Dear Trey,
It was frustrating trying to get this report, nobody would give it to me, but I finally received it, with the last page missing. I noticed the last page was missing, and I requested it, and the answer was that my chart has been sent back to Medical records, and now I have to wait one month for my next appointment with the hematologist, and to receive my missing copy.
Specimen date: 26/02/14 RECEIVED DATE: 28/02/14 Printed on: March 11/14 1001 Specimen: Peripheral blood
ADDENDUM #1 MOLECULAR ONCOLOGY RESULTS: BCR-ABL fusion gene transcripts were detected in this specimen by quantitive RT-PCR (Q-RT-PCR) at diagnostic levels.
INTERPRETATION: Using quantitive RT-PCR, the level of transcripts detected in this specimen was determined to be consistent with diagnostic levels. Follow up peripheral blood specimens will be tested to determine the patient's degree of response to treatment and MMR status on the International Scale. TEST SUMMARY AND REFERENCES: BCR-ABL gene fusion results from a reciprocal translocation between chromosomes 9 and 22, and is causally associated with CML. The fusion gene is transcribed into a chimeric BCR-ABL mRNA; in about 95% of patients, the fusion protein results from major BCR-ABL breakpoints involving exon b2 or b3 of BCR, and exon a2 of ABL (b3a2 and b2a2 rearrangements). Translation of both b2a2 and b3a2 transcripts yield a 210-KDa fusion protein (p210). This test methodology quantitates the amount of b2a2r b3a3 BCR-ABL expression relative to ABL expression. RNA is extracted, reverse-transcribed into cDNA, and analyzed using qRT-PCR (Ipsogen BCR-ABL Mbcr IS-MMR Kit, Ref FQPP-10 MMR). This kit has been validated in our laboratory and provides results equivalent to previously reported values. Three estimates are calculated including: % BCR-ABL/ABL-equivalent to the Normalized Copy Number (NCN); Log Reduction-reduction in transcript numbers relative to the laboratory determined median level from the cumulative database of diagnostic specimens expressed in log10 scale; IS-NCN-the % BCR-ABL converted to the International Scale as per manufacturer (Ipsogen).
Assessment of clinical significance requires correlation to the levels commonly seen in diagnostic specimens. Lack of major molecular response is defined as IS-NCN greater than or equal to 0.15, while major molecular response is defined as IS-NCN at or below 0.05. IS-NCN levels between 0.05 and 0.15 are defined as borderline major molecular response. This is to account for the technical variation associated with the kit specifications (Ipsogen), since the clinical definition of MMR is an IS-NCN of 0.1%.
The International Scale in routine practice is valid only below 10% due to control gene-dependent distortions at high disease levels. The estimated transcript at levels below 0.0069 are reported as "detectable but below quantifiable range". If expression of BCR-ABL transcript is not detectable in this assay the result is reported as "Below limit of detection". AMPLIFICATION: Multiplex PCR MOLECULAR ONCOLOGY RESULTS: BCR-ABL fusion gene was detected by PCR. The amplification product is consistent with an mRNA transcript resulting from a b3a2 breakpoint.
INTERPRETATION: The BCR-ABL fusion gene producing a 210 KDA protein product was detected. This is most commonly associated with a diagnosis of CML.
TEST SUMMARY AND REFERENCES: BCR-ABL gene rearrangement with Philadelphia chromosome.
The Philadelphia (PH) chromosome is shown by banding techniques to result fro m the reciprocal translocation t (9;22) (q34;q11). This translocation interrupts from the normal BCR genes on chromosomes 22 and 9 respectively giving rise to a chimeric BCR-ABL gene encoding a fusion protein. The majority of CML patients have breakpoints, b2a2 or b3a2, that give rise to transcripts for a 210 KDA protein. Approximately 70% of the PH positive ALL patients have a smaller 190 KDA product formed by an e1a2 breakpoint. The remaining 30% have a product that is indistinguishable from the CML product. References: An optimized multiplex PCR for detection of BCR-ABL fusion mRNAs in haematological disorders. N. cross, J. Melo, L.Feng, J.Goldman. Leukemia 1994, 8(1):186-189.
Trey, I do not see anything about FISH, and I know that the BMB/A was not done. Please tell me what tests do I need to have done, is it FISH and BMB? Do you think that they did all the testing that should have been done? Any thoughts or advice is welcomed. Thank you!
ACG
