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    • In primary diagnosis IKZF status

    2019-04-22

    In primary diagnosis IKZF1 status was not taken into account for risk group stratification. According to protocol ALL-MB-2002 regulations, risk was underestimated and patient was assigned to the SRG. Prognostic value of IKZF1 alterations in ALL, especially BCR-ABL1 negative ALL, is still debated [19]. This case demonstrated the importance of screening of IKZF1 deletions for ALL prognosis.
    Conclusion From the diagnostic point of view, the analysis of IKZF1 gene deletions is complicated by different localization of chromosome breakpoints. Such methods as SNP-arrays [8,20], CGH-arrays [6,21] and MLPA [22–24] were mostly used for the analysis of this locus. However, the PCR detection is also applicable in most cases and can be supplemented by iFISH, RQ-PCR evaluation of short isoforms expression or protein localization by fluorescent microscopy.
    Case report In 2008 a 57-year old man was referred for treatment of polycythemia vera (PV). One year earlier he had been admitted with symptoms resembling an episode of transitory cerebral ischemia (TCI). The patient also had a history of multiple sclerosis (MS), vitamin B12 deficiency and tobacco smoking. The MS was not being treated at this point and the B12 deficiency was treated with cyanocobalamin 1mg/day. At that time the hemoglobin concentration (Hgb) was elevated at 18.5g/dL, the hematocrit (HCT) was 54%, and the white blood cell count (WBC) was 11.0×109/L. The platelet count was 502×109/L. Mean corpuscular volume (MCV) was normal 97fL. A cerebral CT-scan showed a hypodense area compatible with an infarction of indeterminable age. The patient was treated with acetylsalicylic order TAK-875 75mg/day, dipyridamole 200mg 2 times/day along with simvastatin 40mg/day. The patient was phlebotomized once before discharge. Unfortunately, although the elevated blood cells should have raised the suspicion of PV, the patient was not referred to a department of hematology, and no JAK2-V617F mutation analysis was done at this time. The patient was referred to the department of hematology in 2008 by his general practitioner because of sustained elevated Hgb-concentrations and platelet counts along with fatigue. At the time of the PV diagnosis the Hgb concentration was 19.2g/dL and the HCT 0.60. The WBC was 12.0×109/L, and the platelet count 485×109/L, the MCV 91fL and B12 vitamin was elevated at 882pmol/l. MCV remained normal and B12 normal or elevated. The red cell mass and plasma volume were both expanded, and serum-EPO was lowered at 1IU/L. The JAK2-V617F mutation was positive with an allele burden of 64%. A bone marrow biopsy was compatible with PV with a slightly hypercellular bone marrow with panmyelosis and depleted iron stores, displaying no reticulin fibrosis and a peripheral blood-smear was without leucoerythroblastosis. Immunohistochemical staining with CD34 showed dilated vessels, but no increase in vascular density. An abdominal ultrasound showed normal spleen size. Based on the above findings the diagnosis PV was made. During the following year 11 phlebotomies were performed and no cytoreductive treatment was administered. Fig. 1 illustrates the treatment and responses in hematological parameters along with the JAK2-V617F allele burden. Approximately 13 months after the PV-diagnosis, treatment with hydroxyurea (HU) 500mg/day was initiated in order to reduce the need of phlebotomies and to normalize elevated leukocyte and platelet counts. Eighteen days later the patient was admitted to a department of neurology with convulsions and fever, being suspected of an attack of MS. Clinically a pneumonia was suspected, and a chest x-ray revealed multiple pulmonary infiltrates. Accordingly, treatment with antibiotics was initiated. No bacterial growth from blood, urine or sputum was recorded. After 3 days of admission HU was discontinued. Later, the patient developed shock and was transferred to the intensive care unit. A CT-scan of the chest and abdomen revealed signs of pulmonary alveolitis. A bronchoscopy was normal. No biopsy was performed. It was concluded that the alveolitis likely was induced by HU, since the patient steadily improved after HU was discontinued.