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A Ryska

Publications and source records attributed to A Ryska.

At least 19 recordsLinked to original sources
PubMed2006

Double germline mutations in the RET Proto-oncogene in MEN 2A and MEN 2B kindreds.

Medullary thyroid carcinoma (MTC) is a rare form of thyroid cancer representing about 10% of all thyroid malignancies. It occurs mostly as a sporadic tumor or in association with autosomal dominant inherited cancer syndromes--multiple endocrine neoplasia (MEN) types 2A and 2B and familial MTC. Germline mutations in exons 8, 10, 11, 13, 14, 15 and 16 of the RET proto-oncogene are found in most of the familial cases. There are only a few published data reporting multiple germline mutations in the RET proto-oncogene. We have detected double germline mutations in 2 different exons on the same RET allele in two MEN 2 families. In the MEN 2A family, double germline mutation in exons 10 (Cys620Phe) and 13 (Tyr791Phe) was detected. In the MEN 2B family, beside the classical germline mutation in exon 16 (Met918Thr) a second germline mutation in exon 13 (Tyr791Phe) was found. This study revealed that MEN 2 syndromes can also be caused by double germline mutations in the RET proto-oncogene and these families can be added to small worldwide cohort of families with multiple germline mutations.

Adolescent↗
PubMed2006

New multiple somatic mutations in the RET proto-oncogene associated with a sporadic medullary thyroid carcinoma.

Medullary thyroid carcinoma (MTC) occurs mostly as a sporadic tumor or in connection with inherited cancer syndromes-multiple endocrine neoplasia (MEN) types 2A and 2B and familial MTC. Germline mutations in the RET proto-oncogene are found in most of the familial cases. Somatic mutations in the RET proto-oncogene are detected in 23%-69% of patients with sporadic MTC. The most frequent somatic mutation is Met918Thr in exon 16 and only a small percentage of mutations in other RET exons have been observed. In a very few cases double mutations were found. Genetic screening for somatic mutations in RET exons 10, 11, 13, 14, 15, and 16 in Czech patients with sporadic MTC was carried out by DNA sequencing. This study presents a new triplesomatic mutation Gly911Asp, Met918Thr, and Glu921Lys in exon 16 of the RET proto-oncogene detected in an 18-year-old Czech male patient. In the second case, a new double-somatic mutation Val591Ile in exon 10 with a concomitant somatic mutation Met918Thr in exon 16 was found in a 77-year-old Czech female patient. These both newly described somatic multiple mutations were revealed in a hemizygous status, the loss of heterozygosity in tumor tissues in comparison with germline DNA was confirmed.

Adolescent↗
PubMed2006

[The use of immunohistochemistry in the differential diagnosis of thyroid gland tumors with follicular growth pattern].

The aim of the study was to evaluate the expression of galectin-3 (gal3), cytokeratin 19 (CK19), neural cell adhesion molecule (NCAM), and E-cadherin (Ecad) in thyroid gland tumors with follicular growth pattern with particular focus on their use in differential diagnosis. A series of 139 cases - 87 follicular adenomas (FAs), 26 follicular carcinomas (FCs), and 26 cases of the follicular variant of papillary carcinoma (FVPC) was studied. Expression of gal3 was found in 29/87 (33%) of FAs, in 13/26 (50%) of FCs, and in 24/26 (92%) of FVPCs. Expression of CK19 was found in 11/87 (13%) of FAs, in 4/26 (15%) of FCs, and in 17/26 (65%) of FVPCs. Expression of NCAM was found in 60/87 (69%) of FAs, in 20/26 (77%) of FCs, and in 7/26 (27%) FVPCs. Expression of Ecad was found in 81/87 (93%) of FAs, in 22/26 (85%) of FCs, and in 17/26 (65%) of FVPCs. The sensitivity and specificity of gal3 for malignancy were 0.70 and 0.85, of CK19 0.48 and 0.98, of NCAM 0.28 and 0.47, and of Ecad 0.48 and 0.20, respectively. A significant difference (p < 0.05) in expression of all studied markers between FVPC versus FA and FC was found, in contrast to FA and FC. Therefore, the use of gal3 and CK19 in differential diagnosis of FVPC versus FA and FC can be recommended.

