Salvage tracheal surgery for symptomatic tracheal lesion, a rare primary pulmonary myxoid sarcoma: case report

Introduction

Background

Pulmonary myxoid sarcoma is a rare tumour with an endobronchial predominance, a propensity to occur in young adult women, and a molecular biological association with EWSR1-CREB1 fusions. Patients typically have high systemic or respiratory symptoms (1). Renal and brain metastases have been described in a small series of patients.

The most frequent histologies are squamous cell carcinoma and adenoid cystic carcinoma. Sarcomas are less common malignant primary tracheal tumours, as carcinoid, lymphoma, melanoma or mucoepidermoid carcinoma.

Rationale and knowledge gap

Regarding the subtypes of sarcoma, primary pulmonary myxoid sarcoma is not mentioned (2,3) and seems to be a differential diagnosis in particular of angiomatoid fibrous histiocytoma (4).

Tracheal tumours are mostly discovered during assessment of dyspnoea, cough, and haemoptysis. The gold standard treatment is surgery with resection anastomosis. Other treatments (like stenting, laser, or radiation) are used to treat inoperable patient or palliative situation (2).

Objective

This case report demonstrates the challenge of making a correct histological diagnosis and presents a successful surgical resection of an endotracheal pulmonary myxoid sarcoma. We present this article in accordance with the CARE reporting checklist (available at https://ccts.amegroups.com/article/view/10.21037/ccts-23-23/rc).

Case presentation

We present the case of a 26-year-old man with a 6-year recurrent tracheal tumour. This patient has no medical history but in 2016, a computed tomography (CT) scan done for haemoptysis assessment revealed a tracheal lesion of 22 mm × 17 mm × 15 mm. ¹⁸Fluorine-fluorodeoxyglucose-positron emission tomography (PET/CT) identified an isolated fixation with maximum standardized uptake value (SUVmax) 13.1. Biopsies by flexible bronchoscopy found a lymphocytic infiltrate suspected of corresponding to a small B-cell lymphoma of the MALT (mucosa-assisted lymphoid tissue) lymphoma type. There was no treatment following the diagnosis of MALT lymphoma because at the beginning, this diagnosis was only a suspicion (MALT type lymphoma is rare in the trachea). An endoscopic resection was therefore validated by the multidisciplinary consultation meeting, which found an inflammatory fleshy bud rich in plasma cells with no particular lymphomatous character and no rearrangement of the SS18 gene. Monitoring was therefore decided.

After 4 years of follow-up (yearly clinical follow-up by the pneumologist and CT-scan), he presented dyspnea for major efforts, and a CT scan (Figure 1A) revealed a recurrence of this tracheal tumour, with a lesion obstructing the trachea by 50–60%. The PET/CT identified an isolated hyperfixation (SUVmax =11). Endoscopic management was chosen to rule out lymphoma, which requires medical management.

Figure 1 Tracheal tumour recurrence diagnosis and bronchoscopic management. (A) Scannographic section before endoscopic excision. Bronchoscopy view before (B) and after (C) electrocautery and cryoablation.

So a diagnostic and therapeutic rigid bronchoscopy showed a tumoral growth on the posterior wall of the trachea 6 cm below the vocal cords, 5–6 cm above the carina, and 2 cm in height. The tumour was removed by electrocautery and forceps, and complementary cryotherapy was performed (Figure 1B,1C). The pathological examination was complex; the appearance was consistent with a low-grade inflammatory myofibroblastic tumour, anaplastic lymphoma kinase (ALK) negative. An additional molecular biology study revealed an EWSR1-CREB1 fusion, and finally a pulmonary sarcoma myxoma was diagnosed after an anatomopathological review by two anatomopathologists in a referral. The factors that led to the different diagnoses were the difficulty to confirm the anatomopathological diagnosis: firstly with a suspicion of sarcoma, and secondly with the fact that it took 4 months to obtain the results of the fusion transcript test.

