[Molecular diagnosis of B cell Non-Hodgkin Lymphoma by evaluation of immunoglobulin heavy chain gene rearrangement]

Rearrangement of V, D, and J segments of immunoglobulin heavy chain gene with inserted or deleted nucleotides within rearranged segments makes unique hypervariable regions [CDR-3]. These regions can be used for evaluation of B cell clonality for the purpose of molecular diagnosis of Non-Hodgkin Lymphoma [NHL] and for confirmatory diagnosis in suspicious cases. In this study, samples of 42 patients were collected from Taleghani, Baqhiyatalah, and Aliasghar hospitals; out of this number, there were 22 patients with diagnosis of B cell NHL, 10 with reactive hyperplasia, and 10 with malignant lymphoma. After DNA extraction from formalin fixed paraffin embedded tissues, PCR was done using consensus primers for amplification of CDR-3 region. PCR products were analyzed after heteroduplex analysis using polyacrylamide gel electrophoresis and silver stain. Results Clonal patterns in group 1 [B cell NHL], 2 [reactive and follicular hyperplasia], and 3 [morphological diagnosis without immunohistochemistry] were observed in 77.2%, 0%, and 70% of patients, respectively. Our findings are compatible with other international studies with minor differences. The diagnosis of B-cell lymphoid malignancy can frequently be substantiated by detecting clonal immunoglobulin heavy chain [IGH] gene rearrangement

Determining the mutation and the first reports of May Hegglin anomaly from Iran and the first homozygous E1841K mutations in the world

May-Hegglin anomaly [MHA] is a rare autosomal disorder which is characterized by triad of thrombocytopenia, giant platelets and Dohle like inclusion bodies in granulocytes. This is the first report of MHA and its mutation from Iran. The specimen of two patients [father 51 and son 15 y/o] collected with EDTA and tri-sodium citrate anticoagulants. CBC and peripheral blood smear studied by automatic cell counter and microscopic examination, respectively. Direct sequencing of extracted DNA of certain exons of MYH9 gene was performed. Both patients had demonstrated the diagnostic triad of MHA. Mutations showed homozygous and heterozygous pattern in the father and the son, respectively. This is the first report of MHA from Iran. The mutation of both patients was E1841K which is the most common type among MYH9 mutations in MHA. The most interesting finding was the homozygous mutation that did not entail any clinical severity