Primary malignant melanoma of the esophagus treated with subtotal esophagectomy: a case report

Kuwabara, Shota; Ebihara, Yuma; Nakanishi, Yoshitsugu; Asano, Tomohiko; Noji, Takehiro; Kurashima, Yo; Murakami, Soichi; Nakamura, Tõru; Tsuchikawa, Takahiro; Okamura, Keisuke; Shichinohe, Toshiaki; Hirano, Satoshi

doi:10.1186/s12893-017-0326-7

Cited by 10 publications

(10 citation statements)

References 19 publications

(21 reference statements)

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“…In both cases, no local lymph node metastases were diagnosed at the curative resection. Patients with esophageal melanoma at T1a stage revealed excellent prognosis compared with more advanced tumors with local lymph nodes metastases [36]. However, long-term survivals (up to 12 years) have been reported in few cases with submucosal invasion and local lymph node metastases treated by subtotal esophagectomy and adjuvant chemotherapy [37,38].…”

Section: Discussionmentioning

confidence: 99%

Primary malignant melanoma of esophagus: clinicopathologic characterization of 20 cases including molecular genetic profiling of 15 tumors

et al. 2019

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Primary malignant melanoma of esophagus is very rare, and its clinicopathologic and genetic features have not been extensively investigated. In this study, 20 tumors from 14 male and 6 female patients (40-79 years old) were evaluated. Dysphagia, chest pain, and weight loss were frequent symptoms. Thirteen melanomas, including two with multiple lesions, involved the distal third of esophagus. The median tumor diameter was 6 cm. Epithelioid morphology, moderate atypia, and pigmentation were typical findings. None of the patients had melanoma elsewhere, and all tumors exhibited a junctional periepithelial component consistent with a primary lesion. The median mitotic activity was 11 per 10 high-power fields (range, 0-31). Nine patients died of tumor within 4-22 months, however, two showed long-term (96 and 104 months) survival. In 15 cases, tissue for further immunohistochemical and molecular studies were available. BRAF, KIT, and NRAS mutation status was assessed by Sanger sequencing in all 15 tumors. The next-generation sequencing of 50 or 409 genes was performed in five and three cases, respectively. IGF1R expression indicating activation of the IGF axis was seen in 82% (9/11) of tumors. However, no BRAF mutations were identified. In 33% (5/15) of tumors, NRAS mutations were detected. KIT expression was seen in 50% (7/14) of melanomas including single KIT mutant. Two of three tumors evaluated with 409 genes panel revealed multiple driver mutations indicating sub-clonal expansion, whereas a single mutation (TSC1 p.H371Q) was the sole change in the third case. SF3B1 p.K666T and p.R625C mutations were detected in two cases. However, no cooccurrence of SF3B1 and GNAQ or GNA11 mutations, seen in uveal melanoma, was detected. FBXW7 p.R465C and p. R479G mutations, linked to cancer progression, were found in two of eight tumors. In summary, esophageal melanoma mutation profile indicates complexity of molecular mechanisms underlying its pathogenesis.

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Section: Discussionmentioning

confidence: 99%

Primary malignant melanoma of esophagus: clinicopathologic characterization of 20 cases including molecular genetic profiling of 15 tumors

et al. 2019

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“…These were all in consistency with our findings. Although the accuracy rate of diagnosis by biopsy is approximately 80%, [ 16 ] we did not perform biopsy in our case because endoscopic ultrasonography showed abundant blood flow signals and biopsy might lead to bleeding. Besides, sometimes the tumors are amelanotic with no melanin granules, concentrated in foci or covered by normal squamous epithelium, which might influence the accuracy of endoscopic biopsy and lead to misdiagnosis.…”

Section: Discussionmentioning

confidence: 99%

Malignant melanoma of the esophagus complicated with poorly differentiated mucinous adenocarcinoma of the stomach

