{"id":215451,"date":"2026-01-01T20:50:07","date_gmt":"2026-01-01T20:50:07","guid":{"rendered":"https:\/\/www.newsbeep.com\/il\/215451\/"},"modified":"2026-01-01T20:50:07","modified_gmt":"2026-01-01T20:50:07","slug":"genetic-variant-appears-to-protect-against-blood-cancers","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/il\/215451\/","title":{"rendered":"Genetic variant appears to protect against blood cancers"},"content":{"rendered":"

Over time, hematopoietic or blood stem cells can quietly acquire mutations that push them to divide just a little more aggressively, creating a larger group of clones in the bone marrow. In a fraction of people with this phenomenon, called clonal hematopoiesis of indeterminate potential \u2014 CHIP, for short \u2014 these cells can transform into cancers such as leukemia, though most will remain benign.<\/p>\n

One possible reason for this variability might lie in a genetic variant that appears to protect against the development of CHIP and its progression into certain blood cancers, according to a study published on Thursday<\/a> in Science. The work also reveals a potential avenue to develop new therapeutics for the pre-cancerous condition, something that cancer researchers have sought for years.<\/p>\n

Having the genetic variant \u201creduced your risk of myeloid malignancies by 20%,\u201d said Vijay Sankaran, the senior author on the study and a physician-scientist at Boston Children\u2019s Hospital and the Broad Institute. \u201cWhat we\u2019re excited about here is we identify a pathway that\u2019s critical for this progression, and could be targeted.\u201d<\/p>\n

\t\t\t\"\"\t\t<\/p>\n

\t\t\t\t\"\"\/
\n\t\t\t\tSTAT Plus: \u2018Remarkable\u2019 drug results against an aggressive leukemia<\/a><\/p>\n

Adults have tens to hundreds of thousands of hematopoietic stem cells. They are the initial source for our blood, including red blood cells, platelets, and most immune cells, and also must renew themselves. As these cells replicate, CHIP can occur when they pick up mutations commonly associated with certain blood cancers. Alone, it\u2019s not enough to transform them into cancer, but it can push them to multiply faster \u2014 creating a group of clones that disproportionately contribute to blood production.<\/p>\n

These mutant cells produce blood just as well as their nonmutant brethren, but they progress into cancers like leukemia or myelodysplastic syndrome at a rate of about 1% per year. CHIP is also associated with worse outcomes across a range of conditions including cardiovascular disease and chronic kidney disease.<\/p>\n

\u201cWith some rare exceptions, CHIP has been bad all around,\u201d Sankaran said. \u201cWe know, in general your risk of blood cancer is increased three to five times compared to the general population.\u201d<\/p>\n

Sankaran wanted to find genetic variations in people that might predispose them towards getting CHIP or potentially protect them from it. To do the study, he began looking in large biological databases like the UK Biobank and from the All Of Us Study and studying the genomes of people with and without CHIP mutations. In the team\u2019s analyses, the researchers found that people who had a specific genetic variant that lowers levels of a protein called Musashi2, or MSI2, seemed to be less likely to develop myeloid cancers.<\/p>\n

\u201cIf they have one copy of this variant, they\u2019re far less likely to show expansion of those CHIP clones. You are 1.8-fold more likely for that clone to disappear,\u201d Sankaran said.<\/p>\n

\t\t\t\"\"\t\t<\/p>\n

\t\t\t\t\t\tStudy paints clearer picture of disadvantaged leukemia patients\u2019 struggle to get bone marrow transplants<\/a><\/p>\n

The protein\u2019s normal function is to bind mRNA in the cell, stabilizing it and allowing the cell to construct more of the protein encoded within the mRNA. In subsequent analyses, Sankaran found that some of these mRNAs tend to derive from genes related to cell growth and, when mutated, are linked to cancers. Lowering MSI2 in the hematopoietic stem cells thus might also dampen the impact of overactive growth, Sankaran hypothesized.<\/p>\n

\u201cThis is probably like putting the brakes on the self-renewal that cancers take advantage of,\u201d he said.<\/p>\n

Identifying a protective variant like this is \u201cgroundbreaking,\u201d said Koichi Takahashi, an oncologist and cancer researcher at the University of Texas MD Anderson Cancer Center, who did not work on the study. \u201cThe finding that this particular inherited variant will protect you from getting CHIP and also myeloid malignancy, this can be translated to precision oncology,\u201d he said.<\/p>\n

Elucidating how the MSI2 protein might affect cancer development creates a potential research path toward developing preventive medicines for blood cancer. \u201cThere\u2019s no good way currently to downregulate Musashi2 but, if there is a way, it could be applied as a therapeutic option,\u201d Takahashi said.<\/p>\n

Though, he added, it will take significant work to develop such a therapeutic, including understanding whether there are any drawbacks to modifying MSI2 levels in this way. \u201cThey reported in this paper that individuals with this variant, yes, it reduces risk of CHIP and myeloid malignancies, but at the same time, these individuals have lower blood counts overall,\u201d Takahashi said. Theoretical concerns include an increased risk of bleeding or infection.<\/p>\n

Still, some individuals with CHIP have a significantly higher risk of developing blood cancers than others, including people with high risk mutations like TP53 or with large CHIP clones. In some high-risk cases, the chance of developing blood cancer over the next 5 to 10 years can be as high as 60%, Takahashi said. \u201cIf treatment can really reduce or abolish risk of getting myeloid malignancy, then maybe a mild level of toxicity can be acceptable,\u201d he said.<\/p>\n

That\u2019s where Sankaran hopes this research will go eventually. \u201cThe field has advanced so much in knowing how to detect CHIP and what some risks associated with CHIP are,\u201d he said. But the field has not yet figured out what to do once CHIP is found. Perhaps, he said, research on MSI2 can finally lead to a therapeutic option for high risk patients where there hasn\u2019t been one.<\/p>\n","protected":false},"excerpt":{"rendered":"Over time, hematopoietic or blood stem cells can quietly acquire mutations that push them to divide just a…\n","protected":false},"author":2,"featured_media":215452,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[10],"tags":[165,163,85,46,1360],"class_list":["post-215451","post","type-post","status-publish","format-standard","has-post-thumbnail","category-health","tag-cancer","tag-health","tag-il","tag-israel","tag-research"],"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/posts\/215451","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/comments?post=215451"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/posts\/215451\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/media\/215452"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/media?parent=215451"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/categories?post=215451"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/il\/wp-json\/wp\/v2\/tags?post=215451"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}