Although chest CT scan showed no residual tracheal lesion (Figure 2A), systematic biopsies of the tracheal scar by flexible bronchoscopy showed persistence of myxoid sarcoma lesions without endotracheal recurrence (Figure 2B).

Figure 2 Endotracheal primary pulmonary myxoid sarcoma before and after surgical management. (A) Scannographic section preoperative. (B,C) Bronchoscopy view before surgery (B) and after end-to-end anastomosis (C).

A multidisciplinary consultation meeting of staff decided on surgical management upon given the recurrence of the tumour and the fact that it was in a single location. The patient has been informed of this decision and has given his written consent to undergo the surgery.

The patient underwent a tracheal end-to-end anastomosis resection. The approach was a cervicosternotomy to the 4^th intercostal space. A bronchoscopy was performed before the tracheal cut to ensure the resection margins. The resection extended from two tracheal rings below the tumour to one ring above (total length of 2.5 cm). The tracheal swabs were sent for extemporaneous examination and were benign. A Montandon probe was used for ventilation in the field. Concerning the end-to-end anastomosis, the membranous part was sutured with an overjet (absorbable thread size 4.0) and the cartilaginous part with separate stitches (absorbable thread size 3.0) with extra mucosal passage. To protect the suture, we interposed part of the thymus between the trachea and the brachiocephalic artery.

The postoperative period was simple, with discharge after 7 days. A bronchoscopic control at day 5 was satisfactory, with non-inflammatory sutures and no stenosis (Figure 2C).

The anatomopathology report confirmed the presence of the known pulmonary myxoid sarcoma, measuring a maximum of 3 mm in the long axis, coming within 0.3 mm of the tracheal circumferential edge, and at least 6 mm from the proximal longitudinal border. The EWSR1 rearrangement was found in the tumour site (Figure 3). The lesion was finally classified as R0.

Figure 3 Histopathological examination of primary pulmonary myxoid sarcoma. Anatomopathological slide showing the tumor invades the depth of the chorion, below the initial biopsy area, in the form of a nodule (A: scale bar 500 µm); the tumor shows spindle or round cells within prominent myxoid stroma (D: scale bar 20 µm) or collagenous stroma in more compact areas (C: scale bar 50 µm); staining method: hematoxylin-eosin-saffron stain; FISH shows a clear separation of red and green signals (arrows) within a single tumor cell, demonstrating the presence of a EWSR1 gene rearrangement (FISH) using EWSR1 dual-color break-apart probe (Break Apart Rearrangement probe, Abbott) (B). FISH, fluorescence in situ hybridization.

A multidisciplinary consultation meeting subsequently decided on medical surveillance. The patient underwent two bronchoscopies in the year following resection, as well as a CT scan. No recurrence was noted. Further follow-up will be clinical and scannographic once a year for a minimum of 5 years.

All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient for the publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Discussion

Key findings

We report a case of a young man who presented a rare primary pulmonary myxoid sarcoma. Diagnosis was difficult, molecular biology analysis and double anatomopathology expertise were necessary. A multidisciplinary consultation meeting decided on surgical management resulting in a standard tracheal end-to-end anastomosis resection.

Strengths and limitations

Surgically, complete resection is compromised by excessive tumour length or extensive radial growth into adjacent soft tissue and organs. Carinal resection in malignant tumours continues to have a higher risk than standard tracheal procedures and remains a challenge when the tumour’s length increases the strain on the remaining airway. In all other patients, segmental airway resection for rare tracheal tumours is a low-risk procedure.

Comparison with similar researches

Pulmonary myxoid sarcoma is a rare tumour with an endobronchial predominance, a propensity to occur in young adult women, and a molecular biological association with EWSR1-CREB1 fusions. Patients typically have high systemic or respiratory symptoms (1). Renal and brain metastases have been described in a small series of patients.

