Dataset Information

Metastatic malignant melanoma in bone marrow with occult primary site--a case report with review of literature.

ABSTRACT:

Background

Metastases 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 presentation

Herein 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.

Conclusion

In 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.

SUBMITTER: Jain D

PROVIDER: S-EPMC2140052 | biostudies-literature | 2007 Oct

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Metastatic malignant melanoma in bone marrow with occult primary site--a case report with review of literature.

Jain Deepali D Singh Tejindar T Kumar Naresh N Daga Mradul K MK

Diagnostic pathology 20071002

<h4>Background</h4>Metastases of malignant melanoma to the bone marrow are very rare. A few case reports are published in the literature with a known primary site.<h4>Case presentation</h4>Herein 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) ...[more]

PMID: 17910749

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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.

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.

Dataset Information

Metastatic malignant melanoma in bone marrow with occult primary site--a case report with review of literature.

Background

Case presentation

Conclusion

Publications

Metastatic malignant melanoma in bone marrow with occult primary site--a case report with review of literature.

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