The Culture of Different MKTG_150064494_2018 Service Line Big Book Full_FIN | Page 30
Prevention in the Uncharted World of Childhood Polyposis
Cancer • Gastroenterology and GI Surgery • Dermatology • Genetics
Ophthalmology • Pediatric Surgery
through a lot of information: what genes are, what
a mutation does, how polyps form, how genetic
testing works. She assures the parents that the
team isn’t worried about cancer — at least not for
now. She answers questions.
Then she goes through family history. There’s the
cousin with adrenal cancer. An aunt had polyps.
A grandma had colon cancer. A sister had a brain
tumor. Breast cancer on one side. Stomach cancer
on the other. Schneider sketches it out on a pad, a
medical family tree known as a “pedigree.”
She talks Ana and Jorge through the testing. If
found, a mutation in APC could offer a good idea
of what’s to come — although a negative result
wouldn’t necessarily mean a mutation is not there.
There’s also the fact that, even if Jaime has an APC
mutation, polyps typically won’t start developing
before age 10. He’s too young to consent to the
testing now, but the results will potentially impact
the rest of his life.
pathologically different). Unlike FAP — which is
linked almost ubiquitously to APC mutations —
JPS remains nebulously defined. Some forms are
linked to the genes BMPR1A or SMAD4 and others
to Peutz-Jeghers syndrome; more than 60 percent
have no currently known genetic link.
Seth Septer, DO, one of the clinic’s two pediatric
gastroenterologists, co-leads a national study
with investigators at the Cleveland Clinic to
better classify gene-positive and gene-negative
forms of JPS. Schneider has also been closely
involved. In the long run, they hope to get a better
understanding of what risks these diseases pose,
and how to follow patients not just while they’re
young, but over the course of their lives.
“We’re looking at which patients with juvenile
polyps seem to be at highest risk of developing
more polyps or colorectal cancers later in life,”
says Dr. Septer. “The hope is to guide diagnostic
criteria in the future.”
“It’s up to us to be the leaders in taking
care of these children.”
K A M I WO L F E S C H N E I D E R , M S , C G C
Genetic counselor, Center for Cancer and Blood Disorders
“Once you know,” Schneider counsels, “you can’t
take it back.”
Ana doesn’t hesitate. “We want to do it.”
Outperforming the
treatment curve
The polyposis program’s most common
referral is for juvenile polyposis syndrome, or
JPS, characterized by the presence of more
than five juvenile polyps (as opposed to
the adenomatous polyps of FAP, which are
“There’s also the question of whether it’s a genetic
issue versus an immune issue, whether the local
immune environment in the colon predisposes
these kids to polyp formation,” says Lindsey
Hoffman, DO, the clinic’s pediatric oncologist.
“There’s a lot left to learn.”
“It’s really important to understand these
conditions,” adds Schneider. “Being in a clinic
connected internationally with other experts in
this area, it’s up to us to be the leaders in taking
care of these children.”
Right now, treatment options are limited: polyp
removal and, if polyps become too numerous,
colectomy. Even there, the team is ahead of the
curve. Early adopters of video capsule technology
to screen for polyps of the small bowel 15 years
ago, the clinic’s GI team was more recently one
of the first to use balloon enteroscopy, a system
of balloons that prop open the small bowel like
temporary stints. This new technique allows
endoscopy expert Robert Kramer, MD, to resect
polyps from much deeper in the GI tract than
standard endoscopy can reach (see p. 32).
Previously, these procedures had required
invasive surgery.
Even in cases of colon resection — an
inevitability for kids with FAP — team effort
keeps impact to quality of life at a minimum.
Social workers and ostomy nurses educa