Sarcoma in Li-Fraumeni Syndrome 2018

1969, SOFT TISSUE SARCOMAS, BREAST CANCER- A FAMILY SYNDROME?

In 1969, Dr. Joseph Fraumeni and Dr. Frederick Li were working at the National Institutes of Health when they noticed four families with two children who had sarcomas. Three families had two siblings, one family had two cousins with sarcomas. Beyond that rare occurrence, 3 of the mothers of the children had breast cancer. Further study found 24 kindreds with lots of cancer, which they labelled SBLA(Sarcoma, Breast, Leukemia, Adrenal) Syndrome, now known as Li-Fraumeni Syndrome.

 

 

 

SARCOMAS MAKE UP 25% OF ALL LFS TUMORS.

Sarcomas are considered rare- which is to say they make up less than 1% of all cancers in the general population. Sarcomas make up about 25% of all LFS tumors- but everything, including rarity is relative in a rare cancer syndrome. Unlike most other tumor types- sarcoma is not limited to one region of the body. This is partially what makes sarcomas so difficult to recognize, diagnose, screen, and treat.  They can be hard, soft, painful, pain-free, slow growing or really aggressive. You can find sarcomas in bones, muscles, fat, or connective tissue(blood vessels, nerves, cartilage). They can appear at any age.

THERE ARE OVER 50 TYPES OF SARCOMA, MANY WITH SUBTYPES.

There are over 50 types of sarcoma. Many sarcomas are identified by where they are found or the cell type- Rhabdomyosarcoma(striated muscle), Liposarcoma(fatty tissue- often mistaken for cysts), Leiomyosarcoma(smooth muscle), Osteosarcoma(bone), OR  chondrosarcoma(cartilage). You may have had or known someone with a sarcoma if you recognize the terms: Malignant Fibrohistiocytoma(sometimes referred to as pleomorphic sarcoma), Myxoma,  or Gastrointestinal Stromal Tumor- also sarcomas. This makes sarcomas difficult to diagnose. Consulting with sarcoma specialists and getting second opinions for diagnosis and treatment are encouraged.

96% of LFS SARCOMAS DEVELOP BEFORE AGE 50.

The average age of sarcoma diagnosis in LFS is 16 years old. Certain sarcomas are seen more frequently at certain age ranges, although they can and do appear anywhere at any age. For example, Rhabdomyosarcomas are diagnosed more often at age 5 and under, Osteosarcomas are more often seen at ages 20 and under and liposarcomas and leiomyosarcomas are both more frequently seen after age 20.

RISK OF RADIATION INDUCED SARCOMAS IS MUCH HIGHER IN LFS.

LFS mutants have radiation sensitivity. This means that radiation can cause damage to our genes that mutant p53 cannot fix. To avoid genotoxic damage, we try to avoid radiation where possible. This can be problematic for screening, diagnosis and treatment. Scans such as X-ray and CT use different amounts of radiation, but can see certain tissues better than MRI or ultrasound, which don’t use radiation. Radiation therapy, which is a standard of care for many cancers, is problematic with LFS. Sarcomas in general are tough to treat, so we try to avoid radiation if we can, but we have to treat the cancer we have with whatever arsenal is at our disposal. As we say in our support group- You have to fight the shark closest to the boat. 

WHOLE BODY MRI, SCREENING AND DOUBT.

Recently there is more support scientifically for using Whole Body MRI(WB-MRI) to screen for tumors in LFS. Although this method can be cumbersome and expensive- there are not many alternatives to sufficiently cover the whole body risk of sarcoma without radiation exposure. There is the risk of false positives, stress and more tests. There is also the chance tumors will be caught early enough to get out before they metastasize. Another one of our favorite sayings in the support group is When in doubt, cut it out.  We are a lumpy, bumpy bunch. We grow weird. Not everything is cancer. Sometimes it’s easier to cut out the little lumps than worry about what they might become. We use the 2-week rule as an unofficial time frame to know when something should be looked at. The other recommendation from those with experience is to get second opinions, on pathology, on treatment, on everything sarcoma, from sarcoma specialists. Second opinions can help you make the best decision for you.

