Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027627 (metastases)
 103,950 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Malignant blue nevi are a rare variant of cutaneous melanoma often associated with metastatic disease and poor prognosis. Information on the treatment of this condition is limited. This case study reports the use of intralesional interferon -alpha2b (IFN-alpha2b) as a salvage option in a male patient with a congenital blue nevus on the right buttock. After initial diagnosis, the primary lesion (lesion 1) was partially resected and the patient received aggressive treatment with radiotherapy and concomitant polychemotherapy (cisplatin, vinblastine, and dacarbazine). However, the lesion progressed and the patient was treated second-line with carboplatin, paclitaxel, and sorafenib. Although this treatment stabilized the primary lesion, at cycle 6, the patient developed a measurable locoregional metastasis (lesion 2). At this stage, the patient was treated with intralesional IFN-alpha2b twice weekly at lesion 2, followed by weekly intralesional IFN-alpha2b therapy to both lesions, which resulted in partial disease regression. Biweekly maintenance therapy with IFN-alpha2b administered to both lesions maintained a partial response (ongoing at 23+ mo) and allowed complete occupational rehabilitation. Thus, intralesional therapy with IFN-alpha2b may be a viable treatment option in patients with locally advanced melanoma who have progressed on prior radiotherapy, polychemotherapy, and/or multikinase antiangiogenic-based therapy.
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PMID:Intratumoral therapy with interferon-alpha in a locoregional advanced malignant blue nevus: a brief communication. 1995 52

Blue nevus represents an aberrant collection of functioning benign dermal melanocytes. Its malignant degeneration is rare and is regarded as a form of malignant melanoma. We report a case of 35-year old male with this rare condition whose primary lesion over left foot ulcerated and patient later succumbed to multiple metastases.
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PMID:Malignant blue nevus. 2094 18

Intracranial invasion of cellular blue nevus is extremely rare, and its malignant transformation is even less common. The differential diagnosis includes neurocutaneous melanosis and neurocristic cutaneous hamartoma. A 50-year-old female presented with intracranial melanoma in contiguity with a congenital blue nevus on the scalp. The patient showed a wide pigmented lesion on the scalp that had grown in the last few years over the congenital blue nevus. Magnetic resonance imaging revealed an intracranial tumor lying contiguous to the nevus. Despite aggressive surgery, the tumor relapsed and the patient developed systemic metastases. We report a rare case of cellular blue nevus showing an unexpected aggressive behavior with extensive extra- and intracranial expansion and distant metastases.
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PMID:Dermal melanocytosis of the scalp associated to intracranial melanoma: malignant blue nevus, neurocutaneous melanosis, or neurocristic cutaneous hamartoma? 2212 66

Melanoma may arise in association with and/or simulate the appearance of a cellular blue nevus. The distinction of a cellular blue nevus with atypical features from blue nevus-like melanoma can be difficult. One rare setting, in which one may face this diagnostic challenge, is nodule formation in a large plaque-type blue nevus. We have previously reported 2 patients with cellular blue nevus-like subcutaneous nodules without overt malignant features and indolent clinical behavior. Herein we report a patient who developed malignant melanoma in association with a large plaque-type blue nevus. A 46-year-old woman with a history of "cellular blue nevus" of the breast that developed 7 years earlier during pregnancy had soft tissue nodules at the prior surgical site. She was found to have melanoma associated with a large plaque-type blue nevus, which involved the skin and subcutis of the chest wall and extended into breast parenchyma. Ten years after mastectomy and axillary node dissection with negative lymph nodes, the melanoma recurred as a subcutaneous chest wall nodule. Cytogenetic analysis revealed a number of aberrations, including deletion of 6q and gains of 6p and 8q. The patient then developed visceral metastases, first to the liver, and died of widely metastatic melanoma. In contrast, the cytogenetic findings of a previously reported cellular blue nevus-like nodule in a patient with a large plaque-type blue nevus were normal. That patient is still alive with no evidence of melanoma 16 years after the surgical excision of the subcutaneous cellular blue nevus-like nodule.
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PMID:Melanoma arising in a large plaque-type blue nevus with subcutaneous cellular nodules. 2279 Aug 65

Large plaque-type blue nevi with subcutaneous cellular nodules are rare tumors occurring on the trunk with deep extension into underlying soft tissues. The histopathologic appearance consists of deep nodules resembling cellular blue nevi with interspersed foci of common blue nevus. Conservative management has been recommended, and metastases have not been observed. This report discusses two cases with microscopic features of large plaque-type blue nevi with subcutaneous cellular nodules in which comparative genomic hybridization showed chromosomal aberrations typical of melanoma. In both cases, the nodules showed gains involving chromosome 6p and losses involving chromosome 6q, which are among the most commonly found aberrations in melanoma. These copy number changes were not present in the less cellular surrounding areas that appeared characteristic of blue nevus. These cases illustrate that large blue nevi with a deep, multi-nodular configuration should be interpreted with caution, and that superficial biopsies of such lesions can be misleading. Molecular techniques can provide valuable insights in these types of difficult melanocytic neoplasms.
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PMID:Melanoma ex blue nevus: two cases resembling large plaque-type blue nevus with subcutaneous cellular nodules. 2314 98

