1/44. Pulmonary lymphangioleiomyomatosis. A study of 69 patients. Groupe d'Etudes et de Recherche sur les Maladies "Orphelines" Pulmonaires (GERM"O"P).Pulmonary lymphangioleiomyomatosis (LAM) is a rare disorder of unknown cause characterized by peribronchial, perivascular, and perilymphatic proliferation of abnormal smooth muscle cells leading to cystic lesions. The hypothesis of hormonal dependence and the effectiveness of hormonal therapy have not yet been demonstrated conclusively, and the prevalence of extrathoracic manifestations and the survival of patients with LAM are somewhat contradictory. A multicentric retrospective study was conducted in an attempt to describe better the initial features, the diagnostic procedures, the associated lesions, and, above all, the management and course of LAM in a large homogeneous series of 69 stringently selected patients, with a majority of cases diagnosed since 1990. The aim of the study, based on a review of the literature, also was to provide a comprehensive view of this uncommon disease. The clinical features were in keeping with previous studies, but we found that exertional dyspnea and pneumothorax were the most common features, and chylous involvement was less frequent. LAM was diagnosed after menopause in about 10% of cases. The onset of LAM occurred during pregnancy in 20% of cases, and a clear exacerbation of LAM was observed in 14% of cases during pregnancy. Pulmonary LAM was diagnosed on lung histopathology in 83% of cases, but renal angiomyolipoma, observed in 32% of our patients, may be a useful diagnostic criterion when associated with typical multiple cysts on chest CT scan or with chylous effusion. Chest CT scan was more informative than chest X-ray (normal in 9% of cases), and may be indicated in spontaneous pneumothorax or renal angiomyolipoma in women of childbearing age. About 40% of the patients had a normal initial spirometry, while an obstructive ventilatory defect (44%), a restrictive ventilatory defect (23%), was observed in other patients. Initial diffusing capacity for carbon monoxide was frequently decreased (82%). Hormonal therapy was administered in 57 patients, but a clear > or = 15% improvement of FEV1 was observed in only 4 evaluable patients, treated with tamoxifen and progestogens (n = 2), progestogen (n = 1), and oophorectomy (n = 1). Probably 1 of the most urgent needs for clinical research in LAM is to test the currently available hormonal treatments in the context of international multicenter prospective controlled studies. pleurodesis was performed in 40 patients. lung transplantation was performed in 13 patients, 7.8 /- 5.2 years after onset of LAM, in whom the mean FEV1 was 0.57 /- 0.15 L. After a follow-up of 2.3 /- 2.2 years, 9 patients were alive. Mean follow-up from onset of disease to either death or closing date was 8.2 /- 6.3 years. overall survival was better than usually reported in LAM, and Kaplan-Meier plot showed survival probabilities of 91% after 5 years, 79% after 10 years, and 71% after 15 years of disease duration.- - - - - - - - - - ranking = 1keywords = leiomyomatosis (Clic here for more details about this article) |
2/44. Giant angiomyolipoma associated with marked pulmonary lesions suggesting lymphangioleiomyomatosis in a patient with tuberous sclerosis.The association between tuberous sclerosis (TS) and angiomyolipoma (AML) is well known. A patient with TS and giant AML mimicking Renal Cell Carcinoma (RCC), measuring 29 x 18 x 11 cm, weighing 4700 gr is presented. Imaging studies revealed coexistent pulmonary lymphangioleiomyomatosis and concurrent renal and pulmonary involvement is extremely rare in patients in TS. We believe that the growth potential of this hamartomatous lesion may reach to a life threatening size.- - - - - - - - - - ranking = 1keywords = leiomyomatosis (Clic here for more details about this article) |
3/44. Ovarian endometriosis and clear cell carcinoma, leiomyomatosis peritonealis disseminata, and endometrial adenocarcinoma: an unusual, pathogenetically related association.A 42 year-old female with a preoperative clinical diagnosis of ovarian cancer underwent laparotomy which revealed leiomyomatosis peritonealis disseminata (LPD) in the peritoneum and omentum and a left ovarian endometriotic cyst associated with a clear cell carcinoma. A grade 1, superfically invasive villoglandular endometrial endometrioid adenocarcinoma was also found. Microscopically, the endometriotic cyst wall contained an extensive peripheral band-like condensation of stromal cells. These cells were strongly positive for alpha inhibin and may have been the hormonal source responsible for the induction of the simultaneous LPD and endometrial adenocarcinoma. It is proposed that endometriosis is not only a precursor of clear cell carcinoma but, through secondary hormonal induction of the surrounding ovarian stroma, may also provide a hormonal stimulus for diverse proliferative processes.- - - - - - - - - - ranking = 1keywords = leiomyomatosis (Clic here for more details about this article) |
4/44. Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology.Little has been known about the molecular background of familial multiple cutaneous leiomyomatosis (MCL). We report here a clinical, histopathological, and molecular study of a multiple cutaneous leiomyomatosis kindred with seven affected members. This detailed study revealed strong features of a recently described cancer predisposition syndrome, hereditary leiomyomatosis and renal cell cancer (HLRCC). The family was compatible with linkage to the HLRCC locus in 1q. Also, all seven cutaneous leiomyomas derived from the proband and analyzed for loss of heterozygosity displayed loss of the wild-type allele, confirming the association with a susceptibility gene in chromosome 1q. One individual had had renal cell cancer at the age of 35 years. This tumor displayed a rare papillary histopathology, which appears to be characteristic for HLRCC. The derived linkage, loss of heterozygosity, and clinical data suggest that MCL and HLRCC are a single disease with a variable phenotype. The possibility that members of leiomyomatosis families are predisposed to renal cell cancer should be taken into account.- - - - - - - - - - ranking = 1.6keywords = leiomyomatosis (Clic here for more details about this article) |