Adenoma↗
PubMed2006

Low grade myofibroblastic sarcoma of tongue: a case report.

A case of a 24-year-old woman with a 6 weeks lasting nodule of the right margin of the tongue is described. The nodule was 20 mm in diameter and showed surface ulceration. The diagnosis of low grade myofibroblastic sarcoma was supported by histological, immunohistochemical and electronmicroscopic examination. Although the tumor resection was not complete, the patient is free of disease 1 year after operation. The differential diagnostics of low grade myofibroblastic sarcoma is discussed.

Adult↗
PubMed2005

Exon 5 of the RET proto-oncogene: a newly detected risk exon for familial medullary thyroid carcinoma, a novel germ-line mutation Gly321Arg.

Familial medullary thyroid carcinoma (FMTC) is an autosomal dominant inherited disease, characterized by germ-line mutations in the RET proto-oncogene, mainly in exons 10 and 11, but also in exons 13, 14 and 15. Recently, mutations in exons 8 and 16 associated with FMTC were also described. In the herein presented study, single strand conformation polymorphism (SSCP) method for rapid screening of mutations in the RET proto-oncogene and fluorescent sequencing method were used. In one Czech family with FMTC, we have identified a novel missense point mutation of the RET proto-oncogene in exon 5, that results in substitution of arginine by glycine at codon 321 in the cadherin-like domain of ret protein. It seems that this mutation causes FMTC as no other mutation was found in the classical risk exons (10, 11, 13, 14, 15 and 16) of the RET proto-oncogene. The mutation cosegregates with medullary thyroid carcinoma (MTC) or C cell hyperplasia (CCH) in two patients; two other family members are mutation carriers without clinical signs of MTC so far. To improve the diagnosis of FMTC, analysis of exon 5 of the RET proto-oncogene should be considered in families with no identified classical RET mutations.

Adult↗
PubMed2005

Cystic hypersecretory carcinoma: rare and poorly recognized variant of intraductal carcinoma of the breast. Report of five cases.

AIMS: To report five cases of a rare variant of intraductal carcinoma of the breast, so-called cystic hypersecretory carcinoma. The clinical and pathological characteristics of the lesion are described, along with a review of the literature. METHODS AND RESULTS: The patients were females aged between 53 and 78 years (average 66.8 years). The size of the lesions ranged between 70 and 80 mm in largest dimension. In two cases, the development of high-grade invasive ductal carcinoma was observed; in one additional case there was recurrence of high-grade in-situ carcinoma after 3 years. This emphasizes the importance of correct diagnosis of this potentially aggressive lesion. Strong over-expression of HER-2/neu protein was observed in three cases, including the two with an invasive component. Protein p53 was variably positive in all cases. Steroid receptor immunohistochemistry yielded variable results with only one case being positive for both oestrogen and progesterone receptors. Interestingly, in most cases (4/5) staining for androgen receptors was observed. CONCLUSIONS: Cystic hypersecretory ductal carcinoma of the breast is a rare distinctive variant of ductal carcinoma in situ. It has the potential for invasive growth and the development of metastases.

Aged↗
PubMed2005

[Cystic hypersecretory carcinoma: rare and potentially aggressive variant of intraductal carcinoma of the breast. Report of five cases].

OBJECTIVE: To describe a poorly recognized histological and immunohistochemical features of cystic hypersecretory carcinoma of breast, including the overexpression of HER-2/neu protein and androgen receptors. SUBJECT: Review of clinical and pathological features of 5 cases of cystic hypersecretory carcinoma. SETTING: Private Bioptic Lab, Plzen and Department of Pathology, Charles University, Plzen. SUBJECT AND METHODS: Five cases of rare variant of intraductal carcinoma of the breast, so-called cystic hypersecretory carcinoma, are reported. The patients were females aged between 53 and 78 years (average 66.8 years). The size of the lesions ranged between 7 and 8 cm in largest dimension. RESULTS: In two cases, the development of high grade invasive ductal carcinoma was observed; in one additional case there was recurrence of high grade in situ carcinoma after three years. Strong overexpression of HER-2/neu protein was observed in three cases including those two with invasive component. Protein p53 was variably positive in all cases. Steroid receptor immunohistochemical study yielded variable results with only one case being positive for both estrogen and progesterone receptors. Interestingly, in most case (4/5) staining for androgen receptors was observed. CONCLUSION: The importance of correct diagnosis of this potentially aggressive lesion is emphasized. The differential diagnosis of breast lesions with predominantly cystic growth pattern is discussed in detail.

