Lymphangiomyomatosis arising in the pelvic cavity: a case report

Lymphangioleiomyomatosis (LAM) is a rare disease usually occurring in young women of child-bearing age. It is characterized by a distinctive proliferation of lymphatic smooth muscle cells, especially occurring in the pulmonary parenchyme. The majority of primary LAM occurs in the lung, but there are a few reports of extrapulmonary cases. We report a case of a 21-yr-old female who first complained of low abdominal pain and was referred from a local clinic with the impression of an ovarian cyst. Gynecologic ultrasonography revealed a large posterior pelvic mass with an irregular echogenicity measuring 9.7 x 4.2 cm in size. Pelviscopy showed a large, thin walled, partly cystic, pelvic mass. The mass was partly removed. Microscopically, the mass was characterized by a haphazard proliferation of smooth muscle cells arranged in fascicular, trabecular, and papillary patterns around a ramifying network of endothelium-lined spaces. The cells were plump or epithelioid with abundant eosinophilic cytoplasm and showed a positive reaction for both alpha-smooth muscle actin and HMB-45 antigen. Surgical and pathological findings were consistent with pelvic retroperitoneal LAM. Despite the numerous treatment attempts, the patient suffered from intractable chylous ascites and developed pulmonary LAM and died due to severe respiratory distress.     

Morphometric analysis of the urethra of castrated female rats treated with tamoxifen

OBJECTIVES: The aim of this study was to evaluate the effects of tamoxifen on the weight and thickness of the urethral epithelium of castrated female rats. METHODS: Forty castrated adult female Wistar-Hannover rats were randomly divided into two groups: Group I (n=20) in which the animals received only the vehicle (propylene glycol) and Group II (n=20) in which the rats received tamoxifen 250microg/day by gavage. After 30 days of treatment, all animals were sacrificed and the urethra was immediately removed for weighing. Next, the urethra was divided into the proximal and distal segments, which were fixed in 10% formaldehyde and submitted to routine histological techniques for morphometric study. The data were analyzed using the weighted minimum mean-square error method and Student's t-test for two independent samples (p<0.05). RESULTS: There was a significant increase in the mean weight of the urethra in the rats of Group II compared to the control group, 32.0+/-2.0mg and 22.0+/-1.6mg, respectively (p<0.001). The mean thickness of the distal urethral epithelium of the animals treated with tamoxifen was significantly greater than that of the control group, 42.8+/-2.0microm and 36.6+/-1.5microm, respectively (p<0.001). There was no statistically significant difference between the two groups with respect to the epithelial thickness of the proximal urethra (p=0.514). CONCLUSION: Treating castrated adult rats with 250microg/day of tamoxifen for 30 days may increase the weight of the urethra and the thickness of the distal urethral epithelium.     

Morphometric analysis of the pelvis in mice treated neonatally with tamoxifen

The pelves of male and female C57BL/Tw mice given five daily injections of 100 μg tamoxifen, 50 μg dihydrotestosterone (DHT), or 2 μg diethylstibestrol (DES) from the day of birth were examined morphometrically and histomorphometrically. Total areas of the pelvis, ilium, ischium, and pubis were significantly smaller in neonatally tamoxifentreated mice than in the controls. There was no significant difference in length of the ischium between tamoxifen-treated and control mice of both sexes. However, lengths of ilium and pubis, and widths of ilium, pubis, and ischium in tamoxifen-treated male and female mice were significantly smaller than in the respective controls. In contrast, neonatal treatment with DHT or DES did not affect the shape of the pelvis of either sex. In the neonatally tamoxifen-treated females, the number of osteoblasts and osteoclasts per 200 μm trabecular surface length and per 10,000 μm² subperiosteal area of pubic bone section was smaller than in the controls. Inhibition of ossification persisted in the junction of the pubis and ischium of pelves treated with tamoxifen in vitro. These results suggest that neonatally administered tamoxifen mainly retards the growth of the ilium and pubis in mice by changing the activities of osteoclasts and osteoblasts, and that tamoxifen acts directly on the neonatal mouse pubis to inhibit its ossification. © 1993 Wiley-Liss, Inc.     

