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Memorial Sloan Kettering

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Body tissue belonging to James Nielsen, 17, who died in July, could prove helpful for researchers of aggressive, rare form of cancer

James Nielsen, 17, of Port Jefferson Station, while on a family trip in Tennessee to see the solar eclipse in 2017, just weeks before he and his family learned he had cancer. Photo from Steven Nielsen

Making sense of loss is never easy, though a Port Jefferson Station family has drawn strength from their 17-year-old son’s bravery and desire to help others, even in his last days.

“Bad things happen to people and this just happened to happen to me, and we’re just going to do the best we can with it,” James Nielsen told his father Steven when they learned the 17-year-old had been diagnosed with a form of cancer so rare and devastating only one documented case of survival exists.

James Nielsen, 17, of Port Jefferson Station, after becoming an Eagle Scout. Photo from Steven Nielsen

The Comsewogue High School student was diagnosed with NUT midline carcinoma in December 2017, an aggressive form of cancer akin to a death sentence. Despite the devastating prognosis, the Eagle Scout from Troop 454 engaged in rare, barely fleeting moments of despair, according to his parents, even spending the day he died — July 16, 2018 — playing UNO card games and watching the World Cup.

James’ form of cancer is characterized by tumors that form in bones or soft tissue. No effective treatment for NMC exists, there are no guidelines, and current approaches to treatment are based on discussions among a few oncologists who each have had a single experience treating this disease, according to the writings of Dr. Christopher French, a pathologist researching NMC at Dana-Farber/Harvard Cancer Center in Boston, who also advised James’ family after his diagnosis.

“The cancer type that he had is extremely rare and he has a yet even rarer variant of that cancer,” French said in a phone interview. “His tumor was really quite unique. It had a different gene, a variant that is extremely uncommon.”

In late August 2017, upon arriving at cross-country team practice at Comsewogue, James’ mother Jean Nielsen said she noticed a sizable lump on her son’s leg. She said he brushed off her concern, went to practice, and even ran an additional mile when he got home. That night, she had her husband Steven Nielsen examine James’ leg. He said it looked swollen but not necessarily alarming, but when he touched the tumor it was rock solid. A trip that same night to a walk-in medical clinic led to a visit to Stony Brook University Hospital, and by that weekend the family knew their oldest child of four had cancer.

Initially doctors believed he had Ewing’s sarcoma, a diagnosis with a far higher survival rate and clearer treatment options than NMC. In the early stages of his battle, James’ mother said she wrote “treatable and curable” on the first page of a journal the family kept pertaining to his illness. James began what was expected to be a 10-week cycle of chemotherapy, but by the second week of October 2017, it became clear the tumor wasn’t responding to treatment, and immediate surgery would be necessary.

At about 10 p.m. Oct. 12, 2017, just six hours before he was scheduled to head to Manhattan for surgery at Memorial Sloan Kettering Cancer Center, James’ surgeon called and informed his parents there was a possibility he would need to remove their son’s entire leg, and not just portions of the thigh muscle and femur as initially expected.

“I’ll never forget, he looked at us, he sat silent for a moment, and he goes, ‘OK — we’ll do what we have to do,’” James’ father recalled. “And then it was pretty much, ‘Good night.’”

During hour 17 of a 20-hour surgery, the Nielsens were finally informed James would be able to keep his leg.

A positive outlook is often cited as essential in situations like James’, and for the Nielsens positivity flowed on a two-way street.

James Nielsen rides around Manhattan on Thanksgiving night 2017 after undergoing a round of chemotherapy. Photo from Steven Nielsen

“I guess we’ve always just kind of been in the place like, ‘It doesn’t help’ — letting your head spin and certainly getting overwhelmed by emotion — you have to kind of keep everything together for him,” Steven Nielsen said. “He made us so strong. We made him strong, but he led the way.”

Being able to salvage his leg was a small, yet short-lived victory. By December, doctors were finally able to pinpoint his diagnosis. Staring down a cancer with such long odds of survival precipitated an unusual response from the Nielsens — a trip to Disney World.

“We didn’t let it control us, we controlled it,” the father said. Self-pity was never in James’ vernacular. “We were never naive about the possibilities of what could happen, but we also, all of us, really felt that it wasn’t worth putting your energy there. Put energy toward your cure. And so we lived life that way.”

