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+ 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.

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63 yrs

F

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7.8

11.2

176

18 18-29% bone marrow/ 4% peripheral blood

28.3% segmented neutrophils, 10% eosinophils, 48.5% lymphocytes, 12.1% monocytes, 1.0% myelocytes, 2.0% metamyelocytes, and 3.0% atypical lymphocytes.

Trilineage dyspoiesis consistent with myelodysplasia.

CD7: 44.4%, CD13: 67.5%, CD34: 28.7%, CD117: 30.9%, HLA-DR: 38.5%, CD38: 71.4%.

n/a

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.

n/a

Flow cytometry- Acute myelogenous leukemia with ~29% myeloblasts. Morphology- therapy-related myelodysplasia with 18% blasts.

07-2010

Patient is being treated with Vidasia, induction chemotherapy and salvage chemotherapy.

Refractory AML s/p chemotherapy.

n/a

n/a

A

03-2012

20

Bone marrow

24 culture (unstimulated) and 48 hour culture (unstimulated).

GTW

46,XX,t(4;12)(q11;p13)[20]

n/a

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.

nuc ish(SCFD2,LNX,PDGFRA,KIT)x2 (SCDF2 con LNX sep PDGFRA,KITx1).

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.

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.

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.