5/44. lymphangioleiomyomatosis associated with pulmonary metastasis from an occult papillary carcinoma of the thyroid: report of a case occurring in a patient without tuberous sclerosis.We report on 50-year-old woman without tuberous sclerosis, presenting with recurrent spontaneous pneumothorax. A CT-scan of the chest showed multiple, bilateral, thin-walled cysts, consistent with pulmonary lymphangioleiomyomatosis. A videothoracoscopic lung biopsy confirmed the diagnosis of lymphangioleiomyomatosis, but revealed also a micrometastasis from an occult papillary carcinoma of the thyroid gland. The main histologic differential diagnosis and the possible correlation between lymphangioleiomyomatosis and thyroid diseases are briefly discussed.- - - - - - - - - - ranking = 1.4keywords = leiomyomatosis (Clic here for more details about this article) |
6/44. Renal angiomyolipoma in association with pulmonary lymphangioleiomyomatosis.The authors report on a premenopausal female hemodialysis patient with relapsing pneumothorax, in whom the diagnosis of pulmonary lymphangioleiomyomatosis (LAM) was made. Ten years earlier, she had retroperitoneal bleeding from a kidney tumor corresponding to an angiomyolipoma (AML). The association between renal AML and pulmonary LAM is reviewed. Renal AML represents the most frequent extrapulmonary manifestation of pulmonary LAM. It is found in 32% to 60 % of cases in which a systematic search with abdominal computed tomography (CT) scan is done. The latter approach is advised to help avoid complications caused by renal AML. Therapeutic recommendations for renal AML are based on tumor size or presence of symptoms. Conversely, premenopausal women presenting with AML should be investigated for associated pulmonary LAM with high-resolution CT scan. Because LAM is very likely estrogen dependent, one of the several proposed antiestrogen therapies should be considered. Finally, there is significant overlap between renal AML, pulmonary LAM, and tuberous sclerosis. The latter should therefore be actively searched for in case of either AML or LAM.- - - - - - - - - - ranking = 1keywords = leiomyomatosis (Clic here for more details about this article) |
7/44. Pulmonary lymphangioleiomyomatosis and multiple hepatic angiomyolipomas in a man.Pulmonary lymphangioleiomyomatosis (LAM) is an uncommon disease that to this point has been known to occur exclusively in reproductive women. To our knowledge, only one case of pulmonary LAM that was proven pathologically has been reported in a genotypical and phenotypical man. Multiple occurrence of hepatic angiomyolipomas is also rare, and only six cases have been found in the literature. Here, we report a biological and phenotypical man who had pulmonary LAM and multiple hepatic angiomyolipomas, leading to a presumptive diagnosis of tuberous sclerosis. This unusual presentation further broadens the wide spectrum of various clinicopathological aspects of pulmonary lymphangioleiomyomatosis and hepatic angiomyolipoma. Here, we emphasize that multiple hepatic angiomyolipomas should be distinguished from hepatic tumors, particularly in an endemic area for hepatocellular carcinoma. Further, pulmonary lymphangioleiomyomatosis can be a cause of cystic pulmonary disease even in a man.- - - - - - - - - - ranking = 1.4keywords = leiomyomatosis (Clic here for more details about this article) |
8/44. Leiomyomatosis peritonealis disseminata with adipocytic differentiation.We report a rare autopsy case of leiomyomatosis peritonealis disseminata in a woman, who had been operated upon for ovarian granulosa cell tumor two years prior to her death. The deposits showed both myofibroblastic and adipocytic differentiation.- - - - - - - - - - ranking = 0.2keywords = leiomyomatosis (Clic here for more details about this article) |
9/44. Diffuse esophageal leiomyomatosis: another cause of pseudoachalasia.The patient was a 22-year-old woman who had presented in early childhood with gastroesophageal reflux and who subsequently underwent surgery. It was commented upon by the surgeons at that time that the esophagus was abnormally thickened. The patient subsequently presented during her first pregnancy with a vulval tumor, which proved histologically to be a leiomyoma. She was also found to have a grossly dilated esophagus and was thought to have achalasia. However, endoscopic ultrasound imaging showed gross hypertrophy of the mid- and distal esophageal wall, with only mild symptoms of dysphagia, which had been long-standing. The appearance of the esophagus was consistent with diffuse esophageal leiomyomatosis. In view of the associated vulval leiomyoma, the patient demonstrated esophagovulvar syndrome.- - - - - - - - - - ranking = 1keywords = leiomyomatosis (Clic here for more details about this article) |
10/44. Leiomyomatosis peritonealis disseminata treated with a gonadotropin-releasing hormone agonist. A case report.To our knowledge, this is the first report of documented growth regression of leiomyomatosis peritonei while the patient was receiving a gonadotropin-releasing hormone agonist. This further documents the role of gonadal steroids in the growth of this tumor.- - - - - - - - - - ranking = 0.2keywords = leiomyomatosis (Clic here for more details about this article) |
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