The family dedicated their son’s last months to embracing life, spending Thanksgiving evening perusing Manhattan after an eight-hour round of chemo, looking at stores on Madison Avenue, a night his father remembered as “magical.” They visited a ranch in upstate New York just weeks before his death, one of James’ favorite places to vacation. They went to the beach.

While their focus was getting the most of their time remaining, James’ parents were far from ready to give up the fight. Feeling like their experience at Memorial Sloan Kettering left something to be desired, Steven Nielsen did some research that led him to French. James participated in some clinical trials and spent time at the Boston facility, where he and his father even managed to find time to explore the city and visit colleges with notable pharmacy programs, a field in which James had expressed a future interest.

The father’s dogged pursuit of answers for his son led French to mistakenly call him “doctor” during one of their numerous correspondence.

“He wrote in a way that made me think that he knew quite a bit about medicine, I just assumed he was a physician,” French said, laughing. Both Nielsens are teachers in the Comsewogue district.

French is hoping to soon be provided with donated tissue from James for the purpose of research, one of the teen’s dying wishes. His will be the first cancer cell line, which are living cancer cells used for research, with NMC that French will have been able to get his hands on, an essential gift if there’s any hope for untangling the mysteries of the cancer form.

“The tissue that he donated at his autopsy for research was priceless, and potentially a very valuable tool to perform research with,” French said. “He was just a sweet individual. It tore my heart out when I met him very briefly … It was quite riveting to meet him just sort of knowing the truth, that this was likely to not go well.”

For James the decision to donate tissue for research was reflexive and required about two minutes of thought, according to his parents. The teen was known for reusing Dixie cups and napkins because of his aversion to creating waste.

The Nielsen family goes pumpkin picking shortly before he underwent surgery in Oct. 2017 to remove a tumor from his right leg. Photo from Steven Nielsen

“For him it was just what you do — he didn’t think it was a big deal,” his mother said. “What we look to as heroic or whatever is not really that heroic. Sometimes unassuming people are the most heroic, not people who are very vociferous.”

She said the family can take some comfort in knowing there’s a possibility James’ struggles could lead to a better future for someone else.

“I think if you believe everyone has a purpose, you’d like to think such a horrible result would end with something purposeful, like contributing toward the cure for other people,” the father said. “For us to have him taken away, you hope that that’s the reason.”

The Nielsens expressed gratitude for the support and well wishes they’ve received from the community. Some of James’ classmates have taken up fundraising efforts to get a memorial built in downtown Port Jefferson. Members of the school’s marching band wore pins honoring their fallen peer at the homecoming football game this month. Still, his parents stressed James was not interested in pity or ritualistic gestures of remembrance.

“He was very kind, very sweet, very familial — old kind of qualities that aren’t maybe appreciated as much these days,” his mom said when asked how she hoped he’d be remembered. “He was very selfless.”

To donate to aid in NMC research visit http://www.myjimmyfundpage.org/give/nmcregistryfund.

Escobar-Hoyos, center, holds her recent award, with Kenneth Shroyer, the chairman of the Department of Pathology at Stony Brook on the left and Steven Leach, the director of the David M. Rubenstein Center for Pancreatic Cancer Research on the right. Photo by Cindy Leiton

By Daniel Dunaief

While winter storm Niko in February closed schools and businesses and brought considerable precipitation to the region, it also coincided with great news for Luisa Escobar-Hoyos, who earned her doctorate from Stony Brook University.

Escobar-Hoyos, who is a part-time research assistant professor in the Department of Pathology at Stony Brook University and a postdoctoral fellow at Memorial Sloan Kettering Cancer Center, received word that she was the sole researcher selected in the country to receive the prestigious $600,000 Pancreatic Cancer Action Network–American Association for Cancer Research Pathway to Leadership Award.

When she heard the news, Escobar-Hoyos said she was “filled with excitement.” After she spoke with her husband Nicolas Hernandez and her current mentor at MSKCC, Steven Leach, the director of the David M. Rubenstein Center for Pancreatic Cancer Research, she called her parents in her native Colombia.

Her mother, Luz Hoyos, understood her excitement not only as a parent but as a cancer researcher herself. “My interest in cancer research started because of my mom,” Escobar-Hoyos said. Observing her example and “the excitement and the impact she has on her students and young scientists working with her, I could see myself” following in her footsteps.

