Malignant Peripheral Nerve Sheath Tumors (MPNST): The Mayo Clinic Experience

Stucky, Chee Chee H.; Johnson, K. Norman; Gray, Richard; Pockaj, Barbara A.; Ocal, Idris Tolgay; Rose, Peter S.; Wasif, Nabil

doi:10.1245/s10434-011-1978-7

Cited by 294 publications

(364 citation statements)

References 13 publications

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“…The absence of the characteristic chromosomal translocation (X;18) [45] and SSX1 and SSX2 fusion genes [12] of synovial sarcoma was critical to differentiating these two entities. Malignant peripheral nerve sheath tumors usually present as enlarging soft tissue masses in the extremities [49]. Histologically, malignant peripheral nerve sheath tumors are characterized by spindle-shaped cells but show considerable mitotic activity [49].…”

Section: Discussion and Treatmentmentioning

confidence: 99%

“…Malignant peripheral nerve sheath tumors usually present as enlarging soft tissue masses in the extremities [49]. Histologically, malignant peripheral nerve sheath tumors are characterized by spindle-shaped cells but show considerable mitotic activity [49]. Although MRI does not reveal any specific features, close proximity of the tumor to nerves is suggestive of a malignant peripheral nerve sheath tumor [29].…”

Section: Discussion and Treatmentmentioning

confidence: 99%

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Orthopaedic Case of the Month: A 14-Year-Old Boy With a Medial Thigh Soft Tissue Mass

Ibrahim

Mascarenhas

Tovar

et al. 2013

Clinical Orthopaedics &Amp; Related Research

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Section: Discussion and Treatmentmentioning

confidence: 99%

Section: Discussion and Treatmentmentioning

confidence: 99%

Orthopaedic Case of the Month: A 14-Year-Old Boy With a Medial Thigh Soft Tissue Mass

Ibrahim

Mascarenhas

Tovar

et al. 2013

Clinical Orthopaedics &Amp; Related Research

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“…1,3,8,15,16 For these neurofibromatosis type 1 patients, this often becomes a life-limiting aspect of their condition as the 5-year survival rate of malignant peripheral nerve sheath tumor is B40%. 10,17,18 The biological factors underlying this transformation are still poorly understood. 3 Which of a patient's often numerous plexiform neurofibromas, if any, will transform into a malignant peripheral nerve sheath tumor cannot be predicted.…”

mentioning

confidence: 99%

Expression profiling of 519 kinase genes in matched malignant peripheral nerve sheath tumor/plexiform neurofibroma samples is discriminatory and identifies mitotic regulators BUB1B, PBK and NEK2 as overexpressed with transformation

et al. 2013

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About 50% of all malignant peripheral nerve sheath tumors (MPNSTs) arise as neurofibromatosis type 1 associated lesions. In those patients malignant peripheral nerve sheath tumors are thought to arise through malignant transformation of a preexisting plexiform neurofibroma. The molecular changes associated with this transformation are still poorly understood. We sought to test the hypothesis that dysregulation of expression of kinases contributes to this malignant transformation. We analyzed expression of all 519 kinase genes in the human genome using the nanostring nCounter system. Twelve cases of malignant peripheral nerve sheath tumor arising in a background of preexisting plexiform neurofibroma were included. Both components were separately sampled. Statistical analysis compared global changes in expression levels as well as changes observed in the pairwise comparison of samples taken from the same surgical specimen. Immunohistochemical studies were performed on tissue array slides to confirm expression of selected proteins. The expression pattern of kinase genes can separate malignant peripheral nerve sheath tumors and preexisting plexiform neurofibromas. The majority of kinase genes is downregulated rather than overexpressed with malignant transformation. The patterns of expression changes are complex without simple recurring alteration. Pathway analysis demonstrates that differentially expressed kinases are enriched for kinases involved in the direct regulation of mitosis, and several of these show increased expression in malignant peripheral nerve sheath tumors. Immunohistochemical studies for the mitotic regulators BUB1B, PBK and NEK2 confirm higher expression levels at the protein level. These results suggest that the malignant transformation of plexiform neurofibroma is associated with distinct changes in the expression of kinase genes. The patterns of these changes are complex and heterogeneous. There is no single unifying alteration. Kinases involved in mitotic regulation are particularly enriched in the pool of differentially expressed kinases. Some of these are overexpressed and are therefore possible targets for kinase inhibitors.

