33 replies to this topic

[cwad20]

I am a 30 year old male, who was diagnosed 2 months ago with CML in accelerated phase. They discovered the presence of Philadelphia chromosome, as well as inversion of chromosome 3 & 17. I have been on oral chemo since diagnosis to which wbc etc has responded well to and are back to normal. I was being told we are going to do a bone marrow transplant to which my brother is a match for.

Yesterday I met with stem cell team and was told that the transplant may not be as affective as originally told due to the inversion 3 chromosome abnormality. She said she was only able to find 2 people with my same case both of you which died without going thru transplant. If doing the transplant she said she would give it a 50/50 shot of success.

Upon doing research online I have yet to find any data giving success of treating a patient with inversion of chromosome 3, transplant or not.

Has anyone had or know anyone who had a similar diagnosis of chromosome 3? And was there any success or what was the treatment and result?

Any info is appreciated, thanks

[Trey]

No one can tell whether you would respond to drug therapy or not unless you try it.  Our CML TKI drugs (Gleevec, Tasigna, Sprycel, Bosulif, Iclusig) work for many complex CML translocations.  There are several patients in this group who have three-way translocations or other unusual translocations are doing well.  While your Onc may have found a couple case histories of patients who did not do well with 3 and/or 17 involved, they very likely did not have your EXACT translocation at the minute gene level since there are many variables regarding how the chromosomes broke off, and at what exact point they broke.  Very small differences in the translocation can make a huge difference.  It is all about which genes end up next to others -- some are benign and others are bad actors.  So not all complex translocations involving the same chromosomes have the same manifestations and effects. 

 

You were diagnosed in accelerated phase.  There are also variations in what Oncs call accelerated, so that should be explored further.

 

Unusual situations like yours requires the best possible Oncologist to properly advise you.  If it were me, I would go see Dr Talpaz at the University of Michigan.  If you email or call him he will respond (but have a copy of your BMB report first so you can answer questions):

http://www.uofmhealt...ender=All&city=

 

A couple questions/requests for info:

1) Please provide the exact translocation on your bone marrow biopsy report (get a copy if you don't have one), which should look something like T(9;3;17;22)(q12q14q18q22) (that is only a fictional example)

 

2) What caused the diagnosis to be accelerated phase?

 

3) What is the HLA matching from your brother (e.g., 10/10 ?)

 

You may want to look at this:

http://community.lls...t +introduction

[CallMeLucky]

As Trey points out this is a case where you really need to make sure your onc knows what they are talking about and even then get a second opinion. If you are not at a major cancer center with one of the top cml doctors you need to see one before making a decision.

Drucker - OR
Mauro - NY
Talpas - MI
Shah - CA
Cortes - TX

If I was in your position I would find a way to consult with one of these doctors.
Best of luck

[cwad20]

Thank you both for the info, I've been stressing like crazy over the thought of having to leave my children and the recent news. So it feels good to at least be told there may still be hope.

I do not have the exact translocation on my biopsy report, just left a message requesting it. As far as the HLA on my brother, but they told us he was a perfect match, so would assume 10/10. I had three other brothers and they said he was best /perfect match.

The said the reason the we're classifying it as accelerated was because of the presence of these other two chromosome abnormalities inversion 3 & 17.

I'm being treated at university of Iowa hospital, by dr. Roy. She has seemed very good, however was thrown off yesterday because up until meeting with the stem cell dr. Yesterday, we were previously being told things were going good and I was responding well to the sprycel. Then I meet with stem cell dr. Yesterday and we're told the presence of the inversion of chromosome 3 is deadly, and without transplant was told I'd have less than a year, with a transplant I was told I'd have a 50/50 shot of it being successful. She said they can tell me more in two weeks when they do another biopsy. At that time if the blast cells have gone down and chromosome abnormalities decreased, that they can do the transplant, otherwise in current state cannot.

I will get the translocation report and hla ASAP and respond.

Thank you very much for helping with your expertise / experience.

I will also look into doctor talpaz.

[Trey]

It is well to understand that transplant doctors think doing transplants (BMT) is a good idea, otherwise they would not do them.  So they are more likely to offer it as a solution than a regular Onc.  The transplant Onc telling you such percentages and assessing your risks so high is, in my opinion, beyond the knowledge available.  Such predictions in view of the success of TKI drugs treating complex translocations is not warranted.  The transplant Onc simply does not have that level of data available, since there is no way to know. 

