Malignant periperal nerve sheath tumor of the breast in a patient with neurofibroma type 1: An unusual presentation

Ibrahim U Garzali; Amina I El-Yakub; Abdulrahman A Sheshe

doi:10.4103/ais.ais_9_20

CASE REPORT

Year : 2019 | Volume : 9 | Issue : 2 | Page : 50-52

Malignant periperal nerve sheath tumor of the breast in a patient with neurofibroma type 1: An unusual presentation

Ibrahim U Garzali¹, Amina I El-Yakub², Abdulrahman A Sheshe²
¹ Department of Surgery, Abubakar Tafawa Balewa University Teaching Hospital, Bauchi, Nigeria
² Deparment of Surgery, Aminu Kano Teaching Hospital, Kano, Nigeria

Date of Submission	06-Mar-2020
Date of Acceptance	27-Apr-2020
Date of Web Publication	08-Aug-2020

Correspondence Address:
Dr. Ibrahim U Garzali
Department of Surgery, Abubakar Tafawa Balewa University Teaching Hospital, Bauchi
Nigeria

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/ais.ais_9_20

Abstract

Breast cancer of mesenchymal origin is rare. Malignant peripheral nerve sheath tumors (MPNST) are believed to derived from peripheral nerves or demonstrate peripheral nerve differentiation. They represent only 5-10% of all malignant soft tissue sarcomas with an incidence of 4% in patients with neurofibromatosis type 1 syndrome and 0.001% in general population. We present a 40-year-old woman with Von Recklinghausen's disease diagnosed 10 years prior to presentation and complain of right breast lump of 3 months duration that rapidly increase to affect the whole breast. The overlying skin ulcerated spontaneously with preservation of the nipple areola complex. Examination revealed features of Neurofibromatosis type 1. The right breast contained a hard mass with an overlying ulcer. Axillary lymph nodes were not enlarged. Incisional biopsy of the ulcer revealed features of neurofibromatosis. A chest radiograph revealed pleural effusion while abdominal ultrasound revealed liver metastasis. A diagnosis of metastatic peripheral nerve sheath tumour was made. The challenges in the diagnosis and treatment of this patient are discussed.

Keywords: Breast cancer, malignant peripheral nerve sheath tumor, neurofibromatosis

How to cite this article:
Garzali IU, El-Yakub AI, Sheshe AA. Malignant periperal nerve sheath tumor of the breast in a patient with neurofibroma type 1: An unusual presentation. Arch Int Surg 2019;9:50-2

How to cite this URL:
Garzali IU, El-Yakub AI, Sheshe AA. Malignant periperal nerve sheath tumor of the breast in a patient with neurofibroma type 1: An unusual presentation. Arch Int Surg [serial online] 2019 [cited 2023 May 30];9:50-2. Available from: https://www.archintsurg.org/text.asp?2019/9/2/50/291752

Introduction

Breast cancer is the most common cancer in women across the world, but breast cancer of mesenchymal origin is rare.^[1] The most common histological subtype of primary breast neoplasm remains epithelial derived invasive ductaladenocarcinoma, comprising 75%.^[2] Sarcomas are very rare, accounting for <1% of all primary breast neoplasms.^[1],[2]

Malignant peripheral nerve sheath tumors (MPNST) are believed to be derived from peripheral nerves or demonstrate peripheral nerve differentiation.^[3] More specifically, they are defined as nerve sheath tumors arising from a peripheral nerve, from a preexisting peripheral nerve sheath tumor, or in the setting of neurofibromatosis type 1(NF-1).^[3]

Malignant peripheral nerve sheath tumors are a rare type of malignancy and represent only 5-10% of all malignant soft tissue sarcomas.^[1],[4] They have an incidence of 4% in patients with neurofibromatosis type 1 syndrome and 0.001% in general population.^[1],[5]

The common sites of involvement in decreasing frequencies are trunk (51%), extremities (45%), and head and neck (4%).^[1],[5] MPNST of breast origin is a very rare occurrence with not more than 15 cases reported in the literature from 1983 till date.^[1],[5],[6] We report a case of a 40-year-old woman with a neurofibroma that present with a malignant peripheral nerve sheath tumor of the right breast.

Case Report

A 40-year-old woman, who was diagnosed with Von Recklinghausen's disease 10 years ago, complained of right breast lump of 3 months duration. The lump was initially of the size of the distal phalanx of her thumb but rapidly increased in size to affect the whole breast. The overlying skin ulcerated spontaneously with preservation of the nipple areola complex. After a month of illness, she developed difficulty in breathing but no cough or chest pain. She is a para 3 + 0 whose first child birth was at 20 years of age. She has no family history of breast cancer but her brother was also diagnosed with Von Recklinghausen's disease.

