Science seen: Oral cancer up close

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Oral squamous cell carcinoma (OSCC), a kind of oral cancer, affects some 30,000 Americans annually. It spreads through the lymphatic system and often has already metastasized by the time it’s diagnosed. The top image here is a healthy mouse tongue; the bottom is the swollen tongue of a mouse with OSCC. The cancerous tongue is overloaded with lymphatic vessels, appearing in blue and white, which help the tumor spread to the regional lymph nodes. The Bielenberg lab in Boston Children’s Hospital’s Vascular Biology Program is studying ways of blocking the progression of this and other cancers by inhibiting their spread through the lymphatic system. (Image: Bielenberg laboratory/Kristin Johnson)

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3-D printed hearts of hope

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Jason Ayres with son Patrick, Dr. Emani, and Patrick’s 3-D printed heart

Jason Ayres, a family doctor in Alabama, was speechless as he held his adopted son Patrick’s heart in his hands. Well, a replica of his son’s heart — an exact replica, 3-D printed before the 3-year-old boy had lifesaving open-heart surgery.

Patrick was one of the first beneficiaries of 3-D printing technology at Boston Children’s Hospital, which last year helped open a new frontier in pediatric cardiac surgery. Patrick was born with numerous cardiac problems; in addition to double outlet right ventricle and a complete atrioventricular canal defect, his heart lay backwards in his chest.

“We knew early on that he’d need complex surgery to survive,” says Jason.

Finely detailed models of Patrick’s heart gave surgeon Sitaram Emani, MD, at the Boston Children’s Heart Center an up-close-and-personal look at his complex cardiac anatomy.

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Pediatric cancers and precision medicine: The feasibility question

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What is precision cancer medicine all about? See the full infographic at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center.

A family walks into their oncologist’s office and sits down. Their son’s care team is there, ready to discuss the sequencing report they received about the tumor in his leg.

“We think we have something,” the oncologist says. “We found a known cancer-associated mutation in one gene in the tumor. There’s a drug that targets that exact mutation, and other children and adults whose tumors have this mutation have responded well. We’ll have to monitor your son closely, but we think this is a good option.”

This hypothetical conversation, while common in adult oncology, happens rarely (if at all) on the pediatric side. This kind of personalized, genomics-driven medicine (where the genetic alterations in a patient’s tumor drive therapy, not the tumor’s location) isn’t a standard approach for childhood cancers yet.

Note that I said yet. The door to personalized pediatric genomic cancer medicine is cracking open, in part because three recent papers — including one out of Dana-Farber/Boston Children’s Cancer and Blood Disorders Center — are starting to convince the field that clinical genomics can indeed be done in pediatric oncology.

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The cell that caused melanoma: Cancer’s surprise origins, caught in action

It’s long been a mystery why some of our cells can have mutations associated with cancer, yet are not truly cancerous. Now researchers have, for the first time, watched a cancer spread from a single cell in a live animal, and found a critical step that turns a merely cancer-prone cell into a malignant one.

Their work, published today in Science, offers up a new set of therapeutic targets and could even help revive a theory first floated in the 1950s known as “field cancerization.”

“We found that the beginning of cancer occurs after activation of an oncogene or loss of a tumor suppressor, and involves a change that takes a single cell back to a stem cell state,” says Charles Kaufman, MD, PhD, a postdoctoral fellow in the Zon Laboratory at Boston Children’s Hospital and the paper’s first author.

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Genetic analysis backs a neuroimmune view of schizophrenia: Complement gone amok

C4 (in green) located at the synapses of human neurons. (Courtesy Heather de Rivera, McCarroll lab)
C4 (in green) located at the synapses of human neurons. (Courtesy Heather de Rivera, McCarroll lab)

A deep genetic analysis, involving nearly 65,000 people, finds a surprising risk factor for schizophrenia: variation in an immune molecule best known for its role in containing infection, known as complement component 4 or C4.

The findings, published this week in Nature, also support the emerging idea that schizophrenia is a disease of synaptic pruning, and could lead to much-needed new approaches to this elusive, devastating illness.

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Microptosis: Programmed death for microbes?

