Archive for January 31, 2012

When Doctors Encounter Diseases without Names


The complicated meaty machine that is the human body can break down in a remarkable variety of ways. The 9th edition of the International Classification of Diseases (ICD-9) includes more than 16,000 afflictions – everything from the bite of a venomous tropical millipede to injury by falling spacecraft debris.

With all of these dangers, it is truly a wonder that any of us can get out of bed in the morning. And yet any doctor who cares for patients knows that there are many other diseases that ICD-9 has never heard of – medical terra incognita, disorders that have yet to be defined or clearly described.

My colleagues and I are regularly asked to consult on patients with peculiar problems that don’t fit textbook depictions of any known disease, or where there is confusion because several similar diagnoses would fit equally well. Some of these patients have unusual manifestations of well-known medical conditions, but others may suffer from entirely new entities.

Lynne is one such patient with a murky malady. She’s a globetrotting academic whose frequent-flyer-mile accumulation rate dropped after she was diagnosed with an unusual form of anemia called sideroblastic anemia, which she could either have been born with or could have acquired.

Existing tests could not distinguish between these possibilities, and without knowing where the disease originated, no one could tell Lynne what to expect or predict how her condition might evolve.

When I first saw Lynne in Dana-Farber’s Center for Hematologic Oncology, she allowed me to save some extra cells from her blood and bone marrow for future research.

A few months later, at an international symposium in Scotland in May 2011, I heard a European scientist talk about a novel mutation in a gene called SF3B1 that she’d just found in blood cells from people with a form of myelodysplastic syndrome (MDS) that resembled Lynne’s condition.

When I got back to Boston, I called my friend Dr. Rafael Bejar, an extraordinarily talented scientist currently working in the laboratory of Dr. Ben Ebert at Brigham and Women’s Hospital. Raf had met Lynne and knew all the details of her problem. Raf said he could examine DNA from Lynne’s stored cells and look for this new mutation.

Raf found that Lynne’s blood cells have the most common (K700E) mutation in SF3B1, clearly identifying her condition as an unusual type of MDS called refractory anemia with ring sideroblasts. The rest of her cells have normal SF3B1, which meant she wasn’t born with this, and couldn’t have passed it on to her children. Some early reports suggest that this mutation confers a good prognosis.

Lynne was pleased to learn about the molecular clarification of her diagnosis, which we were able to tell her about months before the first papers on these mutations appeared in print in the journals Nature and The New England Journal of Medicine. It will likely be some time before any for-profit clinical lab offers testing for mutations in this gene.

Now we have assembled a collection of cells from other patients with unusual forms of anemia who don’t have SF3B1 or any other known mutation. In collaboration with Dr. Mark Fleming at Boston Children’s Hospital and several other researchers, we’re on the verge of defining several brand-new maladies at the molecular level.

I’ve worked previously at clinical institutions where parking was easier and my daily commute was less painful than it is now. Those hospitals were fantastic places in many respects. But the ability to collaborate with scientists just across the street who are of the caliber of Raf, Ben, and Mark – people who are both brilliant, and enthusiastic about studying patients with the same conditions that I want to understand better – was more limited there.

This is something unique about Dana-Farber: Patients and their doctors have access to a vibrant cohort of scientific collaborators who are second to none in the world, who are making discoveries in real time, and can bring a ray of light where there is darkness.

David P. Steensma, MD, FACP, is a physician in Dana-Farber’s Hematologic Oncology Treatment Center.

Genetic counseling now recommended for children with sarcoma


If your son or daughter has been diagnosed with a type of sarcoma – a tumor in connective tissue like muscles or bones – there are many questions: Will my child make a full recovery? What are the immediate and long-term side effects of treatment?

Most parents don’t consider whether their child will face a second cancer later in life.

