Cytology : Trilineage dyspoiesis consistent with myelodysplasia. |
Immunophenotype : CD7: 44.4%, CD13: 67.5%, CD34: 28.7%, CD117: 30.9%, HLA-DR: 38.5%, CD38: 71.4%.
|
Rearranged Ig Tcr : n/a |
Pathology : Flow cytometric analysis of the specimen labeled bone marrow reveals a significant population of myeloblasts (approximately 29% of cells that could be studied in the sample) with most expressing abnormal CD7 (up to 1/3 is CD7 negative), CD13, CD33 (expression ranges from essentially undetectable up to moderately positive), CD34, CD38, CD45, CD117, and HLA-DR. Approximately half of the blast population is above the negativity threshold and shows dim to moderate intensity, CD123 expression. The remaining myeloid cells show minor abnormalities in antigen expression with respect to acquisition of full intensity CD13 and CD16. The change is less than typically occurs in well-defined MDS cases. |
Electron microscopy : n/a |
Precise diagnosis : Flow cytometry- Acute myelogenous leukemia with ~29% myeloblasts. Morphology- therapy-related myelodysplasia with 18% blasts. |
Sample : Bone marrow ; culture time : 24 h, culture (unstimulated) and 48 hour culture (unstimulated). ; banding : GTW |
Results : 46,XX,t(4;12)(q11;p13)[20] |
Karyotype at relapse : n/a |
Other molecular cytogenetics technics : Interphase FISH using Vysis LSI 4q12 Tricolor Rearrangement Probe (Abbott). Interphase FISH using LSI break apart probe for ETV6 (Abbott) was attempted on destained slides, no signals were detected. |
Other molecular cytogenetics results : nuc ish(SCFD2,LNX,PDGFRA,KIT)x2 (SCDF2 con LNX sep PDGFRA,KITx1). |
technics : OncoChip™ / CNE. Microarray analysis using a whole genome oligonucleotide array, which specifically targets genes, micro RNAs and specific genomic intervals with known or suspected relevance to cancer. |
results : CNE Results. arr(1-22,X)x2 Normal Female. Unclear findings. arr 7q34(141,693,456-141,719,136)x4,14q32.33(105,949,400-105,987,288)x0~1. Finding TCR and IGH rearrangements in the same clone is not unheard of as there is crosstalk. CNE hasn't been validated as a test for clonality. |
A specific chromosome abnormality of t(4;12)(q11-12;p13) in CD7+ acute leukaemia. |
Harada H, Asou H, Kyo T, Asaoku H, Iwato K, Dohy H, Oda K, Harada Y, Kita K, Kamada N. |
Br J Haematol. 1995 Aug;90(4):850-4. |
PMID 7545425 |
|
Characterization of acute leukemia with t(4;12). |
Harada H, Harada Y, Eguchi M, Dohy H, Kamada N. |
Leuk Lymphoma. 1997 Mar;25(1-2):47-53. |
PMID 9130613 |
|
Evidence for position effects as a variant ETV6-mediated leukemogenic mechanism in myeloid leukemias with a t(4;12)(q11-q12;p13) or t(5;12)(q31;p13). |
Cools J, Mentens N, Odero MD, Peeters P, Wlodarska I, Delforge M, Hagemeijer A, Marynen P. |
Blood. 2002 Mar 1;99(5):1776-84. |
PMID 11861295 |
|
t(4;12)(q11;p13): a rare chromosomal translocation in acute myeloid leukemia. |
Chauffaille Mde L, Fermino FA, Pelloso LA, Silva MR, Bordin JO, Yamamoto M. |
Leuk Res. 2003 Apr;27(4):363-6. (REVIEW) |
PMID 12531229 |
|
Screening for diverse PDGFRA or PDGFRB fusion genes is facilitated by generic quantitative reverse transcriptase polymerase chain reaction analysis. |
Erben P, Gosenca D, Muller MC, Reinhard J, Score J, Del Valle F, Walz C, Mix J, Metzgeroth G, Ernst T, Haferlach C, Cross NC, Hochhaus A, Reiter A. |
Haematologica. 2010 May;95(5):738-44. doi: 10.3324/haematol.2009.016345. Epub 2010 Jan 27. |
PMID 20107158 |
|
A rare t(4;12)(q12;p13) in an adolescent patient with acute myeloid leukemia. |
Manabe M, Nakamura K, Inaba A, Fujitani Y, Kosaka S, Yamamura R, Inoue A, Hino M, Senzaki H, Ohta K. |
Cancer Genet Cytogenet. 2010 Jul 1;200(1):70-2. doi: 10.1016/j.cancergencyto.2010.03.012. |
PMID 20513538 |
|