 

Where to get more information on Sarcomas:
Sarcoma Alliance

Sarcoma Foundation of America

Rein in Sarcoma

International Sarcoma Kindred Study

 


The Ride by Linda Zercoe

The Ride
By Linda Zercoe
July 5, 2013
 
I live in beautiful California about 35 miles east of the great city of San Francisco. About two and one-half hours from my home is the famous coastal community of Santa Cruz. It is here where people go to the beach from my town and many have summer ‘cottages’. While still being cold for my taste, there are the familiar landmarks: put-put golf, burger stands, soft ice cream stops, boogie boards, bike rental shops and even kites in flight.
What makes Santa Cruz almost seem like the good old days for me is that they have a boardwalk. In NJ were I spent my childhood, in the summers we went to the Atlantic City, Ocean City, and Seaside boardwalks. Instead of having the salt water taffy that I love, Santa Cruz has a large, long and incredible roller coaster that dates all the way back to 1924. It is now a National Historic Landmark and is constructed of white wood with red tracks. Having survived the Loma Prieta earthquake of 1989, it still sits on the Santa Cruz boardwalk and loops with a beautiful and infinite view of the ocean and the western horizon.
Our family went to the Santa Cruz boardwalk for the first time and rode the infamous roller coaster shortly after moving to California in August of 1993. I was just 36, married and our daughter was 12 and son, 3. My husband took our son to the kiddie rides and Kim and I decided to ride the roller coaster. The advertisement for the roller coaster was on a billboard high above and said in big bold letters:
The Ride of a Lifetime!!!
Experience Ultimate Terror!
Perils at Every Turn!
Thrills Beyond the Imagination!
We Dare You to Find a Better Ride Anywhere!
While queuing for what seemed like hours to ride the roller coaster, little did I know that with the frequency of the riders getting on and off the ride, cancer cells were dividing in my left breast. Soon enough it was our turn to board the six-car roller coaster. Excited but nervous, we buckled our seat belts in the third car, looped our arms together, smiled at each other, shrugged our shoulders and then tic…, tick.., ticked-out of the station while we settled in. Looking straight up I noticed that the twists and turns of the painted white rails and red tracks looked almost like very large versions of the strands of DNA. But instead of just the double helix twist, there were loops and long length sections jammed and compacted together to elicit maximal thrills.
I was diagnosed with my first breast cancer just after the roller coaster came through the opening tunnel and made its first slow but moderate ascent, then plateaued for a while before making its way through the labyrinth of tracts. Before it began its next higher ascent, I had a mastectomy but required no further treatment. I scratched my head and felt some anxiety as the cars slowly crept up and up, as if coming out of a very deep mine with a clink, clink, clink, clink, clink.
After the coaster hit the top of the next higher peak and we flew down screaming at the top of our lungs, I was diagnosed just 1½ years later with metastasized breast cancer in the other breast. Now the roller coaster was flying around turns, banking the curves, as Kim, now an adolescent, and my body slammed into each other. Our faces changed to odd colors. I was retching as we made the next up and down of the course. Then all my hair blew away. I observed that plenty of people were puking on the ride and we had only just started! One thrill at a time, I thought, one thrill at a time. I started getting burned from the strong rays of the sun reflecting off the ocean.
But the ride continued on with many sudden and abrupt forks in the track. Kim and I jerked to and fro while I was bruised and banged, even cut and bleeding, as I was diagnosed with tumor after tumor every 2 years, rare but benign, always requiring surgery. I looked over at Kim. She had tears streaming down her face.
Is she hurt? I wondered.
Is that from the ocean wind?
I started to get angry.
When is this ride going to be over? I asked myself.
I thought, Well you wanted to be on this ride, didn’t you?
You have only yourself to blame.
You can only keep going forward.
Then I remembered that the climax of the ride and the mini-thrill at the end was still ahead!
We were just making our ascent to the highest peak of the ride when I was diagnosed with pancreatic cancer. Not quite at the top, the cars slowed to almost a complete stop.
We collectively held our breath as we tipped over the crest and then… with great force hurtled out over and around a loop that seemed to be over the ocean with nothing holding us up—time stood still.
The possibility of being flung into oblivion and the fear of death was fully present. But then as my hair was partially lost for the second time, the cars flattened out on the tracks and slowed down for a few more ups and downs, bringing relief and a slow return to a normal heart rate. Soon more tumors were diagnosed, including benign bilateral parathyroid adenomas and then an adenocarcinoma of the lung. This was the 4th primary cancer and the 7th & 8th benign tumors. I was REALLYgetting sick of this ride.
