Molecular Pathology
Amirhossein Jafarian; Masoumeh Jafaripour; Masoumeh Gharib; Maryam Salehi; Nema Mohamadian Roshan; Sare Etemad; Khatoone Mirshekar; Maryam Sheikhi; Masoumeh Heidari; Behnaz Ahmadian; Zahra Khoshnegah; Hossein Ayatollahi; Payam Siyadat
Abstract
Background & Objective: Epithelial ovarian cancer (EOC) is the most prevalent type of ovarian cancer. Previous studies have elucidated different pathways for the progress of this malignancy. The mutation in the B-Raf proto-oncogene, serine/threonine kinase (BRAF) gene, a member of the MAPK/ERK signaling ...
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Background & Objective: Epithelial ovarian cancer (EOC) is the most prevalent type of ovarian cancer. Previous studies have elucidated different pathways for the progress of this malignancy. The mutation in the B-Raf proto-oncogene, serine/threonine kinase (BRAF) gene, a member of the MAPK/ERK signaling pathway, plays a role in EOC. The current study aimed to determine the frequency of the BRAF V600E mutation in ovarian serous and mucinous tumors, including borderline and carcinoma subtypes.Methods: A total of 57 formalin-fixed paraffin-embedded samples, including serous borderline tumors (SBTs), low-grade serous carcinomas (LGSCs), high-grade serous carcinomas (HGSCs), mucinous borderline tumors (MBTs), and mucinous carcinomas, and 57 normal ovarian tissues were collected. The BRAF V600E mutation was analyzed using polymerase chain reaction (PCR) and sequencing.Results: While 40% of the SBT harbor BRAF mutation, we found no BRAF mutation in the invasive serous carcinoma (P=0.017). Also, there was only 1 BRAF mutation in MBT and no mutation in mucinous carcinomas. In addition, we found no mutation in the control group.Conclusion: The BRAF mutation is most frequent in borderline tumors but not in invasive serous carcinomas. It seems that 2 different pathways exist for the development of ovarian epithelial neoplasms: one for borderline tumors and the other for high-grade invasive carcinomas. Our study supports this hypothesis. The BRAF mutation is rare in mucinous neoplasms.
Hematopathology
ehsan yazdandoust; mohammad hadidi sadeghian; seyyede fatemeh shams; Yasaman Saadatpour; payam siyadat; maryam sheikhi; Monavar Afzal Aghaee; Hossein Ayatollahi
Abstract
Background & Objective: Acute myeloid leukemia (AML) is a hematopoietic malignancy caused by genetic abnormalities. These days, molecular and genetic factors are usually used as diagnostic and prognostic markers. FLT-3 is one of the most known diagnostic factors in AML. MDR1 gene belongs to the ATP ...
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Background & Objective: Acute myeloid leukemia (AML) is a hematopoietic malignancy caused by genetic abnormalities. These days, molecular and genetic factors are usually used as diagnostic and prognostic markers. FLT-3 is one of the most known diagnostic factors in AML. MDR1 gene belongs to the ATP binding cassette family; it is known as one of the chemotherapy-resistant causes of AML. We aimed to study FLT-3ITD mutations and their association with MDR1 gene expression in AML individuals.Methods: For investigation, 80 AML individuals and 20 healthy controls were selected. This study was done in the cancer molecular pathology research center of Mashhad University of Medical Sciences (MUMS), Iran during 2017-2019. FLT3-ITD mutation was assessed by polymerase chain reaction (PCR); Real-time quantitative PCR was performed to measure the amount of MDR1 gene expression. Bone marrow and blood smears of patients were evaluated in terms of morphology. SPSS 16.0 was used for data analysis.Results: FLT3-ITD mutation and MDR1 overexpression were found in 18.8% and 23.8% of AML patients, respectively. Statistical analysis did not show any relations or association between these two markers. Cuplike morphology was observed in blast cells in 21.25% of AML cases, which was associated with FLT3-ITD mutation presence.Conclusion: FLT-3 and MDR1 do not affect each other. It is suggested to perform survival studies to determine the exact role of MDR1 overexpression in drug resistance issues.
Hematopathology
Hossein Ayatollahi; Ali Bazi; Mohammad Hadi Sadeghian; Ali Fani; Payam Siyadat; Maryam Sheikhi; Omolbanin Sargazi-aval
Abstract
Background & Objective: Acute promyelocytic leukemia (APL) with t(15;17)(q22;q12) is a relatively common subtype of acute myeloid leukemia (AML). Here, our objective was to ascertain the survival of patients with this leukemia in north-east of Iran. Methods: Survival rates of ...
