| 1. |
- Grund, Sofia, et al.
(author)
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CD69 is a good surrogate marker for IgVH gene mutation status in Swedish chronic lymphocytic leukemia (CLL) patients.
- 2010
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In: Acta Haematologica Polonica. - 0001-5814. ; 41:1, s. 53-61
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Journal article (peer-reviewed)abstract
- Chronic lymphocytic leukemia (CLL) patients with unmutated IgVH genes have poorer survival than patients with mutated IgVH genes. However, mutation analysis is not always available in the routine laboratory and therefore surrogate markers are needed. CD69 has in two previous studies been shown to be a marker for mutation status. Our aim was therefore to investigate if CD69 expression was a better marker for mutation status than ZAP-70 and CD38 in a sample of patients from the west of Sweden. We analyzed the expression of CD69 in CD19+ B cells from CLL patients and controls using flow cytometry. CD69 was higher expressed in B cells from CLL patients compared with controls (35±31% and 2.6±1.8% CD19+/CD69+ cells respectively, P=0.0010). Patients with unmutated IgVH genes had a higher percentage of CD19+/CD69+ cells compared with patients with mutated IgVH genes (70±24% vs. 18±12%, P=0.00076). Furthermore, there was a strong concordance, even better than for CD38 and ZAP-70, between expression of CD69 and IgVH mutation status (96%, P<0.0001). Thus, our data in combination with those from others indicate that CD69 may be an excellent surrogate marker for IgVH mutation status and ultimately survival. Furthermore, this analysis is well suited for routine analysis.
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| 2. |
- Lorenz, Fryderyk, et al.
(author)
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Wartosc diagnostyczna i zastosowanie kliniczne biomarkerów oraz ferrytynemii w chorobie Gauchera : [Diagnostic and clinical value of biomarkers and ferritinemia in Gaucher disease]
- 2014
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In: Acta Haematologica Polonica. - : Elsevier. - 0001-5814. ; 45:2, s. 149-154
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Research review (peer-reviewed)abstract
- Gaucher disease is a progressive, multisystem lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme, glucocerebrosidase (GBA), arising from autosomal recessive mutations in the GBA1 gene (1q21). There are several biomarkers used in Gaucher disease (i.e., chitotriosidase, CCL18/PARC, tartrate resistant acid phosphatase, angiotensin-converting enzyme), however, all of them have some disadvantages. It is believed that none of these biomarkers has a significant correlation with the clinical severity of Gaucher disease. A high proportion of patients with type 1 Gaucher disease present with hyperferritinemia, however, the pathophysiology of the high ferritin serum levels in Gaucher disease has not yet been elucidated and different mechanisms are possible. This review presents a current knowledge on biomarkers useful for diagnostic and monitoring of Gaucher disease with a focus on ferritinemia.
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| 3. |
- Markuszewska-Kuczymska, Alicja, et al.
(author)
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Długotrwała pancytopenia po chemioterapii jako objaw demaskuja̧cy chorobȩ Gauchera u pacjentki z rakiem płuca : [Long-lasting pancytopenia after chemotherapy as a disclosing symptom of Gaucher disease in a patient with lung cancer]
- 2014
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In: Acta Haematologica Polonica. - : Elsevier. - 0001-5814. ; 45:3, s. 294-300
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Journal article (peer-reviewed)abstract
- The diagnosis of congenital metabolic disease can be very difficult and often extends in time. This applies particularly to metabolic diseases of milder phenotype, such as an adult form (type 1) of Gaucher disease caused by the inherited (autosomal recessive) deficiency of the lysosomal enzyme glucocerebrosidase. In this work, we present a case of 48-year-old Polish patient (living in Sweden) with lung cancer, who developed a prolonged pancytopenia complicated by sepsis after each cycle of chemotherapy. These symptoms led to initiation of hematological diagnostic work-up and the assumption that the complications are caused by Gaucher disease. Definitive diagnosis of Gaucher disease was confirmed by results of enzymatic analyses, which revealed reduced activity of glucocerebrosidase in peripheral blood lymphocytes to 0.44 μkat/kg protein (ref.: 2.1-3.8), increased activity of plasma chitotriosidase to 1241 nkat/L (ref.: <40), and elevated plasma concentrations of chemokine CCL18/PARC to 1228 μg/L (ref.: <100). Direct DNA sequencing of the GBA1 gene revealed the presence of heterozygous mutation c.604C>T (R163X) and c.1226A>G (N370S), confirming diagnosis of type 1 Gaucher disease in the patient. The presence of the mutation c.604C>T has never been previously reported in a Polish patient with Gaucher disease. Administration of enzyme replacement therapy with imiglucerase (Cerezyme™) led to a rapid improvement of peripheral blood counts and enabled further continuation of intensive chemotherapy for lung cancer. In conclusion, the authors would like to emphasize that knowledge of the symptoms and the principles of diagnosis of Gaucher disease among hematologists is very important for efficient diagnostics of patients affected by this rare disease.
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