Ectomesenchymal chondromyxoid tumours (ECTs) are rare mesenchymal soft tissue neoplasms that typically present as a slow-growing asymptomatic mass on the anterior dorsum of the tongue. Our patient presented with impaired speech articulation and pain associated with upper respiratory tract infections when the lesion on his dorsal tongue would swell, and he would accidentally bite down on it. Microscopically, ECTs appear as unencapsulated, well-circumscribed proliferations of uniform round to fusiform cells embedded within chondromyxoid matrices. Most cases of ECT have been detected in the third to the sixth decades of life, with no sex preference. ECT may cause a range of symptoms that negatively impact patients’ quality of life, including pain, dysphagia, odynophagia, bleeding, and, in the case of our patient, impairment of speech. We provide a unique preoperative clinical photograph and case description that should help readers in recognizing this neoplasm. Considering the rarity of ECT presenting clinically as well as in the literature, we believe this report will add to our growing understanding of ECT and its management. We report a case of ECT presenting on the anterior dorsal tongue that was successfully surgically resected under local anesthesia with clear margins, accompanied by a review of the pertinent literature.
Ectomesenchymal chondromyxoid tumours (ECTs) are rare mesenchymal soft tissue neoplasms that typically present as a slow-growing asymptomatic mass on the anterior dorsum of the tongue, or, much less frequently, on the posterior tongue [
The patient is a 51-year-old male with a 15-year history of a slow-growing midline dorsal tongue lesion that was not causing any compressive symptoms. He had not experienced dysphagia or any impairment to his airway; however, the tongue lesion more recently resulted in a change in his speech articulation. He noted that there was only pain associated with upper respiratory tract infections, when the lesion would swell and he would occasionally bite down on it, resulting in mild bleeding. The patient was otherwise healthy. His previous history included diverticulitis in the descending colon, a hernia repair, colonoscopy, and chronic knee pain for which he was awaiting arthroscopy. His medications included ibuprofen and celecoxib and he had no known allergies.
On oral examination, a 2.5 cm high × 1.5 cm wide dorsal tongue lesion with normal tongue papillae on the dorsal surface and mucosa on the undersurface was present (Figure
Preoperative photo demonstrating ectomesenchymal chondromyxoid tumour (ECT) of the dorsal tongue.
The patient was offered excision for definitive management and to establish a definitive diagnosis. This was done under local anesthesia with 5 mm margins. A midline glossectomy was performed with dissection into the midportion of the deep substance of the tongue. The patient tolerated the procedure well and on follow-up the tongue had healed nicely with no evidence of recurrent disease. The final pathology was in keeping with an ectomesenchymal chondromyxoid tumour (ECT) with negative margins.
Microscopically, the tumour was lobulated but generally well-circumscribed, extending from just beneath the surface epithelium into the underlying skeletal muscle. It consisted of ovoid to spindle-shaped cells with ill-defined cell borders and uniform nuclei (Figure
High-power image of tumour showing reticular pattern of uniform polygonal cells. From this photograph one can appreciate the ill-defined polygonal cell borders, on a background of pale grey-blue “myxoid” stroma (H&E stain, 400x).
ECT is a rare and benign neoplasm of the oral cavity, classified by the World Health Organization (WHO) in the pathologic spectrum of soft tissue myoepithelioma. The entity was first described by Smith et al. in 1995 [
Similarly to Smith et al.’s original findings, the vast majority of subsequently described ECTs have been documented on the anterior tongue surface, although there are a handful of cases in which tumours have been located on the posterior aspect of the tongue [
In Smith et al.’s original report, the ECTs had been documented as occurring in men and women aged 9 to 78 years, with a median age of 32 years. The tumour’s presence and growth ranged in duration from a few months to 10 years, and tumour size ranged from 0.3 cm to 2.0 cm [
Along with their original clinical review of ECT in 1995, to help with diagnosis, Smith et al. conducted thorough immunohistochemistry on the 19 cases presented. Results of this demonstrated strong positivity for glial fibrillary acidic protein (GFAP) in nearly all cases (18 of 19) and variable reactivity to CD-57/Leu-7 (8 of 9 cases were positive), occasionally positive for S100 (with these ranging from faintly to intensely positive), nonreactive to intensely reactive for cytokeratins AE1/AE3, and negative for epithelial membrane antigen (EMA) and desmin [
The immunohistochemistry performed for our patient’s ECT showed diffuse positivity for S100 and glial fibrillary acidic protein (GFAP), focal positivity (of variable intensity and extent) for keratin AE1/AE3, neuron specific enolase, smooth muscle myosin heavy chain, and muscle specific actin and desmin. Immunohistochemistry was negative for EMA, CK8/18, CK5/6, CD34, and p63. The presence of staining for markers of both epithelial (AE1/AE3) and muscle differentiation (myosin, actin, and desmin) supports the concept that ECT is related to soft tissue myoepithelioma.
A recent case by Shogo and Koda from 2015 described the potential usefulness of CD56 as an adjunct marker for diagnosis of ECT, arguing that its inclusion may result in more frequent encounters and resulting diagnoses of ECT [
Diagnosis of ECT takes into consideration the clinical, light microscopic, and immunohistochemical findings. In particular, the clinical, immunohistochemical, and histopathologic features of ECT still remain to be definitively established, in large part due to the scarcity of ECT in the literature. However, this lack of definition of ECT’s features likely also results from it being confused with or mistaken for other entities that share some of its histopathological features. Entities to include in the differential diagnosis include myoepithelioma, nerve sheath myxoma, mucocele, pleomorphic adenoma, oral focal mucinosis, glial choristoma, ossifying fibromyxoid tumour, chondroid choristoma, soft tissue myxoma, and cellular neurothekeoma [
Smith et al. originally offered several hypotheses in 1995 regarding the histogenesis of ECT, which is still a subject of dispute and remains to be established. Considering the tumour’s nearly exclusive location on the dorsal anterior segment of the tongue, which is known to be derived from the first branchial arch during embryogenesis, it is widely held that ECTs arise from uncommitted ectomesenchymal cells that migrated from the neural crest. This was one of Smith et al.’s hypotheses and remains widely held at this point in time, although theories of muscle cell and myoepithelial cell origins have also been considered [
Interestingly, a group of authors (as yet unpublished) have recently demonstrated EWSR1 rearrangement in a subset of 2 of 9 tumours [
ECT is a benign entity, though it can impact important functions such as swallowing and speech, thus affecting patients’ quality of life. Surgical excision remains the mainstay of treatment. Smith et al., in their original article, made note of rare recurrences of ECT following excision; in one case, the tumour was reexcised with repeat surgery and did not subsequently reappear, while follow-up information regarding the other recurrent ECT was not provided [
Ectomesenchymal chondromyxoid tumour (ECT) is an uncommon, benign tumour of the oral cavity that typically presents on the dorsum of the anterior tongue. The recommended treatment is conservative surgical removal. Further studies will need to be carried out to better delineate the histologic and genetic origins of this interesting and rare neoplasm.
Written informed consent was obtained from the patient for publication of this case report and any accompanying images.
The authors have no competing interests to declare.
Laura A. Schep drafted the paper and obtained Capital Health IRB Ethics approval. S. Mark Taylor performed the surgery and documented the clinical details of the procedure, which have been included in this paper, and has continued to follow up with the patient in the outpatient setting. S. Mark Taylor provided the clinical photograph for this paper. Martin J. Bullock performed immunochemistry assays and provided pathology images. All authors have edited, read, and approved the final version of the paper and agree to be held accountable for all aspects of the work.