Esophageal lymphangioma: A case report and review of literature

Abstract

BACKGROUND

Esophageal lymphangioma is a rare benign tumor, and its clinical characteristics and treatment methods warrant attention. In this report, we describe a case of esophageal lymphangioma.

CASE SUMMARY

The 48-year-old male patient came to our hospital for a health examination one month ago. An endoscopic examination revealed a protruding lesion in the esophagus, which was completely resected via endoscopic submucosal dissection. Pathological examination of the resected specimen confirmed the diagnosis of a lymphangioma. We have also summarized and compiled previously reported cases of esophageal lymphangioma.

CONCLUSION

Esophageal lymphangioma is a rare benign tumor, and endoscopic minimally invasive treatment represents a safe and effective therapeutic approach.

Key Words: Esophageal lymphangioma; Benign tumor; Endoscopic submucosal dissection; Endoscopic ultrasound; Minimally invasive treatment; Case report

Core Tip: Esophageal lymphangioma is an exceedingly rare benign tumor that has been infrequently reported for nearly a century. Given the rarity of this condition, it is imperative for clinicians to possess a comprehensive understanding of its clinical manifestations, pathogenesis, and the findings from endoscopic and imaging studies. Furthermore, summarizing previous treatment methods, their efficacy, and associated complications is crucial. All these will enhance clinicians' diagnostic capabilities and aid in the formulation of appropriate treatment strategies for this disease.

INTRODUCTION

Lymphangioma is a tumor characterized by the proliferation or dilation of lymphatic endothelial cells within lymphatic vessels. This type of tumor can manifest in any anatomical region containing lymphatic vessels, although it is most commonly found in areas such as the head and neck, axilla, and mediastinum[1]. Lymphangiomas are generally considered benign lesions. Although lymphangiomas are infrequently observed in the gastrointestinal tract, reports of such cases in the esophagus are even rarer[2]. Due to their rarity, there are few international reports available. Therefore, this article presents a case of successful complete resection of an esophageal lymphangioma via endoscopy. We also summarize and compile previously reported cases of esophageal lymphangioma[3-28].

CASE PRESENTATION

Chief complaints

The 48-year-old male patient came to our hospital for a health examination one month ago. An endoscopic examination revealed a protruding lesion in the esophagus.

History of present illness

The patient was healthy and without any uncomfortable symptoms.

History of past illness

The patient had a history of gastrointestinal polyps and a history of endoscopic treatment.

Personal and family history

The patient had no history of smoking and alcohol consumption, and his family history was unremarkable.

Physical examination

His vital signs were stable, and a physical examination showed no notable findings.

Laboratory examinations

Laboratory tests indicated hyperlipidemia, with a cholesterol level of 5.38 mmol/L and a triglyceride level of 2.20 mmol/L. All other results were within normal limits.

Imaging examinations

During esophagogastroduodenoscopy, a protruding lesion was identified in the lower segment of the esophagus, which measured approximately 1.5 cm × 0.8 cm. The surface mucosa appeared smooth, and its color was consistent with the surrounding mucosa (Figure 1A). Endoscopic ultrasound (EUS) examination suggested that the esophageal lesion was situated in the submucosal layer, appearing as a mixed hypoechoic mass characterized by internal inhomogeneity and visible minute septal-like changes, with no significant blood flow signals detected (Figure 1B). Chest computed tomography (CT) revealed localized wall thickening in the lower segment of the esophagus (Figure 1C).

Figure 1 Diagnostic features of esophageal lymphangioma. A: Endoscopic examination reveals a hemispherical mucosal elevation measuring approximately 1.5 cm × 0.8 cm in the lower segment of the esophagus, with a smooth surface and color consistent with the surrounding mucosa; B: Endoscopic ultrasound indicates that the lesion is located in the submucosal layer, presenting as a mixed hypoechoic mass with heterogeneous internal structure, exhibiting small septal changes and no significant blood flow signal; C: Chest computed tomography suggests localized wall thickening in the lower segment of the esophagus; D: Histological examination reveals numerous dilated tubular structures within the lamina propria; E and F: Immunohistochemical analysis indicated cluster of differentiation 31 positivity and partial positivity for D2-40, confirming the diagnosis of esophageal lymphangioma.

FINAL DIAGNOSIS

Submucosal mass of esophagus of an uncertain nature.

TREATMENT

The auxiliary examination results indicated that the esophageal mass was a localized lesion, showing no evidence of distant metastasis or involvement of surrounding organs. The size of the lesion was appropriate for endoscopic minimally invasive resection. Given the uncertainty regarding the nature of the mass and the patient’s request for complete removal, a decision was made to perform endoscopic submucosal dissection (ESD) after thorough communication and assessment of the condition between the endoscopist and the patient.

