Page 18 - Delaware Medical Journal - October 2017
P. 18
A Unique Case of Malignant Peripheral
Nerve Sheath Tumor (MPNST) in the Breast
Elianne Rojas, DO; Jamil Khatri, MD; Diana Dickson-Witmer, MD, FACS; Dennis Witmer, MD, FACS
Malignant peripheral nerve sheath tumors (MPNST)
are uncommon soft tissue sarcomas often associated with Neurofibromatosis Type 1 (NF- 1). Incidence of MPNST in the breast is extremely rare, with only one previously reported case in a patient with NF-1. This report describes a 42-year-old woman with known NF-1 as well as MPNST occurring at multiple sites with a new primary breast tumor.
Keywords: Neurofibromatosis, Sarcoma, MPNST, NF-1, Spindle cell
BACKGROUND
Malignant peripheral nerve sheath tumors (MPNST) are uncommon, affecting 0.001 percent of the population. These malignant soft tissue sarcomas
can occur as a secondary neoplasm years after receiving radiation therapy or can arise from pre-existing benign plexiform is an autosomal dominant syndrome with clinical manifestations including areas of cutaneous pigmentation called cafe-au- Lisch nodules, pigmented papules found in the iris of NF-1 patients. There are
benign, cutaneous form and the more aggressive plexiform variety with greater malignant potential.
Patients with NF-1 have only a 2-5 percent incidence rate of MPNST.1 The most common sites are the extremities, trunk, head, and neck.2 These initially present as rapidly progressing masses with or without neurologic symptoms. Usually the mass is greater than 5 cm
at presentation with malignancy seen in 50 percent of newly diagnosed cases.3 include: large size, heterogenicity, and consisting of spindle cells, with similar tumors, and leiomyosarcoma. As such, immunohistochemistry is necessary to include the presence of high-grade
Treatment of MPNST is identical to treatment of malignant soft tissue sarcoma and is dependent upon location and extent of the tumor. Treatment options range from surgical resection to chemoradiation therapy or a combination of both. Regardless of treatment, prognosis is usually unfavorable. Prior studies have suggested that a concurrent diagnosis of NF-1 is associated with poor prognosis as demonstrated in a large
single-center retrospective review of 175 cases followed over a 25-year period.2 However, a more recent retrospective study suggests that NF-1 is only a poor prognostic factor in patients presenting with metastasis or recurrence. This leads clinicians to debate whether or not these two patient populations should be managed differently.
CASE PRESENTATION
This patient is a 42-year-old African American female diagnosed with initially presented in October 2011 with an enlarging right neck mass causing some dysphagia. CT revealed a right mediastinal mass extending to the right lower neck with mild displacement of adjacent structures. She underwent resection on November 6, 2011, which yielded a mass measuring 12.5 x 7.5 x 5.5 cm and one cervical lymph node. Tumor extended to surgical margin and did stain the diagnosis of MPNST. Adjuvant radiation therapy was administered to the tumor bed. In 2012, surveillance imaging demonstrated an enlarging right axillary mass and left lung nodule. She underwent chemotherapy with Temozolomide and the lesions were stable on follow-up imaging. In 2014, the patient returned with right lower extremity pain caused by an intramedullary femur mass which
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Del Med J | October 2017 | Vol. 89 | No. 10
Abstract