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Background & Objective: Acute promyelocytic leukemia (APL) with t(15;17)(q22;q12) is a relatively common subtype of acute myeloid leukemia (AML). Here, our objective was to ascertain the survival of patients with this leukemia in north-east of Iran. Methods: Survival rates of 42 APL patients with t(15;17)(q22;q12) were assessed. Clinical information was obtained from archived medical records. Statistical analysis was performed by SPSS 18 software using log-ranked test and Kaplan Maier survival analysis. Results: Females and males comprised 49% and 51%, respectively. The mean age at diagnosis was 34.3 ± 14.1 years old. During the study period, 17 demises occurred in males, while this number was 7 in females. The mean survival of patients (month) was 23.22 ± 3.57 (95% CI: 16.21 ± 30.2). The five-year survival rate obtained 30%. Regarding demographic and clinical features, the highest rates of 5-year survival were recorded in patients with 20-35 years old (47.6%), males (51%), white blood cell count <10±/l (48%), and platelet count >140 ± /l (100%). Conclusion: Younger age, lower WBC count and higher platelet count were significantly associated with longer survival in AML patients with t(15;17)(q22; q12).
Hematopathology
Seyyede Fatemeh Shams; Hossein Ayatollahi; Mohammad hadi Sadeghian; Monavar Afzal Aghaee; Sepideh Shakeri; Ehsan Yazdandoust; Maryam Sheikhi; Nafiseh Amini; Samane Bakhshi; Afsane Bahrami
Volume 13, Issue 4 , October 2018, , Pages 397-402
Abstract
Background and Objective: Janus kinase 2 (JAK2) and Myeloproliferative Leukemia (MPL) mutations are confirmatory indicators for Myeloproliferative Neoplasm (MPN). The current study was performed to determine the frequency of MPL mutation in MPN patients without JAK2 mutation, in order to assign MPL mutation ...
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Background and Objective: Janus kinase 2 (JAK2) and Myeloproliferative Leukemia (MPL) mutations are confirmatory indicators for Myeloproliferative Neoplasm (MPN). The current study was performed to determine the frequency of MPL mutation in MPN patients without JAK2 mutation, in order to assign MPL mutation frequency in North-East of Iran.Methods: Total of 105 negative JAK2 cases including 5 Myeloproliferative Disorders (MPD), 15 Polycytemia Vera (PV) and 15 Essential Thrombocytosis (ET) who referred to Qaem Medical Center were assigned to this study. ARMS-PCR was carried out for measuring MPL mutations. Results: A significant difference was observed between MPL mutant and non-mutant groups from overview of MPL mutation (P=0.00001). From the total studied population, 14.28% were ET cases and 4.71% of them had splenomegaly. About 66.66% had thrombocytosis and 33.33% of all the individuals had leukocytosis according to WHO criteria, and 4.76% of non-MPL mutant individuals had splenomegaly (P=1). This mutation was reported in 4-6% of ET and PMF individuals. In this research, 4.76 % of studied individuals had MPL (W515L/K) mutation, which were diagnosed with ET.Conclusion: Generally, the presence of JAK2 and MPL mutations are the most important criteria for MPN diagnosis. The obtained frequency of MPL mutation was similar to previous studies. Despite the high frequency of JAK2 and Philadelphia abnormality, MPL mutation was rare in myeloprolifrative disorders. Further studies are suggested to investigate its prognostic effects for these diseases.
Diagnostic Pathology
Amir Hossein Jafarian; Khatoone Mirshekar; Sare Etemad; Masoumeh Jafaripour; Mansoore Darijani; Maryam Sheikhi; Hossein Ayatollahi; Sepideh Shakeri; Seyyede Fatemeh Shams; Saeed Davari
Volume 13, Issue 4 , October 2018, , Pages 415-421
Abstract
Background and Objective: BRAF mutations were studied in various populations for prostate carcinoma (PC); however, mutations in BRAF gene are unusual compared to KRAS. Oncogenic activating of BRAF mutations were studied lately in almost 0%-10% of prostate cancer cases. Methods: In this retrospective ...