OUTCOME AND FOLLOW-UP

The lesion was completely resected by ESD. The tumor had a broad-based elevated structure (0-Is), measuring 1.5 cm × 0.8 cm, with both horizontal and vertical margins free of malignancy. Histopathological analysis revealed numerous dilated luminal structures within the lamina propria (Figure 1D), while immunohistochemical analysis demonstrated cluster of differentiation (CD) 31 positivity (Figure 1E) and partial positivity for D2-40 (Figure 1F). The pathological examination confirmed a diagnosis of esophageal lymphangioma. The patient experienced no postoperative complications and was discharged after three days of hospitalization. During follow-up one month later, the patient reported no significant discomfort.

DISCUSSION

Lymphangioma is a benign tumor that primarily occurs in regions such as the head and neck, axilla, and mediastinum. It can manifest as a solitary lesion or as multiple lesions[1]. According to Wegener’s classification, lymphangiomas can be categorized into simple, spongy, or cystic types[11]. Lymphangiomas have a low incidence in the gastrointestinal tract, with esophageal lymphangiomas being particularly rare[2]. Since the initial case reported by Watson-Williams in 1934, only 44 cases have been documented in the literature to date, as illustrated in Table 1[3-28]. All patients were adults, with an average age of approximately 52 years (range 30-77 years). Of these patients, 28 were male and 17 were female, with lesions primarily located in the middle and lower segments of the esophagus. These lesions predominantly presented as solitary lesions, most of which had a diameter less than 2 cm. The clinical manifestations of patients with esophageal lymphangiomas are non-specific and may correlate with the size and location of the mass. Symptoms can include dysphagia[7,10,12,20], upper abdominal discomfort[28], heartburn[9], nausea[18], vomiting[3,6], and chest pain[3,8,14]; however, some patients may exhibit no obvious clinical symptoms[21].

Table 1 Cases of esophageal lymphangiomas reported in the literature since 1934.

Case	Year	Ref.	Country	Gender	Age (years)	Site	Size (cm)	Chief complaints	Treatment
1	1934	Watson-Williams[3]	United Kingdom	Male	61	L	NA	Chest pain, vomiting	Observation
2	1973	Brady and Milligan[4]	United States	Female	62	U	5	Epigastric pain	Observation
3	1979	Armengol-Miro et al[5]	Spain	Male	64	L	1	Epigastric pain	Snare polypectomy
4	1980	Tamada et al[6]	Japan	Male	46	L	NA	Dysphagia and vomiting	Open surgery
5	1983	Liebert[7]	United States	Male	58	L	1.5	Dysphagia	Snare polypectomy
6	1990	Castellanos et al[8]	Spain	Female	66	M	2 × 1.5	Chest pain	Open surgery
7	1994	Yoshida et al[9]	Japan	Male	55	M	4	Heartburn	Open surgery
8	1996	Suwa et al[10]	Japan	Female	52	L	2.2 × 2	Dysphagia	Snare polypectomy
9	1998	Scarpis et al[11]	Italy	Male	64	L	1.5	Epigastric pain	Snare polypectomy
10	2002	Lee et al[12]	Korea	Male	37	M, L	NA	Dysphagia	INF α2a and partial polypectomy
11	2004	Yoon et al[13]	Korea	Male	72	L	5.1 × 2.3	Vomiting	Open surgery
12	2005	Saers et al[14]	Germany	Female	52	L	0.7	Dysphagia, abdominal discomfort, chest pain	EMR
13	2007	Sushil et al[15]	United States	Male	68	L	1.5	Heartburn	Snare electrocautery
14	2008	Best et al[16]	United States	Male	64	U	3.5 × 2.2; 2.0 × 1.4	Vertigo and neck pain	CO2 laser resection
15	2008	Seybt et al[17]	United States	Male	53	L	4	Dysphagia, regurgitation	Open surgery
16	2010	Arashiro et al[18]	Japan	Female	33	L	1.9 × 1.5	Nausea and heartburn	ESD
17	2011	Lee et al[19]	Korea	Male	55	M	0.7	None	Endoscopic resection with band ligation
18	2012	Xue et al[20]	China	Male	58	M, L	10 × 2.5 × 1; 6 × 5 × 4	Dysphagia	Open surgery
19	2013	Zhao et al[21]	China	2 females + 4 males	35-77	1 U + 4 M + 3 L	0.4-1.2	Asymptomatic	Dual-channel endoscopic; resection
25	2015	Barbosa et al[22]	Portugal	Male	54	L	1.2	None	Observation
26	2017	Luo et al[23]	China	Male	41	L	6 × 1	Dysphagia	Endoscopic piecemeal mucosal resection
27	2017	Zhao et al[24]	China	Male	59	M	NA	Choking	EMR
28	2018	Hu et al[25]	China	Male	46	M, L	16 × 6 × 4	Dysphagia	ESD
29	2018	Min and Liu[26]	China	Female	44	M	7	Dysphagia	Snare electrocautery
30	2018	Cheng et al[27]	China	Female	48	U	1.5 × 1.2 × 1	Dysphagia	ESD
31	2022	Shi et al[28]	China	8 females + 6 males	30-71	Unknown	0.22-4	Bloating, abdominal pain, regurgitation, foreign body sensation	13 EMR + 1 ESD
45	2025	Our case	China	Male	48	L	1.5 × 0.8	Asymptomatic	ESD

