Myxofibrosarcoma of Head and Neck Region – A Rare Case Report

Abstract

Myxofibrosarcoma (MFS) is a rare subtype of soft tissue sarcoma that usually occurs in the extremities of the body. Its location in the head and neck region is unique. Surgery is the primary treatment for all non-metastatic MFS. It has high rates of local recurrence and metastasis. Like other soft tissue sarcomas, the aim of adjuvant treatment is to decrease the chances of local recurrence or metastasis in MFS. Due to its rarity, there is a lack of data showing the benefit of adjuvant treatment in MFS of the head and neck region. We are presenting a case report and literature review on MFS in the head and neck.

Introduction

MFS is a distinct type of soft tissue sarcoma that primarily affects the extremities (lower > upper) and trunk. It is rarely seen in the head and neck, accounting for nearly 1% of all malignancies in this region [1]. MFS occurs in late adult life, with a peak incidence between the fifth and seventh decades. Men are more likely to have it than women. MFS mostly arises in the subcutaneous tissue, then in deep soft tissue. Its aggressive nature causes invasion of nearby structures such as bone, vessel, or nerve, which presents in the head and neck as swelling, paresthesia, loose teeth, or ulceration of the mucosa just beneath the skin. It has a higher rate of local recurrence and metastasis than other soft tissue sarcomas [2]. The main treatment for non-metastatic MFS is wide local excision [3]. The use of radiation therapy in MFS after extensive surgical resection has demonstrated a modest effect in reducing the local recurrence rate [4]. However, due to anatomical and surgical limitations, adjuvant radiation may prove beneficial in improving local control of head and neck MFS over other sites. MFS has a dismal prognosis, with recurrence occurring within a year following treatment [5].

Case Presentation

A 49-year-old male, with no comorbidities or addictions, presented with painless swelling on the right side of his face for the past 3 months. The swelling gradually increased in size and caused difficulty in opening the mouth. He had a history of right upper molar tooth extraction 5 months ago and gave no history of any trauma or previous surgeries. Physical examination revealed a firm, non-tender, immobile mass measuring approximately 3.0 by 3.0 cm in the right maxillary region. Mouth opening was limited to two fingers. The overlying skin was intact, and no lymph nodes were palpable. Cone beam computed tomography (CBCT) of the face and neck showed a large soft tissue mass in the right posterior maxilla with complete loss of the posterior part of maxillary bone and effacement of the right medial and lateral pterygoid plates. No cervical lymphadenopathy was seen.

He underwent a biopsy of the lesion that showed the presence of a pleomorphic spindle cell neoplasm. Histological examination with hematoxylin and eosin (H & E) staining showed capillary-like blood vessels with branching or curvilinear configurations (Fig. 1 (a)) and the presence of pseudo-rosettes composed of hyalinized collagen surrounded by a palisade of neoplastic cells (Fig. 1 (b)).

Fig. 1.

(a) Showing elongated and curvilinear blood vessels, (b) Showing pseudo-rosettes of collagen surrounded by neoplastic cells

He underwent a right infrastructural maxillectomy and reconstruction with a split skin graft. Post-operative histopathology showed a 4.5 × 3.8 × 3.0 cm tumor arising from the mucosa in the right maxillary region, infiltrating and eroding the postero-lateral and medial parts of the right maxilla along with pterygoid plates. Margins were free, with the nearest margin being 0.8 cm from lateral soft tissue mucosa. There was no lympho-vascular or perineural invasion. Mitosis was 2 in 10 high-power fields and no necrosis was seen. On immunohistochemistry (IHC), it was positive for vimentin while negative for CK, EMA, MUC4, p40, SMA, S100, desmin, GFAP, and CD-34. Due to radiological evidence of maxillary infiltration along with the characteristic presence of pseudo-rosettes on histology and vimentin positivity, low-grade myxofibrosarcoma was favored.

