Diagnostics
Our laboratory has been performing molecular tests related mostly to haematopathology for more than two decades. The analyses are performed on peripheral blood and bone marrow samples, cytological preparations as well as paraffin-embedded, formalin-fixed tissue blocks. Besides the service provided to the clinics of the University of Pécs, we perform molecular pathological investigations for patients in Baranya, Somogy, Tolna, Veszprém, Zala, and Győr-Sopron counties, including pediatric patients of the Markusovszky County Hospital, Szombathely and Paediatric Clinic of the University of Szeged.
The following tests are performed as part of our routine diagnostics:
- Non-small cell lung cancer: KRAS and EGFR mutations
- Colorectal cancer: KRAS, NRAS, and BRAF mutations
- Melanoma: BRAF, NRAS, and KIT mutations
- GIST (gastrointestinal stromal tumor): PDGFRA and KIT mutations
- Rhabdomyosarcoma: MYOD1 mutations
- Chronic myeloid leukemia: BCR-ABL1 quantitative and qualitative analysis, BCR-ABL1 kinase domain mutations
- Ph-negative myeloproliferative neoplasms: JAK2-V617F and JAK2 exon 12, CALR, MPL and KIT mutations
- Acute lymphoblastic leukemia: BCR-ABL1 quantitative and qualitative analysis
- Acute myeloid leukemia: PML-RARA quantitative and qualitative analysis, FLT3-ITD and FLT3-TKD, and NPM1 and IDH1/2 mutations
- Chronic lymphocytic leukemia: IGH mutational status analysis and TP53 mutations
- Lymphomas: IGH, TCRG, and TCRD clonality testing
Research
The mutational status of the IGH gene – one of the most important molecular prognostic markers in this disease – was investigated in a large cohort of CLL patients in our lab among the first in Hungary.
We have the largest molecular database of pediatric ALL cases in Hungary, our lab was one of the firsts in the country to perform clone-specific PCR and ETV6-RUNX1 based molecular monitoring during treatment. We have extensively investigated the correlation and differences between the results of different molecular tests.
Mutations of JAK2, CALR, and MPL genes are the most common and relevant in myeloproliferative neoplasms. However, it is unclear what is the relationship between mutations and phenotype, since the same mutation may induce different diseases, and distinct mutations may be detected in the same clinicopathological context. We are trying to unravel the connection of mutation to morphology by in situ analysis of CALR mutations and to detect clinicopathological correlations.
Using methods based on X inactivation, it is possible to demonstrate clonality in the case of myeloid neoplasms. We have performed HUMARA test on a large cohort of patients with myeloproliferative neoplasm and determined the clonality within the myeloid and lymphoid cell populations.
We are investigating the molecular and cytogenetic characteristics of tyrosine-kinase inhibitor resistance of CML patients, and the phenomenon of Philadelphia-negative clonal evolution.
Publications
Turiak L, Kaszás B, Katona K, Lacza Á, Márk L, Vékey K, Drahos L, Tornóczky T. Localized Amyloidosis of the Upper Aerodigestive Tract: Complex Analysis of the Cellular Infiltrate and the Amyloid Mass. Anal Cell Pathol (Amst). 2019 Aug 19;2019:6165140.
Kosztolányi S, Horváth B, Hosnyánszki D, Kereskai L, Sziládi E, Jáksó P, Alizadeh H, Szuhai K, Alpár D, Kajtár B. [Molecular cytogenetic analyses of patients with plasma cell myeloma in Tolna and Baranya counties in Hungary]. Orv Hetil. 2019 Jun;160(24):944-951.
Mózes R, Gángó A, Sulák A, Vida L, Reiniger L, Timár B, Krenács T, Alizadeh H, Masszi T, Gaál-Weisinger J, Demeter J, Csomor J, Matolcsy A, Kajtár B, Bödör C. Calreticulin mutation-specific CAL2 immunohistochemistry accurately identifies rare calreticulin mutations in myeloproliferative neoplasms. Pathology. 2019 Apr;51(3):301-307.
Vida L, Ottóffy G, Rózsai B, Stankovics J, Tóth B, Nyúl Z, Kajtár B. [X-linked lymphoproliferative syndrome (XLP): When Epstein–Barr virus (EBV) meets a unique mutation]. Hemat Transzf 2018;51(2):86-91.
Gángó A, Mózes R, Boha Z, Kajtár B, Timár B, Király PA, Kiss R, Fésüs V, Nagy N, Demeter J, Körösmezey G, Borbényi Z, Marton I, Szőke A, Masszi T, Farkas P, Várkonyi J, Plander M, Pósfai É, Egyed M, Pál K, Radványi G, Hamed A, Csomor J, Matolcsy A, Alpár D, Bödör C. Quantitative assessment of JAK2 V617F and CALR mutations in Philadelphia negative myeloproliferative neoplasms. Leuk Res. 2018 Feb;65:42-48.
Fésüs V, Marosvári D, Kajtár B, Király PA, Demeter J, Gurbity Pálfi T, Egyed M, Plander M, Farkas P, Mátrai Z, Matolcsy A, Bödör C. [TP53 mutation analysis in chronic lymphocytic leukaemia]. Orv Hetil. 2017 Feb;158(6):220-228.
