Malignant peripheral nerve sheath tumor (MPNST) arising in diffuse-type neurofibroma: clinicopathologic characterization in a series of 9 cases
- PMID: 25929351
- DOI: 10.1097/PAS.0000000000000447
Malignant peripheral nerve sheath tumor (MPNST) arising in diffuse-type neurofibroma: clinicopathologic characterization in a series of 9 cases
Abstract
Diffuse-type neurofibroma, an uncommon variant of neurofibroma, is associated with neurofibromatosis type 1 in ∼60% of cases. Typically presenting in young adults as ill-defined plaque-like dermal/subcutaneous thickening, most cases are located on the trunk or the head and neck region. Malignant transformation is extremely rare. Nine cases of malignant peripheral nerve sheath tumor (MPNST) arising in diffuse-type neurofibroma (identified in consult files) are described, including clinicopathologic features and follow-up. Five patients were male and 4 female, aged 31 to 59 years (median 49 y). All diffuse-type neurofibromas contained Meissner corpuscles, with tumor sizes ranging between 3.6 and 45 cm (median, 7.4 cm). Five patients had a clinical history of neurofibromatosis type 1, and 1 had Klippel-Trénaunay-Weber syndrome. Six tumors arose on the trunk and 1 each on the leg, arm, and scalp. Increased cellularity, nuclear atypia, and mitoses (range, 1 to 63/50 high-power fields) indicated transition to MPNST, classified as low grade in 5, intermediate to high grade in 1, and high grade in 3 cases, 1 of which exhibited heterologous angiosarcomatous differentiation. S-100 expression was quite strong and diffuse in the neurofibroma components and less extensive or weaker in MPNST. Follow-up, available for all patients (median, 80.5 mo, except 1 recent case), revealed that 1 patient developed local recurrence after 9 months; 1 with metastases at the time of initial diagnosis died 1 month after tumor resection. All other patients were alive without evidence of disease at 15 to 145 months (median, 83 mo). Diffuse-type neurofibroma may show transformation to MPNST in very rare instances. It is important to be aware of possible malignant change, requiring thorough sampling of resection specimens and long-term clinical follow-up of patients with unexcised lesions.
Similar articles
-
Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview.Hum Pathol. 2017 Sep;67:1-10. doi: 10.1016/j.humpath.2017.05.010. Epub 2017 May 24. Hum Pathol. 2017. PMID: 28551330 Free PMC article. Review.
-
Epithelioid malignant peripheral nerve sheath tumor: clinicopathologic analysis of 63 cases.Am J Surg Pathol. 2015 May;39(5):673-82. doi: 10.1097/PAS.0000000000000379. Am J Surg Pathol. 2015. PMID: 25602794
-
Superficial malignant peripheral nerve sheath tumor arising from diffuse neurofibroma in a neurofibromatosis type 1 patient.J Dermatol. 2014 Jul;41(7):631-3. doi: 10.1111/1346-8138.12536. Epub 2014 Jun 18. J Dermatol. 2014. PMID: 24942776
-
Sporadic superficial diffuse neurofibromas with repeated local recurrence over many years and a tendency toward malignant change: a report of 3 cases.Am J Surg Pathol. 2013 Jul;37(7):987-94. doi: 10.1097/PAS.0b013e31827c96f4. Am J Surg Pathol. 2013. PMID: 23648456
-
Malignant peripheral nerve sheath tumor of intracranial nerve: a case series review.Auris Nasus Larynx. 2010 Oct;37(5):539-45. doi: 10.1016/j.anl.2010.02.009. Auris Nasus Larynx. 2010. PMID: 20399579 Review.
Cited by
-
Association of plexiform and diffuse neurofibromas with malignant peripheral nerve sheath tumor in NF I patients: a whole-body MRI assessment.Skeletal Radiol. 2024 Apr;53(4):769-777. doi: 10.1007/s00256-023-04497-z. Epub 2023 Oct 31. Skeletal Radiol. 2024. PMID: 37903998
-
Dermatologic Manifestations of Neurofibromatosis Type 1 and Emerging Treatments.Cancers (Basel). 2023 May 16;15(10):2770. doi: 10.3390/cancers15102770. Cancers (Basel). 2023. PMID: 37345107 Free PMC article. Review.
-
Primary Cardiac Schwannoma: A Meta-Analysis of Individual Case Reports.J Clin Med. 2023 May 9;12(10):3356. doi: 10.3390/jcm12103356. J Clin Med. 2023. PMID: 37240461 Free PMC article. Review.
-
Acute hemorrhagic cholecystitis related to diffuse neurofibroma of gallbladder in a patient with neurofibromatosis type 1.Surg Case Rep. 2023 Apr 20;9(1):62. doi: 10.1186/s40792-023-01647-2. Surg Case Rep. 2023. PMID: 37079137 Free PMC article.
-
Ankle Swelling in Patients With Type 1 Neurofibromatosis: A Report of Two Cases With Rare Presentation of Common Genodermatosis.Cureus. 2022 Sep 8;14(9):e28938. doi: 10.7759/cureus.28938. eCollection 2022 Sep. Cureus. 2022. PMID: 36237736 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
Research Materials