L: Lower esophagus; U: Upper esophagus; M: Middle esophagus; NA: Not available; INF: Interferon; ESD: Endoscopic submucosal dissection; EMR: Endoscopic submucosal resection.

Endoscopic examination is a crucial method for diagnosing esophageal lymphangiomas. Previous reports have documented cases exclusively in adults, suggesting that esophageal lymphangiomas may be more readily identified after adulthood. On white light endoscopy, esophageal lymphangiomas typically appear as sessile, hemispherical lesions with a smooth surface that matches the color of adjacent mucosa. This presentation can be challenging to differentiate from conditions such as esophageal leiomyomas, stromal tumors, and cysts. EUS can determine the nature of lesions by displaying their ultrasound characteristics, including the origin layer, size, boundaries, echogenicity, and the presence of echoes, which aids in evaluating the subsequent steps for choosing between endoscopic surgery and surgical resection[29]. Previous cases of esophageal lymphangiomas were typically found in the submucosal layer. In the present case, the EUS examination indicated that the lesion was located in the submucosal layer, presenting as a mixed hypoechoic mass with internal heterogeneity, displaying a honeycomb-like change, and without significant blood flow signals. Chest CT can reflect the relationship between esophageal masses and adjacent organs, as well as the presence of metastasis. For submucosal esophageal tumors, a comprehensive analysis of their location, size, EUS findings, CT results, and the patient’s treatment preferences is necessary to develop an appropriate, safe, and effective treatment plan for the patient.

The treatment methods for esophageal lymphangioma depend on factors such as the size and location of the lesion, as well as the patient’s symptoms. In addition, treatment techniques are continually being updated and iterated with advancements in technology. Previous literature indicates that lesions smaller than 2.5 cm are predominantly removed via endoscopic resection, whereas those larger than 2.5 cm are more frequently addressed through open surgery[22]. Previous literature has documented various endoscopic treatment methods. Among these, endoscopic mucosal resection is primarily utilized for lesions smaller than 1 cm[14,24,28], while snare polypectomy[7,10,11,15], and ESD[18,27] are more commonly applied to lesions measuring between 1 cm and 2 cm. Additionally, some less common endoscopic techniques have been reported; for instance, Korean endoscopists have successfully excised two cases of esophageal lymphangioma using endoscopic resection with band ligation and interferon α2a in conjunction with partial polypectomy[12,19]. Furthermore, a case of endoscopic submucosal resection employing CO₂ laser resection was described by Best et al[16]. With the continuous maturation and advancement of gastrointestinal endoscopy technology, we are entering a new era of super minimally invasive surgery, where endoscopic minimally invasive resection is poised to become the predominant surgical approach for esophageal lymphangiomas. Notably, Chinese scholars Luo et al[23] and Hu et al[25] have reported successful resection of giant esophageal lymphangiomas utilizing ESD. Zhao et al[21] reported that dual-channel endoscopic resection is also a new technique capable of effectively removing esophageal lymphangiomas. Regardless of the treatment method used, ensuring patient safety and minimizing complications remains crucial.

Pathological diagnosis serves as the primary basis for identifying esophageal lymphangioma, which is characterized by the irregular dilation of lymphatic vessels and the proliferation of endothelial cells[22]. The lumens of these vessels are filled with lymphatic fluid, and lymphocyte aggregation is observed in the surrounding areas. Furthermore, the positive expression of CD31 and D2-40 is significantly valuable for a definitive diagnosis[25]. In this case, the patient’s tissue type exhibited numerous dilated, lumen-like structures in the lamina propria, and immunohistochemistry revealed CD31 positivity and partial positivity for D2-40, with pathological results confirming the diagnosis of esophageal lymphangioma.

CONCLUSION

Esophageal lymphangioma is a rare benign tumor of the esophagus, characterized by nonspecific clinical manifestations in patients. EUS effectively demonstrates the tumor’s size, origin layer, and depth. Imaging examinations reveal its relationship with surrounding organs, providing crucial evidence for determining the surgical approach. The positivity of CD31 and D2-40 serves as significant pathological diagnostic criteria. With the increasing number of case reports, it is anticipated that clinical practitioners will develop a deeper understanding of this disease.