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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 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