The case was discussed in a multi-disciplinary board and advised for adjuvant radiation treatment. The patient received external beam radiotherapy to a dose of 60 Gy in 30 fractions at 2 Gy per fraction by image-guided radiotherapy technique (IGRT) on a 6-megavoltage linear accelerator. The patient was followed up every 3 months after completion of treatment for the next 24 months, with no evidence of disease recurrence or metastasis on magnetic resonance imaging (MRI) done every 6 months (Fig. 2). There was no long-term morbidity or toxicity associated with surgery and radiation treatment, respectively.

Fig. 2.

2-year post-op T2-weighted axial image of the face showing post-op bed with no enhancement

Discussion

MFS includes a range of malignant fibroblastic tumors with myxoid stroma, variable pleomorphism, and characteristic curvilinear vasculature [6]. The local recurrence rate for all grades of MFS is similar, ranging from 16 to 57%. Grading served as a prognosticate marker as it predicted the likelihood of distant metastases and overall survival (OS) [7].

MFS usually develops in the proximal extremities and trunk region, with a mean age of 65 years. Men are affected slightly more often than women. Approximately 3% of all MFS cases occur in the head and neck region. About 38 cases of MFS in the head and neck have been reported (Table 1), of which few patients underwent adjuvant radiation treatment. Sites such as the thyroid gland were associated with poor treatment response while the maxilla and mandible had better outcomes. There are high chances of local tissue invasion in MFS that can be seen using imaging techniques like magnetic resonance imaging (MRI) and CT scans.

Table 1.

38 reported cases of myxofibrosarcoma of the head and neck region

Case no.	Author/year	Sex/ age	Location	Grade	Treatment (S/RT/CT)	Tumor margin (P/N)	Local recurrence (Yes/No)	Metastasis (Yes/No)	Follow-up (months)/ Status
1.	Kummona et al., 1975	M/35	Mandible	NK	S	N	No	No	24/Alive
2.	Blitzer et al., 1981	M/66	Sphenoid sinus	NK	RT	NK	NK	NK	3/Died
3.	Pomerantz et al., 1982	M/58	Maxillary sinus	NK	S	NK	NK	NK	NK
4.	Barnes et al., 1988	F/67	Sphenoid sinus	NK	S + RT	N	No	No	8/Alive
5.	Imai et al., 2000	F/52	Orbit	Low	S	N	No	No	NK
6.	Lam PK et al., 2002	M/55	Sphenoid sinus	Int.	S	N	No	No	8/Alive
7.	Iguchi et al., 2002	M/54	Maxillary sinus	NK	S	NK	NK	NK	NK
8.	Udaka T et al., 2002	M/55	Neck	NK	S	N	No	No	27/Alive
9.	Nishimura G et al., 2006	M/69	Hypopharynx	NK	S	P	No	No	16/alive
10.	Enoz et al., 2007	F/36	Maxillary sinus	Low	S + RT/CT	P	No	No	24/Alive
11.	Enomoto K et al., 2008	M/68	Sphenoid sinus	NK	NK	NK	NK	NK	NK
12.	Wang M et al., 2008	F/63	Orbit	Low	S	P	Yes	No	2/Died
13.	Kouassi et al., 2009	F/45	Thyroid	NK	S	NK	NK	NK	NK
14.	Gugatschka M et al.,2010	M/79	Hypopharynx	Low	S	N	No	No	24/Alive
15.	Zouloumis et al., 2010	M/23	Mandible	Low	S	N	No	No	39/Alive
16.	Li X et al., 2010	F/37	Parotid	Low	S + RT	N	No	No	8/Alive
17.	Zhang Q et al., 2010	F/27	Orbit	High	S + RT/CT	N	No	No	6/Alive
18.	Srinivasan B et al., 2011	F/78	Parotid	High	S + RT + CT	P	No	No	18 /Alive
19.	Norval EJG et al., 2011	M/69	Maxillary sinus	Low	RT/ CT	NK	NK	NK	12/Died
20.	Gire J et al., 2011	M/17	Orbit	Low	S	P	No	No	24/Alive
21.	Park et al., 2011	M/59	Mandible	High	S + RT	N	No	No	12/Alive
22.	Taghi et al., 2012	F/50	Maxillary sinus	Low	S + RT	N	No	No	24/Alive
23.	Qiubei Z et al., 2012	M/42	Hypopharynx	Low	S	N	No	No	36/Alive
24.	Nakahara S et al., 2012	M/52	Maxillary sinus	Low	S + RT	N	No	No	20/Alive
25.	Cante D et al., 2013	M/66	Maxillary sinus	Low	RT/CT	NK	No	Yes	18/Alive
26.	Darouassi Y et al., 2014	F/74	Thyroid	High	S + RT + CT	P	Yes	No	1/Died
27.	Salama et al., 2014	F/76	Thyroid	Low	S + RT	N	No	No	2/Alive
28.	Dell’Aversana OG et al., 2014	M/35	Maxillary sinus	Low	S + RT	N	No	No	27/Alive
29.	Nallapu et al., 2015	M/19	Maxillary sinus	High	Palliative RT	NK	NK	NK	6/Died
30.	Kargahi et al., 2016	M/61	Mandible	Low	S + RT/CT	P	No	No	10/Alive
31.	Wong A et al., 2017	F/61	Maxillary sinus	High	S + RT	N	No	No	NK
32.	Clair et al., 2018	F/87	Orbit	Low	S + RT	N	No	No	48/Alive
33.	Xia-ting et al., 2019	M/46	Scalp	Low	S	N	No	No	19/Alive
34.	Zhengqiang et al., 2020	F/51	Mandible	Low	S	N	No	No	20/Alive
35.	Zhang et al., 2021	F/20	Scalp	High	S + RT	P	Yes	No	18/Alive
36.	Yao et al., 2021	M/66	Maxillary sinus	High	S + RT	N	No	No	8/Alive
37.	Chaitra et al., 2022	M/18	Neck	High	S + RT	N	NK	NK	NK
38.	Stylianidis et al., 2022	M/61	Thyroid	High	S + RT	N	Yes	No	1/Died

