A Case Report of Management of Medulloepithelioma of the Ciliary Body and Iris without Recurrence over an Observation Period of Twenty Years.

Intraocular medulloepithelioma is a rare embryonal tumor that is believed to arise from the epithelium of the medullary tube. We report a 37-year-old female with medulloepithelioma presented at the age of 17 with a one-month history of left-sided visual deterioration and visible iris lesion. Birth history and medical and family histories were insignificant. The left eye revealed a vascularized iris mass. Further examination revealed a grey-white ciliary body mass and a subluxated lens with best-corrected visual acuity (BCVA) of 0.5. The patient underwent partial lamellar corneo-sclerouvectomy. The histological and electron microscopic findings revealed medulloepithelioma. To reduce the risk of recurrence of the probable malignant tumor, she was treated with Ruthenium plaque therapy about six weeks following surgical removal. Pars plana vitrectomy and lensectomy with laser photocoagulation of the peripheral retina were performed at the removal of the brachytherapy plaque. She regained her BCVA of 1.0 in her left eye 3.5 months following pars plana vitrectomy. At 20-year follow-up, no tumor recurrence was seen and her BCVA remained 1.0.

IgG4-Related Nasal Pseudotumor.

IgG4-related disease is recognized as one form of autoimmune pancreatitis. During the last ten years, it has also been described in several other organs. We present two patients with lesions showing a histological picture of fibrosis and lymphoplasmacytic infiltrations with abundant IgG4 positive plasma cells at hitherto unreported symmetrical nasal locations. The symmetrical complex consisted of one central lesion in the anterior nasal septum and the two others in each of the lateral nasal walls. The lesions extended from the anterior part of the inferior concha into the vestibulum and caused severe nasal obstruction.

Fibro-hyaline extensions from the bony nasal aperture, causing nasal obstruction.

OBJECTIVE: We report a rare case of fibro-hyaline anterior extensions of the bony nasal pyramid. METHOD: The clinical, radiological, intra-operative and histological findings are presented. RESULTS: A 34-year-old man presented with bilateral nasal obstruction due to enlarged lateral walls of the nasal vestibule. Radiology showed normal bony structures. Surgery revealed three histologically identical, non-malignant, fibrous masses, one in the nasal septum and one in each of the vestibular walls. The latter were attached to the bony pyramid, protruding anteriorly and converging medially. CONCLUSION: The location and symmetry of the fibro-hyaline projections indicated that they constituted a malformation mimicking congenital bony nasal pyriform aperture stenosis. Histological analysis showed that the masses were not neoplastic.

Severe hypothyroidism due to atrophic thyroiditis from second year of life influenced developmental outcome.

UNLABELLED: From the second year of life a girl showed an insidious development of clinical hypothyroidism due to a non-goitrous lymphocytic thyroiditis without traceable circulating levels of thyroid antibodies measured by routine immunoassays. The diagnostic delay of this rare variant of atrophic thyroiditis caused persistent neuropsychological deficits. CONCLUSION: Her difficulties with speed of processing and working memory in particular could suggest a frontal deficit, possibly in the dorsolateral prefrontal circuit. This contrasts with findings in congenital hypothyroidism, suggesting a relatively preserved frontal function, and could illustrate different neuropsychological deficits of hypothyroidism at different ages in early childhood.

Immunocytochemical expression of E-cadherin on fine-needle aspirates from breast carcinomas correlate with the cell dissociation pattern seen on smears.

Altered E-cadherin expression has been suggested to be of prognostic significance in breast cancers and to correlate with tumor subtype and grade. A dysfunctional, intercellular adhesion system may be responsible for the tumor cell dissociation pattern seen on fine-needle aspirate cytology (FNAC). The aim of our study was to determine E-cadherin expression on direct FNAC smears from breast carcinomas and compare the results with the dyscohesion grade of the tumor cells and the cytological grading. The material consisted of FNAs from 56 breast carcinomas. The degree of cellular cohesion was estimated semiquantitatively. Full expression of E-cadherin was defined as a complete and strong membrane staining of virtually all tumor cells. All nonductal as well as 85% of the invasive ductal carcinomas revealed reduced expression or negativity for E-cadherin. In all, 25% of carcinomas with dyscohesion Grade 1 (mainly in groups) revealed full expression of E-cadherin, in contrast to 12.5% of tumors with dyscohesion Grade 3 (mainly dispersed cells). Nuclear positivity was seen in 21% of the tumors (12 cases) and seven of these were G3 ductal carcinomas. In conclusion, E-cadherin expression correlated with the cell dissociation pattern seen on direct smears from FNAC of breast carcinomas, but is only one of several markers that modulate this pattern. High-grade carcinomas rarely revealed full expression and had a high incidence of aberrant nuclear localization of E-cadherin.

