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)

A 68-year-old man sought dermatologic attention for a tumor of the arm. Biopsy specimen showed abnormal, essentially amelanotic, spindle-shaped cells in the cutis, greatly fibrotic stroma, and focal epidermal invasion. Desmoplastic malignant melanoma was diagnosed. The lesion was widely excised and axillary lymphadenectomy performed; one node showed metastasis. Nine months later, he died with widespread metastatic disease. To our knowledge, this is the first report of this entity since its delineation in 1971 and the only case in which diagnosis was established on initial biopsy and followed by definitive therapy. Desmoplastic melanoma has been confused with benign fibrosis, invasive fibromatosis, and fibrosarcoma, and is another example, with morpheaform basal cell carcinoma and sclerodermoid metastatic lesions from breast carcinoma, in which desmoplastic stroma may obscure the epithelial nature of cutaneous neoplasm.
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PMID:Desmoplastic malignant melanoma. 113 19

A clinical and histologic review of 25 patients with melanocytic lesions classified as desmoplastic malignant melanoma is reported. All of the lesions were located in sun-exposed sites. The average age was 61.2 years (range, 38 to 83), with a median age of 56. There were 14 female and 11 male patients. Desmoplastic malignant melanoma is a melanocytic and fibroblastic proliferation that occurs predominantly in the head and neck area. The bland constituent cells resemble fibroblasts and are often arranged in bundles or fascicles, which may be arrayed perpendicularly to the overlying epidermis. Enlarged and/or atypical cells are usually scattered among the spindled cells. Most, but not all, of the tumors (24 of 25 in this series) are associated with lentigo maligna or an atypical junctional melanocytic proliferation. Mitotic figures are always found within the constituent cells of the fibrous-appearing mass, and neurotropism may be present. Patients with desmoplastic melanoma typically present with a mass, which is occasionally associated with a pigmented lesion. The lesions in our series were deeply invasive to level IV or V. Lentigo maligna and a dermal fibroblastic-appearing mass containing atypical cells arranged in fascicles are the most common morphologic features found in desmoplastic melanoma. Follow-up data is available for 23 patients. The average length of follow-up was 2.7 years (range, 0.1 to 9 years). Eighteen patients were observed for 3 or more years. Twelve patients developed local recurrences, and five developed metastases; three of the patients with metastases had a local recurrence before the development of metastases. Three of the patients with metastatic melanoma died of tumor between 2 and 4 years after their initial excision. Eight of the 12 locally recurring lesions were either diagnosed initially as a benign lesion or histologic examination was not performed on the initial excision specimen. It appears that recurrence may be related to inadequate initial therapy.
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PMID:Desmoplastic malignant melanoma. A clinicohistopathologic study of 25 cases. 316 15

Desmoplastic malignant melanoma (DMM) is a rare variant of spindle cell melanoma. We report a case of DMM on the forehead secondarily involving the orbit. The diagnosis was based on light microscopic features, including prominent peripheral cell nest formation and spindle cell fascicles in densely collagenous stroma. Immunohistochemical studies showed strong uniform staining for S100 antigen throughout the tumour. It was negative for HMB 45, smooth muscle actin, desmin, cytokeratins and Type IV collagen. Electron microscopy showed neither melanosomes nor myelin figures. The clinical and histological characteristics of desmoplastic malignant melanoma, and its differential diagnosis of malignant schwannoma, are discussed. DMM has a poor prognosis, since it tends to invade deeply, recur locally and metastasize readily.
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PMID:Desmoplastic malignant melanoma presenting with orbital involvement. 791 65

Desmoplastic malignant melanoma (DMM) is a rare variant of melanoma with distinct histopathologic and clinical features. Compared with other melanomas, the desmoplastic variant demonstrates a greater frequency of local recurrence and a proclivity for tracking along nerves, but it poses a lower risk of distant metastases. Elective lymph node dissection and sentinel lymph node biopsy (SLNB) are commonly used tools for determining prognosis in thick melanomas. The role of these procedures for DMM remains unclear. This study was designed to characterize DMM and determine the frequency of histologically positive lymph nodes in patients with DMM. This retrospective chart review included patients with DMM treated by Johns Hopkins Hospital (JHH) physicians between 1998 and 2003. Among the 28 patients included in the study, 18 patients had biopsies performed on lymph nodes (15 SLNBs and 3 radical neck dissections). One patient had a sentinel lymph node with histology positive for DMM. All others had negative results from histology and S100 stains. This study suggests that the frequency of positive SLNBs in DMM may be substantially lower than that of other melanomas.
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PMID:Lymph node biopsy results for desmoplastic malignant melanoma. 1756 3

Desmoplastic malignant melanoma is a distinct melanoma entity histologically subtyped into mixed and pure forms due to significantly reduced lymph node metastases in the pure form. Recent reports investigating common actionable driver mutations have demonstrated a lack of BRAF, NRAS, and KIT mutation in pure desmoplastic melanoma. In search for alternative driver mutations next generation amplicon sequencing for hotspot mutations in 50 genes cardinal to tumorigenesis was performed and in addition the RET G691S polymorphism was investigated. Data from 21 desmoplastic melanomas (12 pure and 9 mixed) were retrieved. Pure desmoplastic melanomas were either devoid of mutations (50%) or displayed mutations in tumor suppressor genes (TP53, CDKN2A, and SMAD4) singularly or in combination with the exception of a PIK3CA double-mutation lacking established biological relevance. Mixed desmoplastic melanomas on the contrary were frequently mutated (89%), and 67% exhibited activating mutations similar to common-type cutaneous malignant melanomas (BRAF, NRAS, FGFR2, and ERBB2). Separate analysis of morphologically heterogeneous tumor areas in four mixed desmoplastic malignant melanomas displayed no difference in mutation status and RET G691 status. GNAQ and GNA11, two oncogenes in BRAF and NRAS wild-type uveal melanomas, were not mutated in our cohort. The RET G691S polymorphism was found in 25% of pure and 38% of mixed desmoplastic melanomas. Apart from RET G691S our findings demonstrate absence of activating driver mutations in pure desmoplastic melanoma beyond previously investigated oncogenes (BRAF, NRAS, and KIT). The findings underline the therapeutic dichotomy of mixed versus pure desmoplastic melanoma with regard to activating mutations primarily of the mitogen-activated protein kinase pathway.
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PMID:Mutational dichotomy in desmoplastic malignant melanoma corroborated by multigene panel analysis. 2576 1