Aged↗
PubMed2005

[Anaplastic carcinoma of the thyroid gland with chondrosarcomatous component].

The case of an 83-year-old female with a history of a two months enlarging goiter is presented. Clinically, a firm goiter with fixation to surrounding soft tissues was found. Fine needle aspiration cytology was performed with the conclusion of a sarcomatoid variant of anaplastic carcinoma of the thyroid gland; biopsy was recommended. The patient was operated on and died six months after operation with metastatic dissemination in lymphatic nodes and lungs. Histologically, an invasive high-grade tumor composed of irregular, sometimes bizarre spindled or polygonal cells intermingled with foci of chondroid tissue was seen. The cartilage comprised lobularly arranged chondrocytes with irregular nuclei; bi- or multinucleated chondrocytes were present as well. The diagnosis of thyroid anaplastic carcinoma with chondrosarcomatous component was established. Differential diagnostics of this tumour is discussed.

Aged↗
PubMed2005

[Lymphoepithelial cyst of the thyroid coexistent with amyloid goiter].

A case of amyloid goiter in a 73-year-old man with systemic amyloidosis complicating long lasting rheumatoid arthritis is reported. The thyroid gland was massively infiltrated with amyloid and contained foci of fat tissue and epithelial solid cell nests. Incidentally, a cyst lined by squamous epithelium, with small amount of lymphocytes in the subepithelial stroma was found. This cyst fulfilled the criteria for the diagnosis of a lymphoepithelial cyst presumably of branchiogenic origin. The herein described case of simultaneous occurrence of branchiogenic cyst and amyloid goiter represents, to our best knowledge, a unique coexistence of these two entities. The possible relationship between these lesions and their differential diagnosis is discussed.

Aged↗
PubMed2004

Epithelioid haemangiosarcoma of the thyroid gland. Report of six cases from a non-Alpine region.

AIM: To report a series of six cases of thyroid haemangiosarcoma (HAS) from a non-Alpine region. METHODS AND RESULTS: The patients were four females and two males, aged 54-81 years (average 68 years). The tumours presented as large haemorrhagic masses (diameter 40-70 mm, average 56 mm) with extensive necrosis. Histologically, they were composed of polymorphous epithelioid cells with vesicular nuclei and abundant eosinophilic cytoplasm with occasional intracytoplasmic lumina. Mitotic activity was high. Tumor cells expressed vimentin (6/6), CD31 (6/6), FVIII (5/6), CD34 (2/6), and cytokeratins (5/6). One tumour (1/6) over-expressed p53 protein in more than 20% of cells. Ultrastructurally, Weibel-Palade bodies were present (4/6). Clinical follow-up of four patients (range 3-24 months, median 9 months) showed that two of them have died of the disease 0.5 and 3 months after diagnosis, one died of unrelated causes (with 24 months' uneventful follow-up) and one is alive 21 months after operation with no evidence of disease. CONCLUSIONS: Although thyroid HAS is usually regarded as an extremely aggressive neoplasm with a dismal prognosis similar to anaplastic carcinoma, one of our cases suggests that HAS can behave in a less aggressive way. The morphological, immunohistochemical and ultrastructural findings support the hypothesis that thyroid HAS is a distinct entity, unrelated to other thyroid malignancies.

Aged↗
PubMed2004

[Thyroid peroxidase in the differential diagnosis of thyroid gland lesions. A marker of biological behavior or differentiation?].

