Huge spindle cell sarcoma of esophagus in a middle-aged man with a recent-onset dysphagia: Case report

Abstract

Introduction

Esophageal sarcoma is a rare neoplasm of the gastrointestinal tract. The majority of the esophageal neoplasms have an epithelial origin. In this report, we present a case of a middle-aged man with an enormous spindle cell sarcoma whose symptoms initiated only a few weeks before diagnosis.

Presentation of case

A 41-year-old man with an unremarkable past medical history and physical examination presented with recent aggravation of cough and severe, progressive dysphagia to solid foods resulting in a 25-kilogram weight loss without any prior symptoms. He had no history of cigarette smoking and alcohol consumption. The CT scan showed a huge soft tissue mass with heterogeneous enhancement from the proximal esophagus to 4 cm above the gastro-esophageal junction, causing luminal bulging. Trans-hiatal esophagectomy and gastric pull-up were performed. Pathology report confirmed the diagnosis of sarcoma. Further pathological evaluation using immune-histochemical studies, confirmed the tumor as spindle cell sarcoma. The postoperative period was uneventful, and there were no signs and symptoms related to tumor recurrence one year after surgery.

Discussion

The most challenging aspect of diagnosing sarcomas is differentiating them from other pathologies, such as gastrointestinal stromal tumors, synovial sarcomas, sarcomatoid carcinomas, melanomas, and solitary fibrous tumors. Immunohistochemical studies play a vital role in this differentiation. Additionally, cytokeratin AE1/AE3 has been introduced as a marker of epithelial differentiation and can verify the presence of the epithelial component in tumors, such as in carcinosarcomas.

Conclusion

Considering the potential for an unusual size, sarcoma should be considered in a differential diagnosis for huge esophageal masses.

Highlights

• •Sarcomas including carcinosarcoma of the esophagus are rare diseases accounting for 0.1 %–1.5 % of all esophageal cancers.
• •Sarcomas often arise from the medial third of the esophagus, followed by the distal third and the proximal third, respectively.
• •Application of cytokeratin verifies the presence of the epithelial component of the tumor as in carcinosarcomas.
• •Fine needle aspiration biopsy of sarcomas may be inconclusive due to small number of cells retrieved.
• •Esophagectomy has been defined as the standard management option for esophageal sarcoma.

1. Introduction

Esophageal sarcomas, including carcinosarcoma, are rare diseases accounting for 0.1 %–1.5 % of all esophageal cancers [1]. In fact, the majority of esophageal neoplasms arise from the epithelium, which is in close contact with a variety of hazardous agents and carcinogens. Squamous cell carcinoma and adenocarcinoma comprise more than 95 % of esophageal cancers [2]. Melanoma and lymphoma are uncommon esophageal malignancies as well [3]. Sarcomas often arise from the medial third of the esophagus, followed by the distal third and the proximal third, respectively. Most esophageal sarcomas are not very large. Zhang et al. [4]., presented 71 cases of esophageal spindle cell carcinoma, where the tumor size was less than 5 cm in most cases, with the largest tumor being 13 cm in length.

Here, we present the case of a 41-year-old man with a huge pathologically proven spindle cell sarcoma, which is the largest tumor ever reported. This study has been reported in line with the SCARE 2018 criteria [5].

2. Case report

A 41-year-old man with a negative history of cigarette smoking and alcohol consumption was admitted to our center with a 2-month history of cough and severe progressive dysphagia to solids resulting in a 25 kg weight loss without any prior symptoms. His past medical history and physical examination were unremarkable. Endoscopic ultrasound (EUS) study revealed a hypoechoic fibrovascular lesion in the posterior mediastinum measuring more than 6 cm in size, impinging the aorta. A biopsy was taken, however the result was not diagnostic. Computed tomography scan (CT scan) showed a huge soft tissue mass with heterogenous enhancement from the proximal esophagus to 4 cm above the gastro-esophageal junction, bulging into the esophageal lumen and causing significant luminal narrowing (Fig. 1). Laryngoscopic investigation was insignificant. After discussing the case with the patient and obtaining his consent, trans-hiatal esophagectomy and gastric pull-up were performed. A cervical incision was made on the medial border of the left sternocleidomastoid muscle, and soft tissue was dissected to reveal the cervical esophagus. A large hypervascular mass arising from the proximal esophagus was revealed (Fig. 2), which was also palpable in the proximal part of the stomach when an abdominal incision was made. The esophagus was released from adjacent tissues of the esophageal hiatus. There was no objective evidence of metastasis in the adjacent tissues, lymph nodes and organs.

Fig. 1.

Computed tomography scan of the chest, sagittal view, depicting a large esophageal tumor (asterisk) causing sever stricture of the esophageal lumen (white arrow) and bulging toward the right pleural cavity.

Fig. 2.

Photograph depicting gross specimen of entire length of the esophagus (E) attached to proximal part of the stomach (G) by lower esophageal sphincter (LES). A very large tumor was originated from the upper third of the esophagus in three attached segments (asterisks), where in the later pathological evaluation was confirmed to be an esophageal sarcoma.