The researcher said her joy at winning the award has blended with “a sense of responsibility” to the growing community of patients and their families who have developed a deadly disease that is projected to become the second leading cause of cancer-related death by 2020, according to the Pancreatic Cancer Action Network, moving past colorectal cancer.

The Pancreatic Cancer Action Network has awarded $35 million in funding to 142 scientists across the country from 2003 to 2016, many of whom have continued to improve an understanding of this insidious form of cancer.

David Tuveson, the current director of the Cancer Center at Cold Spring Harbor Laboratory, received funds from PanCan to develop the first genetically engineered mouse model that mimics human disease. Jiyoung Ahn, the associate director of the NYU Cancer Institute, used the funds to discover that two species of oral bacteria are associated with an over 50 percent increased risk of pancreatic cancer.

Over the first decade since PanCan started awarding these grants, the recipients have been able to convert each dollar granted into $8.28 in further pancreatic cancer research funding.

In her research, Escobar-Hoyos suggests that alternative splicing, or splitting up messenger RNA at different locations to create different versions of the same protein, plays an important part in the start and progress of pancreatic cancer. “Her preliminary data suggest that alternative splicing could be associated with poorer survival and resistance to treatment,” Lynn Matrisian, the chief science officer at PanCan, explained in an email. “The completion of her project will enhance our understanding of this molecular modification and how it impacts pancreatic cancer cell growth, survival and the progression to more advanced stages of this disease.”

Escobar-Hoyos explained that she will evaluate how mutations in transcriptional regulators and mRNA splicing factors influence gene expression and alternative splicing of mRNAs to promote the disease and aggression of the most common form of pancreatic cancer. Later, she will evaluate how splicing regulators and alternatively spliced genes enriched in pancreatic ductal adenocarcinoma contribute to tumor maintenance and resistance to therapy.

Escobar-Hoyos will receive $75,000 in each of the first two years of the award to pay for a salary or a technician, during a mentored phase of the award. After those two years, she will receive $150,000 for three years, when PanCan expects her to be in an independent research position.

Escobar-Hoyos said her graduate research at Stony Brook focused on ways to understand the biological differences between patients diagnosed with the same cancer type. She helped discover the way a keratin protein called K17 entered the nucleus and brought another protein into the cytoplasm, making one type of tumor more aggressive.

While Escobar-Hoyos works full time at Memorial Sloan Kettering, she continues to play an active role in Kenneth Shroyer’s lab, where she conducted experiments for her doctorate. She is the co-director of the Pathology Translational Research Laboratory, leading studies that are focused on pancreatic cancer biomarkers. The chair in the Department of Pathology, Shroyer extended an offer for her to continue to address the research questions her work addressed after she started her postdoctoral fellowship.

“When you do research projects and you develop them from the beginning, they are like babies and you really want to see how they evolve,” Escobar-Hoyos said. Numerous projects are devoted to different aspects of K17, she said.

Shroyer said Escobar-Hoyos had already been the first author on two landmark studies related to the discovery and validation of K17 even before her work with pancreatic cancer. “She has also conducted highly significant new research” that she is currently developing “that I believe will transform the field of pancreatic cancer research,” Shroyer wrote in an email.

Shroyer hopes to recruit Escobar-Hoyos to return to Stony Brook when she completes her fellowship to a full-time position as a tenure track assistant professor. “Based on her achievements in basic research and her passion to translate her findings to improve the care of patients with pancreatic cancer, I have no doubt she is one of the most promising young pancreatic cancer research scientists of her generation,” he continued.

Yusuf Hannun, the director of the Stony Brook Cancer Center, said Escobar-Hoyos’s work provided a new and important angle with considerable promise in understanding pancreatic cancer. “She is a tremendous example of success for junior investigators,” Hannun wrote in an email.

Escobar-Hoyos said she is hoping, a year or two from now, to transition to becoming an independent scientist and principal investigator, ideally at an academic institution. “Because of my strong ties with Stony Brook and all the effort the institution is investing in pancreatic research” SBU is currently her first choice.

Escobar-Hoyos is pleased that she was able to give back to the Pancreatic Cancer Action Network when she and a team of other friends and family helped raise about $4,000 as a part of a PurpleStride 5K walk in Prospect Park earlier this month.“I was paying forward what this foundation has done for me in my career,” she said.

Matrisian said dedicated scientists offer hope to patients and their families. “Researchers like Escobar-Hoyos spark scientific breakthroughs that may create treatments and ultimately, improve the lives of patients,” she suggested.

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