St. Jude researcher uncovers link to adrenal cancers in Brazil

By Updated: June 25, 2020 2:52 PM CT | Published: June 24, 2020 1:55 PM CT
<strong>Emilia Pinto sits in the garden of her East Memphis apartment building June 23, 2020. Pinto, who hails from Brazil, has discovered a gene that is linked to cancer in a large segment of the Brazilian population through her research at St. Jude Children’s Hospital.</strong> (Patrick Lantrip/Daily Memphian)

Emilia Pinto sits in the garden of her East Memphis apartment building June 23, 2020. Pinto, who hails from Brazil, has discovered a gene that is linked to cancer in a large segment of the Brazilian population through her research at St. Jude Children’s Hospital. (Patrick Lantrip/Daily Memphian)

Cancer researcher Emilia Pinto came to St. Jude Children’s Research Hospital 11 years ago this summer from Brazil to begin teasing out answers to why so many people in her home country develop adrenal cancer.

Her name now is asterisked for posterity in Brazil and across cancer research.

Pinto identified a gene mutation that, when combined with another mutation common among Brazilian people, dramatically increases their risk of adrenal cancer, plus a host of others.

“For me, being here in Memphis, Tennessee, and able to help is truly, truly important,” she said, joy animating her face on a Zoom interview this week. “I have been working on this disease for more than 20 years.”

Three years after it opened, St. Jude graduate school has first Ph.D.s

In the United States, doctors see three or four cases a year of adrenocortical cancers. In Brazil, doctors see that many cases in a month.

More than 20 years ago, St. Jude researchers, led by Dr. Raul Ribeiro, also from Brazil, discovered a gene mutation so common in Brazil that one in 300 of the people have it.

The mutation is labeled TP53-R337H.

Pinto later connected the dots to link the mutation to the bloodlines of Europeans that colonized Brazil.

But still, researchers could not understand why it acted so randomly, including among people who had no hereditary links.

“The TP53-R337H mutation does not explain the entirety of cancer risk,” said Gerard Zambetti, senior author on the study and a member of St. Jude Pathology.

“Variation among individuals with TP53-R337H can lead some to develop several forms of cancer, some to develop a single cancer and others to never develop cancer at all.”

St. Jude researchers, under the leadership of Dr. James Downing, now the hospital’s CEO, sequenced the entire pediatric cancer genome, starting in 2010.

When Pinto went back to the sequencing to dig into the issue of TP53-R337H, she discovered a mutation in another gene, XAF1.

The results were published today in the online version of the journal, Science Advances.

People who have both genes have a much higher chance of developing cancers. They account for about 70% of the people who have the TP53-R337H gene mutation.

For years, Brazil has been screening everyone with the TP53-R337H mutation for a series of cancers with tests that sometimes have to be administered every three to four months.

With the discovery of the second mutation, 30% fewer people will need the screenings.

“When you screen for this second mutation, you can manage it better. You have more accuracy,” Pinto said.

Pinto and other St. Jude researchers compared the samples of more than 1,000 patients from Brazil and the United States through partnerships the hospital has through St. Jude Global, an alliance of researchers around the world.

“This study would not have been possible without the collaboration of our partners around the world,” said Dr. Carlos Rodriguez-Galindo, chair of the St. Jude Department of Global Pediatric Medicine.

“These results will have an impact on public health in Brazil but are also important for the pediatric cancer community at large.”

A doctor in Brazil working with gastric tumors has already found “that these two mutations are prevalent in those tumor types,” Pinto said.

Internationally known neurologist leads new center at St. Jude

Now that the second mutation is known, pharmaceutical companies can develop drugs to target the mutation, possibly correcting it. She expects genetic companies will also include the gene in their search forms.

Pinto’s paper has 65 co-authors, including 11 from St. Jude, plus researchers from Brazil, Portugal, Spain, France and Germany.

Pinto came to Memphis in 2009 on a grant from St. Jude to work on the molecular biology of pediatric adrenocortical tumors.

“After my first year, I was asked to extend my time for another year,” she said.

When that year was over, St. Jude offered her a full-time research position.

“I gave up a position in Brazil and have been working in the same lab since my first day at St. Jude,” she said.

“We have the resources in Brazil. We have the people; we have the everything. But we don’t have opportunities like we have at St. Jude.

“St. Jude is a place where you can do whatever you want. If you have an opportunity to follow your dream, you are going to have the support.”


Emilia Pinto St. Jude Children's Research Hospital

Jane Roberts

Longtime journalist Jane Roberts is a Minnesotan by birth and a Memphian by choice. She's lived and reported in the city more than two decades. She covers healthcare and higher education for The Daily Memphian.

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