Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of nodal nevus present in enlarged lymph nodes with changes of dermatopathic lymphadenopathy sampled by fine-needle aspiration (FNA) cytology prior to clinical evaluation of the patient. This lymph node pathology was established later by lymph node excisional biopsy, by which along with a skin biopsy the dermatopathic lymphadenopathy was tentatively attributed to early mycosis fungoides. The FNA revealed fairly atypical melanotic tissue from the dermatopathic lymphadenopathy along with nodules of uniform melanocytic nevoid cells, the presence of which in combination with the dermatopathic atypical tissue provided a tentative diagnosis of metastatic melanoma of unknown primary, with the diagnosis of nodal nevus presented as a less likely possibility. This is to our knowledge the first cytologic report on FNA of nodal nevus, which besides presenting cytologic findings of this entity highlights some of the problems related to providing an accurate diagnosis, if this exceptionally unusual pathologic entity is encountered in lymph nodes sampled for enlargement from pathologies unrelated to this entity. The subject of nevus changes in lymph nodes is briefly discussed.
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PMID:Nevus-cell aggregates in lymph nodes: fine-needle aspiration cytologic findings and resulting diagnostic difficulties. 1534 90

Malignant melanoma (MM) remains a pediatric rarity world-wide, but perhaps more so in black Africans. To the best of our knowledge, the current report of MM in a two-and-a-half-year-old Nigerian who had a pre-existing congenital giant hairy nevus is probably the first (in an accessible literature) in a black African child. Primary neoplastic transformation and metastatic spread were suggested by the appearance of multiple swellings over the "garment" precursor nevus at the posterior trunk, multiple ipsilateral axillary nodal enlargement, and fresh occipital swellings postadmission. Smaller-sized hyperpigmented lesions with irregular, nonlobulated, and frequently hairy surfaces were also discernible over the upper and lower extremities, but the face, anterior trunk, and mucosal surfaces were relatively spared. A diagnosis of MM was confirmed by the subsequent histopathologic findings from the fine-needle aspirate and biopsy specimens. Chemotherapy was initiated but was truncated shortly after by parent-pressured discharge. Despite the rarity of MM in a tropical African setting where management options are few, the current case underscores the need for a high clinical index of diagnostic suspicion, an early pursuit of investigative confirmation, and prophylactic excision in children with the predisposing skin lesions, like congenital giant hairy nevus. An expounded discourse of the possible precursors and management options of MM is provided. We emphasize the need for institutional cost subsidy for anticancer care in tropical children.
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PMID:Malignant melanoma in a black child: predisposing precursors and management. 1554 Aug 91

The expression of matrix metalloproteinases (MMPs) is frequently altered during malignant transformation. We examined the profile of three recently cloned MMPs, MMP-21, MMP-26, and MMP-28, in melanomas in vivo and in culture. Immunohistochemistry for MMPs-21, -26, -28, and -13 in melanoma specimens (27 nonmetastatic, 26 with nodal micrometastases, and 10 in situ melanomas) from 63 patients was performed. MMP-21 was expressed in melanoma cells in 29/53 cases, being more frequent in melanoma samples without micrometastases. Six out of ten in situ melanomas were positive, while five nevus samples were negative. MMP-26 and -28 were not generally expressed in melanoma cells. MMP-13 was detected in melanoma cells in 36/53 samples. MMP-21 was not found in sentinel nodes with metastases, while MMP-13 was seen in all of them. MMP-21 messenger RNA was variably expressed in all five melanoma cell lines investigated using reverse transcriptase-polymerase chain reaction. Our results suggest that expression of MMP-21 may serve as a marker of malignant transformation of melanocytes and does not associate with the presence of micrometastases.
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PMID:MMP-21 is upregulated at early stages of melanoma progression but disappears with more aggressive phenotype. 1613 64

The distinction between Spitz nevus and melanoma is currently possible, applying a set of definite histological criteria. However, in certain lesions deviating from the stereotypical morphology of classic Spitz nevi ("atypical Spitz tumors"), the differentiation between benign and malignant cases appears problematic because objective criteria for a reliable diagnosis are lacking. We report the clinicopathologic findings of 12 patients with atypical Spitz tumors, who underwent sentinel node biopsy. All the tumors, composed of spindle and/or epithelioid cells, histologically showed features referable to Spitz nevi mixed to features generally found in malignant melanomas. Nine patients were females and three males, ranging in age from 2 to 48 years (mean, 23.2 years). The size of lesions ranged from 5 to 9 mm, the thickness from 1.12 to 5.70 mm. Nodal micrometastases were found in 4 (33.3%) patients. Among the patients with positive sentinel node, two showed minimal nodal involvements; one patient showed additional tumor deposits in one nonsentinel regional node. All patients are alive and free of disease with a follow-up of 2 to 90 months (mean, 26.3 months). Metastasizing and nonmetastasizing cases appeared clinically and histologically indistinguishable. The statistical analysis showed no significant difference between the two groups. Results suggested that all the reported cases may constitute a relatively homogeneous morphological group of lesions with a relevant metastatic potential that may be underdiagnosed.
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PMID:Sentinel lymph node biopsy in patients with "atypical Spitz tumors." A report on 12 cases. 1678 74

