The Impact of JAK2 V617F, CALR, and MPL Mutations as Molecular Diagnostic Markers of Myeloproliferative Neoplasms in Kurdish Patients. A Single-center Experience.

Myeloproliferative neoplasms have a high prevalence and genetic mutations play a role in their occurrence. Determination of these mutations can be valuable in the screening, diagnosis, and treatment of patients. Therefore, this study was conducted to investigate the mutation of JAK2, CALR, and MPL genes as diagnostic and prognostic biomarkers in patients with myeloproliferative neoplasms in the Kurdistan region of Iraq. This case-control study was conducted in 2021 on 223 patients with myeloproliferative neoplasm referred to Hiwa Sulaymaniyah Cancer Hospital. The data were collected from three groups of Polycythemia Vera (PV) patients (70 people), Essential Thrombocythemia (ET) (50 people), and Primary Myelofibrosis (PMF) (103 people) by sampling for JAK2, CALR, and MPL gene mutation tests and demographic and clinical information have been collected through examination. The data were analyzed by SPSS v. 23 software and descriptive and chi-square statistical tests. The study included 223myeloproliferative neoplasms (MPN) patients. JAK2 V617F mutation was detected mostly in PV patients and CALR and MPL mutations in ET and PMF patients and this mutation difference was significant in prognosis and disease diagnosis. An association between JAK 2 mutation and splenomegaly was also demonstrated. Considering the lack of a definitive diagnostic method in myeloproliferative disease, the results of this study showed that molecular studies, including JAK2 V617F, CALR, and MPL mutations and other hematological tests can be useful and effective in the diagnosis of MPN. In addition, it is necessary to pay attention to new diagnostic methods.

The Outcome of Acute Lymphoblastic Leukemia in 109 Adult Iraqi Patients.

While many studies addressed the outcome of adult ALL in developed Western countries, there is paucity of such prospective studies from developing Mediterranean ones. This is a prospective cohort study conducted at Hiwa Cancer Hospital in Sulaimani city and Nanakali Hospital in Erbil city-Kurdistan Iraq from March 2012 to August 2017. The main characteristics of adult ALL patients, type of therapy and risk factors were analyzed to assess their impact on treatment outcome and survival status. A total of 109 adult ALL patients were included with a median age of 24 years and male to female ratio of 1.7:1. B-ALL accounted for 76.1% of the cases, while the rest were T-ALL. BCR-ABL rearrangement was encountered in 12% of B-ALL. Complete remission (CR) rate was 81.7%, the overall 5 year survival (OS) was 38%, Relapse Free 5 year Survival (RFS) was 49%. Younger adults (< 35 years) had significantly higher CR rates and OS compared to the older group (P < 0.001 each). On the other hand, gender, high leucocyte count ≥ 50×109/L, immunophenotype (including B and T ALL subtypes), and clinical risk status did not predict a poor outcome. Multivariate analysis revealed that only age < 35 years and BCR-ABL rearrangement were significantly associated with better OS. Despite some limitations, the outcomes of Iraqi adult ALL is comparable to those reported in Western developed countries, with particularly favorable outcomes in younger patients. The need to improve outcome in adult ALL remains an important priority in our country as it is throughout the world.

The contribution of CD200 to the diagnostic accuracy of Matutes score in the diagnosis of chronic lymphocytic leukemia in limited resources laboratories.

Flow cytometry immunophenotyping has an essential role in distinguishing chronic lymphocytic leukemia from other B-chronic lymphoproliferative disorders. Recently, CD200 is considered as a relatively consistent marker in chronic lymphocytic leukemia. We retrospectively assessed CD200 expression in 252 patients with B chronic lymphoproliferative disorders with four-color flow cytometry. CD200 expression estimation included the proportion of positive cells (≥30%) and the mean fluorescence intensity ratio. Additionally, we have incorporated CD200 into Matutes score, also replaced FMC7 and CD79b in an attempt to improve the score discriminative power. Of 252 patients enrolled, 199(79%) patients were classified as chronic lymphocytic leukemia and 53 (21%) as other B-chronic lymphoproliferative disorders. All chronic lymphocytic leukemia cases and 20 of 53 (37.7%) of other B-chronic lymphoproliferative disorders demonstrated high CD200 expression (≥30%). Further, CD200 (≥30%) revealed a higher accuracy in comparison to other markers in Matutes score (range: 51%-92.5%). Also, CD200 addition to the Matutes score has correctly recognized all 199 chronic lymphocytic leukemia cases including 10 atypical chronic lymphocytic leukemia cases. As for non-CLL cases, 20 of 53 attained a higher score, yet keeping the original diagnosis. Moreover, CD200 enhanced the diagnostic accuracy of Matutes score to 100%, and when included in a simplified 4-markers score, showed an accuracy of 99.8% compared to 99.4% of Matutes score. In conclusion, CD200 is an accurate diagnostic marker for chronic lymphocytic leukemia, and can refine the modified Matutes score accuracy when added with other markers.

Corrigendum to "Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq".

[This corrects the article DOI: 10.1155/2020/2807120.].

