Topoisomerase IIalpha expression in ductal carcinoma in situ of the breast: a preliminary study

Ductal carcinoma in situ (DCIS) of the breast, a precursor lesion of invasive breast cancer, is a heterogeneous disease in terms of histomorphologic features and biologic behavior. Our aim was to assess the proliferative activity, expressed as topoisomerase IIalpha (Topo IIalpha) immunoreactivity and c-erbB-2 expression in relation to morphologic features and architectural pattern of DCIS. The study included 26 DCIS, which were reclassified according to the recommendations of Consensus Conference. Topo-IIalpha and c-erbB-2 immunoreactivity were detected on paraffin sections. Topo IIalpha was consistently negative in normal ductal epithelium. Topo IIalpha-labeling index (Topo IIalpha-LI) was 0.7+/-0.6% for grade I, 4.3+/-3.9% for grade II, and 13.4+/-8.9 for grade III lesions (P<.01). For mixed nuclear grade DCIS, Topo IIalpha-LI was 6.8+/-4.8. There was no difference in Topo IIalpha-LI between different architectural patterns in low- and intermediate-grade lesions. In high nuclear grade DCIS, there was a progressive increase in Topo IIalpha-LI from solid toward cribriform and comedo-type DCIS. Positive c-erbB-2 immunoreactivity was found in 46% of DCIS, being highest in DCIS with high nuclear grade (78%) and in lesions with extensive necrosis. Topo IIalpha-LI was significantly higher in c-erbB-2-positive lesions (Topo IIalpha-LI- 12.4+/-8.5) as compared with negative lesions (Topo IIalpha-LI- 3.9+/-4.5, P<. 0001). Overexpression of c-erbB-2 and Topo IIalpha is associated with poorly differentiated lesions. Proliferative activity in individual ducts of DCIS depended primarily on the nuclear grade and was independent of architectural patterns of individual ducts in architecturally heterogeneous lesions.     

Iris (Lisch) nodules in neurofibromatosis

A group of 30 patients ranging from 4 to 56 years of age with the peripheral form of neurofibromatosis were evaluated for the presence of iris (Lisch) nodules. These nodules were observed in 73% of our cases and their presence was directly related to the severity of the skin manifestations of the disease. It is concluded that Lisch nodules are pathognomonic for neurofibromatosis and thus, their presence should be looked for in all suspected cases.     

A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment

Metabolic Brain Disease - Isolated defects in the mitochondrial respiratory chain complex II (CII; succinate-ubiquinone oxidoreductase) are extremely rare and mainly result from bi-allelic...     

Changes in weight and BMI following the diagnosis of type 1 diabetes in children and adolescents

The aim of this study was to study weight and body mass index (BMI) before, at, and after diagnosis of type 1 diabetes (T1D) and to identify factors associated with weight gain. Studied retrospectively were 209 children <18 years with T1D followed for 6 years. Data collected included clinical and laboratory data before diagnosis, at diagnosis, and during 6 years of follow-up. Anthropometric parameters of patients were compared along follow-up and with those of their parents and siblings. Mean BMI–standard deviation score (SDS) was below average at diagnosis (?0.66 ± 1.27), had increased to 0.37 ± 0.93 at 3 months, and decreased to a nadir at 6 months in females and 12 months in males; between 1 and 3 years, there was a slight increase and between 3 and 6 years a further increase only in the females. BMI–SDS at 6 years was significantly higher than pre-diabetes BMI–SDS (0.35 ± 0.83 vs. ?0.04 ± 1.23, p < 0.001). Patients’ BMI–SDS at 6 years was similar to that of their parents and siblings, was higher in the females (0.53 ± 0.74 vs. 0.27 ± 0.82, p = 0.02) and in those keeping diabetes a secret (0.66 ± 0.82 vs. 0.33 ± 0.78, p = 0.027), and was not associated with age or pubertal stage at diagnosis, ethnicity, or metabolic control. A longer duration of insulin pump therapy was associated with a lower BMI–SDS (r = ?0.2375, p < 0.025). BMI–SDS increased during the 6 years following diagnosis of T1D in pediatric patients, especially in the females, but remained in the normal range and was similar to that of other family members.     

Pathological characteristics of ovarian cancer occurring after hysterectomy

OBJECTIVE: The aim of the current study was to examine the pathological characteristics of ovarian cancer occurring in women with previous hysterectomy. METHODS: Newly diagnosed cases of ovarian primary epithelial or primary peritoneal cancer, operated on in our department between January 2000 and December 2002, were included in this retrospective study. The patients were divided into two groups, group I included eight patients with ovarian cancer and previous hysterectomy, and group II comprised 70 patients with ovarian or primary peritoneal cancer, but without previous hysterectomy. RESULTS: There was no significant difference between the eight patients with ovarian cancer and previous hysterectomy and the 70 patients without previous hysterectomy considering the patients' characteristics. Conversely, there was a difference between the two study groups regarding the histology of the tumor, its grade and the stage of the disease. All patients with ovarian cancer and previous hysterectomy had poorly differentiated mixed epithelial or undifferentiated tumors. Nevertheless, only 25% of these patients were diagnosed in Stage IIIC. CONCLUSION: It seems that besides reducing the risk of further ovarian cancer, hysterectomy also causes a change in the main histological sub-group of ovarian cancer, that develops in patients with previous hysterectomy. The greatest protective effect was observed for serous ovarian tumors.     