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Background and Objective: BRAF mutations were studied in various populations for prostate carcinoma (PC); however, mutations in BRAF gene are unusual compared to KRAS. Oncogenic activating of BRAF mutations were studied lately in almost 0%-10% of prostate cancer cases. Methods: In this retrospective study, we gathered 100 formalin-fixed paraffin-embedded samples of prostate adenocarcinoma. A hundred archived samples of adjacent benign prostatic hyperplasia were chosen as normal control. This study was done in pathology laboratory of Qaem Hospital during 2013-2015.Results: Total number of 200 PC and normal cases was investigated for BRAF V600E mutation. The BRAF V600E mutation was found in only 4 patients but it was not detected in normal cases. There were no significant differences between patient and control groups for this mutation (P>0.99). The frequency of BRAF V600E mutation was not significant in different age groups (P>0.285); the most frequency was related to the age range of 71-80. No significant difference was observed between tumor grade and BRAF mutation (P=0.21).Conclusion: According to our findings, BRAF gene mutations did not play essential role in PC. Therefore, anti-BRAF (V600E) could not be considered as a proper target for therapy.
Biology & Genetic
Hossein Ayatollahi; Alireza Tavassoli; Amir Hossein Jafarian; Amin Alavi; Sepideh Shakeri; Seyyede Fatemeh Shams; Maryam Sheikhi; Neda Motamedi Rad; Mohammadhadi Sadeghian; Afsane Bahrami
Abstract
Background & objective: KRAS mutations are reported in many types of cancers including pancreas, lung, colon, breast, and gastric (GC). High frequency of KRAS mutation is observed in the pancreas, colon, and lung cancers; they commonly arise in codon 12 and 13 of exon 2. Due to the lack of information ...
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Background & objective: KRAS mutations are reported in many types of cancers including pancreas, lung, colon, breast, and gastric (GC). High frequency of KRAS mutation is observed in the pancreas, colon, and lung cancers; they commonly arise in codon 12 and 13 of exon 2. Due to the lack of information about the frequency of KRAS mutations in the Northeast of Iran, the current study aimed at evaluating KRAS frequency in cases with GC in this region. Methods: A total of120 formalin-fixed, paraffin-embedded blocks of patients with GC were assessed. The assays to detect KRAS in codon 12 and 13 were obtained through the peptide nucleic acid (PNA)-clamp. Results: Totally 87 male and 33 female patients were analyzed in the current study. The mean age of the subjects was 55 years. The most common tumoral fragment was located on the body with 48 cases (40%) and the less frequent was related to fondues with six cases (5%). Of the 120 GC samples, 16 (13.3%) cases had codon 12 KRAS mutation, and 16.7% had codon 13 mutations. There were no significant relationships between gender, age, and KRAS mutations in the studied specimens. Conclusion: In conclusion, the overall frequency of KRAS codon 12 and 13 mutations in GC was 30% in the current study population. Frequency of KRAS codon 12 and 13 mutations had significant correlation with tumors location. Different pathogenic mechanisms are suggested for GC according to tumor location. The current study results may be an important diagnostic tool for physicians managing atrophic gastritis.
Biology & Genetic
Meysam Rezaeishahmirzadi; Neda Motamedi Rad; Mehdi Kalantar; Hossein Ayatollahi; Sepideh shakeri; Maryam Sheikhi; Mohammad Shekari
Abstract
Background and Objective: The current study aimed at assessing the relationship between gastritis and peptic ulcer susceptibility and inflammation-related gene polymorphisms in Iranian patients. Gastritis and peptic ulcer are common medical complications with serious outcomes on the quality of life. ...
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Background and Objective: The current study aimed at assessing the relationship between gastritis and peptic ulcer susceptibility and inflammation-related gene polymorphisms in Iranian patients. Gastritis and peptic ulcer are common medical complications with serious outcomes on the quality of life. Inflammatory responses of gastric mucosa are associated with helicobacter pylori, but most infected patients remain asymptomatic. There is strong evidence that inflammatory response is a major part of its etiology. Methods: The current case-control study aimed at examining genetic polymorphisms in inflammatory cytokines interleukin (IL)-4, and IL-10 using polymerase chain reaction-variable number tandem reaped (PCR-VNTR) and PCR-restriction fragment length polymorphism (RFLP) methods, respectively in 603 genotyped patients admitted to Mohammadi Hospital in Bandar Abbas, Iran (198 patients with gastritis, 84 with peptic ulcer, and 321 patients as controls). Results: No significant associations were detected in genotype and allele frequencies of IL-10 and IL-4 between the case (with gastritis and peptic ulcer) and control groups. Conclusion: In conclusion, the results of the analyses suggested that these polymorphisms may not predispose the carriers to gastritis and peptic ulcer development.
