalovirus; Chromosomal abnormality

MeSH Terms

Anorexia
Bone Marrow
Chromosome Aberrations
Cytomegalovirus
DNA
Fever
Hematologic Neoplasms
Herpesvirus 4, Human
Histiocytes
Humans
Hyperplasia
Karyotype
Lymphohistiocytosis, Hemophagocytic
Pancytopenia
Partial Thromboplastin Time
Prothrombin Time
Transaminases
DNA
Transaminases

Figure

• 

  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).

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  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.

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