Histopathological examination of the tissue revealed a polypoid lesion with an obvious stalk measuring 15 × 7.5 × 4 cm originating from the proximal esophagus (Fig. 2). Microscopic examination showed a biphasic tumor with alternating hyper and hypocellular areas. Tumor cells were predominantly ovoid to slightly spindle without vivid borders and with clear to acidophilic cytoplasm. Few tumor cells showed large nuclei, most probably representing dystrophic atypia. Arborizing vessels were noted in some regions, especially in hypercellular areas. Mitotic figures were 12/10 HPF and about 30 % necrosis was detected (Fig. 3). Based on immunehistochemical study (IHC), gastrointestinal stromal tumor (GIST), synovial sarcoma, sarcomatoid carcinoma, melanoma, and solitary fibrous tumors were ruled out according to negative staining for CKAE1/AE3, EM, P63, DOG1, CKIT, BCL2, CD99, SOX10, S100 and STAT6. Desmin and SMA revealed weak cytoplasmic staining but h-caldesmon was negative. Proliferative activity (Ki-67 expression) was estimated to be 10 % (Fig. 4). Since 5–8 % of GISTs have mutation in PDGFRA [6] and this mutation usually occurs in exon 18 followed by exon 12 and exon 14 [7], a genetic testing analysis was performed on the formalin-fixed paraffin-embedded samples (FFPE) for PDGFRA within exon 18 and exon 12, but no mutation was detected.

Fig. 3.

A) Hypercellular areas of tumor with curvilinear vessels. B) Tumor cells had ovoid to plump nuclei with pale acidophilic nuclei and C) presence of scattered giant tumor cells. D) Large temporal necrotic areas are noted.

Fig. 4.

A) Negative immunostaining of CKAE1/AE3, B) CD34 highlights blood vessels and C) smooth muscle antigen (SMA) revealed weak and patchy cytoplasmic staining.

No adjuvant chemotherapy or radiotherapy was planned for the patient based on multidisciplinary team consultation and the fact that no lymph node involvement was found on histopathology report. Furthermore, adjuvant radiotherapy has devastating effect on gastric flap used to reconstruct GI continuity after esophagectomy, which makes it vulnerable to ischemia. Moreover, radiotherapy has negative impact on swallowing function of gastric tube. The postoperative follow-up sessions at 2 weeks, 1, 3 and 6 months postoperatively were uneventful regarding operation-related complications. Spiral chest CT scan showed no signs of recurrence at the last visit on the first year after surgery. The patient is on continued follow-up program.

3. Discussion

Esophageal sarcoma is uncommon [8], and a huge tumor of this type is rare. To the best of our knowledge, this case is the largest reported in the literature. The most common symptom of esophageal sarcomas is dysphagia as presented in our patient [9]. The clinical course of the disease showed a rapid and aggressive pattern, with the patient experiencing significant symptoms in a period of less than 2 months and a rapid aggravation of the symptoms in less than 2 weeks.

Cytokeratin AE1/AE3, also known as “pan-cytokeratin,” has been used as a marker of epithelial differentiation and is also found in mesenchymal neoplasms expressing glial fibrillary acid protein (GFAP) such as schwannoma [10]. Application of cytokeratin verifies the presence of the epithelial component of the tumor as in carcinosarcomas [11]. This marker was negative in our IHC evaluation, indicating that the tumor did not have any epithelial components. However, in most of the 71 cases of spindle cell carcinoma reported by Zhang et al., some of the cells had an epithelial origin [12]. It may suggest that contact with carcinogens have a role in the etiology of these tumors. Meanwhile, the tumor cells were focally positive for desmin and SMA, and 10 % of tumor cells were positive for Ki67. These findings contributed to a final diagnosis of malignant spindle cell sarcoma.

The initial attempt to determine the histopathologic nature of the tumor using a fine needle biopsy while performing EUS was not diagnostic. On the other hand, it is essential to consider that most of the cases with esophageal sarcoma require excisional biopsy for a definitive diagnosis [9,12].

Classically, esophagectomy has been defined as the standard management option for esophageal sarcoma [13]. Radiotherapy and chemoradiotherapy are the mainstay of complementary treatment for this tumor. Prioperative adjuvant therapy in esophageal sarcoma is not as common as esophageal adenocarcinoma or squamous cell carcinoma for following two reasons. First, preoperative diagnosis is usually difficult because biopsy specimens are incapable of encompassing all histological features of the tumor, making treatment plans to be vague. Second, no definitive efficacy has been shown using different chemotherapy or chemo-radiotherapy regimens for tumors containing sarcomatous components. Current literature suggests adding postoperative therapy in patients with lymph node metastasis of spindle cell carcinoma [14]. Also, these modalities can be reserved for some complicated and inoperable cases [15].

Based on the above evidence, radical surgical excision of the tumor was finally performed. No adjuvant radiotherapy or chemotherapy was administered. One year postoperatively, our patient is quite well and can take solids and fluids orally without any difficulty. He is followed up every six months in an outpatient setting.

4. Conclusion

Although esophageal sarcoma is not commonly observed, when a large mass is detected, it is important to consider this possibility. Surgical excision is currently the recommended treatment option. It would be beneficial to discuss further treatment strategies in multidisciplinary sessions, tailored to each individual patient.

Ethical approval

Ethical approval (IR.TUMS.IKHC.REC.1401.524) for this study was provided by the Ethics Committee of Tehran University of Medical Sciences, Tehran, Iran on 10 March 2023.

Sources of funding

This study was not funded nor granted.

CRediT authorship contribution statement

Anahita Mirzasadeghi. M. D.: Conception and Design of the study, Writing the paper.

Amirmohsen Jalaeefar. M. D.: Data collection and/or processing, Writing the paper.

Behnaz Jahanbin. M. D.: Critical review.

Foroogh Alborzi Avanaki. M. D.: Writing the paper, Critical review.

Amirsina Sharifi. M. D.: Writing the paper, Data collection and/or processing.

Guarantor

Amirsina Sharifi. M. D.

Registration of research studies

N/A.

Consent

Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.

Provenance and peer review

Not commissioned, externally peer-reviewed.

Declaration of competing interest

All authors declare that there is no conflict of interest to disclose.