 

You are doing well on Sprycel so far, and that is a good sign.  So that is a good start.  It is true that sometimes early successes reverse themselves, but you won't know until/unless it happens.  Planning for a possible transplant is not a bad idea at this point.  But making a final decision may not be such a good idea at this point.  But since no one knows, I also do not know.  In the end the decision will be based on imperfect information. 

 

For those of us with CML the BMT is a legitimate treatment option but usually as a last resort.  They are sometimes necessary for CML (about 1%), so the key is figuring out if it is indeed necessary. 

 

The accelerated phase diagnosis based on having a complex translocation alone does not line up with generally accepted guidelines.  But the Onc could legitimately say the prognosis is less certain for you.

 

A 10/10 sibling match would not be so risky except for the period when your immunity is about zero just before and after the infusion of donor blood stem cells.  A 10/10 HLA sibling match is less likely to fail initially, but somewhat more likely to result in relapse of the leukemia. 

 

There are generally 3 risks involved in a transplant: 1) infection while the immune system is at "zero state", 2) transplant failure to engraft (rejection of the donor transplant cells by the body, or other failure of cells to engraft), 3) transplant initial success followed by relapse (caused by failure to kill off the leukemic blood system). 

 

Any additional information will help us provide better inputs.  Overall I would say you may have been given an overly negative assessment by the BMT Onc, but I don't have all the data he has.  He could eventually be proven right, but CML genetics is not completely understood, so he may not have enough information to issue such a negative assessment at this time.

Edited by Trey, 02 February 2015 - 02:00 PM.

[CallMeLucky]

From what I have seen, you don't want a transplant Dr advising you if you need a transplant. You want a transplant Dr after the decision has been made. You need an oncologist with deep expertise of cml and TKI drugs.
Best of luck.

[cwad20]

Still have not heard back on the biopsy numbers or hla numbers. But one thing that has us confused after meeting with the stem cell doctor yesterday is she told us the presence and inversion of chromosome 3 & 17 is bad.

However, those are not the chromosome numbers we were given by our oncologist when the did the original biopsy back at end of november. She had told us I had the Philadelphia chromosome, and a 17q and p53 chromosome. So not sure why the onc didn't mention a chromosome 3 like the stem cell doctor.

[Lucas]

I don't know about the chromosome 3, but i know a guy who had the inversion of 17 and a double PH chromosome and is doing good on sprycel for 3 years. good luck!!

[Trey]

This is why using exact BMB report information is important to understand what is going on.  You absolutely need to get a copy of the report.  Otherwise you are trying to recall something that sounds like another language -- not easy to do.

 

17q is an isochromosome (not a translocation like the Philadelphia Chromosome) and p53 is a gene which produces signals related to cell function.  The exact BMB language is needed to understand if this is what the Onc was describing, and if so how it relates to your diagnosis.

 

By the way, if you do any self-research on these chromosome/genetic mutations (not recommended without precise BMB report information), be sure to look at information related only to blood.  The various tissues/cells have different genetics.  Your blood cells are the only ones with these mutations.

[cwad20]

Indications: LEUKOCYTOSIS

Cytogenetic Interpretations:
46,XY,t(9;22)(q34;q11.2)[4]/46,sl,inv(3)(q21q26.2)[6]/46,sdl1,t(1
;12)(q21;q13)[5]/46,sdl1,
i(17)(q10)[5]


Cells from unstimulated 24-hour cultures from a bone marrow
aspirate were arrested at metaphase with colcemid. Chromosomes
were stained by the G-banding method. The chromosome number was
determined by microscopic analysis and these cells were examined
for the presence or absence of detectable structural
rearrangements. Karyotypes were prepared from computer assisted
digital images of these metaphases.

