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1.
Oncol Lett ; 8(3): 1312-1316, 2014 Sep.
Article En | MEDLINE | ID: mdl-25120714

At present, only eight cases of tracheal adenoid cystic carcinomas (ACCs) mimicking thyroid tumors have been reported. Since there are no guidelines available regarding their diagnosis and treatment, they present a significant clinical challenge. In the present study, patient treatment was analyzed to deliver the first concise summary of treatment options in patients with ACC mimicking a thyroid tumor. In addition, all available data regarding molecular abnormalities of this disease have been discussed. The current study presents a case of a 17-year-old patient with a tracheal ACC mimicking a thyroid tumor. The patient was diagnosed in 2007 with a pathological mass between the left lobe of the thyroid and the trachea, and underwent surgery and radiotherapy. In 2010, multiple lesions in the lungs were diagnosed and pulmonary metastasectomy was performed. Following surgery, the patient has been disease-free for almost 30 months. Thyroid tumor biopsy may reveal ACCs. This pathological report requires further investigation of the head and neck in order to confirm if the disease is of tracheal origin. Patients may present with a neck swelling, hoarseness of voice or dysphagia. Surgery must be considered as first-line therapy for all patients with local disease as it may be curative. For palliative treatment chemoradiotherapy based on cisplatin may be effective. The identification of cytogenetics, tumor suppressor genes, oncogenes, epigenetic alterations and mitochondrial abnormalities specific for ACCs is critical to the development of targeted therapies. Thus far, large studies have only reported the transcriptional activator Myb and mammalian target of rapamycin signaling pathway to be disrupted in ACCs.

2.
Nat Commun ; 5: 3319, 2014 Feb 26.
Article En | MEDLINE | ID: mdl-24569529

Cytoskeletal dynamics during cell behaviours ranging from endocytosis and exocytosis to cell division and movement is controlled by a complex network of signalling pathways, the full details of which are as yet unresolved. Here we show that SILAC-based proteomic methods can be used to characterize the rapid chemoattractant-induced dynamic changes in the actin-myosin cytoskeleton and regulatory elements on a proteome-wide scale with a second to minute timescale resolution. This approach provides novel insights in the ensemble kinetics of key cytoskeletal constituents and association of known and novel identified binding proteins. We validate the proteomic data by detailed microscopy-based analysis of in vivo translocation dynamics for key signalling factors. This rapid large-scale proteomic approach may be applied to other situations where highly dynamic changes in complex cellular compartments are expected to play a key role.


Chemotactic Factors/pharmacology , Cytoskeleton/drug effects , Dictyostelium/metabolism , Proteomics/methods , Amino Acids/metabolism , Cyclic AMP/pharmacology , Cytoskeletal Proteins/genetics , Cytoskeletal Proteins/metabolism , Cytoskeleton/metabolism , Dictyostelium/cytology , Dictyostelium/genetics , Gene Knockout Techniques , Green Fluorescent Proteins/genetics , Green Fluorescent Proteins/metabolism , Isotope Labeling/methods , Kinetics , Mass Spectrometry , Microscopy, Confocal , Microscopy, Fluorescence , Mutation , Protein Transport/drug effects , Proteome/genetics , Proteome/metabolism , Protozoan Proteins/genetics , Protozoan Proteins/metabolism , Time Factors
3.
BMC Cancer ; 11: 166, 2011 May 12.
Article En | MEDLINE | ID: mdl-21569414

BACKGROUND: Rhabdomyosarcoma is a solid tumor, resulting from dysregulation of the skeletal myogenesis program. For rhabdomyosarcomas (RMS) with a predilection for the head and neck, genitourinary tract, extremities, trunk, retroperitoneum, the larynx is still an unusual site. Till now only several cases of this laryngeal tumor have been described in world literature in the adult population. The entire spectrum of genetic factors underlying RMS development and progression is unclear until today. Multiple signaling pathways seem to be involved in ERMS development and progression. CASE PRESENTATION: In this paper we report an interesting RMS case in which the disease was located within the glottic region. We report an embryonal rhabdomyosarcoma of the larynx in 33 year-old man. After unsuccessful chemotherapy hemilaryngectomy was performed. In follow up CT no signs of recurrence were found. Recently patient is recurrence free for 62 months. CONCLUSIONS: Considering the histological diagnosis and the highly aggressive nature of the lesion for optimal diagnosis positron electron tomography (PET) and computerized tomography (CT) of the neck and thorax should be performed. At this time surgical treatment with adjuvant radiotherapy seems to be the treatment of choice for this disease. Rhabdomyosarcoma of the larynx has a better prognosis than elsewhere in the body, probably because of its earlier recognition and accessibility to radical surgery.


