Primary Diffuse Leptomeningeal Melanomatosis of Spine: 18F-FDG PET Findings.

Primary diffuse leptomeningeal melanomatosis is a rare variant of malignant melanoma of the central nervous system, arising from melanocytes of leptomeninges. It may involve leptomeninges and may invade brain superficially. The diagnosis of the disease with conventional imaging techniques is quite difficult. This case demonstrates the F-FDG uptake of primary diffuse leptomeningeal melanomatosis matching with MRI contrast enhancement regions particularly in the lower thoracic and superior lumbar region.

Lhermitte-Duclos Disease in a Six-Year Old Child: A Rare Presentation.

Lhermitte-Duclos disease (LDD) is a rare, slow-growing, benign lesion of the cerebellum. It is often seen in the second and fourth decades. This disease is extremely rare in childhood. A 6-year-old girl presented with loss of balance. A mass lesion in the right cerebellum was detected by magnetic resonance imaging. The patient underwent surgical removal of the lesion, and the histological diagnosis was dysplastic gangliocytoma (LDD). The patient was discharged without complication, and her balance improved in the follow-up period. In this report, we present this rare occurrence in childhood and discuss the clinical course and management. LDD is very rare in early childhood and should be considered in the differential diagnosis of posterior fossa lesions.

Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset.

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifestation of cutaneous and uterine leiomyomas together with renal cancer due to autosomal dominant germline mutations of fumarate hydratase gene. A twenty-year-old female patient presented with type-II segmental piloleiomyoma and increased menstruation due to uterine leiomyomas, with a history of bilateral nephrectomy performed at 13 and 16 years of age for type 2 papillary renal cell carcinoma. This case represents one of the very early onsets of hereditary leiomyomatosis and renal cell carcinoma syndrome. As genetic anticipation for renal cancer is a well-documented entity for HLRCC syndrome, early recognition is crucial for both the patient and her family in order to provide appropriate counseling and initiation of surveillance.

Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset

Abstract Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifestation of cutaneous and uterine leiomyomas together with renal cancer due to autosomal dominant germline mutations of fumarate hydratase gene. A twenty-year-old female patient presented with type-II segmental piloleiomyoma and increased menstruation due to uterine leiomyomas, with a history of bilateral nephrectomy performed at 13 and 16 years of age for type 2 papillary renal cell carcinoma. This case represents one of the very early onsets of hereditary leiomyomatosis and renal cell carcinoma syndrome. As genetic anticipation for renal cancer is a well-documented entity for HLRCC syndrome, early recognition is crucial for both the patient and her family in order to provide appropriate counseling and initiation of surveillance.

Concordance between thyroid nodule sizes measured by ultrasound and gross pathology examination: effect on patient management.

Ultrasound examination (US) is an essential tool in the evaluation of thyroid nodules. The size determined by US is used to distinguish between clinical vs. nonclinical thyroid nodules i.e. greater than or equal to or less than 1 cm. In this study, we evaluated the concordance between the sizes of thyroid nodules measured by US and by gross examination after thyroidectomy. This study included 664 nodules that underwent fine-needle aspiration (FNA) and subsequent excision in 621 patients; 580 had single and 41 patients had multiple (39 with 2, and 2 with 3 nodules) nodules. Both US and gross pathology measurements were taken in three dimensions. The nodule sizes as measured by US were stratified into five groups: A: or=5.1 cm. FNA diagnoses were categorized into: Benign (n = 59), Neoplastic / Indeterminate (n = 342), Suspicious (n = 123), Malignant (n = 106), and nondiagnostic (n = 34). Upon excision 278 (42%) nodules were classified as malignant and 386 (58%) as benign. In group A the concordance between US and excisional size was 78.5%, group B 56%, group C 34.5%, group D 40% and group E 52.5%. Only 14 (14/664 2%) nodules measured

Prognostic value of p53 protein and MK-1 (a tumor-associated antigen) expression in gastric carcinoma.

BACKGROUND: MK-1, the target molecule of FU-MK-1, is encoded by the GA733-2 gene, which is currently being used as a target in clinical trials for gastric, intestinal and biliary cancer treatment with monoclonal antibodies. Also of interest is p53, a protein that has been intensively investigated in relation to particular types of tumors, patterns of metastases, tumor stage, and prognosis. METHODS: The expression of p53 protein and MK-1 antigen was investigated in specimens from 42 patients with gastric carcinoma. The specimens were stained by the avidin-biotin peroxidase technique for immunohistochemical examination. RESULTS: MK-1 was positive in 21 (50%) of the 42 cases. MK-1 expression was more frequent in cardia tumors (71%), in large (>3 cm) tumors (60%-64%), and in specimens from patients with more than five metastatic lymph nodes (69%). p53 expression was present in 20 (48%) of the 42 cases. Of these 20 patients, 15 (52%) had tubular adenocarcinoma (TA) and 5 (38%) had signet ring cell carcinoma. p53 expression was more frequent in the tumors of male patients (55% vs 27%); in poorly differentiated TAs (60% vs 47% in well-to-moderately differentiated TAs); in smaller tumors (< or = 3 cm, 72% vs 43%-50% in larger tumors); in patients with a prominent inflammatory response (61% vs 21%; P < 0.02); and in patients with lymphatic vessel invasion (77% vs 34%; P < 0.02). However, p53 expression was less frequent in the presence of more than five metastatic lymph nodes (23% vs 60% for five or fewer nodes; P < 0.05). Most patients with p53- and MK-1-positive gastric carcinomas and those more than five metastatic lymph nodes had a poor prognosis. CONCLUSION: The study found that the expression of both p53 and MK-1 was frequent in aggressive gastric carcinomas; however, extensive lymph node involvement (more than five nodes) was the only significant factor related to overall survival.

