Iranian Journal of Blood and Cancer
Volume:11 Issue: 3, Sep 2019

Cancer is a critical health threat in the world. It has an ongoing increasing trend.The aim of this study was to describe the trend, most common types of cancer and the gender ratio of cancer in Iran and its provinces. We searched PubMed, Google Scholar, Scopus, and Science directs from 2000 to 2017 using Keywords including “Cancer”, “Neoplasms”, “Malignancy”, “Tumor”, “Incidence”, “Epidemiology”, and “Iran”.The most common cancers of Iranian men were skin, stomach, bladder, prostate and colorectal cancers, respectively. The most common cancers of Iranian women were breast, skin, colorectal, stomach, and esophagus cancers, respectively. Cancer has an increasing trend in Iran. Cancer has more burden in the Northern and Northwest provinces of Iran. There was a notable diversity between the occurrences of different types of cancer between different provinces of Iran. Men were more predisposed to cancer. Iran experienced an increasing trend of cancer, like other countries. Different provinces of Iran experienced different patterns. The quality of cancer registry was different, also in many provinces, there were no strong epidemiological studies about cancer. The prevalence of some risk factors was differed in provinces.

Cytochrome P450 2C19 (CYP2C19) is widely involved in the metabolism of some medications. On the other hand, recent studies have shown the contribution of the CYP2C19 polymorphisms to different malignancies. We aimed to investigate the association between CYP2C19 polymorphism and occurrence of hematological malignancies by comparing the phenotype distribution of this enzyme in patients and healthy subjects.

150 Iranian patients with hematological malignancies from different ethnicities were recruited. Mutant alleles of the CYP2C19*2 and *3 were examined using PCR-RFLP technique and CYP2C19*17 was genotyped using DNA sequencing analysis.

CYP2C19*17 was the most common allelic variation (24%, 95% CI: 19.17-28.83%) among patients with hematological malignancies, whereas the variant CYP2C19*3 was not detected among our patients. Furthermore, the CYP2C19*1*1 and CYP2C19*1*17 genotypes which respectively represented the “extensive metabolizer” (EM) and Ultra-rapid metabolizer (URM) phenotypes, had the highest incidence.

The results of this study suggested that there may be no association between CYP2C19 polymorphisms and occurrence of hematological malignancies. However, larger well-designed studies are necessary to confirm these results in Iranian populations.

Factor V Leiden, Prothrombin gene (G20210A) and MTHFR (C677T) polymorphism are the main biomarkers for evaluation of tendency for venous thromboembolism. We aimed to investigate the frequency of mutations in factor V Leiden, Prothrombin G20210A and MTHFR C677T and identify the genetic status for these mutations in patients with venous thrombosis.

This study was carried out in 312 patients with venous thrombosis who were referred to “Thrombosis Clinical center”, Imam Khomeini Hospital, Tehran, Iran and “Sarvar Clinic”, Mashhad, Iran. Identification of gene mutations was performed using PCR-restriction fragment length polymorphism (RFLP)-based method.

The prevalence of Factor V Leiden mutation was 35.8%, while 8.9% of them were homozygous for AA allele and 26.9% had the GA allele in heterozygous state. The prevalence of MTHFR (C677T) mutation was 17.9% of which 7.1% had the TT mutant allele in homozygous and 10.8% had CT allele in heterozygous state. The prevalence of mutation in prothrombin gene G20210A was 8.9% with all cases heterozygous for GA mutant allele.

In our study from two referral centers for thrombotic disorders, the prevalence of mutations in gene encoding factor V Leiden was higher than Prothrombin 20210A and MTHFR C677T polymorphisms. Therefore, assay for factor V Leiden mutation has the first priority in the evaluation of patients with hereditary thrombophilia in these geographical regions.

The pharmacogenetic-oriented approach reduces the toxicity and increases the safety of chemotherapeutic agents. 6-mercaptopurin (6-MP) metabolizing enzymes such as thiopurine S-methyltransferase (TPMT) and inosine triphosphate pyrophosphatase (ITPA) contribute to variable responses and adverse effects among leukemia patients treated with 6-MP. The aim of our study was to identify the prevalence of TPMT and ITPA gene polymorphisms among Bangladeshi children with acute lymphoblastic leukemia (ALL) and their association with the adverse effects of 6-MP during the treatment.

We recruited 75 patients with ALL and 75 volunteers with minor illnesses as the control group. Genotyping for TPMT (TPMT*3C, *3B, *2) and ITPA (ITPAc.94C>.A) was performed. The relationship between genotypes and adverse effects of 6-MP was investigated.

The frequency of TPMT*3B, TPMT*3C and ITPA polymorphisms among volunteers was 0.006, 0.020, and 0.093, respectively, whereas TPMT*3C and ITPA polymorphisms among ALL patients was 0.010 and 0.153, respectively. ALL patients with the ITPA variant developed fever (OR=6.9, 95% CI=1.99-23.91), neutropenia (OR=7.68, 95% CI=2.21-26.61), hyperbilirubinemia (OR=4.73, 95% CI=1.39-16.07) and raised serum ALT (OR=4.73, 95% CI=1.52-14.68) which were significant in comparison with those without polymorphism.

The frequency of ITPAc.94C>A among Bangladeshi children was high. Adverse effects of chemotherapy in patients with ALL suggests the importance of ITPA genotyping in ALL patients prior to starting chemotherapy.

Immunophenotyping in the rare group of nodal Peripheral T-cell Lymphomas (PTCL) exposes interesting features such as T-cell marker downregulation and paradoxically, the presence of reactive, clustered large-sized CD20 positive B-cells (B-cell proliferation). Epstein-Barr virus (EBV) has been suggested as a putative etiology in pathogenesis of B-cell lymphoma. We aimed to review the immunohistochemical profile of patients with nodal PTCL with emphasis on T-cell markers and immunophenotypic aberrations, CD20 positive large B-cells, Ki-67 scores (as a measure of proliferation index) and to assess the association of Epstein-Barr virus in various subtypes of nodal PTCL.

80 cases of nodal PTCL diagnosed during January 2008-June 2013 were included in the study. Relevant clinical and hematological data were collected. Using Streptavidin-Biotin-Peroxidase system, staining for CD2, CD3, CD4, CD5, CD7, CD8, CD20,EBV-LMP1 and Ki-67 were performed on all blocks.CD10,CD23,Bcl-6, CD30 and ALK-1 were used in relevant cases.

95% of patients had downregulation of at least one T-cell marker (maximum: CD7 (87%), minimum: CD3 and CD5- 9% each). 29 patients (36%) showed markers of B-cell proliferation. Only five patients (6%) were positive for EBV-LMP1. There was a significant association between EBV-LMP1 positivity and B-cell proliferation (P=0.002). 17 patients (21%) had high Ki-67 index (≥80%).

Nodal PTCL showed frequent downregulation of T-cell markers. EBV was only infrequently positive in these Lymphomas. Clusters of large B-cells need to be noted in pathology reports and EBV needs to be tested for in such cases.

Chordoma is a malignant, slow growing and locally aggressive tumor. It arises from remnants of the notochord and accounts for 1–4% of all primary bone tumors. They usually arise from anywhere along the spine, from base of the skull to the sacrococcygeal area and usually do not metastasize. Chordomas are slow-growing tumors which are not responsive to conventional chemotherapy or radiation. They are usually diagnosed late in the course of the disease, as they are low-grade tumors that show a slow progression. Complete surgical excision is the only therapeutic modality to offer a cure. We present a 48-year-old man with progressive paraparesis and disseminated cutaneous and lung metastases diagnosed as metastatic chordoma of the sacrum.