ABO Blood Groups and Thrombophilia Markers in Patients With Unstimulated Thrombosis in Kurdistan Region of Iraq.

Thromboembolism (TE) is a complex disease caused by various acquired and inherited factors. The common mutations; factor V Leiden G1691A (FVL G1691A), prothrombin G20210A (PTG20210A), and methylene tetrahydrofolate reductase C677T (MTHFR C677T) are important inherited causes in both venous and arterial thrombosis. The association between ABO blood groups and thrombophilia has been noted by researchers. We aimed to determine the frequency and association of ABO blood groups as a risk factor along with 3 thrombophilia mutations and another 3 thrombophilia markers in a group of patients with unstimulated thrombosis. In a prospective case-control study, we focused on 100 samples, 50 patients with documented thrombosis as well as 50 healthy age-matched controls. Multiplex polymerase chain reaction and reverse hybridization to oligonucleotide particular probes were employed to detect FVL G1691A, PT G20210A, and MTHFR C677T mutations. Analysis of other thrombophilia markers including protein C (PC), protein S (PS), and antithrombin (AT) assays was also performed. ABO blood group typing was done according to standard methods. Non-O blood group was significantly more frequent among cases than controls (76% vs 54%) with high odds of TE (odds ratio [OR] = 2.69). Positivity for at least 1 thrombophilia marker was more in cases (60%) than controls (34%; OR = 2.9). The combined effect of non-O blood group and thrombophilia markers raised the risk of TE (OR = 4.16, P = .001), particularly FVL (OR = 6.76). This study illustrates that harboring the non-O blood group poses an additive effect with other thrombophilia markers in the causation of TE.

Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq.

OBJECTIVE: To determine the molecular characterization and disease-associated complications of beta-thalassemia intermedia (ß-TI) patients in Sulaymaniyah province, northeastern Iraq. METHODS: A total of 159 ß-TI) patients in Sulaymaniyah province, northeastern Iraq. ß-TI) patients in Sulaymaniyah province, northeastern Iraq. RESULTS: Nineteen different ß-globin gene mutations arranged in 37 various genotypes were determined. The most frequent were IVS-II-I (G>A) (47.2%), followed by IVS-I-6 (T>C) (23.3%) and IVS-I-110 (G>A) (5%). Among disease-related morbidities documented, bone disease amounted to 53% (facial deformity and osteoporosis), followed by endocrinopathies 17.6% (growth retardation and subclinical hypothyroidism), cholelithiasis 13.8%, pulmonary hypertension 11.3%, and abnormal liver function test 7.5%, whereas venous thrombosis, extramedullary hemopoiesis, and leg ulcer were less frequently observed. Age ≥ 35 and female sex were risk factors for cholelithiasis, while age was an independent risk for hypothyroidism and female sex was associated with increased risk for osteoporosis. Mean serum ferritin of ≥1000 µg/L was associated with an increased risk of osteoporosis, whereas chelation therapy was protective for a multitude of other complications. Transfusion, on the other hand, increased the risk of osteoporosis, yet it was protective for cholelithiasis and hypothyroidism. Moreover, splenectomy was protective for cholelithiasis, although it was an independent risk for hypothyroidism. Finally, hydroxyurea was associated with an increased risk of osteoporosis, while it was protective for cholelithiasis. Discussion and Conclusion. ß +-thalassemia mutation had contributed to 41.25 of families with a less severe ß-thalassemia phenotype in the northeastern part of Iraq, justifying the need to investigate the contribution of genetic modifiers in ameliorating disease severity. In addition, the substantial number of ß-TI patients developed disease-related morbidities, which necessitates the need for more appropriate clinical management with earlier intervention.ß-TI) patients in Sulaymaniyah province, northeastern Iraq. µg/L was associated with an increased risk of osteoporosis, whereas chelation therapy was protective for a multitude of other complications. Transfusion, on the other hand, increased the risk of osteoporosis, yet it was protective for cholelithiasis and hypothyroidism. Moreover, splenectomy was protective for cholelithiasis, although it was an independent risk for hypothyroidism. Finally, hydroxyurea was associated with an increased risk of osteoporosis, while it was protective for cholelithiasis. Discussion and Conclusion. ß +-thalassemia mutation had contributed to 41.25 of families with a less severe ß-thalassemia phenotype in the northeastern part of Iraq, justifying the need to investigate the contribution of genetic modifiers in ameliorating disease severity. In addition, the substantial number of ß-TI patients developed disease-related morbidities, which necessitates the need for more appropriate clinical management with earlier intervention.Discussion and Conclusion. ß +-thalassemia mutation had contributed to 41.25 of families with a less severe ß-thalassemia phenotype in the northeastern part of Iraq, justifying the need to investigate the contribution of genetic modifiers in ameliorating disease severity. In addition, the substantial number of ß-TI patients developed disease-related morbidities, which necessitates the need for more appropriate clinical management with earlier intervention.ß-TI) patients in Sulaymaniyah province, northeastern Iraq. ß-TI) patients in Sulaymaniyah province, northeastern Iraq.