Author: Irene Sege

Mining similarities in pediatric and canine bone cancer to help both children and pets

dogs aid fight against osteosarcoma

In March 2016, Ollie, a therapy dog at Boston Children’s Hospital, paid a bedside visit to 7-year-old Carter Mock. The pug and the boy had something in common: Both had lost limbs to the bone cancer osteosarcoma. Ollie’s left front leg had been amputated at the shoulder, while Carter had just had a new knee fashioned from his ankle in a procedure called rotationplasty.

Biologically, the osteosarcoma that dogs develop is remarkably similar to osteosarcoma in children and youths. The tumors develop primarily in the long bones, and the spread of tumor cells to the lungs represents the most significant threat and challenge. Similar chemotherapy agents are used in both dogs and human patients to kill residual cancer cells. Researchers are now mining these similarities in a quest for new treatments to benefit pets and people alike.

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Rare blood disorder sideroblastic anemia slowly reveals its genetic secrets

congenital sideroblastic anemia
Regardless of the gene, all patients with sideroblastic anemia have sideroblasts: red blood cell precursors with abnormal iron deposits in mitochondria, shown here ringing the cell nucleus. (Paulo Henrique Orlandi Mourao/Wikimedia)

A decade ago, Brooks McMurray’s routine check-up was anything but routine. The suburban Boston boy’s spleen was enlarged. His red blood cell count was low and the cells were very small and very pale, which suggested a serious iron deficiency anemia. The family pediatrician referred McMurray, now a 19-year-old college freshman, to Dana-Farber/Boston Children’s Cancer and Blood Disorders Center.

There hematologists discovered the boy had unexpectedly high iron levels. Together with pathologist Mark Fleming, MD, DPhil, they solved the mystery. McMurray has congenital sideroblastic anemia, an inherited blood disorder so rare that fewer than 1,000 cases have been reported worldwide. Iron was getting stuck in the wrong place in the precursor red blood cells developing in his bone marrow.

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Do children with Down syndrome need modified chemo for leukemia? No, says study

leukemia down syndrome acute lymphoblastic leukemia

Clinicians have long known that children with Down syndrome carry an elevated risk of developing acute lymphoblastic leukemia (ALL), the most common pediatric cancer. Research consistently shows that children with Down syndrome are more likely to suffer complications from chemotherapy. At the same time, some studies have suggested that children with Down syndrome and ALL may have a higher chance of relapsing.

What to do with this knowledge has been a source of controversy. Should patients with ALL and Down syndrome receive treatment modified to minimize toxicity from chemotherapy? Or should they be given the same treatment as other children with ALL to minimize the chance for relapse? Recent study results from Dana-Farber/Boston Children’s Cancer and Blood Disorders Center suggest that full-dose chemo is preferable.

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Pediatric brain tumor responding well to melanoma drug, targeting a shared mutation

low grade glioma dabrafenib

When Danny Powers showed gross motor delays and poor balance as a toddler, early intervention specialists told his mother, Christi, that the problem was likely weak muscle tone. But when Danny developed severe headaches at age 4 during a family vacation, Christi took him to a local emergency room, where a CT scan revealed a mass in his head. His eventual diagnosis back home in Massachusetts was low-grade glioma, the most common pediatric brain tumor.

Fortunately, low-grade gliomas are non-malignant, slow-growing and highly curable, and most children can look forward to decades of survival. Unfortunately, the standard treatment — chemotherapy and, in some cases, radiation, in addition to surgery — is toxic and can damage the developing brain and body. Moreover, the tumors often regrow, requiring retreatment. By the time Danny was 13, he had been treated twice with surgery and once with a year of chemotherapy, which Mark Kieran, MD, PhD, clinical director of the Brain Tumor Center at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, likens to carpet bombing.

Instead of undergoing another course of chemotherapy when his tumor regrew yet again, Danny entered a clinical trial of a new, targeted drug that acts more like a guided missile — aimed directly at his cancer-causing mutation. 

