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(Paper co-edited with the European LeukemiaNet)
Translocation t(8;14)(q24;q32) as a clue for the diagnosis of B cell prolymphocytic leukemia
Written2011-03Steven Richebourg, Richard Garand, Bruno Villemagne, Celine Bossard, Anne Moreau, Pascaline Talmant
Laboratoire d'Hematologie, University Hospital, Nantes, France
Age and sex : 64 year(s) old male patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : no hepatomegaly ; no splenomegaly ; enlarged lymph nodes (occurence of an organomegaly on January 2011 with diaphragmatic lymph nodes and tonsil infiltration); no central nervous system involvement
WBC : 14 x 109/L (6); Hb : 14 g/dL (2); platelets : 212 x 109/L; blasts : with % (65 polynuclear neutrophils 27% lymphocytes and 8% monocytes. 45% of the lymphocytes present a typical morphology of prolymphocytes with enlarged and basophilic cytoplasm and presence of a unique prominent nucleolus.).
Cyto pathology classification
Cytology : Prolymphocytic leukaemia
Immunophenotype : CD19+, CD5+(high),CD23+(low), CD22+(high), CD79b+(high), FMC7+, surface Ig Lambda (high). Matutes score = 2 (CD10-, CD20+ high, CD43-, CD81+ high)
Rearranged Ig Tcr : not done
Pathology : Large infiltration of the tonsil by a monomorphic B-cell lymphoma with a diffuse growth pattern composed of small to medium-sized cells positive for CD5, compatible with the diagnosis of mantle cell lymphoma, but without expression of cycline D1.
Electron microscopy : not done
Precise diagnosis : B cell prolymphocytic leukaemia
Date of diagnosis: 02-2009 (flow cytometry and FISH analysis) First conventionnal cytogenetic analysis performed on 01-2011.
Treatment : none to date
Complete remission : None
Treatment related death : -
Relapse : N/A
Status : Alive 02-2011
Sample : Blood sample ; culture time : 72 h, with DSP30+IL2 ; banding : RHG
Results :
Karyotype at relapse : 46,XY,t(3;17)(q26;q12),t(8;14)(q24;q32)[20]
Other molecular cytogenetics results : FISH analysis using MYC break apart (Abbott-5J9101) and IgH break apart (Abbott-5J7301) probes on blood sample : confirmation of MYC and IgH rearrangements on respectively 89 and 90% of the cells. FISH analysis on tonsil sample : confirmation of MYC and IgH rearrangements on respectively 80 and 73% of the cells.
Other molecular studies
results : Complementary FISH analysis on initial blood sample (02-2009): - using MYC Break apart probe : presence of MYC rearrangement in 94% of the cells; - using CLL probe set (Abbott-8L5320) : no deletion 17p, no deletion 11q, no trisomy12, no deletion 13q.
Typical morphology of prolymphocytes observed on blood sample (MGG staining, x100).
A) Monomorphic lymphoid proliferation with a diffuse growth pattern composed of small to medium-sized cell with slighly irregular nuclear contours (HES-stained section, x400 magnifications). B) The lymphoma cells, intermingled with small reactive T cells, strongly express CD5 (immunohistochemistry on paraffin-embedded section, x400 magnifications).
Conventional RHG karyotype with the presence of a t(8;14)(q24;q32) [indicated by red arrows] associated with a t(3;17)(q26;q12).
FISH metaphase observed on blood sample using MYC break apart probe and showing a split of the fusion signal resulting in the 5'MYC signal located on the der(8) and the 3'MYC signal located on the der(14).
Interphasic nuclei of tonsil sample observed by hybridization in situ with MYC break apart probe showing a split of the fusion signal in 1 red and 1 green signals demonstrating the presence of MYC rearrangement.
MYC rearrangement in chronic lymphocytic disorder is a very rare event (<1 % of CLL) (Lu et al., 2010). The presence of the t(8;14) translocation is preferentially associated with increased prolymphocytes (Huh et al., 2008; Merchant et al., 2003), and, indeed, is described as a recurrent abnormality in B cell prolymphocytic leukaemia (Merchant et al., 2003; Kuriakose et al., 2004; Crisostomo et al., 2007). In the case reported here, two years after the description of 14q32-IgH rearrangement on blood sample, the discovery of a t(8;14) by conventional karyotype was an important clue for the orientation of the diagnosis after reviewing cytologic and immunophenotypic data. In addition, these data lead to reconsider also the initial histopathologic hypothesis of mantle cell lymphoma all the more as no t(11;14) translocation as well as non hyperexpression of cycline D1 were present. Identification of a B cell prolymphocytic leukaemia is essential because of the potential rapid evolution with rising of leucocytes count and the poor response to CLL therapies (Swerdlow et al., 2008).
Internal links
Atlas Cardt(8;14)(q24;q32)
Mature B-cell leukemias with more than 55% prolymphocytes: report of 2 cases with Burkitt lymphoma-type chromosomal translocations involving c-myc.
Merchant S, Schlette E, Sanger W, Lai R, Medeiros LJ.
Arch Pathol Lab Med. 2003 Mar;127(3):305-9.
PMID 12653573
Translocation (8;14)(q24;q32) as the sole cytogenetic abnormality in B-cell prolymphocytic leukemia.
Kuriakose P, Perveen N, Maeda K, Wiktor A, Van Dyke DL.
Cancer Genet Cytogenet. 2004 Apr 15;150(2):156-8.
PMID 15066324
Complex karyotype including chromosomal translocation (8;14) (q24;q32) in one case with B-cell prolymphocytic leukemia.
Crisostomo RH, Fernandez JA, Caceres W.
Leuk Res. 2007 May;31(5):699-701. Epub 2006 Sep 25.
PMID 16997373
MYC translocation in chronic lymphocytic leukaemia is associated with increased prolymphocytes and a poor prognosis.
Huh YO, Lin KI, Vega F, Schlette E, Yin CC, Keating MJ, Luthra R, Medeiros LJ, Abruzzo LV.
Br J Haematol. 2008 Jul;142(1):36-44. Epub 2008 May 8.
PMID 18477041
WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues.
Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW (Eds).
IARC: Lyon. 2008.
Genetic and immunophenotypic profile of IGH@ rearrangement detected by fluorescence in situ hybridization in 149 cases of B-cell chronic lymphocytic leukemia.
Lu G, Kong Y, Yue C.
Cancer Genet Cytogenet. 2010 Jan 1;196(1):56-63.
PMID 19963136


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