Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome

Our plain-English summary of Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome, by M.C. Kaszuba, J.S. Pulido, A.L. Folpe, et al (World Neurosurgery, 2018).

The study

• Authors: M.C. Kaszuba, J.S. Pulido, A.L. Folpe, P.N. Pichurin, M.L. Goodenberger, R.J. Spinner
• Journal: World Neurosurgery
• Published: 2018;109:362-364
• Type of article: Case report
• Cited by: 4 articles, as counted by NIH iCite
• Read it: PubMed · Publisher

Abstract

Background: Germline pathogenic variants in BRCA1-associated protein-1 (BAP1), a nuclear ubiquitin carboxy-terminal hydrolase with evidence suggestive of independent tumor suppressor function, predispose affected families to uveal melanoma, cutaneous melanoma, renal cell carcinoma, malignant mesothelioma, and possibly a range of other tumors and malignancies as part of the BAP1 tumor predisposition syndrome, a recently recognized hereditary cancer syndrome.

Case Description: A 50-year-old woman presented with a malignant peripheral nerve sheath tumor of the left fifth metatarsal head. Further examination revealed a right renal mass and left breast mass. Her family history was significant for astrocytoma, melanoma, cholangiocarcinoma, hepatocellular carcinoma, renal cell carcinoma, prostate cancer, non-Hodgkin lymphoma, and pancreatic adenocarcinoma. Genetic testing revealed a BAP1 mutation in the proband.

Conclusions: Although there have been reports of sarcomas and meningiomas in patients affected with BAP1 mutations, to our knowledge malignant peripheral nerve sheath tumors in this patient population have not been previously reported. We report a case of malignant peripheral nerve sheath tumor in a patient affected by a BAP1 mutation.

Copyright © 2017 Elsevier Inc. All rights reserved.

In plain English

This was a case report from the Mayo Clinic in Rochester, Minnesota, about one 50-year-old woman with BAP1 tumor predisposition syndrome. The authors describe this as an inherited condition that predisposes families to uveal and cutaneous melanoma, renal cell carcinoma, malignant mesothelioma and possibly other tumors. The article did not discuss asbestos exposure. The woman had a painful mass on her left foot. A 2 mm lesion removed from it was a high-grade epithelioid malignant peripheral nerve sheath tumor arising from a nerve. Staging tests found a 1.3 cm right kidney mass and breast cancer that had spread to lymph nodes in the left armpit. Treatment included amputation of the fifth toe and its foot bone, image-guided cryoablation (freezing) of the kidney mass, removal of both breasts, and chemotherapy. Several relatives had cancers, including astrocytoma, melanoma, cholangiocarcinoma and renal cell carcinoma. Genetic testing found a likely disease-causing BAP1 variant, which one of her healthy children also carried. The authors stated that, to their knowledge, this nerve tumor had not been reported before in people with BAP1 mutations. They concluded that such findings may affect future screening guidelines.

We wrote this plain-English summary from the full article with the help of AI, and a second AI model checked each sentence against the article. It is not the authors' wording; the abstract and the article are their own account.

What the study did and found

• Design: case report (single patient)
• Who was studied: One 50-year-old woman seen at the Mayo Clinic, Rochester, Minnesota, USA, with a painful mass on the left foot. Dates of care are not given.
• Exposure: No asbestos or other environmental exposure is discussed. The factor studied was an inherited (germline) BAP1 gene variant, c.659+1delG (IVS8+1delG).
• Main results:
  • The foot lesion was an epithelioid malignant peripheral nerve sheath tumor arising from a pre-existing nerve. The excised lesion measured 2 mm.
  • The tumor tested negative for markers of melanocytic (melanoma-type) differentiation.
  • Staging found a 1.3 cm right renal mass, treated by image-guided percutaneous cryoablation.
  • A biopsy of enlarged left armpit lymph nodes showed metastatic breast adenocarcinoma. Breast MRI showed a 1 cm left breast mass. After mastectomy, it was found to be grade 3 invasive ductal carcinoma positive for estrogen receptor, progesterone receptor and HER-2/neu.
  • The family history included astrocytoma in two relatives, basal cell carcinoma, melanoma, cholangiocarcinoma, hepatocellular carcinoma, renal cell carcinoma, prostate cancer, non-Hodgkin lymphoma and pancreatic adenocarcinoma.
  • One of the patient's healthy children tested positive for the same BAP1 variant.
  • On surveillance, an eye exam showed a small nevus of the optic disc. A skin exam showed multiple nevi, none of which met criteria for biopsy.
• The authors' conclusion: The authors stated that, to their knowledge, malignant peripheral nerve sheath tumors had not previously been reported in people with BAP1 mutations. They concluded that emerging evidence of other tumors in this syndrome, including these nerve tumors, may affect future screening guidelines.

Topics

Medical terms in this study, explained in our Lexicon: BAP1 Tumor Predisposition Syndrome, BAP1, Carcinoma, Malignant Mesothelioma, Adenocarcinoma, Sarcoma.

Related studies

• Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases — K. Rai, R. Pilarski, et al. (2016)
• A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma — K.A. Wadt, L.G. Aoude, et al. (2015)
• Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases — R. Pilarski, C.M. Cebulla, et al. (2014)
• Novel LRRK2 mutations and other rare, non-BAP1-related candidate tumor predisposition gene variants in high-risk cancer families with mesothelioma and other tumors — M. Cheung, Y. Kadariya, et al. (2021)
• Histologically Diverse BAP1-Deficient Melanocytic Tumors in a Patient With BAP1 Tumor Predisposition Syndrome — A. Louw, J. Creaney, et al. (2020)
• Post-thoracotomy neuralgic amyotrophy in a patient with BAP1 tumor predisposition syndrome: Multimodality longitudinal follow-up — N. Jazebi, N. Dargah-Zada, et al. (2021)

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