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Double stem cell transplant and other tools are helping children survive neuroblastoma

neuroblastoma double stem cell transplant
Emily Coughlin during her neuroblastoma treatment

When Emily Coughlin complained of a sore knee in May 2009, doctors initially suspected Lyme disease. After antibiotics failed to relieve the pain, Emily was diagnosed with neuroblastoma, a cancer that begins in nerve cells outside the brain, just shy of her fourth birthday. Though neuroblastomia is rare — about 700 new cases occur annually in the United States — it is the most common cancer in infants and toddlers.

In the early 1990s, when Lisa Diller, MD, was starting her career at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, Emily would have faced five-year survival odds of less than 15 percent. “It was a devastating diagnosis,” recalls Diller, now chief medical officer of Dana-Farber/Boston Children’s.

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Wine used to toast CGD gene therapy trial linked to decades-long scientific journey

CGD
Brenden Whittaker (left) and David Williams, MD (photo: Sam Ogden)

When Brenden Whittaker of Columbus, Ohio, the first patient treated with gene therapy for chronic granulomatous disease (CGD), showed successful engraftment last winter, the gene therapy team lifted glasses for a celebratory toast. The wine they sipped was no ordinary wine. The 2012 Bordeaux blend came from an award-winning California vineyard owned and operated by Robert Baehner, MD, a pioneering pediatric hematologist with ties to Dana-Farber/Boston Children’s Cancer and Blood Disorders Center.

Decades before, Baehner had done fundamental research in CGD, an inherited immune system disorder that occurs when phagocytes, white blood cells that normally help the body fight infection, cannot kill the germs they ingest and thus cannot protect the body from bacterial and fungal infections.

Children with CGD are often healthy at birth, but develop severe infections in infancy and early childhood from bacteria that would cause mild disease or no illness at all in a healthy child. This was true for Whittaker. Diagnosed with CGD when he was 1, his disease became increasingly severe, forcing him to quit school several years ago.

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Give childhood cancer a place on the cancer ‘moonshot’

cancer moonshot

Cancer remains the leading disease-related cause of death in children in the United States. Yet, when it comes to cancer research funding and drug development, pediatric cancer is often left behind, writes David A. Williams, MD, president of Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, in Boston Globe Media’s STAT.

Although there are more than 150 types of childhood cancer, pediatric cancer receives only a small fraction of NIH and National Cancer Institute funding, Williams writes. Yet, he points out, just as breakthroughs in adult cancer research can help children, breakthroughs in pediatric cancer can also benefit adults.

Williams and other members of the Coalition for Pediatric Medical Research recently met with the staff of Vice President Joseph Biden, leader of the federal government’s cancer moonshot. Their message? Make sure that pediatric cancer is represented on the moonshot.

Read Williams’s STAT piece.

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Advances in SCID (“bubble boy” disease): A Q&A with a child hematologist/oncologist

David Williams, Luigi Notarangelo and Sun-Yung PaiSung-Yun Pai, MD, a pediatric hematologist/oncologist at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, was lead author on two recent articles on severe combined immune deficiency (SCID) in The New England Journal of Medicine. The first reviewed outcomes after bone marrow transplantation; the second reported the first results of a new international gene therapy trial for X-linked SCID. Here, she discusses what’s known to date about these therapies.

Q: What is SCID?

A: SCID is a group of disorders that compromise the blood’s T cells, a key component of the immune system that helps the body fight common viral infections, other opportunistic infections and fungal infections. T-cells are also important for the development of antibody responses to bacteria and other microorganisms. A baby born with SCID appears healthy at birth, but once the maternal antibodies that the baby is born with start to wane, the infant is at risk for life-threatening infections. Unless diagnosed and treated—with a stem cell transplant from a healthy donor or a more experimental therapy like gene therapy—babies with SCID typically die before their first birthday.

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