Blue nevi are a clinically and pathologically heterogeneous group of benign pigmented dermal melanocytic tumors that may exhibit histologic overlap with malignant melanoma. This study evaluates the role of immunohistochemical and molecular analyses in the classification and differential diagnosis between blue nevi and melanoma. Twenty-three dermal melanocytic tumors, initially diagnosed as benign or ambiguous, were subjected to immunohistochemical staining for phosphohistone H3 and MIB-1 to evaluate mitotic activity, comparative genomic hybridization to detect chromosomal aberrations, and GNAQ, GNA11, BRAF, NRAS, and KRAS sequencing. Of 19 patients with follow-up information (median, 1.6 years), 3 developed recurrent or metastatic disease. Nevertheless, 11 of the 19 patients with follow-up had <2 years of follow-up. Nine of 23 patients showed chromosomal aberrations, including all 3 patients with tumor recurrence or progression. There was no significant correlation between mutation status (P = 0.6) or mitotic rate (P = 0.3) and outcome. In conclusion, three of nine patients with chromosomal aberrations developed tumor recurrence or progression. Patients with histologically ambiguous dermal melanocytic proliferations that exhibit copy number aberrations should undergo careful clinical follow-up.
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PMID:Proliferative activity, chromosomal aberrations, and tumor-specific mutations in the differential diagnosis between blue nevi and melanoma. 2326 Dec 61

Melanoma or melanoma metastases can rarely mimic blue nevi clinically and/or histologically, presenting a diagnostic pitfall for both the clinician and the dermatopathologist. We report a case of an invasive lentigo maligna melanoma with subsequent development of multiple, cutaneous blue nevus-like localized metastases followed by a distant metastasis, heralding widespread systemic metastases.
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PMID:Lentigo Maligna Melanoma With Local and Distant Blue Nevus-like Metastases. 2594 43

The number of dermatologic entities that can be studied by ultrasound examination (US) of the skin is increasing. Conventional US and high frequency US (HFUS) are considered useful additional tools in improving the diagnosis and management of common benign and malignant skin tumors. US may help in positive and differential diagnosis of primary melanocytic neoplasms and of locoregional spread in melanoma patients. US preoperative evaluation of primary melanoma thickness correlates with histologically estimated melanoma thickness, and can help determine surgical margins and indications for sentinel lymph node biopsy. It is also useful during follow-up after surgical treatment for early detection of recurrence or metastases. In this case report, we present two cases of skin lesions clinically suspicious for malignancy. The first lesion was a round nodule 3 mm in diameter, resembling a blue nevus. In HFUS it was well delimited, hypoechoic, and well vascularized. The second lesion presented as an elevated, well-circumscribed nodule, 5-6 mm in diameter, inhomogeneous in color. HFUS depicted a poorly delimited, irregular, hypoechoic lesion crossing the dermoepidermal junction. At the first exam it was not vascularized, but 6 months later a number of vascular flow signals within the lesion were found. In histopathological examination the lesions were finally diagnosed as, respectively: benign cavernous hemangioma and melanoma. In both presented cases HFUS proved to be useful in a differential diagnosis of suspicious skin lesions. Noninvasive and easy to perform, HFUS is a valuable diagnostic method in dermatology.
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PMID:High frequency ultrasonography of the skin and its role as an auxillary tool in diagnosis of benign and malignant cutaneous tumors--a comparison of two clinical cases. 2596 12

Melanoma arising from blue naevus is an exceedingly rare variant of melanoma. Most of the cases are located in head and neck area, with scalp the most affected site. This type of melanoma develops on blue naevus or resembles blue naevus, most frequently cellular blue naevus. We present the case of a 52 years old female diagnosed with a pigmented melanoma of the scalp, with maximum tumoral thickness of 6.8 mm and invasion of the hypodermis, highly resembling cellular blue naevus. All criteria of malignancy were present: prominent nuclear pleomorphism, infiltrative pattern, tumoral necrosis, high mitotic rate (11 mitoses/mm2) with atypical mitosis and high Ki67 index. No lymph node or distant metastases were identified at presentation. Because of the rarity of cases, histopathological diagnosis can be difficult, differential diagnosis with blue naevi, atypical blue naevi or metastatic melanoma being the most challenging problems. Prognosis is given by tumoral thickness, frequently being more than 4 mm.
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PMID:Problems of Differential Diagnosis in Melanoma Arising from Blue Naevus. 2607 67

A 3-month-old infant with a white mother and Asian father presented with discoloration and prominence of the left eye since birth. Examination revealed a normal right eye. The left eye had hyperchromic heterochromia and an enlarged cornea (diameter, 13.0 mm) with intraocular pressure of 26 mm Hg. There were multiple areas of subconjunctival nodular pigmentation that extended posteriorly into the superior fornix. Fundus examination showed a large ciliochoroidal pigmented mass extending from 10:30 to 3:00 o'clock position involving the superior half of the choroid and adjacent ciliary body. The eye was enucleated, confirming the diagnosis of diffuse uveal melanoma with extraocular extension. Systemic surveillance (hepatic panel and ultrasonography of the liver) performed every 6 months for 5 years was has been negative for metastases. The tumor was investigated intensively for the panel of genes (BAP1, BRAF, NRAS12, NRAS61, GNAQ, Kit 9,11,13,17,18) implicated in pathogenesis of blue nevus, cutaneous melanoma, and mucosal melanomas with negative results. Moreover, germline BAP1 mutation could not be identified. This case possibly represents as yet unidentified uveal melanocytic proliferation rather than a true variant of uveal melanoma.
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PMID:Congenital uveal melanoma? 2627 63


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