Twenty cells were analyzed and four cell lines were detected.
Four (4/20=20%) cells (clone 1) had a modal number of 46
chromosomes, including the X and Y chromosomes. These cells
contained a balanced rearrangement between the long arm of
chromosome 9 and the long arm of chromosome 22
[t(9;22)(q34;q11.2)]. Six (6/20=30%) cells (clone 2) had a modal
number of 46 chromosomes, including the X and Y chromosomes.
These cells contain the abnormality in clone 1 and an inversion
in the long arm of chromosome 3 [inv(3)(q21q26.2)]. Five
(5/20=25%) cells (clone 3) had a modal number of 46 chromosomes,
including the X and Y chromosomes. These cells contain the
abnormalities seen in clone 2 and a balanced rearrangement
between the long arm of chromosome 1 and the long arm of
chromosome 12 [t(1;12)(q21;q13)]. Five (5/20=25%) cells (clone 4)
had a modal number of 46 chromosomes, including the X and Y
chromosomes. These cells contained the abnormalities seen in
clone 2 and an isochromosome of the long arm of 17 [i(17)(q10)].

Philadelphia (Ph) chromosome; the t(9;22) translocation is
usually considered diagnostic for CML, but also occurs in a
subset of ALL or AML cases. At the molecular level, this
structural rearrangement is associated with a BCR/ABL1 fusion
gene rearrangement encoding a unique leukemia-specific protein.
In the blast crisis phase of CML, approximately 80% of
individuals develop additional chromosome abnormalities. Tests
available for monitoring this translocation include: 1)
Cytogenetic analysis, 2) BCR/ABL1 molecular testing and 3)
interphase FISH analysis. Note that FISH and molecular tests do
not detect additional cytogenetic changes signaling disease
progression or development of a secondary malignancy. Ref.: WHO
Classification of Tumors of Hematopoietic and Lymphoid
Tissues.4th Edition, 2008

Monosomy for 17p or abnormalities of band 17p13 are associated
with dysgranulopoiesis and a high incidence of p53 mutations in
therapy-related MDS and AML. In general, these patients have a
poor response to chemotherapy and short median survival times
(Merlat, A. et al., Leukemia, 13:250-257, 1999).

The inv(3)(q21q26) is seen in acute non-lymphocytic leukemia
(ANLL), often preceded by myelodysplastic syndrome (MDS). This
abnormality may occur as an additional anomaly in CML with
t(9;22), often at the time of clast crisis. It occurs alone or
with -7 in 30% of cases of each. The inversion affects the EVI1
gene at 3q26 and the RPN1 (ribophorin 1) gene at 3q21

FISH studies were performed using the EV1, BCR/ABL and p53 probes
and the results were abnormal (see Molecular Cytogenetics Report
of C67995 drawn 11/25/14).

NOTE: The final results are consistent with the preliminary
results.

[cwad20]

This is the report I was given. Again their telling me the inversion of chromosome 3 is very bad, and said I won't have much of a chance without a transplant and even then only a 50/50 chance. And would likely relapse even if successful.

[Lucas]

Hi, CDWAD20, i can tell much, but, from what i read, you have only 4 cells with the PH chromosome (9,22) and the other cells have another type of chromosome's aberrations. It's atypical to not have a PH chromosome in every cell in cml. maybe you don't have cml (i think if it were a clonal evolution you'll have the ph chromosome and others abnormalities in every cell), but another type of leukemia o MDS. hope trey can give you a good answer. good luck.

[Trey]

You have four different leukemic karyotypes of white blood cells (WBCs).  All of them have the Philadelphia Chromosome as shown by the t(9;22) in each of the four karyotypes, so 100% are leukemic which is not unusual at diagnosis.  But the multiple karyotypes is certainly unusual.

 

Your four karyotypes are:

 

46,XY,t(9;22)(q34;q11.2)[4]

46,XY,t(9;22)(q34;q11.2),sl,inv(3)(q21q26.2)[6]

46,XY,t(9;22)(q34;q11.2),sl,inv(3)(q21q26.2),sdl1,t(1;12)(q21;q13)[5]

46,XY,t(9;22)(q34;q11.2),sl,inv(3)(q21q26.2),sl,i(17)(q10)[5]

 

The number at the end of each line inside a [ ] is the number of WBCs out of the 20 examined which have this karyotype.  You can divide each by 20 and infer that these percentages apply to the remainder of your WBCs.  So you have approximately 20%, 30%, 25%, 25% of these four karyotypes which make up your entire white blood cell population.

