Saturday 25 May 2013

Chromosome 1q21

Goodbye Keanu my multiple myeloma story


Then on my fourth doctor’s visit in April, I was hit with more bad news. I kind of wished they would just stop looking. This time it was on chromosome 1. Dr Comfort called it 1q. He said I was positive for this marker. He didn’t say “unfortunately” but it was hanging there in the air. I didn’t know what the hell he was talking about so I repeated it to myself: 1q, 1q, 1q so that when I got home I could do my research. In a nutshell: “The frequency of chromosome 1 aberrations in multiple myeloma is high and 1q21 amplification is a poor prognosis factor.” But then, just like with the t(14:16) abnormality I found the other side of the coin. “Amplification of 1q is universally identified in genetic studies of multiple myeloma and is associated with poor prognosis according to most studies. However, molecular profiles have identified a number of different genes believed to be of importance in this region. Because of the lack of a highly focal lesion and the lack of consensus on any critical genes, the clinical significance of amplification 1q is controversial. .. More research is needed to clarify the meaning of amplification of 1q…
      Yet another study had me feeling more powerful:
      Chromosome 1q21 is amplified in 40% of myeloma and linked to lower response to single-agent bortezomib (Drach J. 2006). A retrospective analysis in patients with relapsed myeloma suggests that bortezomib-based combinations may overcome the negative prognosis of 1q21 (Sagaster V. 2007). Interim review (Dec 2009) of the first 32 of 108 patients enrolled showed ORR (overall response rate) 97% (31/32), with 12.5% (4/32) stringent complete responses. Among the 24 of 32 patients evaluable for1q21, there was no difference in ORR between those with (7/7) compared to those without 1q21 amplification (16/17).
      A huge hematological dictionary was being formed in my brain. Like You Tube, when one cute cat video would undoubtedly lead me to watch another, the definition of one word compelled me to understand another and another until I was conscious that another day had disappeared and the laundry didn’t get done. But at the end of the day, although there were still dirty socks, I knew what an immunoglobulin heavy chain was.

No comments:

Post a Comment