However, a link between sarcomas and Li-Fraumeni syndrome, a rare condition that raises a person’s risk of developing one or more cancers to as high as 85 percent, has led genetic specialists at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center to recommend that all child sarcoma patients be offered genetic counseling for Li-Fraumeni syndrome.  Read more

The most talked about cancer stories of 2011


The face of cancer care in 2011 changed in encouraging and – in some cases – challenging ways. Here are some of the cancer stories that captured the most press attention in 2011.

  1.  A federal task force recommended against routine testing of healthy men for the prostate-specific antigen (PSA), which can be a sign of prostate cancer. However, Dana-Farber’s Philip Kantoff, MD, called the message “misguided” and said that oncologists are using the test to find those who may benefit from screening and treatment.

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How to tell your boss you have cancer


Part of dealing with a new cancer diagnosis involves deciding how to let those around you know what’s happening. While you’ll probably want your loved ones to know about your diagnosis and treatment, deciding whether to tell your employer can be a more challenging process.

Here are some tips if you’re weighing the decision to share your cancer diagnosis at work.
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Will a bald Barbie help kids cope with cancer?


The side effects of chemotherapy can create anxiety and uncertainty for any patient, but for young children, it can be overwhelming. A group of parents – that now counts thousands of supporters – is hoping that their call for a new bald Barbie will help.

Cori Liptak, PhD, a psychologist in the Pediatric Psychosocial Oncology Program at Dana-Farber/Children’s Hospital Cancer Center, is part of a team that helps young patients manage pain and anxiety through play and behavioral therapy. She shared her thoughts on the subject during a recent interview with NBC.

Tell us what you think. Would a bald Barbie help young children cope with cancer?

Click on the image below to watch the news story from KSN Channel 3 (video will open in a new window).

Obesity and cancer: What’s the link?


There are a lot of good reasons not to gain too much weight, but you might not be aware of this one: Growing evidence links obesity to a higher risk of developing cancer, and being overweight may worsen a cancer patient’s outlook.

Although more and more studies are finding this connection, scientists haven’t uncovered the biological mechanisms by which excess pounds make normal cells more likely to turn cancerous. But they are pursuing a large number of leads, some of which may uncover new ways of fighting cancer – including losing weight.

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Adult stem cells may hold key to better health


Sarah Knauss, famous for being among the oldest people in the world until her death at the age of 119, might have had more than just “good genes.” Dana-Farber’s Wayne Marasco, MD, PhD, says that adult stem cells – known for their healing and regenerative properties – might hold the key to a long and healthy life.

Marasco shared his expertise on the subject at the recent International Vatican Conference on Adult Stem Cells in Vatican City, Italy, an event attended by a select group of cardinals, clergy, and leading researchers and physicians from around the world.

“We have learned in the past 10 years that there are all kinds of stem cells that circulate in the blood – they aren’t just found in bone marrow,” said Marasco, of Dana-Farber’s Department of Cancer Immunology and AIDS. “There are dozens of studies that support the fact that this is a large and dynamic population of cells that might help us keep our bodies healthy for a longer period of time.” Read more

What do you say when a friend has cancer?


A year ago today, I went to see my doctor about a lump that was growing scarily fast inside my mouth. Twelve days later, I was in a hospital bed with a cocktail of chemo drugs moving through an IV in my arm.

Over the next few weeks, I adjusted to the fact that I had squamous cell carcinoma; that it was most likely curable; and that I had a long road of chemotherapy and radiation ahead.

But one thing I couldn’t get used to was telling people I had cancer.

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HPV linked to head and neck cancer


Traditionally, patients with oral cancers tended to be older individuals with a long history of smoking and heavy alcohol use. In the past decade, however, that picture has changed dramatically.

Today, infection with the human papillomavirus (HPV) is the leading cause of oropharyngeal cancer in the U.S. and Western Europe. Oropharyngeal cancers affect the back of the throat (i.e. the tonsils and base of the tongue). HPV is the same virus that causes most cases of cervical cancer in women.

Patients with HPV-related head and neck cancers are often relatively young, not heavy drinkers or smokers, and come from all segments of society.

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