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Page 1 of 2 FISH Report PHYSICIAN PATIENT Patient: SAMPLE PATIENT DOB/Sex: MR/Chart #: Specimen: Paraffin Slides Collected: 10/25/2011 Received: 10/26/2011 SAMPLE DOCTOR Copies: REPORT DATE: 10/31/2011 Accession #: SPECIMEN All Specimens: 1 BMBX, 2 BMA Abnormal clone with loss of MLL with probes specific for recurrent abnormalities in Myelodysplastic Syndrome (MDS) INTERPRETATION: (D5S721,D5S23/EGR1) Normal (CEP7/D7S522) Normal (SE8/MYC) Normal (MLL) Abnormal with a deletion of MLL in 27% cells (MAPRE1/PTPRT) Normal FISH PROBES AND RESULTS: nuc ish (MLLx1)[54/200]/ (D5S721,D5S23x2,EGR1x2,CEP7x2,D7S522x2,SE8x2,MYCx2,MAPRE1x2,PTPRTx2) [200] KARYOTYPE: Fluorescence in situ hybridization (FISH)* with a panel of probes (Abbott, Kreatech) specific for detection of recurring chromosome abnormalities in MDS was performed on paraffin embedded cells. The regions/loci represented in these probe mixes were 5p15.3 (D5S721,D5S23), 5q31 (EGR1) and centromere of chromosome 7 (CEP 7), 7q31 (D7S522) to detect copy number/deletion of chromosomes 5 and 7 respectively, SE8/MYC to detect copy number of chromosome 8, a dual color break apart MLL probe to detect rearrangement/deletion at 11q23, and 20q11.2 (MAPRE1) and 20q12 (PTPRT) regions to detect deletion/copy number of chromosome 20. For each probe 200 cells were analyzed. Hybridization pattern for MLL is consistent with a loss of this region in 27% of the cells analyzed. All other probes demonstrated a normal hybridization pattern. Del(11q)/del of MLL is associated with ringed sideroblasts and iron overload in MDS patients with a relatively high frequency to AML progression. *This test was developed and its performance characteristics determined by the Cytogenetics laboratory at OncoMetrix as required by the CLIA’88 regulations. It has not been cleared or approved for specific uses by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational or for research. REFERENCE: Wang et.al., (2011) Myelodysplastic syndromes with deletions of chromosome 11q lack cryptic MLL rearrangements and exhibit characteristic clinicopathologic features. Leuk Res 35: 351-357 SUMMARY OBSERVATION: CLINICAL HISTORY: Anemia, NOS; MDS IDC9 Codes: 285.9, 238.75 CPT Codes: 88368x9 (877) 670-HEME (4363) Dr. Douglas W. Kingma, Laboratory Director OncoMetrix CLIA #: 44D0915029, TN License #: 0000003284 150 Collins Street, Memphis, TN 38812 Poplar Healthcare, PLLC Howard L. Martin, III, M.D., Medical Director

PATIENT PHYSICIAN SPECIMEN - Oncometrix · REFERENCE: Wang et.al., (2011) Myelodysplastic syndromes with deletions of chromosome 11q lack cryptic MLL rearrangements and exhibit characteristic

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Page 1: PATIENT PHYSICIAN SPECIMEN - Oncometrix · REFERENCE: Wang et.al., (2011) Myelodysplastic syndromes with deletions of chromosome 11q lack cryptic MLL rearrangements and exhibit characteristic

Page 1 of 2

FISH Report

PHYSICIANPATIENTPatient: SAMPLE PATIENTDOB/Sex:MR/Chart #:

Specimen: Paraffin SlidesCollected: 10/25/2011Received: 10/26/2011

SAMPLE DOCTORCopies:REPORT DATE: 10/31/2011

Accession #:

SPECIMEN

All Specimens: 1 BMBX, 2 BMA

Abnormal clone with loss of MLL with probes specific for recurrent abnormalities in Myelodysplastic Syndrome (MDS)

