Author: Katherine Lutz

Typing medulloblastoma: From RNA to proteomics and phospho-proteomics

medulloblastoma proteomics study
Medulloblastoma (CREDIT: ARMED FORCES INSTITUTE OF PATHOLOGY/WIKIMEDIA)

Medulloblastoma is one of the most common pediatric brain tumors, accounting for nearly 10 percent of cases. It occurs in the cerebellum, a complex part of the brain that controls balance, coordination and motor function and regulates verbal expression and emotional modulation. While overall survival rates are high, current therapies can be toxic and cause secondary cancers. Developing alternative therapeutics is a priority for the field.

As early as the 1990s, the lab of Scott Pomeroy, MD, PhD, neurologist-in-chief at Boston Children’s Hospital, discovered molecules in medulloblastoma tumors that could predict response to therapies. In 2010, Pomeroy and colleagues uncovered four distinct molecular subtypes of medulloblastoma.

The World Health Organization updated the brain tumor classification scheme in 2016 to include these molecular and genetic features. In the new scheme, tumor subtypes with a good molecular prognosis receive less radiation and chemotherapy. But the creation of targeted therapeutics has remained a challenge, since some of the genetic pathways implicated in these subtypes are found in non-cancerous cells.

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Finally in the game: Patient in drug trial for PTEN mutation seems to benefit

The first patient to receive everolimus for PTEN hamartoma tumor syndrome
Preston Hall is the first Boston Children’s Hospital patient with PTEN hamartoma tumor syndrome to be treated with everolimus. At left, Siddharth Srivastava, MD. (PHOTO: SEBASTIAN STANKIEWICZ/BOSTON CHILDREN’S HOSPITAL)

From the time of Preston Hall’s birth at 30 weeks, his parents navigated multiple diagnoses, surgeries and sometimes life-threatening medical issues. At 11 months, Preston underwent skull revision surgery for trigonocephaly (a fusion of the skull bones causing a triangular-shaped forehead). After surgery, his doctors discovered serious airway and gastrointestinal issues that led to his failure to thrive. Preston eventually bounced back, but the underlying cause of his complex medical problems remained a mystery. All the while, his fraternal twin Luke overcame more typical preemie issues by age 3.

“At one point Preston had 20 different diagnoses,” his mother, Jennifer Hall, says. “It wasn’t until he was about 4 years old that we started to think his delays were not due to prematurity alone.”

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Building neurosurgical care in the heart of Africa: One doctor’s story

Warf with the Ugandan hospital’s first five surgical patients

In 2000, Benjamin Warf sold his house and a small farm in Kentucky and left his position as Chief of Pediatric Neurosurgery at the University of Kentucky. After giving away most of their possessions, Warf, his six children, and his wife boarded a plane for Uganda, believing they were leaving the United States for good.

It was the beginning of an extraordinary six-and-a-half-year journey, fraught with violence, racism and difficult living conditions. Warf, at the age of 42, quickly went from being a respected neurosurgeon with many friends to being the strange white man people pointed to and laughed at on the street.

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