Microheterogeneity of alpha-fetoprotein (AFP) present in the sera of 76 patients was studied by lectin affino-immunoelectrophoresis. Seventeen patients had benign liver disorders and the remaining 59 patients were treated for primary or secondary liver cancer or yolk sac tumour. By means of Con A, AFP was divided into two variants, while lentil lectin (LCA) made it possible to separate AFP in three variants. In some patients the relative concentrations of Con A and LCA AFP variants were similar; these patients were believed to produce AFP of the same 'profile'. Fourteen AFP profiles were observed by estimation of the area enclosed by precipitates corresponding to respective AFP variants. It was also possible to estimate the AFP profile on the basis of a simple visual analysis of the electrophoretic plates. The obtained results indicate that the AFP profiles of patients with cancer were variable. In spite of variations of the AFP profile in cancer patients, in most cases it was possible to differentiate primary liver cancer from yolk sac tumour and from liver metastases of cancer. In addition, in two-thirds of hepatoma patients the AFP profile was different from the profile observed in patients with benign liver disorders.

In an iodine deficient area, a high incidence of hot thyroid nodules was observed in children after the introduction of iodine supplementation in 1997. Thirty-one children (28 girls, 3 boys) were identified with hot nodules between the years 1996-2000 (3 patients in 1996, 4 in 1997, 10 in 1998, 7 in 1999, and 7 in 2000). The incidence ratio of hot nodules in this study population increased significantly from 0.23 in 1996 to 0.80 in 1998. In 17 children, radionuclide uptake was confined exclusively to areas corresponding to the nodules. Cancer was detected in one child in post-operative histological examination. In the other 14 children, the predominant uptake was in nodules, but it was also registered within extranodular tissue. In the latter group, eight tumors were eventually diagnosed as cancer and six as benign tumors. The majority of tumors in the entire group was located in the right lobe (19/31) and was accompanied by reduced TSH levels (23/31), but only 14 of the 31 patients had signs of hyperthyroidism. The years 1996-2000, in which the increase in the incidence of "hot" nodules in children with nodular goiter was observed, correspond to a period of enforced salt iodinization. The existence of cancer within hot nodules is rare, ranging from 2-5% of all nodules. By contrast, the risk of cancer in hot nodules in the cohort of this study was significantly higher (9/31; 29.0%), especially in cases of hot nodules with a rudimentary radionuclide uptake in the extranodular area. We conclude that, in geographical regions affected with iodine deficiency, the therapeutic protocol for children with hot nodules should be based primarily on surgery rather than on radioiodine.

Thyroid carcinoma appears to be an ongoing and increasing problem in the children and adolescents of our region, and it is developing more intensively when compared, both to other parts of Poland and to previous statistics (2000 vs. 1985; P<0.002). Iodine deficiency and radiation resulting from the Chernobyl disaster might be important risk factors in the development of thyroid carcinoma in the young population analysed in our region in the period since 1994. The high percentage of follicular carcinoma and follicular adenoma with an undetermined prognosis (19 out of 46) indicates that the long-term iodine deficiency in our region may be more significant in the pathogenesis of malignant transformation than has previously been postulated.

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staining of renal tubules in normal kidney. APMIS 105: 31-34, 1997. Lectins are glycoproteins able to bind carbohydrate structures specifically. In this study we applied six different lectins on normal renal tissue to investigate their specificity for different segments of the renal tubular system. The following lectins were used: jacalin, peanut agglutinin (PNA), wheat germ agglutinin (WGA), phytohemagglutinin E (PHA-E), concanavalin A (Con A), and Dolichos biflorus agglutinin (DBA). Particular attention was paid to jacalin lectin as its staining properties respecting the renal tubular system were not known. We showed that jacalin lectin strongly stains the luminal border of distal tubules, as well as single cells of the collecting tubules. As regards the other five lectins, PNA stained distal tubules, WGA the whole nephron, PHA-E proximal tubules, and Con A and DBA a few cells of the loop of Henle.