Gaissert et al. reported a retrospective surgical series of 90 patients with uncommon tracheal tumours. Thirty-four had benign and 56 had malignant tumours: 11 carcinoid tumours, 14 mucoepidermoid carcinomas, and 13 sarcomas. Five-year survival for sarcomas was 78%, and 10-year survival was 62%. In this analysis, no survivors were found at 5 years in patients with positive margins. Most tumours grow in or through the wall and therefore cannot be completely excised endoscopically (5).

Explanations of findings

Histologically, the diagnosis can be difficult, the mitotic index is low, and necrosis may be present. Pulmonary myxoid sarcoma can be confused with extraskeletal muscular chondrosarcoma. EWSR1-CREB1 fusions are predicted to be oncogenic. They are described in the literature in angiomatoid fibrous histiocytoma and in clear cell sarcoma. In immunohistochemistry, the antibodies against SOX10 and HMB45 were negative in clear cell sarcoma, and the antibodies against ALK were negative in angiomatoid fibrous histiocytoma (4).

Surgical resection of uncommon primary tracheal tumours alleviates airway obstruction, is curative in patients with benign or slow-growing malignant lesions, and prolongs survival in highly malignant lesions (5). As an alternative to surgical resection, endoscopic treatments (lasers and stents) are palliative treatments, reserved for unresectable tumours or patients with contraindications to surgery. Palliative radiation can also be used, mostly for management of airway obstruction symptoms (2).

Implications and actions needed

Tracheal tumours that are difficult to diagnose anatomopathologically should all be managed in a reference centre.

Even for rare sarcoma diagnoses, management remains standard. The use of bronchoscopy is necessary for diagnosis and may be useful for non-operable tumours but not for the treatment of localised lesions.

We must maintain and pass on this expertise in tracheal surgery, which provides excellent results even for rare and little-known tumours.

Conclusions

In conclusion, tracheal primary pulmonary myxoid sarcoma remains a rare but surgically treatable tumour. The treatment of choice for these resectable lesions of questionable diagnosis appears to be tracheal resection with free margins and end-to-end anastomosis. Incomplete resection is associated with a high local recurrence rate. Bronchoscopy appears to be an essential tool for diagnostic management and can be used if the patient is not operable or the tumour is too advanced in order to alleviate airway obstruction.

Acknowledgments

Funding: None.

Footnote

Reporting Checklist: The authors have completed the CARE reporting checklist. Available at https://ccts.amegroups.com/article/view/10.21037/ccts-23-23/rc

Peer Review File: Available at https://ccts.amegroups.com/article/view/10.21037/ccts-23-23/prf

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://ccts.amegroups.com/article/view/10.21037/ccts-23-23/coif). A.S., R.A., E.S., A.P., and J.D.W. have received personal fees from Pentax. C.F. has received personal fees from Olympus France for organizing education sessions and received personal fees as a consultant for Ambu, TSC Endovision, and Pentax. R.D. has received personal fees as consultant for Recordati, Eusapharma, Owkin, KYOWA KIRIN, and Roche. The other author has no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient for the publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

References

1. Thway K, Fisher C. Tumors with EWSR1-CREB1 and EWSR1-ATF1 fusions: the current status. Am J Surg Pathol 2012;36:e1-e11. [Crossref] [PubMed]
2. Madariaga MLL, Gaissert HA. Overview of malignant tracheal tumors. Ann Cardiothorac Surg 2018;7:244-54. [Crossref] [PubMed]
3. Gao CP, Liu JH, Hou F, et al. Low-grade chondrosarcoma of the cricoid cartilage: a case report and review of the literature. Skeletal Radiol 2017;46:1597-601. [Crossref] [PubMed]
4. Bouma W, Koning KJ, Suurmeijer AJH, et al. Hybrid bronchoscopic and surgical resection of endotracheal angiomatoid fibrous histiocytoma. J Cardiothorac Surg 2019;14:48. [Crossref] [PubMed]
5. Gaissert HA, Grillo HC, Shadmehr MB, et al. Uncommon primary tracheal tumors. Ann Thorac Surg 2006;82:268-72; discussion 272-3. [Crossref] [PubMed]