 

The normal human male karyotype (a male without leukemia) is 46,XY which means the person has 46 chromosomes (2 sets of 23) including an X and a Y.  Females are XX with no Y.  So a normal female is 46,XX.

 

Your 4 karyotypes mean:

 

46,XY,t(9;22)(q34;q11.2) is the "normal" CML karyotype.  Most of us with CML have this, and only this, at diagnosis.  A small number have slight variations. 

 

46,XY,t(9;22)(q34;q11.2),sl,inv(3)(q21q26.2) -- your second "clone" is CML plus Inversion on chromosome 3.  An Inversion means that a piece of chromosome 3 broke off during cell division and reattached itself upside down (inverted).  So these WBCs have a secondary mutation on chromosome 3 in addition to the regular t(9;22)(q34;q11.2) Philadelphia Chromosome. 

ghr.nlm.nih.gov/handbook/illustrations/inversion

 

46,XY,t(9;22)(q34;q11.2),sl,inv(3)(q21q26.2),sdl1,t(1;12)(q21;q13) -- your third "clone" is CML plus Inversion on chromosome 3 plus a reciprocal translocation between chromosomes 1 and 12.  A reciprocal translocation means that portions of chromosomes 1 and 12 broke off at the same time during cell division and the piece that belonged on 1 reattached by mistake to the broken end of 12, and the broken piece of 12 went to 1 and attached.  So you end up with chromosomes which are portions of 1 and portions of 12.  The Philadelphia Chromosome is also a reciprocal translocation, whereby chromosomes 9 and 22 swap pieces. 

 

46,XY,t(9;22)(q34;q11.2),sl,inv(3)(q21q26.2),sl,i(17)(q10) -- your fourth "clone" is CML plus Inversion on chromosome 3 plus an i17q.  An i17q is another form of chromosomes breaking and putting themselves back together incorrectly. 

 

So what do we learn here?  First, white blood cells should not be given DNA self-repair kits -- they suck at it and often put themselves back together incorrectly.  Beyond that, your situation has a number of unknowns and risks.  No one can tell you how you will respond to CML TKI drugs.  But your condition is certainly in the higher risk category.  Maybe you can respond well (or well enough) to stay on the drugs.  We have 5 types of TKI drugs now, and more being developed.  But maybe the drugs will not work over the long term.  So some possible scenarios are:

1) You have responded to Sprycel for two months and maybe you will continue to respond well (well enough) over the long term

2) Sprycel may stop working, and you may need either a different drug, or a transplant

3) You could go straight to transplant

 

Seeing how the drugs will work is one option.  A problem with this approach is that if the TKI drugs stop working, and simultaneously your situation deteriorates quickly, you would not be in as healthy a condition overall to withstand the transplant.  That is at the core of the dilemma: wait and see what the drugs do, or go to transplant while overall physically in the best condition.

 

Sorting this out is the task at hand for you.  You definitely need a CML expert.  I personally would choose Dr Talpaz as mentioned above.  No matter how much you like your current Onc and transplant Onc, they are not well equipped to handle your case.  This is the most important point I can make for you.

 

 

A couple other things:

1) Please provide your test results such as FISH and PCR

2) Did you take Hydroxyurea first?  How long?  Any other drugs beside Sprycel? 

3) What was your Basophil (BAS) level at diagnosis and now (from CBC report)?

4) What was your blast count at diagnosis and now?

 

Here is an overview paper on the Genetics of CML:

http://community.lls...=+genetics +cml

Edited by Trey, 02 February 2015 - 01:56 PM.

[cwad20]

FISH RESULTS:

Specimen description:

Bone Marrow
3218
No
New Leukocytosis, diagnostic marrow
UIHC
02: Panel AML (CBFB BAP (16q22), PML/RARA (t(15 ;17)), ETO/AML1 (t(8 ;21)), MLL BAP (11q23), CEP8, EGR1 (5q31), D7S522 (7q31)/CEP7

10: Panel Imatinib Responsive Condition (BCR/ABL (t(9 ;22)), FIP1L1/CHIC2/PDGFRA BAP (4q12), PDGFRB BAP(5q33))

Component Results
Component
CYTOGENETICS REPORT

Result Narrative
Physician: Dr. Rupali Roy
Cytogenetics Lab No.: C67995
Specimen No.: 102159
FISH Performed on: BONE MARROW
Date Collected: 11/25/2014
Date Requested: 11/25/2014
Date Received in Lab: 11/25/2014
Date of Final Report: 12/2/2014
Technologist(s): QQ

INDICATIONS: LEUKOCYTOSIS

METHOD:
Fluorescence in situ hybridization (FISH) studies were performed
on nuclear using the DNA probes EVI [3q26],
BCR/ABL [22q11.2/9q34] and p53 [17p13.1].


