title: PCR Analysis of IgH and TCR-γ Gene Rearrangements as a Confirmatory Diagnostic Tool for Lymphoproliferative Disorders.
abstract: This study investigates PCR analysis of immunoglobulin heavy chain (IgH) and T cell receptor (TCR) gene rearrangements on paraffin-embedded tissue sections and bone marrow aspirates of patients suspected to have lymphoproliferative disorders but with inconclusive diagnosis in histopathological examination. 130 samples of patients with inconclusive immunohistochemistry results were evaluated for clonal rearrangement of IgH and TCR genes. Based on histopathology examination, the patients were divided into three groups: the first group without any definite diagnosis of lymphoproliferative disorders (60 cases, 46.2 %), the second group suspected to have a lymphoproliferative disorder but in favor of benign disorders (19 cases, 14.6 %) and the third group suspect to lymphoproliferative disorders but relatively in favor of malignant disorders (51 cases, 39.2 %). After DNA extraction and quality control, semi-nested PCR was performed using consensus primers for amplification of TCR-γ and CDR-3 regions of IgH genes. PCR products were analyzed after heteroduplex analysis using polyacrylamide gel electrophoresis, and were subject to silver staining. Totally, in over half of the cases (55.4 %), a monoclonal pattern was found in IgH or TCR-γ genes rearrangements. Monoclonal IgH gene rearrangement was detected in 48.1 % of patients, whereas monoclonal TCR-γ gene rearrangement was found in 33.6 % of them, which was not statistically significant (P = 0.008). Only in 32 patients (24.6 %) were the results of TCR-γ and IgH gene rearrangements consistent with respect to the presence (2.3 %) or absence (22.3 %) of monoclonality. Finally, PCR analysis of TCR-γ and IgH gene rearrangements led to definite diagnosis in 105 patients (80.8 %), and only 25 cases (19.2 %) remained inconclusive. Our results emphasize the usefulness of gene rearrangement study in cases without a definite diagnosis in immunohistochemistry studies. Multiple PCR analysis results when combined with patient's clinical course and immunohistochemistry can lead to early diagnosis and subsequent therapy.
authors.affiliation: Tehran Medical Branch, Islamic Azad University, Zargandeh St, Shariati Ave, Tehran, Iran.
authors.forename: Behzad
authors.initials: B
authors.lastname: Poopak
authors.affiliation: Students' Scientific Research Center (SSRC), Tehran University of Medical Sciences (TUMS), Tehran, Iran ; National Foundation of Elites, Tehran, Iran.
authors.forename: Ali Kord
authors.initials: AK
authors.lastname: Valeshabad
authors.affiliation: Cancer Institute of Imam Khomeini Hospital, Tehran Medical Sciences University, Tehran, Iran.
authors.forename: Fazel
authors.initials: F
authors.lastname: Elahi
authors.affiliation: Hemato-Oncology Ward, Taleghani Hospital, Shahid Behshti Medical Sciences University, Tehran, Iran.
authors.forename: Hamid
authors.initials: H
authors.lastname: Rezvani
authors.affiliation: Payvand Clinical & Specialty Laboratory, No. 174 Zafar St., Shariati Ave, Tehran, Iran.
authors.forename: Gelareh
authors.initials: G
authors.lastname: Khosravipour
authors.affiliation: Payvand Clinical & Specialty Laboratory, No. 174 Zafar St., Shariati Ave, Tehran, Iran.
authors.forename: Mohammad Ali
authors.initials: MA
authors.lastname: Jahangirpour
authors.affiliation: Payvand Clinical & Specialty Laboratory, No. 174 Zafar St., Shariati Ave, Tehran, Iran.
authors.forename: Shirin
authors.initials: S
authors.lastname: Bolouri
authors.affiliation: Payvand Clinical & Specialty Laboratory, No. 174 Zafar St., Shariati Ave, Tehran, Iran.
authors.forename: Tolou
authors.initials: T
authors.lastname: Golkar
authors.affiliation: Health Research Institute, Research Center of Thalassemia and Hemoglobinopathy, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Salari
authors.affiliation: Health Research Institute, Research Center of Thalassemia and Hemoglobinopathy, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Shahjahani
authors.affiliation: Health Research Institute, Research Center of Thalassemia and Hemoglobinopathy, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
authors.forename: Najmaldin
authors.initials: N
authors.lastname: Saki
keywords: Gene rearrangement; Immunoglobulin heavy chain; T-cell receptor-γ