Li¹,

Liu²,

Wang³

et al. 2019

Medicine

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Rationale:Primary malignant melanoma of the esophagus (PMME) is a rare malignancy that only accounts for <2% of all primary esophageal tumors. Here, we report the even rarer occurrence of PMME in combination with poorly differentiated mucinous adenocarcinoma of the stomach.Patient concerns:A 64-year-old man was presented to the hospital with >1 month of eating dysphagia. Enhanced computed tomography (CT) scan only found a space-occupying lesion in the lower esophagus with moderate enhancement. However, gastroscope showed not only esophageal masses, but also gastric mucosa changes.Diagnoses:Poorly differentiated mucinous adenocarcinoma and PMME were diagnosed based on pathological biopsy and immunohistochemical methods.Interventions:The patient underwent laparoscopic gastric cancer radical surgery, esophageal resection, and colonic replacement of the esophagus.Outcomes:Abdominal CT and esophagography performed 1 week after surgery showed that it was consistent with postoperative changes without other abnormalities. However, the patient died 3 months after discharge without receiving any other treatment.Lessons:This case suggests more attention should be drawn to the diagnosis of multiple primary malignant neoplasms in elder patients, and also highlights the need to fulfill comprehensive examinations before surgery in case of misdiagnosis. Besides, it is challenging to finding a reasonable treatment for such rare condition.

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“…After other six cases of PMME [ 255 , 256 , 257 , 258 , 259 , 260 ], Hayian Su et al, in their 2017 work, analyzed 21 cases of PMME at Tianjin Medical University Cancer Institute and Hospital from January 2002 to February 2017. In terms of sintomatology, 19 patients presented with dysphagia and two patients complained of retrosternal pain.…”

Section: Discussionmentioning

confidence: 99%

“…Surgery has traditionally been the only option for prolonging survival in patients with PMME [ 146 , 169 , 213 , 235 , 247 , 259 , 294 ], and total or sub-total esophagectomy appears to offer better survival outcomes. The efficacy of both chemotherapy and radiotherapy have been shown to be limited [ 166 , 167 , 201 , 218 , 241 , 260 ].…”

Section: Discussionmentioning

confidence: 99%

The Thousand Faces of Malignant Melanoma: A Systematic Review of the Primary Malignant Melanoma of the Esophagus

Cazzato

Cascardi

Colagrande

et al. 2022

Cancers

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Primary Malignant Melanoma of the Esophagus (PMME) is an extremely rare cancer of the esophagus, accounting for 0.1–0.8% of all oro-esophageal cancers and <0.05% of all melanoma subtypes, with an estimated incidence of 0.0036 cases per million/year. We conduct a careful analysis of the literature starting from 1906 to the beginning of 2022, searching the PubMed, Science.gov, Scopus and Web of Science (WoS) databases. A total of 457 records were initially identified in the literature search, of which 17 were duplicates. After screening for eligibility and inclusion criteria, 303 publications were ultimately included, related to 347 patients with PMME. PMME represents a very rare entity whose very existence has been the subject of debate for a long time. Over time, an increasing number of cases have been reported in the literature, leading to an increase in knowledge and laying the foundations for a discussion on the treatment of this pathology, which still remains largely represented by surgery. In recent times, the possibility of discovering greater mutations in gene hotspots has made it possible to develop new therapeutic strategies of which nivolumab is an example. Future studies with large case series, with clinicopathological and molecular data, will be necessary to improve the outcome of patients with PMME.

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Primary malignant melanoma of the esophagus treated with subtotal esophagectomy: a case report

Cited by 10 publications

References 19 publications

Primary malignant melanoma of esophagus: clinicopathologic characterization of 20 cases including molecular genetic profiling of 15 tumors

Primary malignant melanoma of esophagus: clinicopathologic characterization of 20 cases including molecular genetic profiling of 15 tumors

Malignant melanoma of the esophagus complicated with poorly differentiated mucinous adenocarcinoma of the stomach

The Thousand Faces of Malignant Melanoma: A Systematic Review of the Primary Malignant Melanoma of the Esophagus

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