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DOI: 10.2478/v10163-011-0022-0 ACTA CHIRURGICA LATVIENSIS · 2010 (10/2) CASE REPORT Arnis Abolins*/**, Andrejs Vanags*/**, Guna Volanska*/**, Inga MelbardeGorkusa*/**, Ilze Strumfa*, Genadijs Trofimovics*/**, Janis Gardovskis*/** * Hereditary Cancer Institute, Riga Stradins University, Riga, Latvia ** Pauls Stradins Clinical University Hospital, Riga, Latvia Summary Here we describe a patient presenting with combination of three rare diseases, namely de novo malignant peripheral nerve sheath tumour of the breast, small cell variant of medullary thyroid carcinoma and multiple sclerosis. Although the combination by chance seems unlikely, the detailed history does not correspond to any of the known hereditary cancer syndromes and hypothetically may represent a new entity. Key words: malignant peripheral nerve sheath, tumour, breast. AIM OF THE DEMONSTRATION Breast cancer is the most common cancer among women in European Union (5). The vast majority of breast malignancies are carcinomas, but nonepithelial malignancies may also involve the breast. The aim of the case report is to demonstrate very rare oncological situation involving de novo malignant peripheral nerve sheath tumour (MPNST) of the breast associated with medullary thyroid cancer in the setting of multiple sclerosis. CASE REPORT A 46yearold female, suffering from multiple sclerosis, was consulted in the Pauls Stradins Clinical University Hospital because of large breast tumour that has increased slowly during 5 years. The family history was unremarkable. By objective examination, firm tumour, measuring 15 cm, was palpable in the centre of the breast and 6 cm large, firm mass was palpable in right axilla. During extensive clinical evaluation, core biopsy was performed. It revealed solid, anaplastic tumour composed of giant spindle and polygonal cells with dark nuclei. By immunohistochemistry (IHC), the tumour cells intensively expressed S100 protein and vimentin, but lacked melanosome protein HMB 45, pancytokeratin AE1/AE3 (CK), desmin as well as estrogen and progesterone receptors. Considering the immunophenotype and cellular atypia, malignant peripheral nerve sheath tumour of the breast was diagnosed. There were no subcutaneous nodules, cafe au lait spots, Lisch nodules or history of neurofibromas. Clinically, thyroid mass was also discovered during the diagnostic workup. The thyroid core biopsy yielded overtly malignant tissue with different structure, composed of atypical small cells. By IHC, these cells expressed CK. Proliferation fraction by Ki67 (clone MIB1) was 87% of the tumour cells. The diagnosis of highgrade thyroid carcinoma was made. Total thyroidectomy was performed as recommended by oncological council. Grossly paradoxically circumscribed highgrade carcinoma, measuring 9x7x5.7cm and showing angioinvasion and capsule penetration, was found in the right side of the thyroid. The tumour showed small cell morphology as well as intense expression of CK and synaptophysin, focal expression of chromogranin A, nuclear p53 expression and high proliferation fraction (84%) by IHC (Figure 1). No evidence of multifocality was found. Metastases were present in cervical lymph nodes (2/4). The findings were consistent with medullary thyroid carcinoma, small cell variant, pT3N1M0. Right mastectomy with axillary lymph node dissection was performed 10 days after thyroidectomy. Grossly, 11x7x8 cm firm node was found in the breast, and 9.5x4x6cm in axillary tissues. The tissue structure (Figure 2) was consistent with anaplastic sarcoma. By IHC, intense cytoplasmic and nuclear S100 expression, nuclear p53 expression as well as low proliferation fraction (5%) was found. No metastases were found in 26 axillary lymph nodes. The diagnosis of breast MPNST, pT2aN1M0G1 was issued. The postoperative time was uneventful. The patient was discharged on the third postoperative day for outpatient radiation therapy. Nine months after the mastectomy, increased left cervical lymph nodes were found and removed. Metastases of thyroid carcinoma were detected. One month later the patient died of disseminated thyroid cancer. DISCUSSION Malignant peripheral nerve sheath tumour (MPNST), previously designated neurofibrosarcoma, is a rare tumour with an incidence of 1 per 100,000. It constitutes 510% of soft tissue sarcomas. Approximately half of these tumours in adults arise sporadically de novo. The other half occurs in patients suffering from neurofibromatosis, type I (NF1). The mean age at the ACTA CHIRURGICA LATVIENSIS · 2010 (10/2) time of MPNST diagnosis is 37 years, but the patients with NF1 are 10 years younger. MPNST originates from a major or minor peripheral nerve sheath. The most common MPNST locations are the trunk (51%), the extremities (45%) and the head and neck in 4% of patients (1). Less than 10 de novo cases in breast are described (7). The correct preoperative diagnosis of MPNST depends on biopsy in order to confirm the malignancy and to identify the histogenesis. The microscopic picture can be suggestive of MPNST but is not absolutely diagnostic. The IHC can be diagnostic or can exclude other malignant tumours (6). The treatment of MPNST is complete surgical removal. There are no reports in the literature on the role of radiotherapy or chemotherapy for the treatment of MPNST of breast (7) but radiotherapy is recommended for highgrade tumours with negative histological resection margins and for intermediategrade tumours with close or positive histological resection margins. Chemotherapy is recommended as treatment of metastatic disease and it may be helpful in preoperative settings to decrease unresectable primary tumours (4). The patient had highgrade thyroid cancer consistent with the small cell variant of medullary carcinoma. However, there was no evidence of any multiple endocrine neoplasia (MEN) syndrome embarrassing both the final diagnosis and the etiologic considerations. The patient had combination of three rare diseases: multiple sclerosis (the incidence in the world 1.14/100 000) (2), primary MPNST of the breast (less than 10 cases described) and medullary carcinoma (0.030.5/100 000) (3). The association by chance only would be highly unlikely. However, the detailed history provides no evidence of the most likely syndromes like NF1, or MEN, or any familial cancer syndrome. Therefore we share our evidence with colleagues to demonstrate a possible new oncological syndrome. Conflict of interest: None
Acta Chirurgica Latviensis – de Gruyter
Published: Jan 1, 2010
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