On examination, there were generalized multiple nodules on her skin, café au lait spots, axillary freckling, and plexiform nodules. There was breast asymmetry in the right breast and a normal left breast and axilla [Figure 1]. The right breast was completely occupied by an ulcer of 8 cm by 10 cm, with raised everted edges, necrotic floor. The base of the ulcer was formed by a hard mass of 12 by 10 cm, nontender and attached to the chest wall. The ipsilateral axillary lymph nodes were not enlarged.

Figure 1: Clinical image of the patient. Note the ulcerated right breast

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The diagnosis of background Von Recklinghausen's disease was due to the presence of 4 neurofibromata and brother had neurofibroma.

Incisional biopsy was taken from the lesion and it revealed infiltrating cords and nests of atypical epitheliod cells having moderately pleomorphic nuclei and scanty mitosis. They also exhibit perineural disposition. Other investigations performed, including abdominopelvic ultrasound scan, revealed multiple liver metastases, whereas a plain chest radiograph revealed right-sided pleural effusion. Bone scan was not done because it was not available at the time of presentation.

A diagnosis of metastatic peripheral nerve sheath tumor, epitheliod type, was made. She was being prepared for neoadjuvant doxorubicin and ifosfamide to control systemic disease and reduce local tumor burden for subsequent simple mastectomy. She was also counseled for right tube thoracostomy with pleuridesis for the right sided pleural effusion. However, before she gave consent for any treatment, the patient died.

Discussion

MPNST is a rare sarcomatous tumor, previously known as neurofibrosarcoma, neurogenic sarcoma, malignant neurilemmoma and malignant schwannoma.^[6],[7] They represent 5-10% of all soft tissue sarcomas.^[4],[6],[7] Usually patients are of age group 20-50 years with equal sex predilection but patients with neurofibromatosis type 1 are diagnosed 10 years earlier.^{[1],[5],[6],[7]} MPNST of breast origin is a very rare occurrence with not more than 15 cases reported in the literature from 1983 till date.^[1],[5],[6]

Clinical diagnosis of MPNST of the breast is difficult because the disease is very rare in this location. We initially made a diagnosis of carcinoma of the breast because of the patient's age and the rapidity with which the mass grew and associated ulceration of the breast. Also, the findings of a mass that occupies the whole breast and attached to the chest wall. However, the background setting of neurofibromatosis 1 should have hinted the possibility of MPNST. Women with NF1 are at high risk of breast cancer, especially before 50 years.^[8] However, the patients tend to present later than other patients with breast cancer due to cutaneous and breast neurofibroma that impair palpation of a suspicious mass and also the interpretation of investigations including mammography are more difficult in neurofibromatosis patients.^[9]

An incisional biopsy was taken for histologic analysis which showed infiltrating cords and nests of atypical epitheliod cells having moderately pleomorphic nuclei and scanty mitosis. They also exhibited perineural invasion. These features suggest MPNST which can be confirmed by immunohistochemistry which will demonstrate antigens like S100 protein, Leu-7, and myelinbasic protein. According to Begum et al., S100 protein is weakly and patchily present in <50% of cases, whereas the other two antigens show immunoreactivity in approximately half of the tumors.^[1] We could not do immunohistochemistry as it was not available at the time of this case.

Computed tomography (CT) or magnetic resonance imaging (MRI) has little value but some findings should raise suspicion of MPNST such as a large tumor (>5 cm) with heterogeneity, ill-defined margins, invasion of fat planes, and perilesional edema. CT findings of extensive central necrosis and an aggressively growing tumor at themass periphery could also indicate a diagnosis of MPNST of the breast.^[1] Fluorodeoxyglucose-positron emission tomography (FDG-PET), however, has demonstrated reliability in differentiating between benign neurofibromas and MPNST in patients with NF 1.^[1] In general, MPNST is known to have high metastatic potential and poor prognosis. Report 5-year survival ranges between 15% and 50%.^[3] Treatment of metastatic MPNST is very challenging with response to conventional cytotoxics discouraging. A combination of ifosfamide and etoposide has been reported to be potent against MPNST and can be used as neoadjuvant therapy.^[3] This is what we intended to use for this patient followed by simple mastectomy when the tumour becomes resectable but unfortunately we couldn't commence therapy before her death.

Conclusion

We report an unusual case of MPNST of the breast in a patient with neurofibromatosis 1 and highlighted the diagnostic dilemma it poses because of its location and mode of presentation. High index of suspicion is required in patients with neurofibromatosis 1 presenting with a breast lump.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

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