Molecular Studies Provide New Clues about Rare Soft Tissue Sarcoma

Pictured: Ping Chi

Physician-scientist Ping Chi

A recent Memorial Sloan Kettering study suggests new ways to control malignant peripheral nerve sheath tumors (MPNSTs), a rare, aggressive type of soft tissue sarcoma. The primary treatment for these tumors, which form in the connective tissue around the nerves, is surgery. But when surgery is not feasible due to the location of the tumor, or because it has spread to other parts of the body, few options are available.

The investigators analyzed the genetic changes in these tumors and made discoveries that may lead to both more-accurate diagnoses and new treatments for the disease — as well as treatments for other cancers that may be driven by similar genetic changes. The study was published recently in Nature Genetics.

Looking for Biomarkers

MPNSTs are difficult to diagnose accurately because the tumors tend to be histologically diverse, meaning they can look very different from each other under the microscope. Adding to this diversity, the tumors often have complex rearrangement of their chromosomes. There are also a lack of biomarkers — molecules that can be measured in tumors to help diagnose disease.

“Therefore, our findings really surprised us,” says MSK physician-scientist Ping Chi, the study’s senior author. “We found that despite all of the clinical and histopathological differences between these tumors and the complex chromosomal rearrangements, this is actually a relatively ‘pure’ disease, with the majority of them having the same three central tumor suppressor pathways inactivated.” Tumor suppressor pathways are biochemical processes in cells that prevent tumors from forming; when inactivated, they can lead to cancer.

Back to top

Potential for Targeted Therapies

Now that the investigators understand more about the genetic changes inside these tumors, they have a diagnostic biomarker that can be used for more accurate diagnosis going forward. There are also therapeutics already in clinical and preclinical development that address these particular genetic changes.

“Future therapies that focus on these pathways may benefit not only patients with MPNSTs but also other patients who have diseases associated with similar genetic changes, including pediatric glioma brain tumors and certain kinds of acute lymphocytic leukemia that preferentially inactivate one of these pathways,” says Dr. Chi, who is a medical oncologist and a researcher in the Human Oncology and Pathogenesis Program.

Back to top

This research was supported by the National Institutes of Health, a Harry J. Lloyd Trust–Translational Research grant, a Charles H. Revson Senior Fellowship, Jubiläumsfonds of the Oesterreichische Nationalbank, the Sidney Kimmel Foundation, and Cycle for Survival.


Commenting is disabled for this blog post.

My 2 years old niece has this disease (malignant triton tumor) in her spine. Surgery has already been done but only 80% of the tumor was rescted. Is there already any cure for it? Is there any hope for her to be cured?
Thank you

Dear Arian, we are sorry to hear about your niece’s diagnosis. Unfortunately, we can’t offer personal medical advice or prognostic information on our blog.

For more information about pediatric sarcomas, including malignant triton tumors, visit

If there is interest in making an appointment for her for a consultation with one of our pediatric oncologists, please call our Department of Pediatrics at 212-639-5954.

Thank you for reaching out to us.

My dad had extensive asbestos exposure. 40 years later he was diagnosed with a malignant pleural mass suspicious for desmoplastic mesothelioma. After surgery he was told he had 4 tumors, one in diaphragm and others on pleura. The pathology stains were positive for D240 and Wt1 (possible edge effect) and atypical mesothelium cells as well as other stains which indicated sarcomatous tumors. However, rather than mesothelioma, Labcorp diagnosed him with a rare sarcoma disease. Asbestos was found on a tumor slide as well. My question is, can asbestos cause sarcoma? We feel he was misdiagnosed.

Dear Cindy, we are sorry to hear about your dad. The National Cancer institute offers this fact sheet on asbestos exposure and cancer risk, which may be of interest:

If your father would like to consult with one of our specialists for a second opinion on his diagnosis, please ask him to call our Physician Referral Service at 800-525-2225 to make an appointment.

Thank you for reaching out to us.

My husband was diagnosed wit MPNST in 2011 he had surgery and cyberknife on that on. In 2012 it came back in another place in his neck. Now it has spread to his lung. He had PET at KU and they now what to do chemo. I would like to see if we can get a second opinion on his patholagy and treatment plan with out coming there first.

Last year I was diagnosed with MPNST which located itself on my scalp. My scalp was removed thereby removing all the neurofibromatosis. A new scalp was made using muscle from my back and skin from my thigh. I am currently scheduled for my fourth skin graft since they have all failed. This time we are using Integra, hopefully with positive results.

Last year Aug. 2015 my husband was hospitalized and found to have had a large mass on his heart. It was biopsied in Oct. and he was diagnosed with stage IV Pleomorphic liposarcoma. He had surgery but was only able to remove only 80% of the tumor. He has gone through chemo and radiation. One month after treatment he was found to have another large mass (15 cm) in his left lung. They told him his only choice was to go into hospice and I guess wait to die from this tumor. We went back to the surgeon who did his first surgery and asked him to do another surgery. After a long visit he agreed but says this is a risky surgery due to it being in the left lung. Are there any new treatments for this type of cancer.

Hello! We live in upstate NY and my 7-year-old daughter was just diagnosed with an intraneural perineurioma in her peroneal nerve, which is most likely benign. We will have a biopsy to confirm.

My daughter's case presents with significant foot drop - she has no dorsiflexion - and calf muscle atrophy.

I was wondering if Sloan Kettering has any doctors who have experience in or who have researched this sort of nerve sheath neoplasm.

I have found some articles on perineuriomas by Dr. Robert A Erlandson and Dr. James M. Woodruff, both of Sloan Kettering. But I believe they are retired.

Thank you!
Sara Furlong

Dear Sara, we’re very sorry to hear about your daughter’s diagnosis. We recommend that you contact our Department of Pediatrics and talk with them about whether we have a doctor who has experience with this type of condition. You can call 212-639-5954 to speak with someone. Thank you for your comment, and best wishes to you and your family.