Malignant peripheral nerve sheath tumour of median nerve - an unusual presentation: a case report

Malignant peripheral nerve sheath tumours (MPNST) are rare tumours, which usually occur in patients with multiple neurofibromatosis. They are common in the head and neck and trunk and only a few cases have been reported in the hand. Many of these occur in patients with von Recklinghausens disease and rarely as a malignant transformation of benign schwannomas. When they appear in the hand they often present with various symptoms. We encountered a patient who presented with a longstanding asymptomatic swelling of the palm. On excision the histopathology showed a high-grade malignant peripheral nerve sheath tumour, which led us to speculate that a malignant transformation had occurred in a pre-existing benign swelling. This is reported for its unusual presentation, which, to our knowledge, has never been described previously.     

Malignant peripheral nerve sheath tumour of penis

Malignant peripheral nerve sheath tumour (MPNST) is a rare variety of soft tissue sarcoma that originates from Schwann cells or pluripotent cells of neural crest origin. They have historically been difficult tumours to diagnose and treat. Surgery is the mainstay of treatment with a goal to achieve negative margins. Despite aggressive surgery and adjuvant therapy, the prognosis of patients with MPNST remains poor. MPNST arising from penis is a very rare entity; thus, it presents a diagnostic and therapeutic challenge. We present a case of penile MPNST in a 38‐year‐old man in the absence of neurofibromatosis treated with surgery followed by post‐operative radiotherapy to a dose of 60 Gray in 30 fractions and adjuvant chemotherapy with ifosfamide and adriamycin.     

Malignant peripheral nerve sheath tumour of maxilla

Malignant peripheral nerve sheath tumour (MPNST) is a very rare entity in head and neck with high rate of recurrences and local invasiveness. This tumour is usually found in lower extremities and only 10-12% occur in head and neck region. The diagnosis is considered as the most elusive and difficult among soft tissue sarcomas because of its non specific presentation, both clinically as well as pathologically. This difficulty has now been overcome by immunohistochemistry. We report here a case of MPNST in a 50 years old male with a localized right maxillary growth.     

Malignant peripheral nerve sheath tumor of the vagus nerve in a teenager with the neurofibromatosis 1 gene mutation: a case report

Malignant peripheral nerve sheath tumors account for approximately 5% to 10% of all soft tissue sarcomas in which 25% to 50% are diagnosed in patients with neurofibromatosis 1 (NF1). Tumors are often located in the proximal portion of the upper and lower extremities and trunk, whereas cervical vagus nerve localizations are extremely rare, and the English literature is limited to isolated case reports. Malignant peripheral nerve sheath tumors usually affect adults. However, earlier presentation is described in patients with the NF1 mutation. The authors describe a very rare case of malignant peripheral nerve sheath tumor of the vagus nerve in a teenage patient with NF1 focusing on surgical management of this uncommon pathology and its histopathologic features to underline the importance of differential diagnosis and early treatment of this rare and aggressive tumor.     

Malignant peripheral nerve sheath tumor in a patient with Werner’s syndrome

Werner's syndrome is a rare autosomal recessive disorder characterized by features of premature aging. It is attributed to an autosomal recessive mutation on chromosome 8p12 where the Werner gene is located. This gene encodes a protein homologous to the RecQ-type DNA helicase, an enzyme that unwinds double-stranded DNA into single-stranded DNA. The association of Werner's syndrome with malignant tumors is widely reported in the literature. Both bone and soft tissue sarcomas have been described. We report a patient with Werner's syndrome who developed a malignant peripheral nerve sheath tumor of the left popliteal fossa.     

Malignant peripheral nerve sheath tumor of the vulva,an unusual differential diagnosis for vulvar mass

INTRODUCTION

Malignant peripheral nerve sheath tumors (MPNSTs) are rare, up to one half of the MPNSTs occur in patients with neurofibromatosis type-1 (NF-1), while the rest are sporadic. Here, we present a 52-year-old woman with MPNST of the vulva without NF-1. We will discuss basics of the disease, treatment options and follow-up strategies.

PRESENTATION OF CASE

52-year-old female admitted to our hospital with complaint of abnormal uterine bleeding and rapidly growing vulvar mass. Excisional biopsy of the mass showed MPNST of the vulva. Afterwards, the patient underwent radical vulvectomy with inguinofemoral lymph node dissection. Short after the surgery, multiple lung metastasis were shown and responded to chemotherapy, but rapid local recurrence occurred short after the completion of the chemotherapy.

DISCUSSION

The primary treatment option in MPNSTs is surgical excision with or without adjuvant therapy. There is not enough data about the role of systemic chemotherapy in the management of MPNSTs and it still remains controversial.

