Rare cancers yield potential source of tumor growth

September 18, 2012, National Institutes of Health

(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

T-cells engineered to outsmart tumors induce clinical responses in relapsed Hodgkin lymphoma

January 16, 2018
WASHINGTON-(Jan. 16, 2018)-Tumors have come up with ingenious strategies that enable them to evade detection and destruction by the immune system. So, a research team that includes Children's National Health System clinician-researchers ...

Researchers identify new treatment target for melanoma

January 16, 2018
Researchers in the Perelman School of Medicine at the University of Pennsylvania have identified a new therapeutic target for the treatment of melanoma. For decades, research has associated female sex and a history of previous ...

More evidence of link between severe gum disease and cancer risk

January 16, 2018
Data collected during a long-term health study provides additional evidence for a link between increased risk of cancer in individuals with advanced gum disease, according to a new collaborative study led by epidemiologists ...

Researchers develop a remote-controlled cancer immunotherapy system

January 15, 2018
A team of researchers has developed an ultrasound-based system that can non-invasively and remotely control genetic processes in live immune T cells so that they recognize and kill cancer cells.

Dietary fat, changes in fat metabolism may promote prostate cancer metastasis

January 15, 2018
Prostate tumors tend to be what scientists call "indolent" - so slow-growing and self-contained that many affected men die with prostate cancer, not of it. But for the percentage of men whose prostate tumors metastasize, ...

Pancreatic tumors may require a one-two-three punch

January 15, 2018
One of the many difficult things about pancreatic cancer is that tumors are resistant to most treatments because of their unique density and cell composition. However, in a new Wilmot Cancer Institute study, scientists discovered ...

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.