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“…Wide local resection for MPNST including the sciatic nerve or pelvic plexus is required (13), as reported in our patient. Multimodality treatments, such as adjunctive radiotherapy and chemotherapy, have been associated with improved survival outcomes compared with previous reports (14,15). However, only complete surgical excision prior to metastasis is likely to result in a good prognosis.…”

Section: Discussionmentioning

confidence: 96%

Giant intrapelvic malignant peripheral nerve sheath tumor mimicking disc herniation: A case report

Wang

Chen

Xin

et al. 2016

Molecular and Clinical Oncology

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Abstract. Giant intrapelvic malignant peripheral nerve sheath tumors arising in the sciatic nerve in the pelvic cavity are a rare occurrence and their symptomatology is usually misdiagnosed as intervertebral disc herniation. We herein report the case of a 46-year old woman presenting with pain, hypesthesia and weakness of the left lower extremity due to a giant intrapelvic malignant peripheral nerve sheath tumor of the sciatic nerve. Prior to being referred to our institution, the patient was misdiagnosed as a case of sciatica due to a lumbar disc herniation and underwent an operation unsuccessfully, as there was little symptomatic improvement 2 months after the surgery. A magnetic resonance imaging examination of the pelvic cavity revealed a tumor of the sciatic nerve. The mass was resected via the posterior approach and histopathological examination confirmed the diagnosis of malignant peripheral nerve sheath tumor. Intrapelvic malignant peripheral nerve sheath tumors are an uncommon cause of sciatica and are commonly misdiagnosed as lumbar intervertebral disc herniation. Accurate diagnosis and complete surgical excision prior to metastasis are crucial for effective management of this condition. IntroductionThe most common cause of sciatica is intervertebral disc herniation; thus, obscure causes are rarely considered in the differential diagnosis. Malignant peripheral nerve sheath tumor (MPNST) arising from the sciatic nerve is a relatively rare malignant soft tissue tumor (1). This tumor may produce severe radicular pain and sensorimotor deficits, mimicking a disc herniation. Due to the rare incidence of this disease, reports on intrapelvic MPNSTs are scarce and there has been no systemic study of intrapelvic MPNSTs to date (2,3). In this study, we reported a misdiagnosed case of giant intrapelvic MPNST of the sciatic nerve mimicking disc herniation. Our aim was raise awareness that intrapelvic MPNST is an unusual cause of sciatica, which is usually misdiagnosed as disc herniation. The diagnosis, treatment and prognosis of MPNSTs were also discussed. Case reportA 46-year old woman was admitted to another hospital with a 3-month history of pain that radiated from the posterior aspect of the left thigh to the lateral aspect of the leg and left foot, and was associated with numbness of the left lower limb. The patient had undergone a lumbar magnetic resonance imaging (MRI) examination, which revealed a mild L4/5 intervertebral disk herniation (Fig. 1A and B). A clinical diagnosis of intervertebral disk herniation was made, and L4/5 discectomy was performed (Fig. 1C and D). However, there was little symptomatic improvement after 2 months. The patient was subsequently referred to our institution.On admission, the patient's neurological examination revealed grade 3/5 weakness of the quadriceps femoris, grade 2/5 weakness of the triceps surae and grade 0/5 weakness of the extensor hallucis longus and extensor digitorum longus, a decreased sensation to light touch, decreased patellar reflex and Achilles reflex on the...

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Malignant Peripheral Nerve Sheath Tumors (MPNST): The Mayo Clinic Experience

Abstract: High tumor grade and tumor size ≥ 5 cm predict adverse DSS for MPNST. In the context of a multidisciplinary treatment regimen, local recurrence and survival outcomes at 5 and 10 years were better than previously reported for MPNST.

Cited by 294 publications

References 13 publications

Orthopaedic Case of the Month: A 14-Year-Old Boy With a Medial Thigh Soft Tissue Mass

Orthopaedic Case of the Month: A 14-Year-Old Boy With a Medial Thigh Soft Tissue Mass

Expression profiling of 519 kinase genes in matched malignant peripheral nerve sheath tumor/plexiform neurofibroma samples is discriminatory and identifies mitotic regulators BUB1B, PBK and NEK2 as overexpressed with transformation

Giant intrapelvic malignant peripheral nerve sheath tumor mimicking disc herniation: A case report

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