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

Desmoplastic (neurotrophic) melanoma is a histologic variant of cutaneous melanoma that has a distinct clinical behavior. To better understand this behavior and to treat the disease more effectively, the medical records of 16 patients treated for this disease over a 12-year period were reviewed. Thirteen patients had head and neck lesions, the ear being a common site. The average thickness of the lesions was 5.75 mm. Six (46.2%) of 13 patients had local recurrence of disease. Only two patients (15.4%) developed regional node metastases. None of the patients with clinically NO desmoplastic melanoma were found to have positive nodes after elective neck dissection, regardless of the thickness of the primary lesion. Wide excision of the primary lesion with frozen section control of surgical margins and careful examination for the presence of perineural invasion is important in determining the extent of surgical resection.
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PMID:Desmoplastic melanoma. Histologic correlation with behavior and treatment. 291 74

Desmoplastic infantile gangliogliomas are massive cystic tumors, typically occurring in the cerebral hemispheres of infants. They are remarkable pathologically for a prominent desmoplasia and, in some cases, for a cellular mitotically active component that can be readily interpreted as a malignant neoplasm. Four children less than 1 year of age were diagnosed with desmoplastic infantile gangliogliomas in the Pediatric Oncology Group infant brain tumor study (Protocol number 8633). All had been diagnosed by their respective institutions as having malignant tumors, i.e., Grade III astrocytoma, malignant meningioma, leptomeningeal fibrosarcoma, and gliosarcoma. All had increased intracranial pressure, and two had seizures. The tumors were extremely large, with one measuring 12 x 9 x 9 cm. None had evidence of metastatic disease. One patient had a gross total resection, and the other three had debulking procedures. All four children were treated with chemotherapy (cyclophosphamide, vincristine, cisplatinum, etoposide) for periods ranging from 12 to 24 months. Of those with postoperative measurable disease, one child had a complete response, one a partial response, and one had stable disease at the conclusion of chemotherapy. No child received radiation therapy. All children are alive with progression-free survivals after diagnosis of more than 36, 42, 48, and 60 months, respectively. Although desmoplastic infantile gangliomas are rare, recognition of this tumor type is essential because, despite their massive size and pathologically malignant appearance, they may have a relatively benign clinical course. If total surgical resection can be achieved, further therapy may not be indicated. In those patients in whom residual disease is present, chemotherapy appears to be an effective form of therapy.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Desmoplastic infantile gangliogliomas: an approach to therapy. 800 54

Desmoplastic small cell tumor (DSCT) is a high-grade malignant neoplasm that shows polyphenotypic differentiation. Its almost exclusive involvement of serosal surfaces (particularly peritoneum) has led to the consideration of a putative "mesothelioblast" as the cell of origin. Although an extraserosal case involving the brain (presumably arising from the dura) has been reported, to date no case primary in the bone or soft tissues has been documented. The authors describe a 34-year-old man who presented with a 3-year history of pain in the right hand and a recently noted mass in the hypothenar area. Open biopsy followed by wide en bloc excision in combination with index ray resection was performed. Subsequently, the patient underwent ipsilateral axillary lymph node dissection. Extensive radiologic workup at the time of presentation and 12 months later revealed no tumor in the chest or abdomen. The patient was treated with an HD-CAV chemotherapy regimen (cyclophosphamide, doxorubicin, vincristine, ifosfamide, etoposide) and was free of tumor until 18 months later, at which time he developed multiple metastases in the lungs. Currently, he is alive with tumor and in poor condition. The histologic sections of the mass displayed the characteristic features of DSCT involving bone and soft tissue. Immunohistochemical stains showed positivity of the tumor cells for muscle marker (desmin), neuroendocrine markers (chromogranin, synaptophysin), and epithelial markers (keratins CAM5.2, AE1:AE3, epithelial membrane antigen). Chimeric transcripts were detected by reverse transcriptase-polymerase chain reaction, indicating the presence of EWS-WT1 gene fusion, which is characteristically associated with DSCT. Sequence analysis showed in-frame fusion of EWS exon 9 to WT1 exon 8--a variant not documented in any other case. This is a unique example of DSCT primary in bone and soft tissues, which raises interesting questions about the histogenesis of this tumor type and its relationship to other small round cell tumors. Although the "mesothelioblast" hypothesis as the origin of DSCTs is attractive, it does not account for the tumors that are located in the brain or, as in this patient, in the soft tissues and bone. In addition, this patient demonstrates a rare variant of EWS-WT1 gene fusion not described in DSCT involving serosal surfaces.
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PMID:Primary desmoplastic small cell tumor of soft tissues and bone of the hand. 1055 10

