Dermatopathology
Maral Mokhtari; Farzaneh Mostanbet; Saideh Nekooee Fard; Golsa Shekarkhar; Mozhdeh Sepaskhah; Maryam Sadat Sadati
Abstract
Background & Objective: Thiopurine drugs are considered as a treatment modality in various autoimmune disorders including pemphigus vulgaris (PV). These drugs are metabolized by an enzyme “Thiopurine S-methyl transferase” (TPMT). Various variants of this enzyme may have decreased ...
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Background & Objective: Thiopurine drugs are considered as a treatment modality in various autoimmune disorders including pemphigus vulgaris (PV). These drugs are metabolized by an enzyme “Thiopurine S-methyl transferase” (TPMT). Various variants of this enzyme may have decreased activity leading to serious drug side effects. To investigate the phenotype and genotype of TPMT in PV patients receiving thiopurine drugs. Methods: 50 patients (29 women and 21 men) with pemphigus vulgaris treating with standard dose of Thiopurine drugs were selected. Sex, age, result of liver function test and complete blood count were recorded. Genotyping of two common non-functional allele (TPMT*2 and TPMT*3C) by Allele-specific and RFLP-PCR was performed. TPMT enzymatic level was determined by an ELISA based method. Results: Of patients, 36 (72%) were found to have normal TPMT level; and 12, (24%) had higher level of enzyme and 2, 4% had low TPMT enzyme, but none of the patients showed mutant TPMT*2 and TPMT*3C alleles. None of the patients showed hepatotoxicity and bone marrow suppression. Conclusion: The phenotypic assay based on ELISA method may have false positive and misleading results but genotyping using PCR-RFLP and allele specific PCR is accurate, simple and cost-effective and can be used in patients decided to undergo thiopurine treatment.
Breast Pathology
Akbar Safaei; Ahmad Monabati; Maral Mokhtari; Mehdi Montazer
Abstract
The most widely used guideline for the breast cancer biomarker assessment and reporting (the 2013 ASCO/CAP guideline) does not state the unusual occurrence of cytoplasmic Her2/neu staining (1, 2).
We recently encountered a T2N1Mx ductal adeno-carcinoma which consisted of two dissimilar tumor cell populations. ...
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The most widely used guideline for the breast cancer biomarker assessment and reporting (the 2013 ASCO/CAP guideline) does not state the unusual occurrence of cytoplasmic Her2/neu staining (1, 2).
We recently encountered a T2N1Mx ductal adeno-carcinoma which consisted of two dissimilar tumor cell populations. The more prominent population (75% of tumor cells) was made up of sheets of neuroendocrine-like cells (NEL) and the other tumor cell population had a usual adenocarcinomatous histomorphology (UAC) (Fig. 1A). The NEL was ER+ (clone 073), PgR-(clone 636), 40% ki67 with distinct dot-like cytoplasmic Her2 staining (clone CB11) which is considered as negative regarding the current guidelines. The UAC was ER+, PgR+, 20% ki67, and Her2 negative (Fig. 1A-C). Moreover, NEL did not react with either chromogranin or synaptophysin, but it expressed neuron-specific enolase (NSE). Dual color Her2/neu chromogenic in situ hybridization probes (chromogenic ISH) established that both components were not amplified for this oncoprotein gene (Fig. 1D).
Molecular Pathology
Freidoon Solhjoo; Akbar Safaie; Ahmad Monabati; Maral Mokhtari; Moeinadin Safavi
Volume 13, Issue 4 , October 2018, , Pages 438-446
Abstract
Background and Objective: Identification of cytogenetic and molecular changes plays an important role in acute myeloid leukemia (AML) patients. Thus, they are used in classification, prognosis and treatment of the disease. The CD123 expression and FLT3 gene mutations are also the variations that may ...
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Background and Objective: Identification of cytogenetic and molecular changes plays an important role in acute myeloid leukemia (AML) patients. Thus, they are used in classification, prognosis and treatment of the disease. The CD123 expression and FLT3 gene mutations are also the variations that may assist in prognosis and treatment of patients with AML.Methods: This study was performed on 76 patients as new cases of AML. The correlation between CD123 immunohistochemical (IHC) expression and FLT3 gene mutations with each other as well as morphological, immunophenotypical and cytogenetic factors was studied.Results: The results represented the CD123 IHC expression in 55.3% and FLT3 gene mutations in 28.9% of cases. We found that 81.3% of patients who had FLT3/ITD gene mutations revealed IHC of CD123 expression (P=0.019). The CD123 expression against FLT3 was also correlated with monocytic differentiation in bone marrow blasts (P=0.031). There were significant correlations between IHC expression of CD123 and FLT3/ITD mutations with a high percentage of aspirated bone marrow blasts (P=0.01 and P=0.006, respectively) as well as the lack of CD34 expression in bone marrow blasts (P=0.007 and P=0.021, respectively).Conclusion: The CD123 IHC positive AMLs were correlated with certain pathologic features, some of which can be similar with correlations of background mutation of FLT3/ITD; According to the negative predictive value (NPV), 88.2% of CD123 IHC showed FLT3 gene mutation. In addition to its use in targeted therapy, it could be a marker to decide what molecular tests to use in the next steps.
