They additionally had tumors, starting from benign, like goiters and uterine fibroids, to malignant, like these from melanoma and blood cancers. During the two-year examine, 4 sufferers died of quite a lot of cancers.
Harriet Brown, 73, of Frederick, Md., is without doubt one of the examine individuals with very lengthy telomeres. She has had benign tumors referred to as paragangliomas in her neck and throat, thyroid most cancers and two melanomas. She additionally has CHIP, the blood dysfunction related to coronary heart illness and blood cancers.
She has frequent scans and exams however, she mentioned, “there is really not much I can do at this point,” as a result of there is no such thing as a option to stop extra tumors from growing.
The results of lengthy telomeres on folks like Ms. Brown make excellent sense, mentioned Dr. Norman Sharpless, professor of most cancers coverage and innovation on the University of North Carolina School of Medicine and a former director of the National Cancer Institute.
“It’s not that long telomeres make cells grow,” he mentioned. “It’s that they don’t have the brakes to make them stop growing.” And as a result of the telomeres of individuals with POT1 mutations don’t develop shorter with every cell division, the cells hold round, dividing usually. The longer they’re dividing within the physique, the extra time they should accumulate random mutations, a few of which immediate tumor development.
That’s very true in blood, the place cells are continuously being produced. POT1 mutations in a few of these blood cells may give them time to build up different mutations that give them a selective benefit in development. Soon a few of these mutated blood cells just about take over an individual’s bone marrow. The result’s CHIP.
That is a brand new view of CHIP. The thought had been that as a result of folks with CHIP have been at elevated danger for blood most cancers, that CHIP itself was inflicting most cancers.