CONCLUSION

In general, radiation therapy has not been demonstrated to improve overall survival. Complete surgical resection of the primary tumor is the mainstay of the treatment.     

Malignant peripheral nerve sheath tumour metastasising to the parotid gland.

Two rare cases of metastases from malignant peripheral nerve sheath tumours (MPNST) of the head and neck are described. The initial lesions were superficial, but despite early diagnosis and complete excision, they metastasised to the ipsilateral parotid gland. Both underwent further complete excision and neither metastatic lesion showed progression in grade. One patient is alive, however, the other died of widespread metastases. There are no other reported cases of these sarcomas in the head and neck metastasising to the parotid gland.     

Malignant peripheral nerve sheath tumors

The rarity of MPNSTs and the lack of any singular diagnostic radiologic or pathologic signature lead to several management challenges. These tumors are best managed as part ofa multidisciplinary team so as to optimize patient care and facilitate research. Suspicion of an MPNST based on clinical or radiologic alteration of a soft tissue mass in proximity to a peripheral nerve, especially in the context of NF I, should lead to referral to such a tertiary center. Early diagnosis followed by oncologic surgery to obtain tumor-free margins provides the best chance for long-term cure. Psychologic support and occupational rehabilitation are vital components of the overall care of these relatively young patients faced with often disabling surgery. Current adjuvant therapy with radiation and chemotherapy is suboptimal. There have been major inroads toward the molecular biologic understanding of MPNSTs,with several biologic targets that are of potential therapeutic interest. Proper evaluation of these novel and promising management strategies requires a concerted effort to refer these patients to the tertiary centers through which multi-institutional clinical trials can be undertaken.     

Malignant peripheral nerve sheath tumour of the bladder associated with neurofibromatosis I

Neurofibromatosis is a hamartomatous disorder of autonomic peripheral nerve sheaths associated with peripheral nerve sheath tumours. Most tumours are neurofibromas; however, the genitourinary system is rarely involved. We present a rare case of a nerve sheath tumour of the bladder in a young patient, which was discovered to be malignant.A previously healthy 17-year-old woman presented with abdominal pain and recurrent urinary tract infections. She also had intermittent difficulty passing urine and had bilateral loin discomfort. Physical examination was unremarkable aside from fullness in the suprapubic area and skin pigmentation in keeping with her known history of neurofibromatosis 1. Laboratory investigations revealed a mildly raised creatinine of 160 mmol/L and raised inflammatory markers with an erythrocyte sedimentation rate of 80 mm/h. Abdominal ultrasonography revealed moderate bilateral hydronephrosis and a pelvic mass. Computed tomography imaging confirmed a large bladder mass and showed evidence of bilateral hydronephrosis (Fig. 1). The patient subsequently had magnetic resonance imaging of her pelvis, which revealed a very large lobulated mass within the pelvis, lying anterior to the uterus and directly involving the bladder (Fig. 2). The patient underwent surgery with cystectomy and ileal conduit formation. At pathological histology, the mass was shown to be a malignant peripheral nerve sheath tumour of the bladder wall (Fig. 3 and Fig. 4).Open in a separate windowFig. 1Postcontrast axial computed tomography image of the lobulated mass within the bladder.Open in a separate windowFig. 2Axial T₁-weighted magnetic resonance imaging demonstrating the heterogenous lobulated bladder mass (A); sagittal T₁-weighted image of the pelvis, demonstrating the extent of the heterogenous mass (B).Open in a separate windowFig. 3Corresponding gross specimen of the bladder expanded by a large white variegated and lobulated tumour, primarily based in the bladder wall.Open in a separate windowFig. 4Histological specimen that stains positive for smooth muscle actin confirming the diagnosis of malignant peripheral nerve sheath tumour (original magnification × 20).     

Malignant peripheral nerve sheath tumour of the trigeminal nerve: case report and literature review

Although all trigeminal nerve schwannomas are uncommon, malignant schwannomas are extraordinarily rare. We describe a patient who presented with clinical and radiological features of a trigeminal schwannoma; however, pathological analysis showed a malignant peripheral nerve sheath tumour (WHO Grade IV). We discuss these extremely rare tumours and their management.     

Malignant peripheral nerve sheath tumour of the cervical vagus nerve in a neurofibromatosis type 1 patient.

