Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0001430 (adenoma)
 21,222 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This review summarizes the new findings on salivary gland pathology under the following categories: immunohistochemistry; molecular genetics; newly recognized tumour types; known tumour entities with new findings; and progression of salivary gland tumours. In the application of immunohistochemistry, CD117 can aid in highlighting the luminal cell component of various salivary gland tumours, whereas p63 or maspin can aid in highlighting the abluminal cell component. A high Ki67 index remains the most useful marker to predict adverse outcome in salivary gland carcinoma. Specific chromosomal translocations are recognized in pleomorphic adenoma (with translocation involving PLGA1 or HMGA2 gene) and mucoepidermoid carcinoma (with MECT1-MAML2 gene fusion). Newly recognized entities include: sclerosing polycystic adenosis (with recent molecular evidence supporting its neoplastic nature), sclerosing mucoepidermoid carcinoma with eosinophilia, keratocystoma, adenoma with additional stromal component (lymphadenoma, lipoadenoma and adenofibroma), cribriform adenocarcinoma of the tongue and signet ring adenocarcinoma of minor salivary gland. Known tumour entities with new findings include: salivary duct carcinoma (with newly recognized mucinous, micropapillary and sarcomatoid variants), intraductal carcinoma (with controversies in terminology), mucoepidermoid carcinoma (with newly proposed grading parameters and oncocytic variant), epithelial-myoepithelial carcinoma (with newly recognized morphological variants), small cell carcinoma (with most cases being related to Merkel cell carcinoma), extranodal marginal zone B-cell lymphoma (with specific chromosomal translocation) and chronic sclerosing sialadenitis (being a component of IgG4-related sclerosing disease). Progression of salivary gland tumours can take the form of malignant transformation of a benign tumour, progression from low-grade to high-grade carcinoma, dedifferentiation, or stromal invasion of an in situ carcinoma.
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PMID:Advances in salivary gland pathology. 1753 14

The molecular genetic background of salivary gland neoplasms has not been characterized in detail to date. However, interesting target genes which could be used as prognostic and diagnostic molecular biomarkers have already been identified, e.g. CRTC1-MAML2 in mucoepidermoid carcinoma, or PLAG1 and HMGA2 in pleomorphic adenoma. In particular, CRTC1-MAML2 has shown strong diagnostic and prognostic potential in recent years. One of the major advantages of molecular tumor markers is that valid results are obtained on minute cell and/or tissue samples. Due to high-throughput techniques like comparative genome hybridization (CGH), micro- or gene profiling array detection of new marker genes can be expected in the future. This is also true for the most frequent malignant salivary gland tumors after the mucoepidermoid carcinoma, i.e. adenoid cystic carcinomas and acinic cell carcinomas.
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PMID:[Molecular markers in salivary gland tumors: their use in diagnostic and prognostic workup]. 1978 54

Histologic grade is a significant predictor of outcome in salivary gland carcinomas. We underlined some newly recognized findings in grading: (i) evidence of high grade anaplastic transformation, occurring either at initial presentation or at relapse, is correlated with the clinical outcome; (ii) extracapsular invasion of carcinoma ex pleomorphic adenoma should be measured because it is now a known prognostic marker; (iii) the MIB-1 proliferative index is the most useful immunohistochemical marker for prognosis of all salivary gland carcinomas. In recent years, specific chromosomal translocations have been reported in some salivary glands tumors. The PLAG1 and HMGA2 gene translocations have so far been identified only in pleomorphic adenomas, and their detection may potentially aid in diagnosis. The mucoepeidermoid carcinoma translocated 1--mastermind like gene family (MECT1-MAML2) translocation, characterizing mucoepidermoid carcinoma, is also a prognostic marker. Newly recognized entities are summarized with special interest on differential diagnosis pitfalls: oncocytic mucoepidermoid carcinoma, sclerosing mucoepidermoid carcinoma with eosinophilia, sclerosing polycystic adenosis, lymphadenoma, lipoadenoma, newly recognized morphological variants of epithelial-myoepithelial carcinoma, cribriform adenocarcinoma of the tongue, signet ring adenocarcinoma of minor salivary gland. Specific chromosomal translocations and latest knowledge of the molecular mechanisms responsible for salivary glands oncogenesis (Epidermal Growth Factor Receptor [EGFR], phosphorylated AKT, topoisomerase II alpha, p27, Stat 3, maspin) should pave the way toward future targeted therapies.
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PMID:[2009 update in salivary gland tumoral pathology]. 1990 Jun 33

Both the variety and rarity of salivary gland carcinomas pose challenge for using histologic grade and biomarkers to predict outcome. Mucoepidermoid carcinoma is the histologic subtype for which grading is most prognostically and therapeutically relevant. This tumor is graded using standard schemes in a 3-tier manner with the intermediate-grade category shows the most variability between grading systems and thus the most controversy in management. The t(11;19)(q21; p13) MECT1-MAML2 translocation may be an objective marker that can help to further stratify difficult cases. Adenoid cystic carcinomas are graded based on pattern with solid areas correlating with a worse prognosis. Occasionally, adenoid cystic carcinomas may undergo transformation to highly aggressive pleomorphic high-grade carcinomas with frequent nodal metastases. Comparative genomic hybridization has revealed several chromosomal regions (such as 1p32-p36, 6q23-q27) of prognostic interest in adenoid cystic carcinoma. Carcinoma ex-pleomorphic adenoma is actually a category of tumors rather than a single tumor type with both aggressive and indolent versions. These tumors should be further qualified as to type/grade of carcinoma and extent, as intracapsular and minimally invasive tumors behave favorably. Acinic cell carcinomas, although generally considered low grade, can recur, metastasize, or even prove lethal in a significant number of cases suggesting amenability to a grading scheme to separate these biologic groups. Although aggressive histologic parameters (anaplasia, necrosis, and mitoses) are predictive of poor outcome, a standard grading scheme does not yet exists. Acinic cell carcinomas can also undergo high-grade transformation.
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PMID:Histologic grading and prognostic biomarkers in salivary gland carcinomas. 2116 36