Desmoplastic melanoma (DM) is a variant of melanoma characterized by the presence of amelanotic fusiform melanocytes dispersed in a prominent collagenous stroma. DM behaves differently from conventional non-desmoplastic melanoma (NDM). It has a higher tendency for local recurrence and is less likely to metastasize to regional lymph nodes. In this study, we explored the possibility of distinguishing DM from NDM by gene expression profiling. RNA samples from ten primary cutaneous melanomas of similar depth of invasion were analyzed using the Affymetrix U133A oligonucleotide platform. Four tumors were DM, five were ND, and one tumor showed combined features of desmoplastic and conventional. Hierarchical cluster analysis clearly separated DM from NDM. The expression of a number of melanocyte differentiation genes was decreased in DM compared with NDM, which corresponded to immunohistochemical results. Various genes were upregulated in DM, including neurotrophic factors and genes involved in extracellular matrix production. A novel finding was the high expression of clusterin in DM, which was confirmed by immunohistochemical studies. Our results from gene expression profiling validate the distinction of DM from NDM. They also provide the opportunity to learn more about the biology of DM which had previously not yet been associated with this variant of melanoma.
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PMID:Distinction of desmoplastic melanoma from non-desmoplastic melanoma by gene expression profiling. 1567 62

Desmoplastic melanoma (DM) is a fibrosing variant of spindle cell melanoma. It most often presents as an indurated lesion in chronically sun-damaged skin. Due to the lack of characteristic clinical features, early detection is uncommon. At the time of excision, the tumors usually extend into the reticular dermis or deeper. DM is prone to misdiagnosis. It may simulate histologically sclerosing melanocytic nevi as well as various benign and malignant nonmelanocytic lesions. There is significant morphologic variability among tumors classified as DM. Desmoplasia may be prominent throughout the entire tumor ("pure" DM) or represent a portion of an otherwise nondesmoplastic melanoma ("combined" DM). Some tumors show neuroma-like features with prominent nerve involvement, in which case the term "desmoplastic neurotropic melanoma" is used. Immunophenotypically, DMs are usually strongly and homogeneously positive for S-100 protein but are often negative or only focally positive for melanocyte differentiation antigens such as tyrosinase, gp100, Melan-A, and microphthalmia transcription factor. DM differs from conventional melanoma in its clinical course. It is associated with a higher tendency for local recurrence, but metastases to regional lymph nodes are less common. Evidence is also emerging that for patients with thick melanomas, the presence of a paucicellular fibrosing tumor histology (pure DM) is a favorable prognostic factor for survival.
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PMID:Cutaneous desmoplastic melanoma. 1573 77

Desmoplastic melanoma is a variant of spindle cell melanoma considered at low risk for distant metastases when compared with other forms of melanoma. The emphasis in the differential diagnosis of desmoplastic melanomas has been placed mostly in distinguishing it from scars and other benign spindle cell proliferations. In contrast, recognizing a subset of desmoplastic melanomas with higher metastatic potential has proven more difficult. We studied the expression of N-cadherin in 21 desmoplastic melanomas. The expression of N-cadherin was examined by immunohistochemistry using archive material and a mouse anti-N-cadherin monoclonal antibody previously shown to react in routinely processed paraffin-embedded tissues. Of 21 cases, N-cadherin was strongly positive in 10, only weakly or focally positive in 3, and negative in 8. Seven of 21 patients had distant metastases, and N-cadherin was strongly positive in 6 of those 7 cases. In contrast, only 1 of 11 patients within the group of N-cadherin-negative or weakly positive tumors had distant metastases. Our results show that strong N-cadherin expression in desmoplastic melanoma correlates with distant metastases and potentially more aggressive behavior. In contrast, desmoplastic melanomas with low metastatic potential are mostly negative or only focally positive for N-cadherin. The data suggest that N-cadherin may be a useful marker in recognizing a subset of desmoplastic melanoma with higher metastatic potential.
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PMID:Differential expression of N-cadherin distinguishes a subset of metastasizing desmoplastic melanomas. 1678 91