Ductal carcinoma in situ of the breast--a review of diagnosis, treatment and outcome in a hospital-based Norwegian series.

Between 1980 and 1994, 71 women with histologically proven ductal carcinoma in situ (DCIS) were diagnosed at Ullevål Hospital; bilateral tumours were found in two patients. Surgical treatment was mastectomy (42 lesions) or local excision (31 lesions). Median follow-up time was 7.2 years. Ten patients experienced a local recurrence, seven of which were invasive carcinomas. The actuarial 5-year local recurrence rate was 22% after local excision. A multivariate analysis found that tumour size was the only factor that predicted local recurrence after local excision. An analysis of relative survival in a nation-wide material of 832 DCIS patients in the period 1980 to 1994 demonstrates that relative survival after a DCIS diagnosis is almost 100%, irrespective of surgical treatment of the initial lesion.

Estimating loss of the wild-type p53 gene by in situ hybridization of fine-needle aspirates from breast carcinomas.

TP53 mutations have been found in 16-64% of breast carcinomas. The aim of our study was to investigate loss of the wild-type TP53 gene by in situ hybridization (ISH) of fine-needle aspirates (FNAC) from breast carcinomas. The material consisted of FNAC from 33 breast carcinomas, with histologic specimens from 19 of the cases. Routine diagnostic smears were used for cytologic grading. ISH of the wild-type TP53 gene and chromosome 17 was performed on air-dried smears. Hybridization signals were counted in at least 100 nuclei, and the percentage for each signal number was calculated. FNAC from four fibroadenomas as well as cell preparations from five lymphocyte cultures were used as normal/benign controls. Cutoff for defining loss of p53 gene signals was set at 20% of cells with zero and one gene signal only. Concomitant p53 protein expression was determined on 20 histologic sections and eight additionally available air-dried smears. Loss of wild-type p53 gene was found in 20 carcinomas (60.6%). The rate of signal loss varied from 0.4% to 75.3% of the cells. All tumors with aneusomy of chromosome 17 revealed loss of p53 gene signals, as did 42% of the disome cases. Loss of wild-type p53 gene was present in 10 of 16 grade 1 cancers (62.5%), eight of 13 grade 2 tumors (61.5%), and two of four grade 3 cases. Signal loss did not correlate with p53 protein expression. In conclusion, subpopulations with loss of the wild-type p53 gene are a common finding in breast carcinomas; they are detected in more than 60% of the tumors, including grade 1 cancers.

Numerical abnormalities of chromosome 7 in interphase cell nuclei of breast carcinoma have no impact on immunohistochemically determined EGFR status.

AIM OF STUDY: To investigate the relationship between epidermal growth factor receptor (EGFR) status and numerical aberrations of chromosome 7 in breast carcinomas. DESIGN: In situ hybridization (ISH) of interphase cell nuclei on air-dried fine-needle aspirates (FNAC) from 33 breast carcinomas was evaluated for numerical abnormalities in chromosome 6, 7, 12 and 17. Immunohistochemical staining of EGFR was performed on corresponding histological specimens. RESULTS: 78% of the tumours were aneuploid by ISH. Aneusomy of chromosome 7 was found in 18 cases (60%). EGFR overexpression was observed in 30% of the carcinomas, and seven of nine were aneuploid by ISH. The same percentage of chromosome 7 aneusomy was found in both EGFR-positive and -negative cases. Five of seven EGFR-positive tumours revealed aneusomy of chromosome 7. CONCLUSION: Numerical gain of chromosome 7 is a common finding, occurring in about 60% of breast carcinomas. Most EGFR-positive tumours are aneuploid and show numerical gain of chromosome 7, but abnormal numbers of chromosome 7 have no impact on the EGFR status.

Numerical aberrations of chromosome 17 in interphase cell nuclei of breast carcinoma cells: lack of correlation with abnormal expression of p53, neu and nm23 protein.

