Alex (not real name) is 23 years old. He was born with a certain nerve disorder. His right arm had many benign lumps. When he was 11 years old, his right palm started to swell. He could not write with his right hand anymore.
Alex underwent a debulking surgery — the lumps were removed. He was told that it was not cancerous. Later in September 2013, there was a swelling in his right arm pit. The mass grew bigger and became painful.
A CT scan in January 2014 indicated:
- A large axillary mass — malignancy needs to be considered. The right subclavian, axillary and brachial arteries pass above and lateral to this mass.
- No evidence of lung or mediastinal metastasis.
A true-cut biopsy was done and indicated:
- High grade spindle cell sarcoma favouring malignant peripheral nerve sheath tumour.
Alex underwent an operation to remove this entire right upper limb. Below is the surgeon’s note indicating the extensiveness of the surgery.
Histopathology confirmed a malignant peripheral nerve sheath tumour (T2bNoMo), Stage 3.
After the surgery Alex received 32 times of radiation treatment. There was no other medication.
Barely six months later, August 2014, the cancer spread to his lungs. Alex underwent 3 cycles of chemotherapy. The treatment was not effective. Alex again had more chemo — 12 cycles in all. The drugs used were Gemzar and Cisplatin.
In February 2015, follow up examination showed:
- Mixed response of the lung nodules. Some nodules are smaller but some previously small ones are larger.
- A new nodule seen in the left upper lobe adjacent to the left 4th rib.
Chemotherapy did not help control his lung metastasis. Alex decided to give up medical treatment and came to seek our help.
It is indeed a sad story. As we talked to Alex, we had full admiration for his determined spirit. No, he did not sulk in spite of the fact that he had gone very rough patches since he was born. When he was not able to write with his right hand, he learned to write with his left. He attended university in Australia. When asked if there was anyone taking care of him there, he replied, No, I took care of myself. When medical treatment failed him, he said he wanted to try another way. There was no sign of bitterness in his voice. And he was determined to live.
Internet information about malignant peripheral nerve sheath tumour
Malignant peripheral nerve sheath tumors — MPNSTs (also called neurofibrosarcomas):
- are a type of cancer that occurs in the protective lining of the nerves that extend from the spinal cord into the body.
- can occur anywhere in the body, but most often occur in the deep tissue of the arms, legs and trunk.
- tend to cause pain and weakness in the affected area and may also cause a growing lump or mass.
- occur more frequently in people with an inherited condition that causes nerve tumors (neurofibromatosis) and in people who have undergone radiation therapy for cancer.
- are aggressive, locally invasive soft tissue sarcomas, typically presenting as a rapidly growing and painful lump.
- these tumours account for up to 10% of all soft tissue sarcomas.
- a common cause of nerve sheath tumors is neurofibromatosis type 1 (NF1).
- Evans et al. estimate the lifetime risk of developing MPNSTs in the population of patients with NF1 to be as high as 13%.
- a very rare tumor, with an incidence of 1 per 1,00,000 population.
- these tumors may arise spontaneously in adult patients, although 5% to 42% of MPNST have an association with multiple neurofibromatosis Type-I
- are rare sarcomas with one of the poorest prognoses of all the soft tissue sarcomas.
- information about adjuvant treatment is scarce.
- NF1 is an autosomal dominant condition with a birth incidence of about 1 in 2500 and a prevalence of 1 in 4000.
- A peripheral nerve sheath tumor (PNST) is a neoplasm arising from a peripheral nerve.
- All ages and both sexes may be affected by PNSTs.
- Sporadic MPNSTs are most common between 40 and 50 years of age, while those occurring in the setting of NF1 are diagnosed some 10 years earlier.
- Peripheral nerve tumors are uncommon and many neurologists will see only a handful in their careers, unless they have a practice enriched in patients with neurofibromatosis.
- The role of chemotherapy in advanced malignant peripheral nerve sheath tumor (MPNST) is unclear.
- MPNSTs are highly aggressive in NF1. Conventional chemotherapy does not seem to reduce mortality, and its role must be questioned.
- The recommended treatment of this type of sarcoma is the surgical extirpation including wide margins and complementary radiotherapy.However, the prognosis is poor. http://www.sciencedirect.com/science/article/pii/S174194090500004X
- Malignant peripheral nerve sheath tumors are rare soft tissue sarcomas. They are considered to carry a poor prognosis with current therapeutic approaches.
- Malignant peripheral nerve sheath tumors (MPNST) are uncommon, biologically aggressive soft tissue sarcomas of neural origin that pose tremendous challenges to effective therapy.
- Prognosis is generally poor, with high rates of relapse following multimodality therapy in early disease, low response rates to cytotoxic chemotherapy in advanced disease, and propensity for rapid disease progression and high mortality.
- MPNSTs comprise ∼2% of all sarcomas, a small fraction of a group of cancers that affect 5 people per million per year.
- Whereas MPNST may arise at any age with no gender predilection, it tends to present earlier in life than most other complex sarcomas.
- Half of MPNSTs are associated with neurofibromatosis type 1 (NF1), the autosomal dominant condition that, affecting 1 in 3000 live births, represents the most common human cancer genetic predisposition syndrome.
- The lifetime risk of developing MPNST in a patient with NF1 syndrome is 8%–13%.
- In general, MPNST is known to have high metastatic potential and poor prognosis.
- As is the case with all soft tissue sarcomas, complete surgical extirpation with clear margins is the treatment of choice.
- In the case with most large (>5 cm) high-grade limb sarcomas, adjuvant radiation is advocated to reduce local recurrence. The risk-benefit profile of adjuvant radiation in patients with NF1 must be carefully discussed with all patients in view of the heightened risk of radiation-induced sarcomas.
- There are no randomized data examining adjuvant chemotherapy specifically in MPNST.