Sentinel lymph node evaluation has enabled identification of patients with cutaneous melanoma who might benefit from elective regional lymph node dissection. Sentinel nodes are currently assessed by histologic and reverse transcription polymerase chain reaction (RT-PCR) evaluation for melanocyte-specific markers. The clinical significance of positive findings by RT-PCR in the absence of histologic evidence of metastasis (HIS(NEG)/PCR(POS)) remains unclear. Examination of 264 lymph nodes from 139 patients revealed histopathologic positivity in 34 patients (24.5%), in which 26 also demonstrated simultaneous RT-PCR positivity (HIS(POS)/PCR(POS)). Of 35 HIS(NEG)/PCR(POS) patients (25.2%), five also had nodal capsular nevi. In total, capsular nevi were detected in 13 patients (9.4%). A total of 70 patients (50.4%) had negative sentinel nodes by both histopathology and RT-PCR (HIS(NEG)/PCR(NEG)). Over a median follow-up of 25 months, local and/or systemic recurrence developed in 31 patients (22.3%). Recurrence rates were similar among patients with histopathologic evidence of sentinel lymph node metastasis, irrespective of RT-PCR status (HIS(POS)/PCR(POS) 62%; HIS(POS)/PCR(NEG) 75%). In contrast, only 10% of HIS(NEG)/PCR(NEG) patients developed recurrence, significantly less than those in either HIS(POS) group (P<0.0001). Recurrence in the HIS(NEG)/PCR(POS)/CN(NEG) group (7.7%) was comparable to that in HIS(NEG)/PCR(NEG) patients and significantly lower than that in either HIS(POS) group (P<0.0001). The only independent prognostic factors identified by multivariate analysis were the Breslow thickness of the primary tumour and histopathologic positivity of sentinel nodes. Our findings support previous observations that histopathologic evidence of metastatic melanoma in sentinel lymph nodes is an independent predictor of disease recurrence. In contrast, detection of tyrosinase mRNA by RT-PCR alone does not appear to increase the likelihood of short-term disease recurrence.
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PMID:Detection of tyrosinase mRNA in the sentinel lymph nodes of melanoma patients is not a predictor of short-term disease recurrence. 1733 54

Although the incidence of melanoma is still rising in Caucasian populations, the increase in mortality has leveled off. Improvements in early diagnosis, with more frequent diagnosis of low-risk patients (i.e. those with <1 mm of tumor thickness), is the main reason for these divergent developments. Primary prevention has not yet been successful and recent studies have demonstrated the lack of effectiveness of sunscreen in preventing nevi in children. Progress was made in early melanoma diagnosis when dermoscopy and digital dermoscopy were introduced, and computer algorithms have proved to be highly efficacious for automated melanoma diagnosis. Primary melanomas are now excised with narrower surgical margins of 1-2 cm. Sentinel-node biopsy is recommended as a nodal staging procedure in patients with tumor thickness of 1 mm and more, but the prognostic impact of this procedure has not yet been demonstrated. New imaging techniques, e.g. whole-body MRI and PET-CT, provide more accurate staging, particularly in patients with apparent metastasis, and facilitate decisions on surgical treatment strategies. Staging is now based on the 2001 TNM classification including tumor thickness and histopathologic ulceration in stages I and II and lymph node micro and macro-metastasis in stage III. A stage- and risk-adopted follow-up schedule is proposed for melanoma surveillance. Adjuvant therapy with interferon-alpha in high-risk patients offers a small benefit in terms of recurrence-free and overall survival; the optimal dosage and duration of this treatment are still to be defined. Almost no progress has been made in the medical treatment of disseminated metastasis of melanoma. Therapy with dacarbazine and a few other single agents remains the first-line treatment approach of choice. A number of new treatment modalities, including targeted molecules and immunologic approaches with monoclonal antibodies, are under development; hopefully, new treatment modalities will be available in the near future.
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PMID:Diagnosis and treatment of cutaneous melanoma: state of the art 2006. 1749 87