The genes for p53, neu (c-erbB-2) and nm23 are all located on chromosome 17. Abnormal expression of their protein products is an important prognostic parameter. The aim of this study was to investigate if numerical aberrations of chromosome 17 are reflected in the expression of these markers. The immunohistochemical expression was analysed on histological specimens from 33 breast carcinomas. In situ hybridization (ISH) was performed on interphase cell nuclei in air-dried fine-needle aspirates from the same cases using a digoxigenin-labelled alpha-satellite probe for chromosome 17. ISH for chromosome 6, 7 and 12 was used additionally to give an estimate of ploidy. Of the carcinomas 76% were aneuploid, and numerical abnormalities of chromosome 17 were found in 34%. Abnormal p53 protein was expressed in 15% (five cases). All of these were aneuploid, but only one of them revealed aneusomy of chromosome 17. Neu overexpression was found in 18% of the tumours (six cases). Five of these were aneuploid, whereas two were aneusome for chromosome 17. Four cancers showed full (normal) expression of nm23 protein, whereas 29 had reduced expression. Reduced expression was found in 23 of 25 aneuploid tumours. Numerical aberrations of chromosome 17 were found equally in carcinomas with reduced and full nm23 protein expression. Abnormal numbers of chromosome 17 seem only to have a minor impact on these markers and are not reflected significantly in their expression.

Assessing estrogen and progesterone receptor status in fine needle aspirates from breast carcinomas. Results on six years of material and correlation with biochemical assay.

OBJECTIVE: To evaluate the usefulness of immunocytochemical staining on breast fine needle aspiration (FNA) cytology as a routine procedure for determination of estrogen (ER) and progesterone (PR) receptor status. STUDY DESIGN: FNA cytology material from 864 patients was immunostained for ER and PR using Abbott ER/PR-ICA kits. Percentage of stained nuclei, staining intensity and staining pattern was evaluated. In 259 cases comparison with biochemical assay was possible. RESULTS: Of the cases, 75.6% were ER positive and 65% PR positive, and 61.6% were both ER and PR positive. Approximately 4% of the smears were inconclusive because of scant cellularity. Concordance between the immunostaining and biochemical method was 84% for ER and 71% for PR. Kappa values were 0.61 and 0.4, respectively. Major discrepancies were found in 7.7% of the specimens. CONCLUSION: Inconclusive smears due to scant cellularity is a minor problem. Technical difficulties are few, and false negative and positive staining is rarely seen. The results are comparable to those from the biochemical method, and immunostaining of ER/PR on breast cancer FNA cytology smears is useful as a routine procedure for receptor determination.

nm23 protein expression in fine-needle aspirates from breast carcinoma: inverse correlation with cytologic grading, lymph node status, and ploidy.

BACKGROUND: nm23 has been recognized as a potential suppressor gene of metastasis. Reduced nm23 expression in breast carcinoma has been found to correlate with axillary lymph node metastases, high grade tumors, and shorter survival. METHODS: nm23 protein was detected immunocytochemically using an avidin-biotin complex technique. When a few cells showed negative or marked reduced cytoplasmic staining, expression was considered reduced. Cytologic grading was performed on routine fine-needle aspirates (FNAC). Ploidy was determined by in situ hybridization of chromosomes 6, 7, 12, and 17 on interphase cell nuclei from FNAC. When all four chromosomes revealed a disome pattern, the tumor was classified as diploid; mixed disome/aneusome carcinomas as well as those with aneusomy in all four chromosomes were considered aneuploid. RESULTS: Approximately 83% of specimens had reduced expression of nm23 protein. Forty-four of 45 lymph node positive tumors as well as 27 of 29 aneuploid tumors, were found to have reduced nm23 expression. Likewise, 49 of 57 Grade 2 (G2) carcinomas (86%) and 20 of 22 Grade 3 (G3) carcinomas (91%) showed reduced nm23 expression. Twenty-nine of 39 Grade 1 (G1) carcinomas (74%) had reduced nm23 expression. None of the G1 or G2 tumors with full nm23 expression had axillary lymph node metastases. CONCLUSIONS: nm23 protein showed a significant inverse correlation with lymph node status, cytologic grading, and ploidy. The nm23 protein antibody may have potential as a preoperative marker in identifying subgroups of patients who either may have a worse prognosis than expected (e.g., those with G1 carcinomas with reduced nm23 expression) or who may be able to avoid axillary lymph node dissection (e.g., those with G1 carcinoma with full nm23 protein expression). Cancer

Ploidy analysis by in situ hybridization of interphase cell nuclei in fine-needle aspirates from breast carcinomas: correlation with cytologic grading.