The differential diagnosis based on its morphology includes spindle cell lipoma, intramuscular myxoma, nodular fasciitis, dedifferentiated liposarcoma, and myxo-inflammatory fibroblastic sarcoma. A myxofibrosarcoma diagnosis based solely on morphologic features is challenging and insufficient. Immunohistochemistry (IHC) studies are necessary to confirm MFS. Vimentin and CD 34 are present in tumor cells, while cytokeratin, S-100, desmin, p63, and HHF 35 are absent. The diagnosis is also supported by molecular testing, which frequently reveals chromosomal translocations, such as the translocation of chromosomes 7 and 16, which results in the fusion of the FUS and CREB3L2 genes in low-grade myxofibrosarcoma.

According to the European Society for Medical Oncology-European Reference Network on Rare Adult Cancers (ESMO-EURACAN) recommendation, surgical excision with 2 cm margins followed by radiation therapy offers the best potential for improving local control in soft tissue sarcoma [8]. Radiation therapy is effective in reducing local recurrence of MFS in the extremities [9]. However, the benefit of radiation therapy in MFS of the head and neck region is not known due to its rare occurrence. Chemotherapy has shown slight improvement in overall survival and distant control of soft tissue sarcoma.

We present this rare case of MFS of the head and neck region. The addition of radiation therapy after surgery in the head and neck showed improved loco-regional control that might translate into better overall survival.

Like all MFS, long-term follow-up and surveillance are required in head and neck MFS.

Conclusion

Surgical excision with a clean wide margin is difficult in head and neck MFS. Due to its infiltrating nature and surgical limitations, adjuvant therapy might help in reducing the rates of local and distant recurrences in the head and neck. This case showed that adjuvant radiation therapy in MFS of the head and neck region can improve loco-regional control compared to other regions of the body. Previous data have shown little benefit of adding radiation therapy and chemotherapy in all sarcomas. We require a compilation of case reports and follow-up data to formulate a treatment for MFS of the head and neck region.

Declarations

Ethics approval

This study was performed in accordance with ethical standards as laid down in the 1964 Helsinki Declaration and its later amendments.

Informed consent

Is not required.