RESULT/INTERPRETATION: ABNORMAL FISH RESULTS

FISH studies were performed using the EVI [3q26], BCR/ABL
[t(9;22)(q34;q11.2)] and p53 [17p13.1] probes. A total of 300
nuclei were analyzed for each probe set. The abnormalities
detected are as follows: 1) the EVI probe had a rearrangement
pattern in 45% of the nuclei; 2) the BCR/ABL showed a typical
dual fusion pattern in 97.3% of the nuclei; 3) the p53 probe had
a deletion signal pattern in 12.3% of the nuclei.

These probe sets could be used as FISH markers to monitor disease
progression in future follow up specimens.

NOTE: Preliminary cytogenetic results based on ten cells were
abnormal. Final results are pending.

NOMENCLATURE: nuc ish(EVIx2)(proximal EVI sep distal
EVIx1)[135/300]/(EVIx2)[165/300],(ABL,BCR)x3(ABL con BCRx2)[292/
300]/(ABL,BCR)x2[8/300],(p53x1)[37/300]/(p53x2)[263/300]

[cwad20]

I'm not sure if this is the PCR you were asking for, I cannot find any test showing PCR on my chart online. But found this BCR result which states PCR in it.

BCR/ABL1 (T(9;22)) QUANTITATIVE WITH INTERPRETATION, BONE MARROW
Results
Status:Final result
12/3/2014 2:53 PM


Component Results
Component Value Range & Units Status
BCR-ABL Copies 1270000 Final
ABL Copies 778199 Final
BCR-ABL/ABL (Raw%) 163.1973 % Final
IS% BCR-ABL/ABL Ratio 62.0150 % Final
BCR-ABL Breakpoint MAJe14a2 Final
Report Final
MMR: NO

The ABL copy number indicates that the quality of the RNA was adequate to accurately report this result.

BREAKPOINT ANALYSIS RESULT:
A 166 base pair RT-qPCR product is detected by capillary electrophoresis consistent with the presence of the b3a2 (e14a2; p210) BCR-ABL fusion transcript.

I have reviewed the results and edited the report as necessary to reflect my interpretation.
Anthony N. Snow, MD

=======================================================
Specimen: bone marrow aspirate
Date Received: 11/25/2014
MP#: 14-2607
_______________________________________________________
BACKGROUND:
The presence of the Philadelphia chromosome (Ph+), t(9;22)(q34;q11) translocation that fuses the ABL1 and BCR genes, is the hallmark of chronic myelogenous leukemia (CML). This gain-of-function translocation is present in greater than 95% of CML, 20-40% of adult acute lymphoblastic leukemia (ALL) and a subset of pediatric ALL. Reverse transcription quantitative polymerase chain reaction (RT-qPCR) assessment for the BCR-ABL RNA transcript has become the standard for monitoring CML patients undergoing tyrosine kinase inhibitor therapy and Ph+ ALL. A major molecular response (MMR) is equivalent to a 3-log reduction from a standardized baseline value as determined from the International Randomized Interferon versus STI571 (IRIS) study or 0.1% per International Scale (IS). A correction factor of 0.38 is applied to all BCR-ABL/ABL1 ratios to obtain the International Scale percent value (IS %BCR-ABL/ABL1 RATIO). Major Molecular Response (MMR) is reported when a patient shows an IS %BCR-ABL/ABL1 value less than or equal to 0.1% IS.

