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.
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