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Trypanosoma parasites in a blood smear. (CDC)

Of the various ways for a cell to die — necrosis, autophagy, etc. — apoptosis is probably the most orderly and contained. Also called programmed cell death (or, colloquially, “cellular suicide”), apoptosis is an effective way for diseased or damaged cells to remove themselves from a population before they can cause problems such as tumor formation.

“Apoptosis has special features,” says Judy Lieberman, MD, PhD, an investigator in Boston Children’s Hospital’s Program in Cellular and Molecular Medicine. “It’s not inflammatory, and it activates death pathways within the cell itself.”

Conventional wisdom holds that apoptosis is exclusive to multicellular organisms. Lieberman disagrees. She thinks that microbial cells — such as those of bacteria and parasites — can die in apoptotic fashion as well. In a recent Nature Medicine paper, she and her team make the case for the existence of what they’ve dubbed “microptosis.” And they think it could be harnessed to treat parasitic and other infections.

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Fertility preservation for children with cancer: What are the options?

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More than 75 percent of children diagnosed with cancer are surviving into adulthood, leaving more and more parents to wonder: Will my child be able to have children down the road?

They’re right to be concerned. The cancer treatments that are so effective at saving children’s lives can themselves cause a host of problems that don’t manifest until years later. These late effects include particularly harsh impacts on fertility.

On our sister blog Notes, urologist Richard Yu, MD, PhD, of Boston Children’s Hospital and fertility specialist Elizabeth Ginsberg, MD, of Brigham and Women’s Hospital outline where the science of fertility preservation is going.

“It may take 15 or 20 years to develop the techniques to help a child who is 8 years old now,” notes Yu. “But if you don’t preserve something now, you run the risk of not being able to do anything for them later, which is where we are now with a large number of adults who survived childhood cancer.”

Read more about fertility preservation and childhood cancer on Notes.

 

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How whole-genome sequencing solved my son’s genetic mystery

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A longer version of this article was published in the journal Narrative Inquiry in Bioethics as part of a special issue on patients’ experiences with genetic testing.

“Negative.” “Normal.” “Fails to confirm the diagnosis of . . .” “Etiology of the patient’s disease phenotype remains unknown.”

These are words I heard repeatedly in the first 11 years of my son’s life. Even as new genes for my son’s rare muscle disorder were discovered around the world, negative or “normal” genetic test results were reported back to us 13 times.

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Keeping up with marijuana use and its outcomes in kids

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For the first time since 1937, marijuana is legal for recreational use: adults now can legally possess it in Colorado, Washington, Oregon and Alaska, and there are similar ballot initiatives in many states. With laws at least partially legalizing marijuana in 23 states and the District of Columbia, it’s now a big business. A study comparing 2012-2013 with 2001-2002 found that marijuana use had doubled over the 10 year-period. And that was three years ago.

What are the public health consequences of freely available weed — both acute and long-term? Are we making a big mistake here?

Concerned about potential harms to adolescents, Sharon Levy, MD, MPH and Elissa Weitzman, ScD, Msc, of Boston Children’s Hospital’s division of Adolescent/Young Adult Medicine argue for a better, real-time marijuana surveillance system in this week’s JAMA Pediatrics.

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Lasers for on-demand local pain relief?

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(Juergen Faelchle/Shutterstock)

Consider this scenario: A patient is home recovering from knee surgery to repair an ACL tear. Her pain medications are wearing off, and the surgical cuts are starting to throb. Reaching over to the table she picks up what’s essentially a souped-up laser pointer, points it at the surgical wound and turns it on. Within seconds, the pain starts to fade.

This picture isn’t as far-fetched as you might think. In a pair of simultaneous papers, Boston Children’s Hospital’s Daniel Kohane, MD, PhD, and his laboratory recently reported their efforts to create not one, but two methods for packaging long-lasting local anesthetics in microspheres that could be injected in advance by a surgeon or anesthesiologist and that would release the drugs when zapped with a laser. Both methods have one goal in common: to provide patients with durable, localized and personalized control of surgical, traumatic or chronic pain with minimal side effects.

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