Spindle cell tumors that arise in or metastasize to the pleura must be thoroughly evaluated to arrive at a definitive diagnosis. Malignant mesothelioma is the most common tumor arising in the pleura, but metastatic tumors to the pleura occur more frequently. Additionally, many tumors arising in the lung and surrounding tissues involve the pleura. It is crucial to arrive at a correct diagnosis since many of these neoplasms show different prognoses and require varying treatment modalities. Sarcomatoid malignant mesothelioma is a rare tumor that arises in the pleura, and can be confused with numerous tumors arising in or metastasizing to the pleura, including synovial sarcoma, metastatic sarcomatoid carcinoma, metastatic melanoma, thymoma, renal cell carcinoma, localized fibrous tumor, leiomyosarcoma, and other types of sarcoma. Desmoplastic malignant mesothelioma is a fibrous sarcomatoid variant of malignant mesothelioma, and is occasionally mistaken for chronic fibrous pleurisy. Here, we review morphological, clinical, histological, immunohistochemical, ultrastructural, and molecular methods that aid in the diagnosis of spindle cell tumors of the pleura, and we provide specific examples of patients in which this multi-modal approach proved to be helpful.
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PMID:Spindle cell tumors of the pleura: differential diagnosis. 1704 95

Desmoplastic melanoma (DM) is a rare variant of spindle cell melanoma, which usually develops in sun-damaged skin of elderly patients. Often the lesion is nonpigmented and frequently mistaken for a nonmelanocytic proliferation, which delays diagnosis and treatment and therefore worsens the prognosis. The spindle shape of neoplastic melanocytes, the prominent desmoplasia, and the frequent neurotropism of neoplastic melanocytes are its most characteristic histopathological features. We have studied the clinicopathologic features of 113 cases of DM. The mean age of the patients was 71.1 years; 48% of the patients were males and 52% were females. The neoplasm was located on the head in 72% of the cases. Malignant melanoma was the initial clinical diagnosis in only 27% of the cases. Histopathologically, all lesions appeared as poorly demarcated neoplasms that involved the entire dermis and often extended into the subcutaneous tissue. The neoplasms were composed of ill-defined fascicles of spindle cells. Desmoplasia was defined as the presence of spindle cells associated with a fibrotic stroma. Fifty-one cases (45%) were classified as "pure DM" when the lesion was entirely desmoplastic, and 62 cases (55%) were considered as "combined DM" when a recognizable desmoplastic component was seen in an otherwise conventional malignant melanoma. In 81% of the cases, an atypical intraepidermal melanocytic component (in situ malignant melanoma) was identified, whereas in the remaining 19% of the cases the intraepidermal component was lacking. Seventy-one percent of the cases were histologically amelanotic, 23% showed a small amount of pigment, and only 6% were heavily pigmented. Neural involvement was identified in 40/113 cases (35%), predominantly in the thickest tumors. Lymphoid nodules, found in 42/113 cases (37%), were significantly more frequent in pure DM than in combined DM (53% vs 24%). The null hypothesis of homogeneity of the "pure" and "combined" subgroups should be rejected (P < 0.002). Solar elastosis, with variable intensity, was seen in 82% of the cases. Mean Breslow thickness was 4.1 mm (4.6/3.7 mm, in the pure/combined subgroups, respectively), median was 4.0 mm (4.0/3.0 mm); Breslow thickness ranged from 0.3 to 11.0 mm, with half of the cases thicker than 4 mm. Only 4% of the cases showed Clark level below IV. The predominant neoplastic cells consisted of spindle-shaped melanocytes in 85% of the cases, whereas the remaining 15% of the cases demonstrated round neoplastic cells forming the main mass of the neoplasm. The mitotic rate of the neoplastic cells was low in 72% of the cases, 23% had an intermediate mitotic rate, and 5% showed a high mitotic rate. On follow-up, 55/113 patients (49%) (with an average of 55 months) demonstrated persistence of the disease. About 4% had local recurrences, 2% of lymph node invasion, 9% systemic metastases, and 12% died from the disease (2 cases of pure DM and 5 cases of combined DM). Although a better prognosis has been postulated for DM when compared with conventional cutaneous malignant melanomas of the same thickness, in most cases, a DM is diagnosed only in established long-standing and thick melanomas. Therefore, dermatologists and dermatopathologists should be more aware of this clinicopathologic variant of cutaneous malignant melanoma.
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PMID:Desmoplastic malignant melanoma: a clinicopathologic analysis of 113 cases. 1849 19

This is a report of a case of multifocal desmoplastic astrocytoma in an 11-year-old child in which we describe the MRI findings and discuss the possible mechanism of its development. The MRI appearances in our case support the view that the tumor is primarily of leptomeningeal or superficial cortical origin, with cystic formation secondary to entrapment of cerebrospinal fluid. The question of whether or not the lesions are metastases or metachronous lesions is also discussed. Desmoplastic astrocytoma at a noninfantile age is extremely rare: only four cases have been reported in the literature so far. Even more unusual is the presence of this lesion in multiple locations at the initial presentation.
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PMID:Multifocal desmoplastic noninfantile astrocytoma. 1853 96


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