Primary oral malignant melanoma metastasis to the brain and breast: A case report and literature review.
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ABSTRACT:
SUBMITTER: Alqahtani S
PROVIDER: S-EPMC5529946 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:With fewer than 250 cases published worldwide, primary vaginal melanoma is an extremely rare malignant entity which is mostly diagnosed in advanced stages. The estimated incidence of vaginal melanoma is 0.026/100?000 women per year. The poor prognosis for advanced tumour stages and different therapies used in very limited numbers of patients require precise preoperative staging and a planned interdisciplinary therapeutic approach.
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Project description:The incidence of malignant melanoma is increasing worldwide and is one of the major causes of skin cancer deaths in the United States. Although melanoma has the potential to metastasize to any organ, the incidence of bone metastasis is low (~25%) compared to liver or lung metastasis. However, when a bone is involved, metastasis occurs to the axial skeleton in most cases (80%-90%), and involvement of the appendicular skeleton is relatively rare. We here describe the case of a patient who presented with a pathological fracture due to extra-axial skeletal metastasis of a widespread malignant melanoma. A 45-year-old female with an unremarkable past medical history presented to the ED with acute left hip pain. X-ray demonstrated left intertrochanteric femur fracture with an abnormal, suspicious lesion at the fracture site. Detailed physical examination revealed various skin nodules on the anterior chest wall, right upper back, and left cheek. CT of the chest/abdomen/pelvis (CT C/A/P) showed multiple lytic bone lesions and metastatic lesions in lungs, soft tissue, and mediastinal lymph nodes. She underwent surgical stabilization of the fracture, and a biopsy of the bone lesion revealed metastatic malignant melanoma with BRAF V600E mutation. She was started on localized radiotherapy followed by targeted therapy (dabrafenib and trametinib) and denosumab for her stage IV (cTX, cN2, cM1b(1)) (American Joint Committee on Cancer [AJCC] cancer staging 8th edition) disease. Despite treatment, her disease progressed as evidenced by the presence of new metastatic foci on a positron emission tomography-computed tomography (PET-CT) scan performed at a three-month follow-up. Her clinical course was complicated by hemoperitoneum due to bleeding from metastatic liver lesions and respiratory failure requiring a prolonged stay in the ICU before she was deceased. In most cases, malignant melanoma presents with skin lesions at an early stage. Very few patients (4%) have metastatic disease at presentation. Although metastasis to bone is known to occur in advanced disease, involvement of the extra-axial skeleton is relatively rare. Malignant melanoma, initially presenting as pathological fracture of the appendicular skeleton, is not commonly encountered. Our case emphasizes the aggressive nature of malignant melanoma with an aim to raise physicians' awareness of this uncommon presentation. A brief review of the literature exploring prognosis and currently available treatment options is discussed.
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Project description:Epithelioid angiomyolipoma (EAML) is a rare type of mesenchymal angiomyolipoma with potential malignancy in the kidney that can cause lymph node metastases, local recurrence, and distant metastases. Herein, we describe a case of EAML in the right kidney of a 51-year-old man who was admitted to the hospital with a right abdominal mass. Computed tomography revealed a heterogeneously enhanced mass with blurred margins, which was considered a malignant tumor. A radical nephrectomy was then performed. Two years later, the patient developed liver metastases from EAML and was administered sintilimab combined with bevacizumab. The patient survived after 6 months of follow-up. Histologically, the tumors showed clear boundaries and no obvious capsules. The tumor tissue mainly consisted of epithelioid tumor cells, thick-walled blood vessels, and a small amount of adipose tissue. Tumor cells with lipid vacuoles and acinar areas were large, round, polygonal, eosinophilic, or transparent in the cytoplasm. The enlarged and hyperchromatic nuclei were accompanied by distinct nucleoli and pathological mitosis. These histopathological findings resembled those of renal cell carcinoma, and immunohistochemical analysis was performed. The tumor cells were diffusely positive for HMB45, Melan-A, CK20, vimentin antibodies, and TFE3, suggesting that the tumor originated from perivascular epithelioid cells, excluding renal cell carcinoma. The Ki-67 index was 10%. These histopathological features were observed in liver mass puncture tissues. We also summarized 46 cases of EAML with distant metastasis and explored the clinicopathological features of EAML to improve the treatment of the disease. EAML is often ignored in the clinical setting, leading to metastasis and recurrence. Therefore, EAMLs require long-term follow-up, and timely detection of recurrent disease can improve the prognosis.
