Naslov
PCR-based clonality assessment in case of lymphoproliferative disorder (LPD)

Autori
Kardum Paro, Mirjana Mariana ; Šiftar, Zoran ; Škrtić, Anita ; Dominis, Mara ; Flegar-Meštrić, Zlata, Jakšić, Branimir

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
First European Joint Congress of EFCC and UEMS / - Lisabon, 2010

Skup
First European Joint Congress of EFCC and UEMS

Mjesto i datum
Lisabon, Portugal, 13.10.2010. - 16.10.2010

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Lymphoproliferative disorders; flow cytometry immunophenotyping; PCR-based clonality

Sažetak
Rationale. Lymphoproliferative disorders (LPDs) are generally diagnosed based on histopathological features and flow cytometry immunophenotyping. Molecular analysis of T cell receptor (TCR) and immunoglobulin (Ig) genes rearrangement is often a useful adjunct in discrimination between reactive and malignant lymphoproliferations, specially in cases with suspected LPD. Aim. To investigate weather the molecular analysis of TCR/Ig genes rearrangement could be useful in case with initial histopathological suspicion of T-LPD. Materials and Methods. Histopathology and flow cytometry immunophenotyping of patients bone marrow (BM) and peripheral blood (PB) samples were performed together with standardized PCR- based molecular analysis of TCR (betta/gamma), IgH (FR1/FR2/FR3) and IgK (Vk/Vk-Kde) genes rearrangement according BIOMED-2 report. Results. Histopathological examination revealed a hypercelullar BM infiltrated with small T lymphocytes (CD3+CD20-) while detailed flow cytometric analysis of BM and PB revealed a population of T lymphocytes with a phenotype indicative of a neoplastic T cell proliferation (CD2+CD3+CD5+CD56+CD38+CD7+). In molecular analysis of TCRB genes a particular clone of specific size was predominant in both patients samples (regions Vb+Jb1+Jb2 ; Db+Jb) supporting the diagnosis of T-LPD. Although additional molecular analysis of Ig genes (IgH and IgK) revealed dual rearrangement involving IgH (regions FR2 ; DH7-JH) and TCR genes, the LPD was considered as T-cell type because it did not express any B-cell surface antigens (CD19- CD20- CD22-). Conclusion. PCR assay was able to demonstrate clonal TCRB gene rearrangement and concordant results between patients BM and PB samples. The current study also provides evidence for the existence of dual rearrangements found in about 20% of T-LPDs with a clonal Ig heavy chain (IgH) rearrangement. Although our selected case is in 5-10% cases of daily practice that might benefit from routine application of molecular clonality analysis, the TCR clonality results should always be interpreted in conjunction with histopathology and flow cytometry immunophenotyping results.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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