METHOD:
The BCR-ABL RNA Quantitation assay (Asuragen, Inc. Austin, TX) uses multiplexed reverse transcription in combination with real-time PCR to amplify the major and minor BCR/ABL1 translocations giving rise to the p210 and p190 fusion products: b2a2 (e13a2; p210), b3a2 (e14a2; p210) and e1a2 (p190). The specific breakpoint of the BCR-ABL1 fusion transcript is determined by capillary electrophoresis of the fluorescent PCR products. The assay is normalized to the ABL1 internal control and calibrated for reporting to the International Scale (correction factor = 0.38). The assay can reliably detect 1 tumor cell in a background of 15,000 normal cells, or approximately 30 BCR-ABL copies per mL, representing approximately 0.01% IS.

REFERENCES:

Hughes T et al. Monitoring CML patients responding to treatment with tyrosine kinase inhibitors: review and recommendations for harmonizing current methodology for detecting BCR-ABL transcripts and kinase domain mutations and for expressing results. Blood 2006, 108:28-37.

Branford S et al. Desirable performance characteristics for BCR-ABL measurement on an international reporting scale to allow consistent insertion of individual patient response and comparison of response rates between clinical trials. Blood 2008, 112:3330-38.

White HE et al. Establishment of the first World Health Organization International Genetic Reference Panel for quantitation of BCR-ABL mRNA. Blood 2010, 116:e111-117

The performance characteristics of this test were determined by the University of Iowa Diagnostics Laboratory. It has not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. This test is for clinical purposes. It should not be regarded as investigational or for research. The laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform high complexity clinical laboratory testing.

[cwad20]

The only medication they have put me on so far was allopurinol for two weeks after diagnosis, no longer on it. And I have been on sprycell since November 26th. Was diagnosed on November 24th. I have not been on anything else.

I'm trying to find my first cbc report, it's not online for some reason, so am requesting it. I'm also in process of contacting dr. Talpaz, no reply yet.

This was my latest cbc report taken friday. I know when I first was diagnosed on 11/24/14 my wbc was 75.

[cwad20]

WBC Count 6.5 3.7-10.5 K/MM3 Final
RBC Count 4.55 4.50-6.20 M/MM3 Final
Hemoglobin 12.8 (L) 13.2-17.7 g/dL Final
Hematocrit 39 (L) 40-52 % Final
MCV (Mean Corpusvular Volume) 86 82-99 FL Final
MCH (Mean Corpuscular Hemoglobin) 28 25-35 PG Final
MCHC (Mean Corpuscular Hemoglobin Concentration) 33 32-36 % Final
Platelet Count 205 150-400 K/MM3 Final
MPV (Mean Platelet Volume) 9.1 (L) 9.4-12.3 FL Final
RBC Dist Width-STD 44.2 (H) 35.1-43.9 FL Final
RBC Distrib Width 14.2 9.0-14.5 % Final
Nucleated RBC 0 /100 WBC Final

[Trey]

Your FISH results show that several different types of FISH were performed.  The FISH results are:

1) "the EVI probe had a rearrangement pattern in 45% of the nuclei"  -- this is the Inversion of Chromosome 3

2) "the BCR/ABL showed a typical dual fusion pattern in 97.3% of the nuclei" -- this is the CML Philadelphia Chromosome

3) "the p53 probe had a deletion signal pattern in 12.3% of the nuclei" -- this is the p53 deletion issue

 

So the FISH shows you have CML, Inversion on chromosome 3, and p53 deletion.  It did not test for the chromosomes 1;12 translocation (these tests only look for what they are told to look for).

 

Your PCR ("BCR/ABL1 (T(9;22)) QUANTITATIVE") result is: 62.0150 % International Scale (IS)

 

Your CBC blood counts show a normalized blood count in all areas shown (there would be others you did not list).  Would like to see a complete CBC from diagnosis and now.

 

These various test results show that at diagnosis you had what the BMB report showed (the four karyotypes discussed above) plus the FISH also added that you have the p53 deletion issue.  The BMB cannot see the p53 issue.

 

Since you have only taken Sprycel from the beginning, the results so far are encouraging based on how your blood counts normalized.  But FISH and PCR are more instructive.  If you have had additional FISH and PCR tests please provide the results.  These two tests will show your progress or lack thereof.  Given your complex diagnosis you should be having a FISH and PCR done often, monthly would be a good idea.  And you should be having weekly CBCs.  You also want another BMB done at no more than 3 months post diagnosis -- personally I would ask for one now.  It is critical to monitor your status very closely -- closer than anyone else.  So the "regular" testing intervals for you should be greatly compressed.  Another BMB would show if the marrow is normalizing, and possibly some of the mutations could be reduced or eliminated over time (be patient -- it takes time).