Antineoplastic Agents/therapeutic use , Laryngeal Neoplasms/diagnosis , Laryngeal Neoplasms/therapy , Rhabdomyosarcoma, Embryonal/diagnosis , Rhabdomyosarcoma, Embryonal/therapy , Adult , Humans , Male , Positron-Emission Tomography , Tomography, X-Ray Computed , Tracheostomy , Treatment Outcome
4.
Nucleic Acids Res ; 38(13): 4487-502, 2010 Jul.
Article En | MEDLINE | ID: mdl-20338880

Three Rat1/Xrn2 homologues exist in Arabidopsis thaliana: nuclear AtXRN2 and AtXRN3, and cytoplasmic AtXRN4. The latter has a role in degrading 3' products of miRNA-mediated mRNA cleavage, whereas all three proteins act as endogenous post-transcriptional gene silencing suppressors. Here we show that, similar to yeast nuclear Rat1, AtXRN2 has a role in ribosomal RNA processing. The lack of AtXRN2, however, does not result in defective formation of rRNA 5'-ends but inhibits endonucleolytic cleavage at the primary site P in the pre-rRNA resulting in the accumulation of the 35S* precursor. This does not lead to a decrease in mature rRNAs, as additional cleavages occur downstream of site P. Supplementing a P-site cleavage-deficient xrn2 plant extract with the recombinant protein restores processing activity, indicating direct participation of AtXRN2 in this process. Our data suggest that the 5' external transcribed spacer is shortened by AtXRN2 prior to cleavage at site P and that this initial exonucleolytic trimming is required to expose site P for subsequent endonucleolytic processing by the U3 snoRNP complex. We also show that some rRNA precursors and excised spacer fragments that accumulate in the absence of AtXRN2 and AtXRN3 are polyadenylated, indicating that these nucleases contribute to polyadenylation-dependent nuclear RNA surveillance.


Arabidopsis Proteins/metabolism , Arabidopsis/genetics , Exoribonucleases/metabolism , Nuclear Proteins/metabolism , RNA Precursors/metabolism , RNA Processing, Post-Transcriptional , RNA, Ribosomal/metabolism , Arabidopsis/enzymology , Arabidopsis Proteins/genetics , Arabidopsis Proteins/physiology , Exoribonucleases/genetics , Exoribonucleases/physiology , Mutation , Nuclear Proteins/genetics , Nuclear Proteins/physiology , Polyadenylation , RNA Stability , RNA, Ribosomal, 5.8S/metabolism
5.
Otolaryngol Pol ; 58(3): 505-8, 2004.
Article Pl | MEDLINE | ID: mdl-15311594

The authors report the case of 68 year old male operated upon for the branchial cyst of the neck. Histopathological examination showed carcinoma in the wall of the cyst. Ipsilateral tonsillectomy was done and pathology revealed primary focus in the palatine tonsil. Diagnosis of the branchiogenic cancer should be made only when all the criteria defined by Martin in 1950 are met. Patients with carcinoma cells found in branchial cyst should be diagnosed and treated as metastasis from Waldeyer's ring to the lymph nodes of the neck. Ipsilateral tonsillectomy is indicated as blind biopsy. When histopathological examination of the tonsil is negative the patients should be treated as metastasis to the neck from unknown primary focus.


Branchioma/complications , Carcinoma, Squamous Cell/diagnosis , Palatine Tonsil/surgery , Tonsillar Neoplasms/diagnosis , Aged , Branchioma/surgery , Carcinoma, Squamous Cell/pathology , Carcinoma, Squamous Cell/secondary , Carcinoma, Squamous Cell/surgery , Diagnosis, Differential , Humans , Male , Palatine Tonsil/pathology , Tonsillar Neoplasms/pathology , Tonsillar Neoplasms/secondary , Tonsillar Neoplasms/surgery , Tonsillectomy
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