Analysis of the Ki-67 index in the vaginal epithelium of castrated rats treated with tamoxifen

OBJECTIVES:Vaginal atrophy and breast cancer are common conditions in postmenopausal women and tamoxifen is the standard endocrine treatment for hormone-sensitive tumors. The present study aimed to assess the effect of tamoxifen on Ki-67 protein expression in the vaginal epithelium of castrated rats.RESULTS:The mean index of Ki-67 expression in the rat vagina of groups I and II was 4.04±0.96 and 26.86±2.19, respectively (p<0.001).CONCLUSIONS:According to the results of the present study, tamoxifen, at the dose and treatment length used, induced a significant increase in the cell proliferation of the vaginal mucosa in castrated rats, as evaluated by Ki-67 protein expression.     

Absence of uterine tumours in CD-1 mice treated neonatally with subcutaneous tamoxifen or 4-hydroxyoestradiol

The effects of subcutaneous dosing of neonatal CD-1 mice with tamoxifen on days 1-5 after birth at doses of 0, 5, 10, 25 or 50 microg/pup or with 4-hydroxyoestradiol at 2 microg/pup have been investigated. Animals were culled at 1.5, 3, 6, 12 and 18 months after dosing and changes in uterine and ovarian pathology examined. Results showed both compounds to result in uterine hypoplasia relative to controls. At 18 months after dosing in the uterus, there was a fairly marked atrophy of the muscle layer, mild to moderate glandular hyperplasia of the endometrium even though these irregularly shaped glands did not penetrate through the myometrium and no adenocarcinomas were detected. At 18 months after dosing, oviducts showed mild focal adenomatous changes characterized by penetration epithelial hyperplasia, changes similar to those previously reported as 'diverticulosis and salpingitis isthmica nodosa' following diethylstilbestrol treatment of mice. At this time, both tamoxifen and 4-hydroxyoestradiol also affected the ovaries which showed a paucity of follicles and no corpora lutea, suggesting that there had been disruption to the oestrus cycle, particularly with tamoxifen at the highest dose where the ovaries of mice contained no developing follicles. At 18 months, control mice were cycling normally. Results failed to substantiate that tamoxifen and 4-hydroxyoestradiol are uterine carcinogens in this neonatal mouse model.     

Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid

Evidence for a bipolar disorder (BPD) susceptibility locus on chromosome 22q11 has been provided in several studies. One candidate gene that maps to this region is the G-protein alpha subunit gene Galphaz (GNAZ). We have identified a common silent polymorphism in GNAZ exon 2 by single strand conformation polymorphism analysis. The frequency of this polymorphism was determined in a control population (n=84) and in patients with BPD (n=88). The data showed a statistical trend toward a difference in the distribution of alleles in patients with BPD compared with control subjects (chi square=3.2, 1 df, P=0.073, two-tailed). No significant difference was detected when the GNAZ polymorphism was analyzed in control subjects and schizophrenia patients (n=63, P=0.92). These data continue to provide some support for a BPD susceptibility gene on 22q11, possibly in linkage disequilibrium with the GNAZ 309 polymorphism.     

Anophthalmia-Waardenburg syndrome: A report of three cases

We report on 2 Turkish families with children who had bilateral anophthalmia, upper and lower limb abnormalities, mental retardation and consanguineous parents. We have evaluated the 2 cases in the first family and the only case in the second as anophthalmia-Waardenburg syndrome. This is an extremely rare autosomal recessive syndrome. © 1996 Wiley-Liss, Inc.     

Juvenile dermatomyositis: A report of three cases

Juvenile dermatomyositis (JDM), an autoimmune idiopathic myositis, is characterized by rash and proximal muscle weakness. Immunohistopathology typically shows perivascular inflammatory infiltrate with predominance of CD4+ T lymphocytes, perifascicular atrophy, and upregulation of major histocompatibility complex class I. JDM has been attributed to a humoral-driven muscle microangiopathy probably implicating the type I interferon pathway. Tubulo-reticular inclusions present in endothelial cell of muscle are biomarkers of interferon exposure, and so may be an indirect data of this myopathy especially in the absence of rash and inflammatory infiltrate. We report on three patients in which electron microscopy solves the differential diagnosis among infantile myositis showing peculiar inclusions.     