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Project description:IntroductionMalignant melanomas (MM) of the parotid gland are rather rare and when discovered in the parotid gland without an identifiable primary site, they are considered even rarer.Presentation of caseWe report a case of a 27 years-old woman who was admitted to our department with a complaint of a painless mass in the parotid area. Clinical examination and radiological investigations found a mass compatible with pleomorphic adenoma. Treatment consisted of superficial parotidectomy. The evolution was marked by the appearance of a tumefaction regarding the scar. A total parotidectomy with neck dissection was performed and the histopathological examination found an intraglandular melanoma.ConclusionPrimary malignant melanoma may represent a serious diagnostic challenge. It should be considered in the differential diagnosis of parotid tumors even if it's rare.
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Project description:IntroductionMalignant melanoma most commonly occurs in the skin. Primary malignant melanoma of endometrium is quite rare. Its diagnosis depends on clinical characteristics and pathological examination. It usually exhibits high degree of tumor histology, early onset of distant metastases, and unfavorable prognoses.Case presentationIn this paper, we report a case of a 73-year-old woman with primary malignant melanoma of endometrium. This patient denied a history of nevus removal or any family medical history of cancer. She was admitted to the hospital for irregular vaginal bleeding after menopause and performed an endometrial biopsy. Pathological of the scrapings suggested malignant melanoma. She subsequently underwent a radical surgery. The final pathology diagnosis was primary malignant melanoma of endometrium, and BRAF gene mutation was detected. The tumor staged as IVB according to the International Federation of Gynecology and Obstetrics (FIGO) classification. Thus, she then started adjuvant chemotherapy. This patient is currently on oral targeted therapy and is still being followed up.ConclusionMucosal melanoma is infrequent, and primary malignant melanoma of endometrial is a rare subtype. To the best of our knowledge, malignant melanoma originating from endometrium has never been reported before. It has a high degree of malignancy and is prone to early metastasis. Further investigations are warranted to explore its underlying pathogenesis, management, and outcomes.
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Project description:BackgroundMetastases of malignant melanoma to the bone marrow are very rare. A few case reports are published in the literature with a known primary site.Case presentationHerein we present a case of metastatic malignant melanoma in bone marrow with occult primary site in a 22-year-old-male. Diagnosis was confirmed by morphology and immunohistochemistry. A pertinent review of literature is also presented by using relevant articles indexed in PubMed (National Library of Medicine) database. The search was based on the following terms: metastasis or metastases, malignant melanoma and bone marrow.ConclusionIn this report we discuss a rare case of metastatic malignant melanoma to the bone marrow with an unknown primary. Clinicians must be aware of the varied clinical manifestations of disseminated malignant melanoma even if the primary site is not evident.
