Indonesian Journal of Clinical Pathology and Medical Laboratory (IJCPML)
Vol 28, No 2 (2022)

Abnormal Complex Karyotyping in A Patient Suspected of Acute Myeloblastic Leukemia (AML-M5): A Case Study

Purbosari Purbosari (Department of Clinical Pathology, Faculty of Medicine, Gadjah Mada University/Dr. Sardjito Hospital, Yogyakarta)
Usi Sukorini (Department of Clinical Pathology, Faculty of Medicine, Gadjah Mada University/Dr. Sardjito Hospital, Yogyakarta)
Rahmat Dani Satria (Department of Clinical Pathology, Faculty of Medicine, Gadjah Mada University/Dr. Sardjito Hospital, Yogyakarta)
Tri Ratnaningsih (Department of Clinical Pathology, Faculty of Medicine, Gadjah Mada University/Dr. Sardjito Hospital, Yogyakarta)
Setyawati Setyawati (Department of Clinical Pathology, Faculty of Medicine, Gadjah Mada University/Dr. Sardjito Hospital, Yogyakarta)



Article Info

Publish Date
03 Jun 2022

Abstract

Hemophagocytic Lymphohistiocytosis (HLH) is a condition of immune dysregulation characterized by severe organ damage induced by a hyperinflammatory response and uncontrolled T-cell and macrophage activation. Patients with Acute Myeloblastic Leukemia (AML) may be prone to develop HLH. Hemophagocytic lymphohistiocytosis syndrome in AMLpatients with an abnormal complex karyotyping can worsen the patients' prognosis and outcome. A 47-year-old-female presented with prolonged fever, chills, fatigue, weight loss, productive cough, and anemia (blood transfusion (+)). Laboratory findings: hemoglobin 8.5 g/dL, WBC 151.99x103/μL, and platelet count 28x103/μL, peripheral blood 13% blast like cells, 19% promonocytes, 43% atypical (bizarre) monocytes, 25% neutrophils. Levels of CRP>150 mg/L and procalcitonin 82.67 ng/mL, negative HBsAg, and positive IGRA test. Bone marrow morphology showed hypercellularity, decreased thrombopoiesis and erythropoiesis, increased granulopoiesis, macrophages, and hemophagocytosis. Karyotyping results: abnormal karyotypes: 46: XX (9 cells), 44: X (-18), 45: XX (-4), 45: XX (+7, -2, -16), 46: XX (chtb (3), chtb (4), chtb (5), chtb (9), chtb (12), chtb (22)), 46: XX (chtb (5), chtb (7)), 46: XX (chtb (6), chtb (12)), 46: XX (dic 2), 46: XX (chtb (1) (q12), chtb (3) (p21)), 46: XX (chtb (X) (q25) ), 46: XX (der (9), dic (9)), t (9:22)), 46: XX ((+ 21), (-13) chtb (2), p (23), t ( 9:22)). The conclusion was abnormal complex karyotyping. High concentrations of inflammatory cytokines (interleukin-1, interleukin-6, TNF-alpha, and interferon-gamma) secreted by malignant cells and increased phagocytic function of leukemic cells play an important role in the pathogenesis of HLH. Monocytic components (subtypes AML4 and AML5 of the FAB classification) are predisposing factors in cases of AML-related HLH. Cytogenetic abnormalities involving 8p11 and 16p13 are more common in AML-related HLH. Complex genetic abnormalities exacerbate the prognosis of AML, especially in treatment failure. A concluded that was diagnosed with HLH due to AML-M5 with genetic abnormalities of BCR ABL (+), monosomy, trisomy, and multiple chromatid breakage with high mortality. Karyotyping examination is important to determine the prognosis of the disease.

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Journal Info

Abbrev

patologi

Publisher

Subject

Biochemistry, Genetics & Molecular Biology Health Professions Medicine & Pharmacology Neuroscience

Description

Indonesian Journal of Clinical Pathology and Medical Laboratory (IJCPML) is a journal published by “Association of Clinical Pathologist” professional association. This journal displays articles in the Clinical Pathology and Medical Laboratory scope. Clinical Pathology has a couple of ...