Pathological findings in early-stage endometrial cancer

OBJECTIVE: The aim of this study was to assess the pathological characteristics of early-stage endometrial cancer, with regard to endometrioid versus serous papillary adenocarcinoma. METHODS: Sixty-six cases of early-stage endometrial carcinoma were classified into two groups: group I--36 cases of endometrioid endometrial cancer, staged IA-IB and graded G1-G2; group II--30 cases of Stage I serous papillary endometrial cancer. The pathological characteristics compared between the two groups included features such as tumor location in the uterine cavity, tumor focality, lymphovascular invasion, as well as the status of the uninvolved endometrium, adjacent to the tumor. Patient clinical characteristics were obtained from the medical records. RESULTS: Significantly more patients with endometrioid endometrial cancer were premenopausal (p < 0.0001), obese (p < 0.02), had hypertension (p < 0.00001) and familial cancer (p < 0.0001). On the other hand, significantly more patients with serous papillary cancer had another primary malignancy (p < 0.001). Considering the pathological characteristics, 75% of endometrioid as compared with 6.7% of serous papillary cancer cases were found in the upper uterine segment only (p < 0.0001). Multifocality was observed in 16.7% of endometrioid as compared with 100% of serous papillary cancer cases (p < 0.0001). Lymphovascular space invasion was absent in all cases of endometrioid cancer, while present in 90% of serous papillary cancer cases (p < 0.0001). Seventy-five percent of endometrioid and 100% of serous papillary cancer cases were associated with an atrophic endometrium. CONCLUSION: The clinical and pathological features of early-stage endometrial cancer differ according to the histological type of the cancer. The majority of endometrioid cancers are probably associated with an atrophic or normally cycling endometrium, and not with endometrial hyperplasia.     

Breast hamartoma: fine-needle aspiration cytologic finding

BACKGROUND: Breast hamartoma is an unusual, well-circumscribed, tumor-like mass entering into the differential diagnosis of benign breast disease. To the authors' knowledge, the cytology of these lesions has not been well described. Although fine-needle aspiration is a well established procedure for the detection of breast carcinoma, its utility in classifying benign breast disease is less clear. METHODS: Fine-needle aspirates from eight patients with histologically proven hamartomas were reviewed. None of the cases had a preoperative fine-needle aspiration diagnosis of hamartoma. Cytologic characteristics were retrospectively evaluated in a semiquantitative manner and compared with the histologic findings. RESULTS: The aspirates were moderately cellular and contained sheets of both bland ductal cells and lobular units. Adipose tissue was present in varying amounts. Bipolar stromal nuclei were readily apparent, whereas intact stromal fragments were less prominent. Cytologic atypia was uniformly absent. CONCLUSIONS: The cytology of breast hamartomas shows considerable overlap with other benign breast disease and is unlikely to be interpreted as malignant. The findings of intact lobular units and a relative paucity of stroma in an aspirate from a well circumscribed breast lesion may suggest the diagnosis of hamartoma.     

Activity of compound G2 isolated from alfalfa roots in experimental dermatophyte infection.

Compound G2 isolated from alfalfa roots was applied topically to skin lesions of guinea pigs experimentally infected with the dermatophyte Trichophyton mentagrophytes var. granulare. After 12 to 15 applications, 80% of the infected lesions were cured, as judged by clinical and microbial criteria, compared with 20% of the untreated lesions which healed spontaneously (P less than 0.01).     

The major histopathologic characteristics in the vulvar vestibulitis syndrome

OBJECTIVE: In order to better understand the etiology of the vulvar vestibulitis syndrome, we examined the histopathologic parameters in vestibular mucosa, and compared the findings in specimens obtained from women with vulvar vestibulitis with those obtained from the control group. STUDY DESIGN: Specimens of vestibulitis were obtained from 24 patients, undergoing circumferential vestibulectomy under general anesthesia due to the symptoms and signs consistent with vulvar vestibulitis. Control specimens were obtained from 16 women, without symptoms or signs of vulvar vestibulitis, undergoing reconstructive introital surgery due to roomy vagina, rectocele or painful episiotomy. All vestibular tissue specimens were examined for intensity of inflammation, extension of inflammatory cells into the epithelium, vascular proliferation, the presence of mast cells and proliferation of peripheral nerve bundles. RESULTS: No significant difference was found regarding the degree of inflammation, the extension of inflammatory cells into the epithelium, the vascular proliferation and the presence of mast cells while comparing the study and the control groups. The only histopathologic feature, differentiating the patients with vulvar vestibulitis from the control group, was the proliferation of peripheral nerve bundles found in 19 out of 24 (79.1%) specimens expressing vestibulitis and in none of 16 control specimens (p < 0.0001). CONCLUSION: Our results, therefore, support the existence of peripheral nerve hyperplasia in vestibular tissue obtained from patients with vulvar vestibulitis, and exclude the role of active inflammation or mast cells as probable etiologies for the vulvar vestibulitis syndrome.