Malignant Peripheral Nerve Sheath Tumors in Neurofibromatosis: Impact of Family History

Malbari, Fatema; Spira, Menachem; Knight, Pamela; Zhu, Chong; Roth, Michael; Gill, Jonathan; Abbott, Rick; Levy, Adam

doi:10.1097/mph.0000000000001156

Cited by 17 publications

(9 citation statements)

References 22 publications

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“…5 A recent study on the impact of family history suggests that a positive family history of MPNST is a risk factor for MPNST development at an earlier age in patients with NF1. 9 The typical clinical presentation of benign tumors is a firm, slow-growing mass that is either asymptomatic or causes radiating pain or paresthesia along the course of the nerve. 1,2 On physical examination, a positive Tinel sign may be present over the mass.…”

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confidence: 99%

Nerve Tumors of the Upper Extremity

Strike

Puhaindran

2019

Clinics in Plastic Surgery

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Nerve tumors of the upper extremity include benign peripheral nerve sheath tumors (BPNSTs) and malignant peripheral nerve sheath tumors (MPNSTs). The most common peripheral nerve sheath tumors (PNSTs) of the hand and upper extremity are schwannomas, which are benign tumors of Schwann cell origin 1-4 (Fig. 1). Multiple schwannomas may occur in schwannomatosis. Neurofibromas, also benign, are classically associated with neurofibromatosis (NF) but can occur as solitary lesions. These tumors also may be associated with gigantism of the underlying anatomy. 1 BPNSTs can be observed or surgically excised with careful microscopic intrafascicular dissection. 4 BPNSTs can transform to MPNSTs, which require more aggressive surgical treatment by a multidisciplinary team. Clinical and radiological factors for identifying malignant tumors and differentiating these from their benign counterparts are discussed. The most current recommended surgical techniques for tumor excision also are reviewed. CONTENT Clinical Presentation Classic symptoms of malignant degeneration of an MPNST include rapid growth, pain at night, size greater than 5 cm, previously soft consistency that becomes firm, and any associated constitutional symptoms. 5 Malignant transformation is rare for schwannomas. 1 Neurofibromas associated with NF are more likely to undergo malignant transformation than solitary lesions. 1,2 MPNSTs may occur in 2% to 13% of patients with NF1 compared with 0.001% of the general population 5,6 ; 50% of MPNSTs are in patients with NF1 but can occur postradiation or sporadically. 7,8 Rapid growth of a plexiform neurofibroma in NF1 may not necessarily represent malignant transformation. This is a Disclosure Statement: The authors have nothing to disclose.

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confidence: 99%

Nerve Tumors of the Upper Extremity

Strike

Puhaindran

2019

Clinics in Plastic Surgery

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“…However, there have only been a few previous reports about the association between smoking and sarcoma development [22][23][24][25][26]42]. Recent genomic studies have expanded our knowledge regarding the basis of carcinogenesis, including sarcoma; however, gene abnormalities, such as fusion genes or driver mutations, in most types of sarcoma remain unclear [43][44][45][46][47][48][49][50]. Understanding the impact of lifestyle habits, lifestyle diseases, and genetic abnormalities would be helpful to advise patients on how to prevent carcinogenetic factors and also how to obtain appropriate genetic counseling.…”

Section: Discussionmentioning

confidence: 99%

“…All these histological types are well known to be associated with genetic abnormalities. MPNST was associated with NF1 gene mutations [44]. Leiomyosarcoma was associated with deletion of TP53 and RB1 gene and BRCA1/2 gene rearrangement [48].…”

Section: Discussionmentioning

confidence: 99%

Smoking and Family Cancer History Are Associated With Sarcomas in A Japanese Population Study

Araki

Yamamoto

Tanzawa

et al. 2020

Preprint

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Background: Sarcoma is a rare cancer, and it is also the cause of the development of various kinds of sarcomas, such as gene abnormalities, which has recently becoming evident due to advances of genetic testing. The approach to solve the origin of diseases is essential to elucidate both the external environmental factors and the internal genetic factors. However, the lifestyle habits, lifestyle-related diseases, personal and family cancer history of sarcoma patients remain unclear.Methods: A total of 1320 sarcoma patients were enrolled in this study. A questionnaire on lifestyle habits, life-style diseases, and the patient’s personal and family cancer history was completed at presentation. A total of 1320 controls were selected by propensity score matching for age and gender. Smoking, drinking, obesity, hypertension, dyslipidemia and diabetes mellitus were compared. In addition, we investigated the incidence of a personal and family cancer history in sarcoma patients. Results: A smoking habit was the only independent risk factor for high-grade soft tissue sarcoma development in adults ≥20 years old (n=952), excluding low-grade and intermediate malignant soft tissue tumors (Odds ratio [OR], 2.45; 95% confidence interval [CI] 1.88-3.20, p<0.001). The ORs of high-grade liposarcoma and undifferentiated pleomorphic sarcoma (UPS) were 2.56 and 3.00, respectively. Eight percent of sarcoma patients had a personal history of another cancer. Thirty percent of soft tissue sarcoma patients had a family history of cancer in a first-degree relatives (malignant peripheral nerve sheath tumor, 52%; leiomyosarcoma, 46%). Conclusions: We confirmed that a smoking habit were associated with the development of high-grade soft tissue sarcomas. A family history of cancer might be associated with certain soft tissue sarcomas, but a further investigation will be necessary.

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“…Although many MPNSTs are therefore sporadic, a diagnosis of NF1 is the primary known risk factor. Moreover, among those patients with NF1, a family history of NF1 and MPNST appears to be associated with an approximately three-fold greater risk of developing an MPNST in that patient [ 18 ]. Patients with whole-gene deletions of NF1, subcutaneous neurofibromas, or a larger number of plexiform neurofibromas are at particular risk of developing MPNST [ 19 , 20 ].…”

Section: Mpnst Pathophysiologymentioning

confidence: 99%

Malignant Peripheral Nerve Sheath Tumors—A Comprehensive Review of Pathophysiology, Diagnosis, and Multidisciplinary Management

Knight

Santiago

et al. 2022

Children

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Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas (STS) with nerve sheath differentiation and a tendency to metastasize. Although occurring at an incidence of 0.001% in the general population, they are relatively common in individuals with neurofibromatosis type 1 (NF1), for whom the lifetime risk approaches 10%. The staging of MPNSTs is complicated and requires close multi-disciplinary collaboration. Their primary management is most often surgical in nature, with non-surgical modalities playing a supportive, necessary role, particularly in metastatic, invasive, or widespread disease. We, therefore, sought to provide a comprehensive review of the relevant literature describing the characteristics of these tumors, their pathophysiology and risk factors, their diagnosis, and their multi-disciplinary treatment. A close partnership between surgical and medical oncologists is therefore necessary. Advances in the molecular characterization of these tumors have also begun to allow the integration of targeted RAS/RAF/MEK/ERK pathway inhibitors into MPNST management.

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Malignant Peripheral Nerve Sheath Tumors in Neurofibromatosis: Impact of Family History

Abstract: These results suggest a positive family history of MPNST represents a risk factor for the development and early onset of MPNST in individuals with NF-1.

Cited by 17 publications

References 22 publications

Nerve Tumors of the Upper Extremity

Nerve Tumors of the Upper Extremity

Smoking and Family Cancer History Are Associated With Sarcomas in A Japanese Population Study

Malignant Peripheral Nerve Sheath Tumors—A Comprehensive Review of Pathophysiology, Diagnosis, and Multidisciplinary Management

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