Through a blur of tears that were now trickling out of the corner of my eyes, I briefly saw down below on the ground, my husband and our son, who by this time were long done with the kiddie rides. They appeared much older than when we boarded this ride and both had the look of horror on their faces as they watched the spectacle flying past.
Then the cars started speeding up again and were flying fast, when, with a hard jerk and the high pitched screams of the riders and the screeching sounds of metal grinding and heaving against metal, the first car in our train went off the track and was left partially hanging in space. Some people from the front of the first and the second car went flying out of the cars as if shot out of a cannon, and were quietly swallowed up by the ocean.
I looked around, not able to comprehend the horror I had just witnessed. But then I turned to Kim. Oh, my God! Kim was hanging over the side of our car by the tips of her fingers. I screamed for help until people came, while hanging on to her with all of my will and strength in the meantime. Kim, was now 28, and had already spent 16 years on this ride, was then wheeled into an operating room and came back to us without an 8cm tumor but with a diagnosis of leiomyosarcoma, Stage III.
The team of people helped pull her back into the car. And while I was so relieved, I felt dead. I looked around again, wondering, “How could this be?”
Something must be wrong with this ride! I determined, and I decided I was going to find out what the problem was. I didn’t fail to notice that Kim and I had left marks on each other’s arms where our fingernails dug into each other in utter terror. It was strange how that didn’t even hurt.
After the first car was put back on the rails, the air changed. I could sense that all the remaining people in the cars where different than when we started. We had just been on the same ride and had a similar experience: the ups and downs, the thrills, the victories and disappointments, the trauma and the near-death experiences, bruises, scars, even witnessing real death.
Looking around in disbelief, I noticed that pieces of the tract were missing in various places I could see, critical pieces I surmised. Suddenly with a loud electrical buzz accompanied by blaring brightness, above us the Roller Coaster’s name was all lit up in thousands of little bright white bulbs on a sign that said:
The Li Fraumeni Syndrome
The World’s Greatest Roller Coaster
What kind of name was that? I thought. I looked over to my left and down toward the ground, out by the line of people waiting to get on. Nearby, a lit up billboard had a list of warnings in bold red letters. I read:
1.        YOU AGREE THAT BY BOARDING THIS RIDE THAT YOU AND YOU ALONE ARE TAKING FULL RESPONSIBILTY!
2.        LI AND FRAUMENI WILL NOT BE HELD LIBEL FOR ANY PHYSICAL INJURY OR PSYCHOLOGICAL HARM AS A RESULT OF YOU BOARDING THIS RIDE!
3.        PARENTS – YOU ARE RESPONSIBLE FOR YOUR CHILDREN!
4.        PROCEED WITH CAUTION!
5.        WE ARE NOT RESPONSIBLE FOR ANY LOSSES OF BELONGINGS OR BODY PARTS – WATCH YOUR FINGERS!
6.        BY BOARDING THIS RIDE YOU ARE AGREEING TO THE AFOREMENTION TERMS SET FORTH SO HELP YOU GOD!
I didn’t remember seeing that sign before we got on the ride. I didn’t agree to these terms. I was just so excited to get on the ride; I guess I didn’t notice that it could be dangerous, even life-threatening!
Due to the intricacies and the nature of the track, I realized then that we couldn’t get off the ride other than to ride it to its conclusion. Everyone was utterly exhausted but happy to be alive especially in the last four cars. People in the first two cars were quietly grieving, having lost family members to the sea.
Once again, in unison, all of our bodies rocked forward and backward as the cars started up and moved around another bend and then began another upward climb. At the top I saw a sign that said ‘WARNING’ and had another surgery for the 2ndlung cancer, the 5th primary. This time I noticed coming down from the top wasn’t as hard, maybe because I already knew all that I had been through, Kim had been through and we were still breathing, still alive.
All of the people on this coaster were now bonded in a special way: just for having shared such a ride. We were together for each other for all the twists and turns, we moved as one, careening back and forth, up and down. I looked at each of the rider’s heads in front and faces behind, thinking, me and the Li Fraumeni and you and you and you and you.…….How many of us were there?
Someday when I finally do reach the end of the track, I hope to say “Wow! What a Ride!” Most certainly it was not the ride I expected, nor what anyone else expected while we waited to board that roller coaster.
Just imagine, people wanting to pay to ride that roller coaster. I’ve since been back to Santa Cruz but I refuse to willingly go on that ride again.
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Linda Zercoe is the author of the soon to be released memoir A Kick-Ass Fairy
 – You can follow her on twitter @lindazercoe for book updates.
 – She also posts news on cancer research and commentary on twitter @thecancerian1
 -She hosts a new blog called “The Cancerian| Reporting from The Nation of Cancer” at www.thecancerian.org where you can sign up to be a member of the Nation of Cancer and follow her blogs.
–  Her website for personal stories and her book release is at www.lindazercoe.com.