Atlas of Genetics and Cytogenetics in Oncology and Haematology

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(Paper co-edited with the European LeukemiaNet)
Patient with t(4;12)(q11;p13) with therapy-related MDS and known history of stage II metastatic colorectal cancer
Written2012-09Elizabeth Callahan, Roger Schultz, Theresa C Brown
CSI Laboratories, 2580 Westside Parkway, Alpharetta, GA 30004, USA (EC, TCB); Signature Genomic Laboratories, Perkin Elmer Inc., Spokane, WA 99207, USA (RS)
Age and sex : 63 year(s) old female patient.
Previous History : no preleukemia
Patient diagnosed with rectal cancer 8/03 treated with surgery and adjuvant chemo and radiation therapy. 9/2008 stage II isolated metastatic colorectal cancer involving the lung. Patient was treated with surgical resection and 5FU therapy and radiation. Patient is currently in remission. Has sibling with renal cell carcinoma.
no inborn condition of note
Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
WBC : 7.8 x 109/L ; Hb : 11.2 g/dL ; platelets : 176 x 109/L; blasts : 18 % (18-29 bone marrow/ 4% peripheral blood).
Bone marrow : 28.3% segmented neutrophils, 10% eosinophils, 48.5% lymphocytes, 12.1% monocytes, 1.0% myelocytes, 2.0% metamyelocytes, and 3.0% atypical lymphocytes.
Cyto pathology classification
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.
Date of diagnosis: 07-2010
Treatment : Patient is being treated with Vidasia, induction chemotherapy and salvage chemotherapy.
Complete remission : None
Treatment related death : n/a
Relapse : n/a
Status : Alive 03-2012
Survival : 20 month(s)
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).
Other molecular studies
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.
Fig. 1: Rare t(4;12)(q11;p13) found in a female patient with known history of metastatic colorectal cancer presenting with secondary high grade myelodysplastic syndrome.
Fig. 2: Confirmation of 4q12 rearrangement using Vysis LSI 4q12 Tricolor Rearrangement Probe (Abbott).
Rare t(4;12)(q12;p13) found in a 63 year old female with history of stage II isolated metastatic colorectal cancer involving the lung. Results were confirmed by interphase FISH utilizing Vysis 4q12 Tricolor Rearrangement Probe (Abbott). Microarray studies were conducted using OncoChip™ whole genome oligonucleotide array, and yielded the following results: CNE result arr(1-22,X)x2 Normal Female, result with unclear clinical significance: arr 7q34(141,693,456-141,719,136)x4,14q32.33(105,949,400-105,987,288)x0~1.
Internal links
Atlas Cardt(4;12)(q11-q21;p13)
Case ReportThe rare t(4;12)(q11;p13) in an elderly patient with de novo AML with multilineage dysplasia co-expressing stem cell markers
Case Reportt(4;12)(q11;p13) in an acute myeloid leukemia without maturation with myelodysplasia
Case ReportA t(4;12)(q11;p13) in a patient with coincident CLL at the same time of AML diagnosis
Case ReportA new case of t(4;12)(q12;p13) in a secondary acute myeloid leukemia with review of literature
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


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