 

So next steps:  1) See a CML expert, 2) have FISH and PCR repeated monthly, 3) have another BMB done, 4) provide full CBC info here (you should be having weekly CBCs)

 

So to summarize your entire diagnostic test results in one location (for talking to Doctors or whomever):

 

Overview:  Philadelphia Chromosome, t(1;12) translocation, Inversion chromosome 3, isochrome i17q, and p53 deletion.

 

Specifics:

46,XY,t(9;22)(q34;q11.2)[4]                                                                         20% of cells

46,XY,t(9;22)(q34;q11.2),sl,inv(3)(q21q26.2)[6]                                         30% of cells

46,XY,t(9;22)(q34;q11.2),sl,inv(3)(q21q26.2),sdl1,t(1;12)(q21;q13)[5]      25% of cells

46,XY,t(9;22)(q34;q11.2),sl,inv(3)(q21q26.2),sl,i(17)(q10)[5]                     25% of cells

p53 deletion                                                                                                12.3% of cells

 

FISH 97%

PCR 62% (IS)

Breakpoint:  b3a2 (e14a2)

Edited by Trey, 02 February 2015 - 03:06 PM.

[Lucas]

sorry, trey, i read the karyotipe in the wrong way. did not saw the ph chromosome on the others cells

[cwad20]

Trey, I still don't have cbc from diagnosis, for some reason it's not online, as mentioned wbc was 75 at dx. Trying to get report, but here are some that show current progression. Also, I spoke with dr. Talpaz office and was told my onc use to work with him at u of mich and that they are familiar with my onc. So I contacted my onc about my desire to have him involved and she said she would get in touch with him to review my case and get his thoughts. She still wants to wait until Feb 12th to do the next BMB as she feels it's too early to see longer term results on the sprycel. However, they do not feel the sprycel will have had any impact on the chromosome issues other than the PH, which is why they are still moving toward transplant, pending new BMB results. What concerns me on all of this is when we met with the stem cell dr. We were told we basically have no chance without a transplant and even with are "just buying time". It worries me if my chromosome abnormalities are really that complex and confusing. I guess hopefully that is something dr. Talpaz will weigh in on.

12/4/14
WBC Count 40.0 (H) 3.7-10.5 K/MM3 Final
RBC Count 3.99 (L) 4.50-6.20 M/MM3 Final
Hemoglobin 11.3 (L) 13.2-17.7 g/dL Final
Hematocrit 35 (L) 40-52 % Final
MCV (Mean Corpusvular Volume) 88 82-99 FL Final
MCH (Mean Corpuscular Hemoglobin) 28 25-35 PG Final
MCHC (Mean Corpuscular Hemoglobin Concentration) 32 32-36 % Final
Platelet Count 168 150-400 K/MM3 Final
MPV (Mean Platelet Volume) 10.3 9.4-12.3 FL Final
RBC Dist Width-STD 55.6 (H) 35.1-43.9 FL Final
RBC Distrib Width 17.6 (H) 9.0-14.5 % Final
Nucleated RBC 1 /100 WBC Final


12/11/14
WBC Count 11.5 (H) 3.7-10.5 K/MM3 Final
RBC Count 3.49 (L) 4.50-6.20 M/MM3 Final
Hemoglobin 9.8 (L) 13.2-17.7 g/dL Final
Hematocrit 31 (L) 40-52 % Final
MCV (Mean Corpusvular Volume) 88 82-99 FL Final
MCH (Mean Corpuscular Hemoglobin) 28 25-35 PG Final
MCHC (Mean Corpuscular Hemoglobin Concentration) 32 32-36 % Final
Platelet Count 165 150-400 K/MM3 Final
MPV (Mean Platelet Volume) 9.4 9.4-12.3 FL Final
RBC Dist Width-STD 54.1 (H) 35.1-43.9 FL Final
RBC Distrib Width 17.8 (H) 9.0-14.5 % Final


