Summer & Zometa

Summer is here!

My plans for this summer are to....

 

Work on my fitness ;)

Read

 

Beach

 

 

 

 

In addition, I have my 6 month follow up for the Natural History Study of MGUS & SMM in August and my 3 month labs and appointment with Dr. R in July. I received my MD note from my last appointment in April. Some of the statements are a little unsettling... I guess I knew all of the information written but it's hard to see in black and white. A few quotes:

 

"Elizabeth is clinically stable and doing well overall. It should be noted that she has been fully evaluated by my colleagues in Endocrinology and she does not have any other explanation for her osteopenia. This, therefore, raises the possibility of early myeloma-related bone disease. At this juncture, bisphosphonate therapy has not been recommended by her endocrine consult team because of the risk to any potential pregnancy that she is planning. At this juncture, therefore, Elizabeth is not keen to proceed with bisphosphonate therapy."

 

"Elizabeth otherwise continues to do relatively well and in this context, I have recommended she continue with her regimen of simple analgesics for antipyretic effects. In this regard, aspirin may be an excellent choice. This may have the additional advantage of being useful as an anti-inflammatory and thus has some clinical benefit for her. In this context, we have recommended two to three tablets a day provided GI tolerance permits.

Otherwise, we will follow a policy of careful observation. In terms of her bone disease, this will require simply careful observation at this stage given her reluctance to in any way consider bisphosphonate at this point in time."

 

"It should be noted that she will continue on vitamin D and other supplements as needed. Elizabeth will return to see me again in the next several months. We will continue to monitor her course very carefully and she knows to call should she have outstanding issues or concerns".

 

 

 

 

Sort of feel blindsided by this note because I thought everyone was in agreement that I would not start zometa at this time. This makes it sound like I'm refusing to start, which makes me uneasy. Definitely need to inquire a bit more about this in July.



FISH Abnormalities

I've had all these blog posts in my drafts for quite a while and I am finally getting around to finishing them! Thrilling, right? It's amazing what I get accomplished when I am avoiding the things I actually need to do... (read: grading, report cards, etc. etc.)

Fluorescence in situ hybridization (FISH) is a type of chromosome analysis that detects abnormalities of specific chromosomes. I have abnormal -13, t(11;14), and 14q32(IGH sep).

Weird FISH.

My reports:

December 2012:

+11 (CCNA-XTx3) normal
13q- normal
-13 abnormal
17p- normal
-17 normal
t(11;14) abnormal
14q32(IGH sep) abnormal
-14(3'/5'IGHx3: normal

Interpretation:
The result is abnormal and indicates a plasma cell clone with monosomy 13 and CCND1/IGH fusion, t(11;14). Insufficient plasma cells were observed with probes for chromosomes 3, 7, 9, and 15. This result indicates persistence or relapse of this patient's plasma cell clone.



July 2012:

+9 normal
+15 normal
+11 (CCNA-XTx3) normal
13q- normal
-13 abnormal
17p- normal
-17 normal
t(11;14) abnormal
14q32(IGH sep) abnormal
-14(3'/5'IGHx3: normal

Interpretation:
The result is abnormal and indicates plasma cell clone with monosomy 13 and CCND1/IGH fusion, t(11;14). At diagnosis, the combination of -13 and t(11;14) has uncertain prognostic significance in multiple myeloma. The prognostic significance for these abnormalities in MGUS, amyloidosis, or smoldering multiple myeloma is unknown (Fonseca et al., Blood 202: 4569-4575, 2003).



From what I understand and have been told, monosomy 13 and t(11,14) are both common abnormalities and are seen within MGUS, SMM, and MM patients. Also, t(11, 14) "may" be a more "favorable" risk factor. And monosomy 13 is not quite as terrible as doctors once thought. So, good news right? Dr. R said that for me they wouldn't have much prognostic significance as they would sort of cancel each other out... one more favorable, one a little less ideal. At the NCI/NIH Dr. L said that they "are just letters and numbers, we don't entirely know what they mean..." and basically, not to worry too much. I posted my results and this is one very helpful response:



Monosomy 13 (loss of 1 of the 2 copies of chromosome 13) in the absence of other high risk markers is not considered high risk in this day and age. It would be considered an intermediate risk factor. It should be noted that 40 - 50% of patients will have a 13q deletion (only a portion of 1 copy of chromosome 13 missing) or monosomy 13 and 40 - 50% of patients do not have high risk disease! You also have chromosomes 11 and 14 fused together. This is also a more common cytogenetic abnormality and is considered a better risk marker.

The statement, "This result indicates persistence or relapse of this patient's plasma cell clone", means that they were able to detect myeloma chromosome abnormalities in both of the bone marrow samples, suggesting that there were still myeloma cells left around in Dec 2012. If there were no myeloma cells left, the chromosome abnormalities would not have been detected. The blood and urine tests and numbers of myeloma cells on the 2 biopsies will give you a better sense of how things have changed in that period of time.



Chromosomal Abnormalities May Identify Smoldering Myeloma Patients At Higher Risk of Progression

According to the study the (11,14) translocation would put me into the "standard risk" group. This group had a median progression time of 4.6 years, a median survival time from SMM diagnosis of 12.3 years, and an overall survival time from MM diagnosis of 7.2 years.

YIKES.

That, of course, is not going to happen because I am not a statistic.



And lots of other information... lots of it is outdated.

MMRF: Genetic Abnormalities in Multiple Myeloma

14q32 Translocations and Monosomy 13 Observed in Monoclonal Gammopathy of Undetermined Significance



Choosing to ignore this study, plus it's super old:

Monosomy 13 is associated with the transition of monoclonal gammopathy of undetermined significance to multiple myeloma.

Bulging Bicep - confirmed?

Back in February I was at the the National Institute of Health / National Cancer Institute in Bethesda, MD for the Natural History Study of MGUS and SMM. While there, I had blood and urine tests, a bone marrow biopsy, as well as a skeletal survey. The skeletal survey showed a possible abnormality on my left humerus that the myeloma team believe could be a lytic lesion. I joked with them, "Are you sure it's not my bulging bicep?" They concurred it was not. They wanted to investigate this abnormality further and I ended up having a CT scan of my humerus the next day.


In case you missed it.... I wrote about this experience here: Abnormal Skeletal Survey & Perfect Blood Work: NIH Day One and here: Bone Marrow Biopsy & CT Scan: NIH Day Two and here: Alliteration fan? Left (Humeral) Linear Lucent Lesion  and here: Little Line = Left Linear (Humeral) Lucent Lesion



The CT scan revealed a "lucent lesion" on my humerus. The doctors at NIH said that it was probably a natural variant or groove within the bone, however I should have it compared to my PET/CTs from 2009 and 2012 from Dana-Farber to be sure, and to watch the area over time. More watching and watiting...awesome. When I saw Dr. R in April, I gave him the discs of my skeletal survey from 2009 (done when I was first diagnosed from a general hem/onc) as well as from the NIH, and the CT scan so he could compare them to the scans I'd had in Boston.

Turns out.... according to Dr. R and the radiologist at DFCI who reviewed all the skeletal surveys, PET/CTs, and the CT scan, apart from my osteopenia, this questionable "lucent lesion" identified at the NIH is in fact the insertion of the deltoid and normal.

Well, well, well... whaaaaaaaat?

Blows my mind. Who is right here?

So, apparently, this abnormality WAS in fact due to my bulging bicep...er, bulging deltoid? ;) Sweet.