Human thyroid peroxidase (hTPO) is a membrane protein with a key role in the thyroid hormones synthesis. Loss of hTPO was described in malignant tumours of the thyroid gland. hTPO was tested as a marker of malignancy. Immunohistochemical study of hTPO in 321 thyroid lesions (45 malignant tumours, 72 benign tumours, 199 benign non-tumours lesions, and 5 normal thyroid glands) is presented. The sensitivity of hTPO in predicting malignancy in thyroid is 64%, and the specificity is 87%. Thus, hTPO is of limited value in the diagnosis of thyroid malignancy. The authors discuss the role of hTPO as a marker of differentiation.

Adolescent↗
PubMed2004

[Matrix-producing breast carcinoma with myoepithelial differentiation--description of 11 cases and review of literature aimed at histogenesis and differential diagnosis].

OBJECTIVE: Presentation of variable morphology of the so-called matrix-producing carcinoma, the rare variant of metaplastic breast carcinoma. Establish the extent of myoepithelial phenotype by immunohistochemistry and assess behaviour of the lesion. DESIGN: Review of clinicopathologic data of 11 cases. SETTING: Private Biopsy Lab s.r.o., Pilsen and Sikl's Department of Pathology, Charles University and Faculty Hospital, Pilsen. METHODS: Included are eleven cases from Breast Registry, Biopsy Lab s.r.o., Pilsen and Pathology Department, Faculty Hospital in Hradec Králové and Martin and from Biopsy Lab in Horovice. Analyzed were morphology, stage, grade and follow up. Myoepithelial phenotype was demonstrated immunohistochemically by LSAB+ system (DAKO) and seven conventional myoepithelial markers (GFAP, aktin S, calponin, cytokeratin 14, p63, CD10 and P-cadherin) were used. Oncogene p53 and Her2/neu were also detected. RESULTS: Matrix-producing carcinoma is an extremely rare type of metaplastic carcinoma of the breast, where high-grade epithelial component continually merges with heterologous mesenchymal chondroid component without overt spindle cell sarcomatoid pattern in between. There were all women at the age of 32 to 86-years (average 54 years, median 52 years) and the maximum tumor diameter ranged from 18 to 60 mm (average 32 mm). The axillary LN was positive in six cases in the time of diagnosis. The follow up available in 9 women ranged from three months to ten years (average 24 months); dissemination of the disease was observed in three cases; 2 of these patients died of disease after three and ten years, respectively. The heterologous mesenchymal chondroid component was produced in two different ways; one displayed typical structure of low-grade hyaline cartilage, in the second one the epithelial tumorous cells were embedded in the homogenous eosinophilic extracellular matrix giving appearance of chondroid aura. Metaplastic component constituted 5-75% of the tumor volume. Immunohistochemical evidence of myoepithelial differentiation in all neoplasms was demonstrated, with at least two conventional myoepithelial markers (actin S, calponin, GFAP, CK14, CD10, p63 and P-cadherin) being positive in every case. Expression of p53 was identified in six cases, all tumors were Her2/neu negative. Histologically the metastases were formed either by carcinoma cells only, or more frequently, they replicated the structure of primary lesion. CONCLUSION: As a rare entity, matrix-producing carcinoma of breast displaying myoepithelial phenotype, deserves separate position in tumor classification. It differs from conventional myoepithelial carcinoma and from heterologous metaplastic carcinoma, where the matrix emanate from undifferentiated sarcomatous tissue, but precise histogenesis in not clear yet. This is a very aggressive lesion and our findings show that previous reports of indolent behaviour were preliminary. Spectrum of differential diagnosis, namely benign mixed tumor, phylloid tumor, primary breast sarcoma and colloid carcinoma warrant clear knowledge about this unique entity.

Adult↗
PubMed2004

[Secondary malignant tumors of the mammary gland].

The authors present three case-reviews of rare metastatic affections of the female mammary gland by the following disorders--a malignant lymphoma, a Grawitz carcinoma of the kidney and by a malignant melanoma. Histological examinations of the tumors and restrospective examinations of the respective patients anamneses resulted in the primary focus determination in two cases.

Adult↗
PubMed2004

[Spontaneous necrosis of parathyroid adenoma].