Fine-needle aspirates from 54 breast cancer patients were investigated for numeric aberrations in chromosomes 6, 7, 12, and 17 by in situ hybridization (ISH) of interphase cell nuclei. Ploidy findings were compared with cytologic grading of tumors. Aneuploidy was found in 73% of cases. Chromosomes 6 and 7 showed numeric abnormalities in 63% and 62% of cases, respectively, whereas chromosome 17 retained a disome pattern in 2/3 of the tumors. Thirteen cancers (28% of 47 with four analyzed probes) had a normal signal number in all four chromosomes. In 17 (36%), all four had signal gain. Another 17 showed a mixed disome/aneusome pattern. They presented a continuum of increasing numeric abnormalities, 82% disomy for chromosome 17, and 13 of them were grade 2, indicating intermediate biologic properties. Correlation between grading and ploidy was good, with 10 of 11 grade 1 carcinomas showing diploidy, whereas 33 of 36 grade 2 and 3 tumors had numeric aberrations.

In situ hybridization of chromosome 6 on fine-needle aspirates from breast carcinomas: comparison of numerical abnormalities and ER/PgR status and staining pattern.

The estrogen receptor (ER) gene is located on chromosome 6. The aim of our study was to investigate whether numerical chromosomal aberrations were reflected in estrogen/progesterone receptor (PgR) status and staining pattern. Fine-needle aspirates from 51 breast carcinomas were investigated immunocytochemically for ER/PgR and by in situ hybridization technique using digoxigenin-labeled alpha-satellite probe for chromosome 6. Cases with > or = 70% two-signal nuclei were regarded as disome; the remaining tumors showed aneusomy with a variable number of signals. Aneusomy was found in 32 tumors (63%), whereas 19 (37%) had a normal number of chromosome 6. Chromosomal gain occurred in all aneusome cases except one. ER- and/or PgR-positive tumors had an equal distribution of disomy and aneusomy. Variable ER staining pattern or ER and/or PgR negativity was associated with numerical aberrations in chromosome 6 in 76% of the tumors. Cancers with uniform ER staining pattern all had normal chromosome number.

Cytologic features of papillary-cystic variant of acinic-cell adenocarcinoma: a case report.

A case of papillary-cystic variant of acinic-cell adenocarcinoma is described. The cytologic findings differed significantly from the classic features of this tumor with smears showing large monolayer sheets and small papillary groups, no acinic structures or naked tumor cell nuclei, sparse cell dissociation and many vacuolated cells.

[The Pipelle. A good instrument for histological endometrial diagnosis]. / Pipellen. Et godt instrument til histologisk endometriediagnostikk.

The pipelle is a device for collecting tissue from the uterine cavity, thereby also allowing morphological assessment of the endometrium, such as cyclus stages and hyperplasias. The biopsy is taken without use of anaesthetics and is a rapid and simple procedure. We have compared the Pipelle with the Endocyt device in 50 women and conclude that the pipelle method is just as simple to perform as the endocyt method and is tolerated just as well. The pipelle method represents an alternative to diagnostic curettage and deserves to be used more extensively.

Carcinoma of the urachus. A case report and review of the literature.

A 63-year-old man presented with haematuria and suprapubic pain. After transurethral resection of the prostate a tumour was seen in the bladder dome at cystoscopy. Biopsy revealed an adenocarcinoma. Based on intraoperative and histological examination of the partial cystectomy specimen, the tumour was judged to be an urachus carcinoma. Four years after diagnosis the patient has no evidence of tumour. While partial cystectomy is the most frequent treatment, a radical total cystectomy is advocated in poorly differentiated tumours.

Metaplastic breast carcinoma. A diagnostic problem in fine needle aspiration biopsy.

Fine needle aspiration (FNA) was used to evaluate a breast lump and enlarged lymph nodes in a woman with a prior history of lumpectomy on the contralateral breast and a recent negative mammogram. The FNA cytologic findings included markedly atypical fibroblast-like cells lying singly and in groups in a myxoid background, highly atypical multinucleated cells and numerous mitoses, features that were interpreted as a high-grade malignant mesenchymal tumor. The carcinomatous cells in the aspirates were only fully appreciated after histologic examination of the mastectomy specimen and the axillary lymph node metastases showed a dual differentiation consisting of both epithelial and mesenchymal components, leading to a final diagnosis of metaplastic carcinoma. Electron microscopic study of histologic samples confirmed the dual differentiation, and both keratin and vimentin intermediate filaments were recognized by immunohistochemical staining. The regional lymph node metastases were predominantly sarcomatous, which apparently is a rare event. The entity of metaplastic carcinoma is discussed in relation to other mixed epithelial-mesenchymal lesions of the breast, and the previous literature on this entity is briefly reviewed.