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

CAR-T immunotherapy may help blood cancer patients who don't respond to standard treatments

October 20, 2017
Siteman Cancer Center at Barnes-Jewish Hospital and Washington University School of Medicine in St. Louis is one of the first centers nationwide to offer a new immunotherapy that targets certain blood cancers. Newly approved ...

Researchers pinpoint causes for spike in breast cancer genetic testing

October 20, 2017
A sharp rise in the number of women seeking BRCA genetic testing to evaluate their risk of developing breast cancer was driven by multiple factors, including celebrity endorsement, according to researchers at the University ...

Study shows how nerves drive prostate cancer

October 19, 2017
In a study in today's issue of Science, researchers at Albert Einstein College of Medicine, part of Montefiore Medicine, report that certain nerves sustain prostate cancer growth by triggering a switch that causes tumor vessels ...

Gene circuit switches on inside cancer cells, triggers immune attack

October 19, 2017
Researchers at MIT have developed a synthetic gene circuit that triggers the body's immune system to attack cancers when it detects signs of the disease.

One to 10 mutations are needed to drive cancer, scientists find

October 19, 2017
For the first time, scientists have provided unbiased estimates of the number of mutations needed for cancers to develop, in a study of more than 7,500 tumours across 29 cancer types. Researchers from the Wellcome Trust Sanger ...

Researchers target undruggable cancers

October 19, 2017
A new approach to targeting key cancer-linked proteins, thought to be 'undruggable," has been discovered through an alliance between industry and academia.

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.