One serious complication of neurofibromatosis type 1 (NF1) is the development of malignant peripheral nerve sheath tumours (MPNSTs). These malignancies often develop within pre-existing plexiform neurofibromas and their development is now thought to be associated with both tumour suppressor gene mutations and dysregulated growth factor signalling. Recent work demonstrates that the lifetime risk of malignant transformation is significantly greater than previously thought. Ionising radiation, a long-standing disease, particularly the presence of a large number of plexiform neurofibromas from an early age, are suggested risk factors. We present an NF1 patient who developed an MPNST of the cervical vagus nerve which was successfully treated with surgery. Close monitoring of patients with NF and a high level of suspicion towards rapidly enlarging and painful swellings is merited as these features may signify malignant transformation. Whether a positive history of MPNST in other affected family members predisposes the individual to a higher risk of malignant transformation is unclear.     

Malignant intraosseous peripheral nerve sheath tumour of the proximal femur: a case report

We report a rare case of an intraosseous malignant peripheral nerve sheath tumour of the femoral head and neck. The tumour presented as a well-defined radiolucent lesion on plain radiography. Computed tomography showed aggressive destruction of the bone with no involvement of the adjacent soft tissues. Magnetic resonance imaging revealed an isointense signal intensity on T1-weighted images, hyperintensity on T2-weighted images, and non-homogeneously increased signal intensity after administration of contrast media. The final diagnosis was based on pathohistologic analyses due to the non-specific nature of the lesion.     

Malignant peripheral nerve sheath tumor of the kidney

Malignant peripheral nerve sheath tumors are rare in the genitourinary organs, with few reports of occurrence in the kidney. We describe a patient with a renal malignant peripheral nerve sheath tumor, discovered after excision of a malignant peripheral nerve sheath scalp lesion, with additional masses in the lung and shoulder on metastatic evaluation. This patient underwent neoadjuvant intravenous doxorubicin therapy, followed by surgical resection of the scalp, lung and shoulder lesions in addition to a radical nephrectomy.     

Malignant peripheral nerve sheath tumor of the back

A 65-year-old woman developed a tumor on the medial aspect of the lumbosacral spine. The diagnosis on biopsy was neurogenic sarcoma, T3N0M0. Despite wide surgical excision and regular follow-up, the patient developed a local recurrence requiring several supplementary operations before her death 4 years after the initial diagnosis. This case illustrates the highly aggressive and recurrent nature of these rare neurogenic tumors; they require early multidisciplinary management and regular careful follow-up. Received: 13 November 1999 / Accepted: 23 February 2000     

Malignant peripheral nerve sheath tumor of the esophagus

BACKGROUND: Sarcomas of the esophagus are rare representing 0.1-1.5% of all esophageal tumors. We report a case of malignant peripheral nerve sheath tumor (MPNST) of the esophagus in a 60-year-old woman. METHODS: The diagnosis was made preoperatively on endoscopic biopsy and confirmed after tumor resection by immunohistochemistry as well as electron microscopy. The patient underwent abdominal-thoracicen bloc esophagectomy with mediastinal lymphadenectomy and intrathoracic esophagogastrostomy. RESULTS: Our therapeutic concept for the first case of a high-grade MPNST (malignant schwannoma) of the esophagus resulted in a recurrence-free interval of 4 years. CONCLUSION: The therapy of choice was abdominal-thoracic en bloc esophagectomy with tumor-free resection margins and esophageal reconstruction with the stomach. After R0-resection we found no indication for adjuvant radio- and/or chemotherapy.     

Intrasellar malignant peripheral nerve sheath tumor (MPNST)

Summary Intracranial malignant peripheral nerve sheath tumors (MPNST) and intrasellar schwannomas are rare tumors. We describe a case of an intrasellar schwannoma with progression to a MPNST, a finding that, although very rare, extends the differential diagnosis of intrasellar lesions.     

Malignant peripheral nerve sheath tumors: an update

Malignant peripheral nerve sheath tumors (MPNSTs) are highly malignant cancers that account for approximately 5-10% of all soft tissue sarcomas. They occur either sporadically, in association with neurofibromatosis type 1 (NF1), or subsequent to radiation therapy. Histologically, MPNSTs resemble fibrosarcomas in their basic organization. Immunohistochemistry, particularly S100, plays an important role in the diagnosis. At the molecular level, loss of the NF1 gene and high levels of Ras-activity are hallmarks. Magnetic resonance imaging (MRI) is the most helpful imaging technique to clearly identify tumoral extent and to suggest neurogenic origin. The presence of heterogeneity with evidence of necrosis and hemorrhage on MRI and increased uptake on positron emission tomography scan may prove helpful in detecting malignant changes. MPNSTs need to be approached by a multidisciplinary team, assuring the complete surgical removal of the lesion. Disease-free and overall survival statistics reinforce the aggressive nature of this unique soft tissue tumor.