Synchronous Oral Heterotopic Gastrointestinal Cyst and Oral Squamous Cell Carcinoma: First Case Report

doi:10.21203/rs.3.rs-5313009/v1

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Case Report

Synchronous Oral Heterotopic Gastrointestinal Cyst and Oral Squamous Cell Carcinoma: First Case Report

https://doi.org/10.21203/rs.3.rs-5313009/v1

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Background.

Synchronous lesions in the oral cavity are uncommon and present diagnostic challenges, particularly when a benign lesion coexists with a malignancy. Heterotopic gastrointestinal cyst of the oral cavity (HGIC), typically seen in pediatric patients, contains ectopic gastrointestinal tissue and is rarely found in adults. This report describes a case of a HGIC in an adult patient concomitant with oral squamous cell carcinoma (OSCC), which is believed to be the first report of this unique entity.

Methods and results.

A 62-year-old man presented with an ulcerated lesion on the right floor of the mouth. An incisional biopsy was performed, and the pathology revealed that it was an HGIC with a pathological cavity lined by tall columnar epithelial cells with basally displaced nuclei and apical microvilli (brush border), synchronous with an SCC exhibiting a proliferation of epidermoid cells with moderate cellular atypia, pleomorphism, and nuclear hyperchromatism. The patient is currently undergoing regular follow-up, with further evaluations planned to monitor local disease control and prevent potential complications.

Conclusion.

Early and accurate identification of coexisting lesions may be crucial for effective clinical management and a broader understanding of the pathogenesis of these conditions.

Cysts

Heterotopia

Intestines

Oral Cavity

Squamous Cell Carcinoma

Simultaneous lesions, also known as synchronous lesions, are characterized by the occurrence of two or more lesions in different anatomical sites simultaneously.¹ When these lesions are diagnosed within a six-month interval, they are classified as metachronous, provided that recurrences or metastases are excluded.^2,3 Although relatively common in the head and neck region, concomitant lesions encompass a wide range of diagnoses, from benign conditions such as hyperplasia to malignancies.^4,5

Among head and neck malignancies, oral cancer stands out due to its high prevalence and significant contribution to global mortality.⁶ Oral squamous cell carcinoma (OSCC) often presents in conjunction with other simultaneous lesions, both benign and malignant, which can complicate diagnosis and clinical management.⁷ Metachronous lesions associated with OSCC are more frequent than synchronous ones, but both scenarios pose considerable diagnostic challenges.^8–13

Heterotopic gastrointestinal cyst of the oral cavity is a rare and benign condition, characterized by the presence of ectopic gastrointestinal tissue in an unusual location,^14–16. Although typically diagnosed in childhood, this condition can also occur in adults.^17,18 The etiology of this cyst is poorly understood, but the most accepted hypothesis suggests that during embryonic development, endodermal cells may migrate to an abnormal location^19,20. Clinically, the cyst may be asymptomatic, but in cases of significant growth, it may interfere with feeding and oral function.¹⁹ Among the most affected anatomical regions, the tongue, the floor of the mouth.^19,21

This case report describes a rare and unprecedented combination of oral heterotopic gastrointestinal cyst associated with concomitant OSCC, with no previous reports in the literature. Therefore, this is the first report of this condition.

A 62-year-old Caucasian male presented with the chief complaint of discomfort in the floor of the mouth. Intraoral clinical examination revealed a crater-like ulcerated lesion, approximately 2 cm in diameter, with raised and indurated borders. The lesion had an 8-month history. The patient had a significant history of smoking for 36 years and regular alcohol consumption. During extraoral clinical examination, submandibular lymphadenopathy was identified on the right side.

An incisional biopsy was performed, and histopathological analysis revealed two distinct lesions. The first, a heterotopic gastrointestinal cyst, was characterized by oral mucosa lined by stratified squamous parakeratinized epithelium, with acanthosis and hydropic degeneration. In the deeper specimen, a pathological cavity lined by tall columnar epithelial cells with basally displaced nuclei and apical microvilli (brush borders) was identified. These features resembled duodenal mucosecretory epithelium, including goblet cells and tubular structures like Brunner’s glands (Fig. 1D-L). The second lesion was diagnosed as OSCC. The examination revealed a proliferation of oral keratinocytes with moderate cellular atypia, displaying pleomorphism and nuclear hyperchromatism. Significant abortive keratinization and occasional mitotic figures were also noted. The lesion presented with islands, trabeculae, and solid cords of tumor epithelial cells, characteristic of OSCC (Fig. 1B-C).

