Primary Malignant Melanoma of the Esophagus: Prognosis and Therapeutic Challenges

Eman EL-Sawalhy^1, , Marwa Sokrab¹, Paige Spagna², Mohammad Arman³, Said Hafez-Khayyata⁴, Victoria Badia⁵ and Shahina Patel⁶

¹Department of Internal Medicine, Beaumont Hospital, Dearborn, MI

²Department of Dermatology, Beaumont Hospital Trenton, Trenton MI

³Division of Gastroenterology, Internal Medicine Department, Beaumont Hospital, Dearborn, MI

⁴Department of Clinical Pathology, Beaumont Hospital, Dearborn, MI

⁵Wayne State University, School of Medicine, Detroit, MI

⁶Division of Hematology & Oncology, Internal Medicine Department, Beaumont Hospital, Dearborn, MI

Cite this paper

Eman EL-Sawalhy, Marwa Sokrab, Paige Spagna, Mohammad Arman, Said Hafez-Khayyata, Victoria Badia and Shahina Patel. Primary Malignant Melanoma of the Esophagus: Prognosis and Therapeutic Challenges. American Journal of Medical Case Reports. 2021; 9(9):460-463. doi: 10.12691/AJMCR-9-9-6

Abstract

Primary malignant melanoma of the esophagus (PMME) is a very rare and highly aggressive tumor, representing <1% of esophageal malignancies. We are reporting a case of PMME in a 54-year-old White, Non-Hispanic male, who presented to the hospital with dysphagia and weight loss. Computed tomography (CT) of the chest revealed a large mid-to-distal esophageal mass with mass effect on adjacent structures, with no evidence of invasion. The patient subsequently underwent esophagogastroduodenoscopy (EGD) with guided biopsy of the esophageal mass. Histopathology and immunohistochemistry of the biopsied specimen were performed and consistent with malignant melanoma. Tumor staging by positron emission tomography and computed tomography (PET/CT) scans revealed extensive, locally advanced disease with lymph node involvement. Subsequently, esophageal ultrasound (EUS) with biopsy of the involved lymph node was performed and was positive for malignant melanoma. The mass was deemed unresectable due to the extensive degree of locally advanced disease. To assist in our therapeutic decision making, the patient was screened for the presence of a BRAF V600 mutation. He was then started on a combination of the BRAF inhibitor (dabrafenib) in combination with the mitogen-activated extracellular kinase (MEK) Inhibitor (trametinib) given the presence of a BRAF V600 mutation.

Keywords

primary malignant melanoma of the esophagus, Immunohistochemistry, BRAF V600 gene mutation, dabrafenib, and trametinib

Copyright

This work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

References

[1]	Naomoto, Y., Perdomo, J. A., Kamikawa, Y., Haisa, M., Yamatsuji, T., Kenzo, A., Taguchi, K., Hara, K., & Tanaka, N. (1998). Primary malignant melanoma of the esophagus: report of a case successfully treated with pre-and post-operative adjuvant hormone-chemotherapy. Japanese journal of clinical oncology, 28(12), 758-761.
[2]	Zhao, W., Guo, X., & Yang, Y. (2019). A case of long-term survival of primary malignant melanoma of the esophagus after surgery and a review of the literature. Annals of Esophagus, 2, 4-4.
[3]	Li, B., Lei, W., Shao, K., Zhang, C., Chen, Z., Shi, S., & He, J. (2007). Characteristics and prognosis of primary malignant melanoma of the esophagus. Melanoma Research, 17(4), 239-242.
[4]	Jora, C., Pankaj, P., Verma, R., Jain, A., & Belho, E. S. (2015). Primary malignant melanoma of the esophagus. Indian journal of nuclear medicine: IJNM: the official journal of the Society of Nuclear Medicine, India, 30(2), 162-164.
[5]	Liu, H., Yan, Y., & Jiang, C. M. (2016). Primary Malignant Melanoma of the Esophagus With Unusual Endoscopic Findings: A Case Report and Literature Review. Medicine, 95(17), e3479.
[6]	Jiang, W., Zou, Z., & Liu, B. (2015). Primary malignant melanoma of the esophagus: A case report and review of the literature. Oncology Letters, 9(5), 2036-2040.
[7]	Eroglu, Z., & Ribas, A. (2016). Combination therapy with BRAF and MEK inhibitors for melanoma: latest evidence and place in therapy. Therapeutic advances in medical oncology, 8(1).
[8]	Gonzalez, D., et al. “BRAFmutation Testing Algorithm for Vemurafenib Treatment in Melanoma: Recommendations from an Expert Panel.” British Journal of Dermatology, vol. 168, no. 4, 2013, pp. 700-707.