INTERPRETATION:

(D5S721,D5S23/EGR1) Normal(CEP7/D7S522) Normal(SE8/MYC) Normal(MLL) Abnormal with a deletion of MLL in 27% cells(MAPRE1/PTPRT) Normal

FISH PROBES AND RESULTS:

nuc ish (MLLx1)[54/200]/ (D5S721,D5S23x2,EGR1x2,CEP7x2,D7S522x2,SE8x2,MYCx2,MAPRE1x2,PTPRTx2)[200]

KARYOTYPE:

Fluorescence in situ hybridization (FISH)* with a panel of probes (Abbott, Kreatech) specific for detection of recurring chromosome abnormalities in MDS was performed on paraffin embedded cells. The regions/loci represented in these probe mixes were 5p15.3 (D5S721,D5S23), 5q31 (EGR1) and centromere of chromosome 7 (CEP 7), 7q31 (D7S522) to detect copy number/deletion of chromosomes 5 and 7 respectively, SE8/MYC to detect copy number of chromosome 8, a dual color break apart MLL probe to detect rearrangement/deletion at 11q23, and 20q11.2 (MAPRE1) and 20q12 (PTPRT) regions to detect deletion/copy number of chromosome 20. For each probe 200 cells were analyzed.Hybridization pattern for MLL is consistent with a loss of this region in 27% of the cells analyzed. All other probes demonstrated a normal hybridization pattern.Del(11q)/del of MLL is associated with ringed sideroblasts and iron overload in MDS patients with a relatively high frequency to AML progression.

*This test was developed and its performance characteristics determined by the Cytogenetics laboratory at OncoMetrix as required by the CLIA’88 regulations. It has not been cleared or approved for specific uses by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This test is used for clinical purposes. It should not be regarded as investigational or for research.

REFERENCE:

Wang et.al., (2011) Myelodysplastic syndromes with deletions of chromosome 11q lack cryptic MLL rearrangements and exhibit characteristic clinicopathologic features. Leuk Res 35: 351-357

SUMMARY OBSERVATION:

CLINICAL HISTORY:Anemia, NOS; MDS

IDC9 Codes: 285.9, 238.75 CPT Codes: 88368x9(877) 670-HEME (4363)

Dr. Douglas W. Kingma, Laboratory Director

OncoMetrix

CLIA #: 44D0915029, TN License #: 0000003284

150 Collins Street, Memphis, TN 38812Poplar Healthcare, PLLC

Howard L. Martin, III, M.D., Medical Director

Page 2: PATIENT PHYSICIAN SPECIMEN - Oncometrix · REFERENCE: Wang et.al., (2011) Myelodysplastic syndromes with deletions of chromosome 11q lack cryptic MLL rearrangements and exhibit characteristic

Page 2 of 2

FISH Report

PHYSICIANPATIENTPatient: SAMPLE PATIENTDOB/Sex:MR/Chart #:

Specimen: Paraffin SlidesCollected: 10/25/2011Received: 10/26/2011

SAMPLE DOCTORCopies:REPORT DATE: 10/31/2011

Accession #:

SPECIMEN

All Specimens: 1 BMBX, 2 BMA

IMAGES:

MLL D5S721,D5S23/EGR1 (5q) CEP7/D7S522 (7q)

SE8/CMYC MAPRE1/PTPRT (20q)

Anita Kulharya, Ph.D.Cytogenetics Director

Director review electronically signed10/31/2011 2:13 PM by

Mihaela Onciu, M.D.Hematopathologist

Electronically signed10/31/2011 2:24 PM by

IDC9 Codes: 285.9, 238.75 CPT Codes: 88368x9(877) 670-HEME (4363)

Dr. Douglas W. Kingma, Laboratory Director

OncoMetrix

CLIA #: 44D0915029, TN License #: 0000003284

150 Collins Street, Memphis, TN 38812Poplar Healthcare, PLLC

Howard L. Martin, III, M.D., Medical Director