Rare cancers yield potential source of tumor growth

September 18, 2012

(Medical Xpress)—Researchers at the National Institutes of Health have discovered a genetic mutation that appears to increase production of red blood cells in tumors. The discovery, based on analysis of tissue from rare endocrine tumors, may help clarify how some tumors generate a new blood supply to sustain their growth, the researchers explained.

The finding could lead to information on how to hinder the growth of tumors and treat cancers associated with excessive production of .

"The finding has provided an important new lead that may yield information useful to understanding and treating a number of different types" said Constantine A. Stratakis, M.D., D.Sc., scientific director of the Division of Intramural Research at the NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).

Dr. Stratakis was a member of the research team that made the discovery. The team was led by the study's senior author, Dr. Karel Pacak, head of the Section on Medical Neuroendocrinology at NICHD. In addition to researchers at the NICHD, the team also included researchers at National Institute of Neurological Disorders and Stroke, the , the University of Utah School of Medicine, in Salt Lake City, and the University of Belgrade, in Serbia.

Their findings appear in the .

The researchers analyzed tumors from two patients. Both had a rare type of tumor, known as paraganglioma, which forms from chromaffin cells outside the , near blood vessels and nerves. Chromafin cells produce the hormone norepinephrine (adrenaline.) One patient also had a rare tumor of the duodenum known as a somatostatinoma.

Since birth, both patients had polycythemia, a rare disease in which the body produces too many red blood cells.

Analysis of the tumor tissue revealed that it contained an alteration in one of the family of genes called hypoxia-inducible factors (HIFs). HIFs have been implicated in the development of tumors and the progression of cancers. HIFs are made of two subunits, termed alpha and beta, and those subunits have been found to play a role in cancers. In the current study, the researchers found that the altered HIF2A gene generated proteins that were broken down more slowly than the typical form of the gene. In the presence of these proteins, the researchers also documented increased levels of a hormone that stimulates the production of red blood cells.

HIF genes are most active in conditions of low oxygen, such as in tumor tissue. Dr. Pacak explained that previous studies have found that a patient's polycythemia has disappeared after a paraganglioma or pheochromocytoma (chromaffin cell tumors arising in the adrenal gland) was removed.

The researchers concluded that the mutation may have altered gene activity in a way that led to more tumors growing in the bodies of the patients they examined.

Explore further: HIF gene mutation found in tumor cells offers new clues about cancer metabolism

Related Stories

HIF gene mutation found in tumor cells offers new clues about cancer metabolism

September 6, 2012
For the first time, a mutation in HIF2α, a specific group of genes known as transcription factors that is involved in red blood cell production and cell metabolism, has been identified in cancer tumor cells.

Researchers follow a path to a potential therapy for NF2, a rare tumor disorder

April 15, 2011
The proteins that provide cells with a sense of personal space could lead to a therapeutic target for Neurofibromatosis Type 2 (NF2), an inherited cancer disorder, according to researchers at The Wistar Institute. Their findings, ...

Recommended for you

Compound shows promise in treating melanoma

July 26, 2017
While past attempts to treat melanoma failed to meet expectations, an international team of researchers are hopeful that a compound they tested on both mice and on human cells in a petri dish takes a positive step toward ...

Study uncovers potential 'silver bullet' for preventing and treating colon cancer

July 26, 2017
In preclinical experiments, researchers at VCU Massey Cancer Center have uncovered a new way in which colon cancer develops, as well as a potential "silver bullet" for preventing and treating it. The findings may extend to ...

Understanding cell segregation mechanisms that help prevent cancer spread

July 26, 2017
Scientists have uncovered how cells are kept in the right place as the body develops, which may shed light on what causes invasive cancer cells to migrate.

Study may explain failure of retinoic acid trials against breast cancer

July 25, 2017
Estrogen-positive breast cancers are often treated with anti-estrogen therapies. But about half of these cancers contain a subpopulation of cells marked by the protein cytokeratin 5 (CK5), which resists treatment—and breast ...

Physical activity could combat fatigue, cognitive decline in cancer survivors

July 25, 2017
A new study indicates that cancer patients and survivors have a ready weapon against fatigue and "chemo brain": a brisk walk.

Breaking the genetic resistance of lung cancer and melanoma

July 25, 2017
Researchers from Monash University and the Memorial Sloan Kettering Cancer Center (MSKCC, New York) have discovered why some cancers – particularly lung cancer and melanoma – are able to quickly develop deadly resistance ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.