My wife has been diagnosed with SMM. She asked me, after reading some articles if she would be considered "Hyperdipoid" or "non-hyperdiploid". I informed her that in my opinion she would fall in the Hyperdiploid category based on the following information from her BMB.
CYTOGENETICS:
Normal karotype with no abnormalities.
FISH:
1) Deletion of chromosome 13q14.3 in 25/200 interphase nuclei. (about 12%)
2) Extra signal for 11q13 (CCND1) of 17/200 nuclei. but no translocation between 11 and 14
3) Trisomy 15 in 8/200 nuclei.
No translocations of the following listed below:
Chromosomes 4 and 14
Chromosomes 14 and 16
No aneuploidy of Chromosomes 5 and 9
No deletion of chromosome 17p13.1
I based my decision on lack of any Translocations involved and the 3 factors listed above.
It seems the above would put her in the "Hyperdiploid" category and from a progression standpoint is preferred over being non-hyperdiploid.
Any comments on this?
Regards:
Billy from the west coast.
Forums
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Re: Hyperdiploid
Hi Billy!
You might find this information useful:
"Smadja et al. (28) were the first to identify the prognostic significance of the hyperdiploid versus the non- hyperdiploid karyotype. The hypodiploid group is associated with poorer overall survival, while the hyperdiploid group does better (28). The hypodiploid classification encompasses clones composed of hypodiploid, pseudodiploid, and/or near- tetraploid variants, which are almost always associated with structural aberrations. The near-tetraploid karyotypes appear to be 4n duplications of cells having pseudodiploid or hypo- diploid karyotypes (28e30). The hyperdiploid group shows a consistent set of trisomies and fewer structural aberrations.
.... the modal chromosome number is usually either hyperdiploid with multiple trisomies or hypodiploid with one of several types of immunoglobulin heavy chain (Ig) translocations. The chromosome ploidy status and Ig rearran- gements are two genetic criteria that are used to help stratify patients into prognostic groups based on the findings of conventional cytogenetics and fluorescence in situ hybridization (FISH). In general, the hypodiploid group with t(4;14)(p16;q32) or t(14;16)(q32;q23) is considered a high- risk group, while the hyperdiploid patients with t(11;14)(q13;q32) are considered a better prognostic group.
The hyperdiploid karyotype is characterized by trisomies of chromosomes 3,5,7,9,11,15,19, and 21, which are observed in 50e60% of patients (4,5,14,18,19). The non- hyperdiploid karyotypes typically have translocations involving the immunoglobulin heavy chain (IGH ) locus at 14q32. The most frequently lost chromosomes are 13,14,16 and 22 (28e30). It should be pointed out that the generalized distinctions between the hyperdiploid and the hypodiploid groups are an oversimplification since the primary IGH translocations are also found in hyperdiploid multiple myeloma at a frequency of approximately 10% (31)."
http://www.signalgenetics.com/publications/The_Prognostic_significance_of_Cytogenetics.pdf
"Karyotypes from multiple myeloma (multiple myeloma) patients are complex but may be categorized either as hyperdiploid, displaying gain of odd chromosomes and some structural changes, or as hypodiploid or pseudodiploid, displaying loss of even chromosomes and frequent structural changes, including IgH rearrangements "
http://clincancerres.aacrjournals.org/content/13/20/6026.full.pdf
You might find this information useful:
"Smadja et al. (28) were the first to identify the prognostic significance of the hyperdiploid versus the non- hyperdiploid karyotype. The hypodiploid group is associated with poorer overall survival, while the hyperdiploid group does better (28). The hypodiploid classification encompasses clones composed of hypodiploid, pseudodiploid, and/or near- tetraploid variants, which are almost always associated with structural aberrations. The near-tetraploid karyotypes appear to be 4n duplications of cells having pseudodiploid or hypo- diploid karyotypes (28e30). The hyperdiploid group shows a consistent set of trisomies and fewer structural aberrations.