Based on the histopathological diagnosis, the simultaneous occurrence of a heterotopic gastrointestinal cyst and a well-differentiated OSCC was confirmed. Subsequent clinical management involved multidisciplinary discussions to plan the appropriate surgical approach and follow-up, given the rare and challenging nature of this simultaneous lesion presentation. The patient is currently under regular follow-up, and additional exams will be conducted to monitor local disease control and prevent potential complications.

This case report of a 62-year-old male, with a significant history of smoking and alcohol consumption, presenting with simultaneous oral heterotopic gastrointestinal cyst and OSCC, highlights the diagnostic complexity and the importance of careful management of these rare and concomitant conditions.

The presence of a heterotopic gastrointestinal cyst in the oral cavity is extremely rare, particularly in adult patients.^22,23 Most documented cases occur in pediatric patients, making this case even more unique.^24,25 The identification of a heterotopic cyst alongside a malignant neoplasm, such as OSCC, may present a diagnostic challenge, as both lesions may coexist and potentially influence each other in terms of clinical presentation and progression.

This case underscores the need for detailed histopathological evaluation of unusual oral lesions, especially in patients with high-risk factors, such as smoking and alcohol consumption, which are known to increase the incidence of OSCC.²⁶ The coexistence of a heterotopic gastrointestinal cyst, which typically does not present malignancy, with a OSCC raises questions about possible interactions between these lesions, though the existing literature is limited in this regard.

Compared to previous studies, which report the isolated presence of heterotopic cysts or OSCC, this case highlights a combination that may be underdiagnosed due to the rarity of the heterotopic condition and the clinical predominance of the carcinoma.²⁷ Precise differential diagnosis and consideration of multiple hypotheses are crucial to avoid diagnostic errors and plan appropriate treatment.

The treatment approach would be significantly different if the case involved only the heterotopic gastrointestinal cyst, as a benign lesion would generally require a less aggressive intervention. However, the coexistence of a malignant lesion such as OSCC drastically alters the management plan, demanding a more comprehensive treatment strategy that typically includes surgery, radiotherapy, or chemotherapy. Therefore, the synchronous occurrence of both lesions also impacts the prognosis—while a benign lesion associated with a cyst usually leads to a favorable outcome, the presence of a malignant tumor significantly worsens the prognosis, making the clinical scenario much more complex.

Limitations of this study include the fact that it is a single case report, and especially the first case of the mutual manifestation of two lesions, mainly benign and malignant. Furthermore, long-term monitoring of this patient will be crucial to determine clinical behavior, prognosis and to verify whether there are different characteristics resulting from the coexistence of lesions. Future research may benefit from cohort studies investigating the coexistence of benign and malignant lesions in the oral cavity to better understand the clinical implications and prognosis of these patients.

This case highlights the rare and unique coexistence of a synchronous oral heterotopic gastrointestinal cyst and squamous cell carcinoma, underscoring the importance of considering the possibility of a concomitant lesion when formulating the primary diagnosis.

The combination of these conditions presents significant diagnostic challenges, particularly in patients with risk factors such as smoking and alcohol consumption. Performing biopsy followed by histopathological analysis is crucial for accurate diagnosis and appropriate treatment.

DATA AVAILABILITY

No datasets were generated or analysed during the current study.

CODE AVAILABILITY

Not applicable.

FUNDING

This study was not supported by any funding.

Acknowledgements

AUTHOR INFORMATION

Authors and Affiliations

Post-Graduate Program in Dentistry, Federal University of Santa Catarina, Florianópolis, Santa Catarina, Brazil.

Caroline Alfaia Silva

Túlio Silva Rosa

Lidiane de Paula Ribeiro

Assistant Professor at the University of Southern Santa Catarina, Florianópolis, Santa Catarina, Brazil.

Angélica Reinheimer

Department of Pathology, Health Sciences Center, Federal University of Santa Catarina, Florianópolis, Santa Catarina, Brazil.

Elena Riet Correa Rivero

Filipe Modolo

Rogério de Oliveira Gondak

Ricardo Luiz Cavalcanti de Albuquerque Júnior

ETHICAL APPROVAL

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Consent to Participate

Informed consent was obtained from all individual participants included in the study.

Consent for Publication

Consent for publication was obtained for every individual person’s data included in the study.

Competing Interests

The authors declare no competing interests.

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No competing interests reported.

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Synchronous Oral Heterotopic Gastrointestinal Cyst and Oral Squamous Cell Carcinoma: First Case Report

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Abstract

Background.

Methods and results.

Conclusion.

Figures

BACKGROUND

CASE PRESENTATION

DISCUSSION

CONCLUSIONS

Declarations

References

Additional Declarations

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