12/18/14
WBC Count 7.3 3.7-10.5 K/MM3 Final
RBC Count 3.54 (L) 4.50-6.20 M/MM3 Final
Hemoglobin 10.1 (L) 13.2-17.7 g/dL Final
Hematocrit 31 (L) 40-52 % Final
MCV (Mean Corpusvular Volume) 88 82-99 FL Final
MCH (Mean Corpuscular Hemoglobin) 29 25-35 PG Final
MCHC (Mean Corpuscular Hemoglobin Concentration) 32 32-36 % Final
Platelet Count 107 (L) 150-400 K/MM3 Final
MPV (Mean Platelet Volume) 8.9 (L) 9.4-12.3 FL Final
RBC Dist Width-STD 58.1 (H) 35.1-43.9 FL Final
RBC Distrib Width 18.7 (H) 9.0-14.5 % Final
Nucleated RBC 0 /100 WBC Final


12/26/14
WBC Count 3.8 3.7-10.5 K/MM3 Final
RBC Count 3.46 (L) 4.50-6.20 M/MM3 Final
Hemoglobin 10.0 (L) 13.2-17.7 g/dL Final
Hematocrit 31 (L) 40-52 % Final
MCV (Mean Corpusvular Volume) 91 82-99 FL Final
MCH (Mean Corpuscular Hemoglobin) 29 25-35 PG Final
MCHC (Mean Corpuscular Hemoglobin Concentration) 32 32-36 % Final
Platelet Count 194 150-400 K/MM3 Final
MPV (Mean Platelet Volume) 8.6 (L) 9.4-12.3 FL Final
RBC Dist Width-STD 62.0 (H) 35.1-43.9 FL Final
RBC Distrib Width 19.6 (H) 9.0-14.5 % Final



1/9/15
WBC Count 4.6 3.7-10.5 K/MM3 Final
RBC Count 4.41 (L) 4.50-6.20 M/MM3 Final
Hemoglobin 12.7 (L) 13.2-17.7 g/dL Final
Hematocrit 39 (L) 40-52 % Final
MCV (Mean Corpusvular Volume) 89 82-99 FL Final
MCH (Mean Corpuscular Hemoglobin) 29 25-35 PG Final
MCHC (Mean Corpuscular Hemoglobin Concentration) 33 32-36 % Final
Platelet Count 161 150-400 K/MM3 Final
MPV (Mean Platelet Volume) 8.8 (L) 9.4-12.3 FL Final
RBC Dist Width-STD 51.4 (H) 35.1-43.9 FL Final
RBC Distrib Width 16.2 (H) 9.0-14.5 % Final



1/15/15
WBC Count 5.0 3.7-10.5 K/MM3 Final
RBC Count 4.49 (L) 4.50-6.20 M/MM3 Final
Hemoglobin 13.1 (L) 13.2-17.7 g/dL Final
Hematocrit 39 (L) 40-52 % Final
MCV (Mean Corpusvular Volume) 87 82-99 FL Final
MCH (Mean Corpuscular Hemoglobin) 29 25-35 PG Final
MCHC (Mean Corpuscular Hemoglobin Concentration) 34 32-36 % Final
Platelet Count 167 150-400 K/MM3 Final
MPV (Mean Platelet Volume) 9.1 (L) 9.4-12.3 FL Final
RBC Dist Width-STD 48.4 (H) 35.1-43.9 FL Final
RBC Distrib Width 15.1 (H) 9.0-14.5 % Final
Nucleated RBC 0 /100 WBC Final


1/30/15
WBC Count 6.5 3.7-10.5 K/MM3 Final
RBC Count 4.55 4.50-6.20 M/MM3 Final
Hemoglobin 12.8 (L) 13.2-17.7 g/dL Final
Hematocrit 39 (L) 40-52 % Final
MCV (Mean Corpusvular Volume) 86 82-99 FL Final
MCH (Mean Corpuscular Hemoglobin) 28 25-35 PG Final
MCHC (Mean Corpuscular Hemoglobin Concentration) 33 32-36 % Final
Platelet Count 205 150-400 K/MM3 Final
MPV (Mean Platelet Volume) 9.1 (L) 9.4-12.3 FL Final
RBC Dist Width-STD 44.2 (H) 35.1-43.9 FL Final
RBC Distrib Width 14.2 9.0-14.5 % Final
Nucleated RBC 0 /100 WBC Final