致死性侏儒-附三例报告

目的研究致死性侏儒的临床、影像学、致病基因和病理学表现。方法复习1438例尸检中诊断为致死性侏儒的3例作回顾性研究。结果致死性侏儒胎儿长骨极短，可有不同程度的弯曲，四肢软组织堆积，胸腔狭小、肋骨短，心胸比例大于正常，腹部膨隆，头颅大、前额突，塌鼻。结论致死性侏儒是一种最常见的致死性短肢畸形，由纤维母细胞生长因子受体3（FGFR3）基因突变所致，具有明确的临床、影像学和病理学特征。     

Riedel's thyroiditis treated with tamoxifen

A 46-year-old woman with clinical diagnosis of Riedel's thyroiditis was admitted to our Department, presenting with dyspnea, dysphagia, fatigue, and hoarseness. Previously, she had been diagnosed with Hashimoto's thyroiditis and hypothyroidism. The disease had a progressive course and had lasted for a year before the definitive diagnosis of Riedel's thyroiditis was confirmed and treated with methylprednisolone, 12 mg daily, without success. We started therapy with tamoxifen, 10 mg twice a day, together with methylprednisolone, 16 mg daily, and L-thyroxin substitution therapy. The follow-up lasted for one year. Treatment with tamoxifen led to a significant subjective improvement and objective changes, confirmed by regular clinical examinations, ultrasonography, and computed tomography of the neck. After 8 months of therapy, the patient had no compression symptoms and goiter decreased in estimated weight from 105 g to 63 g according to ultrasound measurements. The patient underwent partial thyroidectomy at 10 months after diagnosis of Riedel's thyroiditis. Histopathology confirmed the diagnosis of Riedel's thyroiditis. Our report indicates that tamoxifen can be a valuable drug therapy in the treatment of Riedel's thyroiditis.     

Richter transformation with c-MYC overexpression: report of three cases

Pathogenesis of Richter transformation (RT) or Richter syndrome (RS) of chronic lymphocytic leukemia (CLL) is still largely unknown. Increasing evidences show that c-MYC may play a role in the development of RS. Here we report three cases of RS with overexpression of c-MYC. The first case was a 78-year-old male who initially presented with CLL and then developed diffuse lymphadenopathy and ascites shortly after. Ascites cytology showed a population of large lymphoid cells positive for MYC (8q24) rearrangement by fluorescence in situ hybridization (FISH) and overexpression of c-MYC by immunohistochemistry (IHC). The second case was a 66-year-old male presented with rapidly enlarging lymph nodes and pleural effusion after a long history of CLL. Biopsy showed large B-cells positive for c-MYC overexpression and high Ki-67 proliferation index (80-90%). The third case was a 62-year-old female with CLL who presented for lobectomy for lung adenocarcinoma. Interestingly, along with the carcinoma, large B-cell lymphoma was incidentally found which had the same immunophenotype as the CLL. FISH analysis revealed gain of c-MYC at 8q and IHC showed increased c-MYC expression. This study supports that c-MYC plays a critical role in RS.     

Cytological diagnosis of mesoblastic nephroma: A report of three cases with summary of prior published cases

Congenital mesoblastic nephroma (CMN) is a rare pediatric renal neoplasm, occurring most commonly in the first few months of life, with a favourable clinical outcome. Accurate pre‐operative cytological diagnosis of this entity is important as pre‐operative chemotherapy is not recommended and surgery is the treatment of choice. Cytodiagnosis of this rare tumor is discussed in only a few case reports. Here two cases of CMN and one case of cellular congenital mesoblastic nephroma (CCMN) diagnosed on FNAC along with their morphological differential diagnoses has been reported. They also take this opportunity to compare the cytological features of CMN with cellular CMN. Diagn. Cytopathol. 2016;44:823–827. © 2016 Wiley Periodicals, Inc.     

Characterization of the smooth muscle cell infiltrate and associated connective matrix of lymphangiomyomatosis. Immunohistochemical and ultrastructural study of two cases.

Lymphangiomyomatosis (LAM) consists of smooth muscle (SM) cell proliferation of unknown origin involving the lymph nodes and the lung interstitium. From morphological studies showing both SM differentiation of the proliferating cells and lymphatic hyperplasia, hypotheses were suggested concerning the origin of the proliferation. Two cases of LAM were investigated by electron microscopy and immunohistochemistry; tissues were obtained by lymph node and open lung biopsies. Cytoplasmic and matrix protein markers were used in order to clarify the pattern of differentiation of the proliferating cells and to characterize their connective tissue environment. The proliferating cells present ultrastructural characteristics of SM cells; they contain vimentin, desmin, and alpha-SM actin and are devoid of Factor VIII, favouring a parieto-arterial origin. The connective tissue matrix inside the infiltrate is composed of interstitial collagens and basement membrane components. At the late stage of the disease, remodelling of the interstitial matrix accompanies the infiltrate and remains perilesional.