[Beacon Staff]

Weekly Poll - Chromosomal Abnormalities At Diagnosis

by Beacon Staff on Wed Jun 06, 2012 1:23 pm

This week's poll is about chromosomal abnormalities that myeloma patients have at diagnosis.

A few clarifications:

First, this question is only for readers who have symptomatic / active multiple myeloma. That is, not MGUS or smoldering myeloma.

Second, if you have been assessed for chromosomal abnormalities multiple times during the course of your disease (such as before and after treatment), please answer based on the chromosomal abnormalities you had soon after you were diagnosed with myeloma or prior to treatment.

Third, if you are a caregiver or family member of someone who has myeloma, feel free to answer on their behalf.

For your reference, here is an explanation about chromosomal abnormalities:

Each person’s genetic material is stored in chromosomes. Humans normally have two copies of 22 different chromosomes as well as two sex chromosomes (XX for women and XY for men).

Every chromosome has two regions, a short region (p) and a long region (q), and specific positions on the chromosome are numbered.

Therefore, 17p13 would refer to position 13 of the short region of chromosome 17.
There are a number of different types of chromosomal abnormalities. The most common chromosomal abnormalities related to myeloma include:

Deletion – A part of a chromosome is missing. For example: del(17p13) would mean that on chromosome 17, position 13 of the short arm is missing.

Translocation – A portion of one chromosome is transferred to another chromosome, or two chromosomes swap portions. For example, t(4;14) means that chromosomes 4 and 14 have swapped some of their genetic material.

Gain – There is an extra copy of a chromosome or part of a chromosome. For example: +1q21 would mean that this person has an extra copy of position 21 of the long region of chromosome 1.

Monosomy – There is a missing copy of a chromosome: a person has one copy of a chromosome, instead of the regular two

Trisomy – There is an extra copy of a chromosome: a person has three copies of a chromosome, instead of the regular two

As always, feel free to post comments, thoughts, or feedback in the space below. They can be very useful to other readers. For instance, why have you chosen this number of myeloma experts to consult with?

[suzierose]

Re: Weekly Poll - Chromosomal Abnormalities At Diagnosis

by suzierose on Wed Jun 06, 2012 3:09 pm

"Overall survival of patients stratified by the presence or absence of each one of the specific cytogenetic abnormalities showing statistical significance."

http://bloodjournal.hematologylibrary.org/content/101/11/4569/F2.expansion.html

"The survival curves show clear separation of patients into the good, intermediate, and poor prognosis category, a difference that was statistically significant."

http://bloodjournal.hematologylibrary.org/content/101/11/4569/F3.expansion.html

[suzierose]

Re: Weekly Poll - Chromosomal Abnormalities At Diagnosis

by suzierose on Wed Jun 06, 2012 3:27 pm

OPTIMISM!!


"To determine which prognostic indicators can be used to define shorter or longer survival, rather than just “poor outcome” or “better outcome,”


Dr. Avet-Loiseau and his colleagues included the assessment of 1q gains along with t(4:14) translocations and deletions of 17p in this large series.

For their study, Dr. Avet-Loiseau and his associates analyzed stored bone marrow and plasma samples of 520 patients who had all received the same induction regimen of vincristine, Adriamycin, and dexamethasone followed by high-dose melphalan. All the study subjects were younger than age 66 years.

Median overall survival was 7.5 years.

A total of 11% of the cohort had t(4;14) translocations, 5.4% had del(17p), and 33% had 1q gains (J. Clin. Oncol. 2012 [doi:10.1200/JCO.2011.36.5726]).
http://jco.ascopubs.org/content/30/16/1949

In contrast, patients who had two or more of these prognostic factors had a

median overall survival of only 33 months.

[lys2012]

Re: Weekly Poll - Chromosomal Abnormalities At Diagnosis

by lys2012 on Thu Jun 07, 2012 10:53 am

I know my bone marrow biopsy was sent off for chromosome testing, but all I was told was "about 15% of myeloma has bad genetic markers which makes it difficult to treat and not respond to stem cell transplant, yours did not have these".