The authors describe a female patient with large parathyroid gland adenoma presenting with clinical symptoms of primary hyperparathyroidism and severe hypercalcaemia. Before planned surgical treatment the patient spontaneously developed clinical symptoms of tetany. Hypocalcaemia was confirmed by laboratory test. The reason turned out to be spontaneous necrosis of the parathyroid adenoma, resulting in remission of hyperparathyroidism. After stabilization of calcium levels, the necrotic adenoma was removed and histopathological examination revealed necrotic adenoma with only occasional vital adenoma cells. During the next follow-up the patient was without any subjective complaints and her state was stable. This phenomenon, yet described in the literature in past, belongs to unusual findings.

Adenoma↗
PubMed2003

Sinonasal tubulopapillary low-grade adenocarcinoma. Histopathological, immunohistochemical and ultrastructural features of poorly recognised entity.

We present the clinicopathological, histological and immunohistochemical findings of six cases of primary tubulopapillary low-grade adenocarcinoma of the sinonasal tract with ultrastructural examination in one case. Due to its unique features, we believe that primary tubulopapillary low-grade adenocarcinoma of the sinonasal tract represents a tumour entity different from any tumours generally recognised in the sinonasal region. Our cases had an equal sex incidence, with an age range of 44-76 years. The tumour has a tendency to recur, but none of our six patients developed metastases. We feel that it is important to separate this tumour entity from other types of sinonasal adenocarcinomas that exhibit a papillary growth pattern, as they frequently pursue a much more aggressive clinical course than the tumours in this study.

Adenocarcinoma↗
PubMed2003

Dipeptidyl peptidase IV expression in thyroid cytology: retrospective histologically confirmed study.

Fine needle aspiration cytology (FNAC) of the thyroid gland is a well-established method. However, it has inherent limitations, especially in the diagnosis of follicular and oncocytic tumours and in distinguishing between nuclear atypia in colloid goitre with regressive changes and cystic papillary carcinoma. The aim of our study was to evaluate dipeptidyl peptidase IV (DPP IV) as a marker of malignancy in FNAC. We tested 254 thyroid specimens (intraoperative imprint smears) for DPP IV. The sensitivity was 71%, the specificity was 96%, and the diagnostic accuracy was 93%, respectively, with a threshold of 50% of positive cells. To the best of our knowledge it is the largest histologically confirmed study reported in the literature. We suggest the assessment of DPP IV as an adjunct diagnostic marker of malignancy in thyroid specimens suspicious of papillary carcinoma. However, the value of the marker in follicular lesions is very limited.

Adolescent↗
PubMed2003

[Dipeptidyl peptidase IV (DPP IV, CD 26): a tumor marker in cytologic and histopathologic diagnosis of lesions of the thyroid gland].

BACKGROUND: Morphological diagnostics of thyroid gland tumours faces certain differential diagnostic problems. Extensive histological examination of the entire tumour is required for the final diagnosis of follicular and oncocytic tumours. Thus, assessment of reliable definitive cytological and/or intraoperative histological diagnosis is not possible. No marker of malignancy has been so far generally accepted in the thyroid tumour diagnosis. The aim of the study was to evaluate membrane protease dipeptidyl peptidase IV (DPP IV) in the differential diagnosis of thyroid tumours. METHODS AND RESULTS: DPP IV was assessed cytochemically in 254 smears, histochemically in 314 cryostat sections, and immunohistochemically in 309 paraffin-embedded sections obtained from the group of 336 patients. There were 283 females and 53 males with the mean age of 48 years (range 15-80 years) in this series. Sensitivity of cytochemical detection was 71%, specificity was 96%, and diagnostic accuracy was 93% using the 50% threshold. Histochemically, sensitivity was 71%, specificity was 93%, and diagnostic accuracy was 90% using the 5% threshold. Using the immunohistochemical assessment, sensitivity was 68%, specificity was 94%, and diagnostic accuracy was 91% using the 5% threshold. CONCLUSIONS: According to our results, DPP IV can be used as a marker of malignancy in well-differentiated carcinomas of follicular cell origin, namely in papillary carcinoma. However, it is less reliable in follicular and oncocytic carcinomas.

Adolescent↗