Essentialy, the diagnostics feature of myeloproliferative neoplasms (MPNs) is a genetic mutations. While bcr-abl translocation belongs to CML, Jak2V617F mutation is commonly associated with other MPNs. The recent decade has been clarified a data when a human blood presents bcr-abl translocation and Jak2V617F mutation both. This clinical case reports of bcr-abl translocation and Jak2V617F mutation when they were detected simultaneously by polymerase chain reaction (PCR) in a patient with myeloproliferative neoplasm, unclassifiable (MPN-U).
Aim: to analyze the case of immunological detection and treatment of young male with resistant acute myeloid leukemia in Sverdlovsk Regional Hematological Centre. Bone marrow and peripheral blood samples obtained from male, aged 38, treated using intensive chemotherapy programs and then obtained supportive care and palliative chemotherapy in municipal hospital. Immunohistochemical characterization of AML blast cells: medium and small cells with one or several nucleoli, MPO, CD34, CD117, CD68 positive. In cytochemistry lipids were positive in 29.0% of blasts, glycogen – 81.0%. Immunophenotype of blast cells was CD45, CD13, CD33, CD34, CD38, CD117, MPO-cyt (+). Karyotype was 47, XY, +13 and changed during AML clonal progression. In case, two non-synonymous substitution were co-existed in samples: NRAS gene с. 182 A>C and TP53 gene с. 215 С>G. The number of NRAS gene point mutations changed during AML clonal progression (additional c. 35 G>С substitution was found). Immunophenotype of blast cells not changed during progression. Overall time of patient observation was 42 week.
We are studied the 15 patients with autoimmune liver diseases and 36 patients without autoimmune pathology found the diagnostic value of antinuclear and antimitochondrial autoantibodies (AMA-M2) tests, and antibodies to asialoglycoprotein receptor (anti-ASGPR). Based on the ROC analysis showed that the diagnostic sensitivity and diagnostic specificity of AMA-M2 was 73% and 100% and for anti-ASGPR – 60% and 77%, respectively. Therefore, the test for anti-ASGPR in autoimmune diseases of the liver showed no advantages over standart tests, and its using in clinical practice requires clarification.
We are studied the 15 patients with autoimmune liver diseases and 36 patients without autoimmune pathology found the diagnostic value of antinuclear and antimitochondrial autoantibodies (AMA-M2) tests, and antibodies to asialoglycoprotein receptor (anti-ASGPR). Based on the ROC analysis showed that the diagnostic sensitivity and diagnostic specificity of AMA-M2 was 73% and 100% and for anti-ASGPR – 60% and 77%, respectively. Therefore, the test for anti-ASGPR in autoimmune diseases of the liver showed no advantages over standart tests, and its using in clinical practice requires clarification.