The recurrent translocations t(11;19) and t(11;15) resulting in CRTC1-MAML2 or CRTC3-MAML2 fusion oncogenes, respectively, are identified in a large proportion of mucoepidermoid carcinomas (MECs) of the salivary gland and have impact on prognosis. However, there are conflicting data on the specificity of this translocation, in particular, on its putative occurrence in Warthin tumor (WT) of the parotid gland as reported in few previous cases. It was speculated that extensive squamous metaplasia could explain the presence of t(11;19) translocation in a subset of WTs. We evaluated 76 salivary gland tumors, including 16 cases of metaplastic WT and 8 cases of pleomorphic adenoma (PA) with squamous and/or mucinous metaplasia, extensive enough morphologically to mimic MEC. Detection of CRTC1-MAML2 and CRTC3-MAML2 fusion transcripts and MAML2 gene break was performed using nested reverse transcription-polymerase chain reaction and fluorescence in situ hybridization (FISH), respectively. None of 16 analyzed metaplastic WTs showed positivity for fusion transcripts CRTC1-MAML2 or CRTC3-MAML2, and none showed rearrangement of the MAML2 gene by FISH. Similarly, we did not detect these transcripts or break of MAML2 gene in any case of PA with extensive squamous/mucinous metaplasia. For comparison, 40 cases of low-grade MEC were also evaluated. CRTC1-MAML2 and CRTC3-MAML2 fusion transcripts were detected in 17 and 5 cases, respectively. The FISH method using break-apart probe demonstrated the MAML2 gene rearrangement in 25 cases of low-grade MEC. In contrast to low-grade MEC, neither metaplastic WTs nor metaplastic PAs harbored translocations t(11;19) and anticipated t(11;15) resulting in CRTC1-MAML2 and CRTC3-MAML2 fusion transcripts, respectively, and/or MAML2 gene rearrangement.
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PMID:CRTC1-MAML2 and CRTC3-MAML2 fusions were not detected in metaplastic Warthin tumor and metaplastic pleomorphic adenoma of salivary glands. 2412 Nov 73

Tumours of the lacrimal gland are rare, but the prognosis may be grave. To date, no population-based incidence and distribution data on lacrimal gland tumours exist. In addition, almost nothing is known about the genetic profile of epithelial tumours of the lacrimal gland. We collected specimens and clinical files on all biopsied lacrimal gland lesions in Denmark over a 34-year period and re-evaluated the diagnosis to provide updated population-based incidence rates and epidemiological characteristics. Clinical data regarding symptoms, clinical examinations, treatment and follow-up were collected for patients with adenoid cystic carcinoma (ACC), pleomorphic adenoma (PA), carcinoma ex pleomorphic adenoma (Ca-ex-PA) and mucoepidermoid carcinoma (MEC). Using RT-PCR, FISH, immunohistochemistry, Q-PCR and high-resolution array-based comparative genomic hybridization (arrayCGH) we explored the genetic characteristics including copy number alterations (CNA) in ACC, PA, Ca-ex-PA and MEC. The incidence of biopsied lacrimal gland lesions was 1.3/1,000,000/year, and ~50% were neoplastic lesions. Of these, 55% were malignant tumours with epithelial tumours as the most frequent. The overall incidence was increasing, and this was caused by an increase in biopsied non-neoplastic lesions. We found that 10/14 ACCs either expressed the MYB-NFIB fusion gene and/or had rearrangements of MYB. All ACCs expressed the MYB protein. ACC was characterized by recurrent copy number losses involving 6q, 12q and 17q and gains involving 19q, 8q and 11q. ArrayCGH revealed an apparently normal genomic profile in 11/19 PAs. The remaining 8 PAs had recurrent copy number losses involving 1p, 6q, 8q and 13q and gain involving 9p. PA expressed PLAG1 in all tumours whereas only 2/29 tumours expressed HMGA2. Ca-ex-PA was characterized by recurrent copy number gain involving 22q. PLAG1 was expressed in 3/5 Ca-ex-PA whereas none of these tumours expressed HMGA2. MEC expressed the CRTC1-MAML2, and this fusion was found to be tumour-specific for lacrimal gland MEC. In conclusion, lacrimal gland lesions that require pathological evaluation are rare in the Danish population, and the incidence rate of biopsied benign lesions is increasing. Epithelial tumours of the lacrimal gland are molecularly very similar to their salivary gland counterparts in the expression of the tumour-specific fusion genes and in their genomic imbalances as demonstrated by arrayCGH. MYB-NFIB is a useful biomarker for ACC and MYB, and its downstream target genes may be potential therapeutic targets for these tumours.
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PMID:Tumours of the lacrimal gland. Epidemiological, clinical and genetic characteristics. 2489 72