László T, Lacza A, Tóth D, Molnár TF, Kálmán E. Pulmonary enteric adenocarcinoma indistinguishable morphologically and immunohistologically from metastatic colorectal carcinoma. Histopathology. 2014 Aug;65(2):283-7.
Yadamsuren EA, Nagy S, Pajor L, Lacza A, Bogner B. Characteristics of advanced- and non-advanced sporadic polypoid colorectal adenomas: correlation to KRAS mutations. Pathol Oncol Res. 2012 Oct;18(4):1077-84.
László R, Alpár D, Kajtár B, Lacza A, Ottóffy G, Kiss C, Bartyik K, Nagy K, Pajor L. Detection of early precursors of t(12;21) positive pediatric acute lymphoblastic leukemia during follow-up. Pediatr Blood Cancer. 2010 Jan;54(1):158-60.
Smuk G, Illés A, Keresztes K, Kereskai L, Márton B, Nagy Z, Lacza A, Pajor L. Pheno- and genotypic features of Epstein-Barr virus-associated B-cell lymphoproliferations in peripheral T-cell lymphomas. Pathol Oncol Res. 2010 Sep;16(3):377-83.
László R, Degrell P, Kellermayer M, Bollmann D, Egyed M, Seress L, Pajor L. Crystal-storing histiocytosis associated with only one of two consecutive, but genetically unrelated B-cell lymphomas. Pathol Res Pract. 2009;205(4):273-8.
Kajtár B, Jáksó P, Kereskai L, Lacza A, Méhes G, Bodnár MA, Dombi JP, Gasztonyi Z, Egyed M, Iványi JL, Kovács G, Marton E, Palaczki A, Petz S, Tóth P, Sziládi E, Losonczy H, Pajor L. Prognosztikai faktorok komplex vizsgálata krónikus lymphocytás leukémiában. Orv Hetil. 2007 Apr 22;148(16):737-43.
Jáksó P, Kereskai L, Molnár L, Pajor L. Lineage-specific clonality analysis of chronic myeloproliferative disorders and myelodysplastic syndrome by human androgen receptor assay. Pathol Oncol Res. 2007; 13(2): 114-22.
Pajor L, Kajtár B, Jáksó P, Lacza A, László R, Radványi G, Mórocz I, Tóth A, Varga G. Epstein-Barr virus-induced B-cell proliferation of Hodgkin's and Reed-Sternberg cell pheno- and genotype may develop in peripheral T-cell lymphomas. Histopathology. 2006 Nov;49(5):553-7.
Méhes G, Kovács G, Kajtár B, Lacza A, Várnai A, Losonczy H, Pajor L. Karyotype complexity and VH gene status in B-cell chronic lymphocytic leukemia. Haematologica. 2006 Oct;91(10):1430-1.
Kajtár B, Méhes G, Jaksó P, Kereskai L, Iványi JL, Losonczy H, Egyed M, Tóth P, Tóth A, Gasztonyi Z, Dömötör M, Pajor L. A krónikus myeloid leukaemia citogenetikai és molekuláris monitorizálása. Orv Hetil. 2006 May 28; 147(21): 963-70.
Pajor L, Lacza A, Kereskai L, Jáksó P, Egyed M, Iványi JL, Radványi G, Dombi P, Pál K, Losonczy H. Increased incidence of monoclonal B-cell infiltrate in chronic myeloproliferative disorders. Mod Pathol. 2004 Dec;17(12):1521-30.
Pajor L, Kereskai L, Zsdrál K, Nagy Z, Vass JA, Jáksó P, Radványi G. Philadelphia chromosome and/or bcr-abl mRNA-positive primary thrombocytosis: morphometric evidence for the transition from essential thrombocythaemia to chronic myeloid leukaemia type of myeloproliferation. Histopathology 2003 Jan; 42(1): 53-60.
Pajor L, Lacza A, Jáksó P, Kajtár B. Characteristics of TEL/AML-1 positive acute lymphoblastic leukemia in Hungarian children. Med Pediatr Oncol. 2001 Oct;37(4):409-11.
Pajor L, Vass JA, Kereskai L, Kajtár P, Szomor A, Egyed M, Iványi J, Jáksó P. The existence of lymphoid lineage restricted Philadelphia chromosome-positive acute lymphoblastic leukemia with heterogeneous bcr-abl rearrangement. Leukemia 2000 Jun; 14(6): 1122-6.
Pajor L, Vass JA, Kereskai L, Szuhai K, Molnár L, Jáksó P. Silent Philadelphia chromosome: a distinct developmental stage in a philadelphia chromosome-positive chronic myeloproliferation? Cancer Genet Cytogenet. 2000 Apr 1;118(1):14-9.
Staff
Lacza Ágnes
biologist
Hermesz Judit
medical diagnostic analyst
Makkos-Weisz Anett
biologist
Horányi Edina
medical diagnostic analyst
Pónya Adrienn
medical diagnostic analyst
Kapitány Emese
biologist
Nikolett Szabó
biologist