T-lymphoblastic lymphoma with an unusual t(8;14)(q24;q11) - case report

Scientific paper - Case study

• Title (croatian): T-limfoblastični limfom sa rijetkom translokacijom t(8;14)(q24;q11) - prikaz slučaja
• Author: Inga Mandac
• Author: Slobodanka Ostojić Kolonić
• Author: Radovan Vrhovac
• Author: Ružica Lasan-Trčić
• Author: Jasminka Jakelić-Piteša
• Author: Ika Kardum-Skelin
• Author's institution: University of Zagreb; School of Medicine
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences

Abstract (english)

Cytogenetic abnormalities seen at presentation of acute lymphoblastic leukemia or lymphoblastic lymphoma (ALL/ LBL) are associated with distinct clinical and hematologic disease entities. T-ALL/LBL are morphologically indistinguishable from those of B-ALL/LBL. An abnormal kariotype is found in 50–70% of cases of T-ALL/LBL. We present a 35-year old male patient with T-ALL/LBL and t(8;14)(q24;q11.2). Our patient presented with B-symptoms, bulky mediastinal disease and CNS infiltration. Bone marrow was morphologically normal and cytogenetically without clonal aberrations. Cytological findings of the supraclavicular lymph node showed numerous CD3 positive (100%) and CD2 positive (88%) lymphoblasts, negative for CD34 and CD10. Flow cytometry of lymph node revealed T cell phenotype of immature cells: CD45+CD2+CD5+CD7+CD4+CD8+CD3cyt +CD3TdT+CD10-CD34-HLAD/DR-. Cytogenetic analysis of lymph node showed translocation t(1;4)(p32;p12), t(8;14)(q24;q11.2). Southern blot analysis of extracted DNA from the supraclavicular lymph node demonstrated clonal rearrangement of the T cell antigen receptor (TCR/J) gene (region Vb+Jb2). Based on these findings, diagnosis of T lymphoblastic non Hodgkin lymphoma was established. Cerebrospinal fluid analysis showed CNS infiltration with 49% lymphoblasts positive for CD4 and CD8. The disease progressed rapidly with poor response to therapy. T-ALL/LBL with an unusual t(8;14)(q24;q11.2) is a very rare hematologic disorder with rapid disease progression and poor response to conventional therapy because of frequent central nervous system involvement and early relapses.

Abstract (croatian)

Citogenetske abnormalnosti koje se javljaju kod akutne limfoblastične leukemije ili limfoblastičnog limfoma (ALL/ LBL), povezane su s različitim kliničkim i hematološkim entitetima. T-ALL/LBL je morfološki prepoznatljiv u odnosu na B-ALL/LBL. Abnormalan kariotip se može naći u 50–70% slučajeva T-ALL/LBL. Prikazujemo slučaj 35-godišnjeg bolesnika sa T-ALL/LBL i t(8;14)(q24;q11.2) koji se prezentirao B-simptomima, proširenom medijastinalnom bolesti i infiltracijom CNS-a. Koštana srž je morfološki bila normalna bez klonskih aberacija. Citologija supraklavikularnog limfnog čvora opisala je brojne CD3 pozitivne (100%) i CD2 pozitivne (88%) limfoblaste, negativne za CD34 i CD10. Protočna citometrija limfnog čvora pokazala je T-stanični fenotip nezrelih stanica: CD45+CD2+CD5+CD7+CD4+ CD8+CD3cyt+CD3TdT+CD10-CD34-HLAD/DR-. Citogenetskom analizom limfnog čvora nađena je translokacija t(1;4)(p32;p12) i t(8;14)(q24;q11.2), a Southern blot analizom ekstrahirane DNA iz supraklavikularnog limfnog klonalno preuređenje TCR/J gena (regija Vb+Jb2). Postavljena je dijagnoza T-limfoblastičnog ne-Hodgkinovog limfoma. Analizom likvora nađe se infiltracija CNS-a s 49% limfoblasta pozitivnih na CD4 i CD8. Bolest je brzo napredovala, a odgovor na terapiju je bio slab. T-ALL/LBL sa neuobičajenom t(8;14)(q24;q11.2) je vrlo rijedak hematološki poremećaj s brzim napredovanjem bolesti i slabim odgovorom na standardnu terapiju, dijelom i radi česte zahvaćenosti središnjeg živčanog sustava i ranog relapsa.

• Keywords (english): Adult; Chromosome Aberrations; Chromosomes, Human, Pair 14; Chromosomes, Human, Pair 8; Fatal Outcome; Humans; In Situ Hybridization, Fluorescence; Lymph Nodes/pathology; Lymphoma, T-Cell/genetics; Lymphoma, T-Cell/pathology; Male; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics; Precursor Cell Lymphoblastic Leukemia-Lymphoma/pathology; T-Lymphocytes/pathology; Translocation, Genetic
• Language: english
• Publication type: Scientific paper - Case study
• Publication status: Published
• Peer review: Peer review
• Publication version: Published version
• Journal title: Collegium Antropologicum
• Numbering: vol. 34, no. 1, pp. 265-269
• p-ISSN: 0350-6134
• URN:NBN: urn:nbn:hr:105:692677
• Publication: 2010-03
• Document URL: https://hrcak.srce.hr/51276
• Type of resource: Text
• Access conditions: Open access
• Created on: 2024-03-28 11:41:09