Fine-needle aspiration of follicular lesions of the thyroid. Diagnosis and follow-Up.

The differential diagnosis of a follicular lesion/neoplasm in thyroid FNA specimens includes hyperplastic/adenomatoid nodule, follicular adenoma and carcinoma, and follicular variant of papillary thyroid carcinoma. In our laboratory we separate follicular lesions of thyroid into hyperplastic/adenomatoid nodule (HN), follicular neoplasm (FON) and follicular derived neoplasm with focal nuclear features suspicious for papillary thyroid carcinoma (FDN). This study reports our experience with 339 cases diagnosed as FON and 120 as FDN. All cases were evaluated for histologic diagnosis, age, sex and size of the nodule. Histopathologic follow-up was available in all cases. The malignancy rate was 22% (74/359) and 72% (86/120) for cases diagnosed as FON and FDN, respectively. In the FON category almost half of the malignant cases were papillary carcinoma. The risk of malignancy was higher in patients younger than 40 yr (53% vs. 30%) than in patients 40 year or more years old and greater in males (41% vs. 33%) than females. No statistically significant relationship was noted between the sizes of the nodules and benign vs. malignant diagnosis. According to this study it is important to divide follicular patterned lesions of thyroid into FON and FDN in the cytology specimens due to significantly different risk of malignancy (22% vs. 72%). In addition, clinical features, including gender and age can be part of the decision analysis in selecting patients for surgery.

Villoglandular papillary adenocarcinoma of the uterine cervix in a pregnant woman: a case report and review of literature.

Villoglandular papillary adenocarcinoma (VPA) of cervix is rare but a well recognized variant of cervical adenocarcinoma with favorable prognosis occurring in younger age group. A 28-year-old white woman, gravida 3, para 2 was admitted for abnormal vaginal bleeding, when she was pregnant at 8th weeks of gestation. Physical examination revealed about 2.5 cm polipoid lesion of the cervix protruding into vagina. Histopathological findings were consistent with cervical VPA. After termination of pregnancy, radical hysterectomy type III was performed. The patient underwent second, third and fourth laparotomies because of recurrent pelvic masses. At the end of five years follow-up period, she died because of the complication of recurrent tumor. VPA is not an innocent tumor, and can be complicated by recurrence and metastasis. More radical surgical and medical attempts should be planned.

Altered distribution of metaplastic Paneth, gastrin and pancreatic acinar cells in atrophic gastritic mucosa with endocrine cell lesions.

The mechanism of progression from gastric endocrine cell hyperplasias (ECHs) to carcinoid tumor (GCT) is still unknown. In these lesions, the distribution of metaplastic Paneth, gastrin and pancreatic acinar cells developing due to consequences of corporal mucosal atrophy has not been investigated in detail. In this study, 33 gastric endoscopic biopsies with endocrine cell lesions were examined. In all cases except 6 with solitary GCT, complete-type (small intestine) intestinal metaplasia (IM) with Paneth cells was observed. The density of lysozyme-positive Paneth cells in IMs in cases with GCTs was less than those in ECH alone. The density of gastrin-positive cells in IMs and average number of micronodules of ECHs were similar. Pancreatic acinar metaplasia (PAM) was observed in 6 cases of GCTs with ECH. The size of GCTs with ECH was smaller than those without ECH. By image analysis, the percentage of Ki67 (MIB-1, proliferation marker) expressing cells of GCTs with ECH was 5.1+/-0.6%, and GCT without ECH 7.8+/-1%. Our results indicate that few Paneth cells and many PAMs in atrophic corporal mucosa are seen more frequently in cases of GCTs with ECH, compared to those in ECH alone. Gastrin-positive cells in the corporal IM may stimulate enterochromaffin-like (ECL) cells, which may induce hyperplasia, dysplasia or neoplasia by augmenting the effects of hypergastrinemia through a paracrine mechanism on local gastrin-sensitive cells.

Testicular (gonadal stromal) fibroma: case report and review of the literature.

A 25-year-old man presented with complaint of a painless enlargement in his left testis. The solid, encapsulated, circumscribed and grayish-white testicular mass displayed the characteristics of testicular fibroma histologically. It was composed of acellular collagenized plaques and hypercellular areas of fibroblastic spindle cells. Immunohistochemically, the neoplastic cells were positive for vimentin and smooth muscle actin, but not for cytokeratin, S-100 protein, desmin, CD99/MIC2 (a protein expressed by Sertoli cells and granulosa cells) and CD34. Only 18 cases of testicular (gonadal stromal) fibroma composed exclusively of spindle cells have been reported to date. An additional case of fibroma, which lacks definite neoplastic sex cord elements, and its differential diagnosis from other mesenchymal lesions of testis are discussed here, together with other cases in the literature.