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Project description:Multiple primary tumors, especially quadruple primary tumors, are extremely rare clinically, and there is no standard protocol for clinical management. We described a case in which a bone tumor, a malignant bladder tumor, a malignant melanoma, and an intrahepatic cholangiocarcinoma were all original malignancies. The patient is a 79-year-old woman who underwent surgery for a left middle finger bone tumor 45 years ago, as well as surgery for bladder malignancy and postoperative adjuvant chemotherapy 15 years ago, and the precise pathological results and treatment are unclear. One year ago, she underwent amputation of the toe due to a black mass of the right toe and was diagnosed pathologically as a freckled malignant melanoma of the extremity. Prior to postoperative adjuvant systemic medication, PET/CT revealed malignancy in the lateral segment of the left lobe of the liver, and multiple lymphadenopathies in the left parotid gland, hilar hepatic, and retroperitoneal region. Intrahepatic cholangiocarcinoma was found in the liver puncture biopsy's pathology report. The serum sample's next-generation sequencing (NGS) revealed a missense mutation, designated P.G12V, in exon 2 of the KRAS gene. Based on patients with malignant melanoma and intrahepatic cholangiocarcinoma, she received 6 cycles of GP (gemcitabine/cisplatin) combined with Camrelizumab systemic therapy, and followed by 3 cycles of Camrelizumab maintenance therapy, the efficacy was evaluated as stable disease (SD) during treatment. When the 4th cycle of Camrelizumab was suggested for maintenance therapy, the efficacy evaluation revealed that the tumor had greatly advanced. The patient refused to continue anti-tumor therapy and passed away from septic shock and multiple organ failure 3 months later. The patient had satisfactory efficacy and lived for a year after being diagnosed with two primary cancers. Despite the rarity of quadruple primary tumors and the lack of a conventional clinical management strategy, we postulate that germline mutations in the KRAS gene may be closely associated with the formation and development of multiple primary tumors. NGS testing is necessary for clinical management, and systemic treatment based on concurrent multiple main tumors is the key to improving prognosis.
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Project description:Until recently, few cases of three or more malignant tumors in one patient have been reported. Owing to the high incidence rate of these tumors, the improvement in cancer diagnosis and treatment, and the extension of patient survival time, the incidence of reported multiple primary malignant neoplasms has gradually increased. The present study reported the case of a 57-year-old man with non-small cell lung cancer combined with B-Raf proto-oncogene serine/threonine kinase V600E mutation, gastrointestinal stromal tumors and lumbar vertebral malignant mucinous sarcoma. The pathogenesis, diagnosis and treatment of these three malignancies are discussed and previous studies are also reviewed. The aim of the study was to analyze the genetic mutations associated with multiple primary malignant tumors and to discuss whether those mutations with unknown functional significance could be used as therapeutic indicators. This case report will serve as a reference for future treatment of such patients.
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Project description:BackgroundMalignant melanoma is a malignant tumor of melanocytes. All body organs can be invaded by it; however, the skin is the most common site of invasion. Melanomas involving the lungs are almost always metastatic and it is extremely rare to find a true primary malignant melanoma of the lung (PMML). Compared to cutaneous melanoma, mucosal melanoma has a different biology and clinical appearance. Since there are no standards for the diagnosis and treatment of PMML, it is treated differently. We reported a patient with PMML underwent surgery after programmed cell death 1 (PD-1) immunotherapy.Case descriptionA 62-year-old female patient presented with an occupying lesion in the right upper lung lobe found on physical examination. A computed tomography (CT) scan was done, and the results showed a lobulated soft tissue mass shadow of roughly 54 mm × 50 mm in the upper lobe of the right lung. The histological results of a CT-guided percutaneous lung biopsy were consistent with malignant melanoma. She was identified as having primary melanoma of the lung after undergoing a full physical examination to rule out occult primary tumor metastases. The patient received a total of 33 cycles of immunotherapy (PD-1). We did a right upper lung lobectomy after shrinking the melanoma in the right lung's upper lobe to a size of 16 mm × 10 mm. After the operation, the patient was monitored for 6 months and made a full recovery without recurrence.ConclusionsThe preoperative immune system in combination with a surgical procedure may boost patients' chances of survival. These findings need to be confirmed in more clinical research.
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Project description:Multiple primary malignant neoplasms (MPMN) are defined as two or more primary malignancies diagnosed in an individual. There is no association between these cancers, which can be classified into synchronous and heterochronous cancers depending on the time of diagnosis. The present study presented a rare case of bilateral breast, endometrial, cervical and ovarian cancers. Through thorough physical examination, pathology and immunohistochemistry, it could be determined that bilateral breast, endometrial and cervical cancers were primary malignant tumors and that ovarian cancer cannot be excluded as a result of metastasis. the present study also summarized the definitions, risk factors, prevalence characteristics, diagnostic ideas and treatment options for MPMN by reviewing the literature.
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