Breast cancer is a rare disease in men. Germ‐line mutations in BRCA2 and androgen receptor (AR) genes are thought to be responsible for a proportion of male breast cancer cases. The present study was performed on a series of 37 consenting patients not selected for family history of breast/ovarian cancer. The entire coding region of the BRCA2 gene and two exons of the AR gene were analyzed for germ‐line mutations to evaluate the association between BRCA2 and AR genes and male breast cancer in Poland. We identified four frameshift mutations (11%) in exons 10, 11, 17 and 18, two of them were novel: 6495del3insC and 8457insA. Three missense unclassified variants (8%) of the BRCA2 gene were also identified. The frequencies of missense alterations were examined in a set of 200 chromosomes. No alteration of the AR gene was found. We did not observe much difference in clinicopathological features between carriers and non‐carriers of BRCA2 mutations. Five of 37 patients (14%) had a family history of breast cancer, in one first‐ or second‐degree relative, among the latter was one mutation carrier. The results of this study suggest that germ‐line BRCA2 mutations account for rather small proportion of male breast cancer in Poland. © 2001 Wiley‐Liss, Inc.

Breast cancer occurs rarely in men and risk factors for the disease include germline mutations of the BRCA2 gene. High frequency of allelic loss at the BRCA2 locus has been reported in sporadic breast tumors, but somatic mutations of BRCA2 are very rare. Here we report the first case of somatic BRCA2 mutation in male breast cancer with demonstrated loss of heterozygosity. We analyzed a series of 27 archival samples from male breast cancer patients for BRCA2 mutations and loss of heterozygosity at BRCA2 locus. The mutation analysis of BRCA2 gene was performed using SSCA-HA and sequencing methods. PCR was used to detect LOH at 3 highly polymorphic microsatellite markers spanning BRCA2 region on 13q by comparing the allelic pattern in matched tumor and blood DNA samples. In this study LOH at the BRCA2 locus was observed in 82.6% of informative cases, confirming previous observations on high frequency of LOH affecting the BRCA2 region in male breast cancer. We identified 5 somatic BRCA2 mutations in a set of 23 sporadic male breast cancers (21%). Two silent and 1 missense alterations were novel BRCA2 variants. Here we also report first somatic frameshift BRCA2 mutation in male breast cancer 8138del5. In 3 tumors with somatic BRCA2 alterations, 1 missense, 1 silent and frameshift LOH at chromosome 13q12-13 were detected and losses involved a wild-type allele of BRCA2 gene. © 2002 Wiley-Liss, Inc. Key words: male breast cancer; BRCA2; germline mutations; somatic mutations; loss of heterozygosity Carcinoma of the male breast is an uncommon disease, accounting for less than 1% of all malignancies detected in men. The most important risk factor for the disease in both male and female breast cancer seems to be inherited predisposition. Two genes, BRCA1 and BRCA2 account for the disease in large majority of breast cancer families. 1 Unlike BRCA1 mutations, germline mutations of BRCA2 are involved in the development of a considerable number of male breast cancer. [2][3][4][5] LOH on chromosome 13q12-13 was reported in 20-60% of sporadic breast tumors. 6 -8 Such high frequency of allelic loss at BRCA2 locus points to an important role of this gene in the development and progression of sporadic breast cancer. However, in sporadic breast cancers somatic mutations of BRCA2, like BRCA1, are very rare. Here we report the first case of somatic BRCA2 mutation in male breast cancer with demonstrated loss of heterozygosity.We analyzed a series of 27 archival samples from male breast cancer patients for BRCA2 mutations and loss of heterozygosity at BRCA2 locus. Four patients were previously identified as BRCA2 mutation carriers (4T, 8T, 37T and 38T), whereas the other 23 tumors studied were considered sporadic since no germline BRCA2 mutations were found in these male breast cancer patients. 9 Family history data were obtained from each patient. Two mutation carriers (4T and 38T) and 2 patients with sporadic breast cancer (13T and 22T) had a family history of breast cancer in one first-(38T, 13T, 22T) or second-degree (4T) relative...

We present the interesting case of a 38-year-old man with a primary malignant tumor of the right testis that metachronously metastasized to the urinary bladder and the stomach. Histologically, the testicular tumor was a mixed germ cell tumor composed of teratoma and embryonal carcinoma, but it also contained a sarcoma component of somatic type malignancy. Metastases showed rhabdomyoblastic differentiation histologically identical to the sarcoma component of the testicular tumor that was diagnosed as rhabdomyosarcoma. By applying fluorescence in situ hybridization (FISH) to the cytogenetic examination of cells taken from the periventricular lymph node metastases, we demonstrated a structural chromosomal aberration characteristic of testicular neoplasms, i.e. the presence of isochromosome 12p (i(12p)). Additionally, the diagnosis was supported by immunohistochemistry.