Subungual melanoma (SUM) is an uncommon variant of melanoma that is often difficult to diagnose, both clinically and pathologically. In an attempt to provide pathologic clues to diagnosis, especially in early lesions or small biopsies, and to provide practical advice to pathologists in reporting, the clinicopathologic features of 124 cases of SUM were reviewed, the largest series reported to date. The features of 28 cases of subungual melanoma in situ (MIS), comprising 4 cases of MIS and 24 cases where areas of MIS were present adjacent to dermal-invasive SUMs, were compared with those of a similar number of acral nevi to identify useful distinguishing features. The median age of the patients was 59 years and the most common site was the great toe (24%). Nine percent of cases were AJCC stage 0, 14% were stage I, 41% were stage II, 32% were stage III, and 4% were stage IV at initial diagnosis. The commonest histogenetic subtype was acral lentiginous (66%), followed by nodular (25%) and desmoplastic (7%). The majority of tumors were locally advanced at presentation with 79% being Clark level IV or V. The median Breslow thickness was 3.2 mm. The median mitotic rate was 3 per mm and 33% of cases demonstrated primary tumor ulceration. Seven of 29 patients (24%) who underwent a sentinel lymph node biopsy had nodal disease. Multivariate Cox-regression analysis showed higher disease stage to be the only significant predictor of shortened survival. In comparison to acral nevi, MIS more frequently showed lack of circumscription, a prominent lentiginous growth pattern, predominance of single cells over nests, moderate-to-severe cytologic atypia, a dense and haphazard pagetoid intraepidermal spread of melanocytes, and the presence of junctional/subjunctional lymphocytes ("tumor infiltrating lymphocytes"). Tumor infiltrating lymphocytes have not been highlighted previously as a feature of subungual MIS and represent a useful diagnostic clue. Guidelines for the reporting of SUMs are also presented. Knowledge and recognition of the pathologic features of SUMs and the important features that distinguish them from nevi should reduce the frequency of misdiagnosis.
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PMID:Subungual melanoma: a study of 124 cases highlighting features of early lesions, potential pitfalls in diagnosis, and guidelines for histologic reporting. 1804 47

The clinical and histopathological similarities of nodular melanoma and Spitz nevus currently still make a definitive diagnosis difficult. We report here a case of nodular melanoma that was extremely difficult to diagnose both clinically and histopathologically. The primary tumor was a blackish nodule on the scalp and biopsy was performed for pathological diagnosis. Although our first impression was malignant melanoma, we asked two dermatopathologists for second opinions; however, one diagnosed a melanoma and the other a Spitz nevus. Faced with this clinical dilemma, an operation was performed with sentinel node biopsy. Only one sentinel node suggested a metastasis. Histopathological diagnosis to establish whether it was a melanoma metastasis or nodal nevi was also difficult, and we again asked for second opinions from another dermatopathologist in the USA. According to its clinical course and the histopathology of the sentinel lymph node with additional immunohistochemistry, this case was finally diagnosed as a nodular melanoma (T4aN1aM0, stage IIIA). To date, the patient has been given five courses of chemotherapy at 6-month intervals, with no local recurrence or distant metastases so far.
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PMID:Nodular malignant melanoma with Spitz nevus-like pathological features finally confirmed by the pathological feature of the sentinel lymph node. 1807 8

Most nodal nevi are intracapsular and present the morphology of conventional nevi; less frequently, they show the appearance of common and cellular blue nevi. We report a case of an nodal capsular, trabecular and intraparenchymal melanocytic nevus with balloon-cell change in a patient with a malignant melanoma which arose in a pre-existing cutaneous giant congenital nevus, showing balloon-cell degeneration.
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PMID:Nodal melanocytic nevus with balloon-cell change (nodal balloon-cell nevus). 1831 41

S100 protein is a sensitive marker for melanomas and peripheral nerve sheath tumors. It is, however, expressed by other mesenchymal and epithelial tumors. Despite its low specificity, S100 protein is valuable for the diagnosis of desmoplastic melanomas and peripheral nerve sheath tumors, for which no specific marker is available. Sox10 is a neural crest transcription factor crucial for specification, maturation, and maintenance of Schwann cells and melanocytes. Anti-Sox10 antibody was applied to a variety of neural crest-derived tumors, mesenchymal and epithelial neoplasms, and normal tissues. Sox10 nuclear expression was found in 76 of 78 melanomas (97%) and 38 of 77 malignant peripheral nerve sheath tumors (49%) whereas S100 protein was expressed in 71 melanomas (91%) and 23 malignant peripheral nerve sheath tumors (30%). Sox10 was diffusely expressed in schwannomas and neurofibromas. Sox10 reaction was seen only in sustentacular cells of pheochromocytomas/paragangliomas, and occasionally carcinoid tumors from various organs, but it was not seen in the tumor cells. In normal tissues, Sox10 was expressed in Schwann cells, melanocytes, and myoepithelial cells of salivary, bronchial, and mammary glands. Sox10 reaction was not identified in any other mesenchymal and epithelial tumors except for myoepitheliomas and diffuse astrocytomas. Sox10 was expressed by metastatic melanomas and nodal capsular nevus in sentinel lymph nodes, but not by other lymph node components such as dendritic cells. Our results indicate that Sox10 will serve as a more sensitive and specific marker for the diagnosis of melanocytic and schwannian tumors than S100 protein.
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PMID:Sox10: a pan-schwannian and melanocytic marker. 1863 17


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