.... the modal chromosome number is usually either hyperdiploid with multiple trisomies or hypodiploid with one of several types of immunoglobulin heavy chain (Ig) translocations. The chromosome ploidy status and Ig rearran- gements are two genetic criteria that are used to help stratify patients into prognostic groups based on the findings of conventional cytogenetics and fluorescence in situ hybridization (FISH). In general, the hypodiploid group with t(4;14)(p16;q32) or t(14;16)(q32;q23) is considered a high- risk group, while the hyperdiploid patients with t(11;14)(q13;q32) are considered a better prognostic group.
The hyperdiploid karyotype is characterized by trisomies of chromosomes 3,5,7,9,11,15,19, and 21, which are observed in 50e60% of patients (4,5,14,18,19). The non- hyperdiploid karyotypes typically have translocations involving the immunoglobulin heavy chain (IGH ) locus at 14q32. The most frequently lost chromosomes are 13,14,16 and 22 (28e30). It should be pointed out that the generalized distinctions between the hyperdiploid and the hypodiploid groups are an oversimplification since the primary IGH translocations are also found in hyperdiploid multiple myeloma at a frequency of approximately 10% (31)."
http://www.signalgenetics.com/publications/The_Prognostic_significance_of_Cytogenetics.pdf
"Karyotypes from multiple myeloma (multiple myeloma) patients are complex but may be categorized either as hyperdiploid, displaying gain of odd chromosomes and some structural changes, or as hypodiploid or pseudodiploid, displaying loss of even chromosomes and frequent structural changes, including IgH rearrangements "
http://clincancerres.aacrjournals.org/content/13/20/6026.full.pdf
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suzierose - Name: suzierose
- When were you/they diagnosed?: 2 sept 2011
Re: Hyperdiploid
Greetings from Seattle !
From Chng Cancer Res 2007
It is now recognized that there are two broad genetic subtypes of multiple myeloma as defined by chromosome number: hyperdiploid multiple myeloma (H-MM, 48–74 chromosomes), which is characterized by trisomies of chromosomes 3, 5, 7, 9, 11, 15, 19, and 21 and a lower prevalence of primary translocations involving the immunoglobulin heavy chain (IgH) locus at 14q32, and nonhyperdiploid multiple myeloma (NH-MM; <48 or >75 chromosomes), which is associated with the presence of primary IgH translocations such as t(4;14), t(11;14), and t(14;16).
Your wife does have a trisomy in chromosome 15 but only in a small percentage of cells. I am not sure she meets the criteria for hyperdiploid. In general when a patient meets the criteria it will be stated as so in the pathology report. Generally a specific percentage of cells must be affected by the genetic finding to be clinically important.
I will run this report by our pathologists to see if this is the case and get back with you.
Best of luck in all things
From Chng Cancer Res 2007
It is now recognized that there are two broad genetic subtypes of multiple myeloma as defined by chromosome number: hyperdiploid multiple myeloma (H-MM, 48–74 chromosomes), which is characterized by trisomies of chromosomes 3, 5, 7, 9, 11, 15, 19, and 21 and a lower prevalence of primary translocations involving the immunoglobulin heavy chain (IgH) locus at 14q32, and nonhyperdiploid multiple myeloma (NH-MM; <48 or >75 chromosomes), which is associated with the presence of primary IgH translocations such as t(4;14), t(11;14), and t(14;16).
Your wife does have a trisomy in chromosome 15 but only in a small percentage of cells. I am not sure she meets the criteria for hyperdiploid. In general when a patient meets the criteria it will be stated as so in the pathology report. Generally a specific percentage of cells must be affected by the genetic finding to be clinically important.
I will run this report by our pathologists to see if this is the case and get back with you.
Best of luck in all things
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Dr. Edward Libby - Name: Edward Libby, M.D.
Beacon Medical Advisor
3 posts
• Page 1 of 1