Search results for "Leiomyomatosis"

Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization

2020

Simple Summary Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancer (RCC), with no data on its prevalence worldwide. No genotype-phenotype associations have been described. The aim of our study was to describe the genotypic and phenotypic features of the largest series of patients with HLRCC from Spain reported to date. Of 27 FH germline pathogenic variants, 12 were not previously reported in databases. Patients with missense pathogenic variants showed higher frequencies of CLMs, ULMs and RCys, than those with loss-of-function varia…

Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas.

1998

Hereditary papillary renal carcinoma (HPRC) is a recently recognized form of inherited kidney cancer characterized by a predisposition to develop multiple, bilateral papillary renal tumours. The pattern of inheritance of HPRC is consistent with autosomal dominant transmission with reduced penetrance. HPRC is histologically and genetically distinct from two other causes of inherited renal carcinoma, von Hippel-Lindau disease (VHL) and the chromosome translocation (3;8). Malignant papillary renal carcinomas are characterized by trisomy of chromosomes 7, 16 and 17, and in men, by loss of the Y chromosome. Inherited and sporadic clear cell renal carcinomas are characterized by inactivation of b…

Influence of the ovary on parameters of LH secretion during the recovery from buserelin-induced desensitization

1994

Abstract This study examined the effect of the ovary on LH pulsatility and on the secretory performance of gonadotrophes during the phase of recovery after treatment with buserelin, a GnRH analogue. We included 12 patients, who received buserelin (1.2 mg/day, intranasally for 3 months) as a reductive therapy for uterine leiomyomatosis prior to hysterectomy. Six patients were oophorectomized and the other 6 patients had their ovaries preserved. LH was measured in samples taken basally up to 36 days after suppression of buserelin. LH pulsatility was studied on day 9 along a 24-h cycle, and the response of the hormone to a double-stimulus GnRH test on days 0, 9, 20, and 34. The concentration o…

Painful papule on the right arm of a woman.

2018

Minimal invasive Therapie bei peritonealer Leiomyomatose

1994

Leiomyomatosis peritonealis disseminata (LPD) is a rare benign disease characterised by the presence of multiple intraabdominal nodules, consisting of benign smooth muscle. LPD has only been found in women, predominantly in their late reproductive age. There is a very high association with excess exogenous and endogenous female gonadal steroids, specifically oestrogen and progesterone. Since it is grossly indistinguishable from diffuse carcinomatosis of the peritoneum, several unnecessary radical procedures have resulted. We describe the 44th documented case and the first case of minimal invasive surgery in a 42-year-old women with peritoneal leiomyoma on the right pelvic wall and uterine s…

Quantitative analysis of airway obstruction in lymphangioleiomyomatosis

2020

Lymphangioleiomyomatosis (LAM) is a rare, cystic lung disease with progressive pulmonary function loss caused by progressively proliferating LAM cells. The degree of airway obstruction has not been well investigated within the pathogenesis of LAM. Using a combination of ex vivo computed tomography (CT), microCT and histology, the site and nature of airway obstruction in LAM explant lungs was compared with matched control lungs (n=5 each). The total number of airways per generation, total airway counts, terminal bronchioles number and surface density were compared in LAM versus control. Ex vivo CT analysis demonstrated a reduced number of airways from generation 7 on (p<0.0001) in LAM compar…

Angiomyolipomas are indicator lesions for sporadic lymphangioleiomyomatosis in women.

2008

Sekundäre Achalasie bei niedrigmalignem Non-Hodgkin-Lymphom und Leiomyomatose der Kardia

2008

A 28-year-old man had been dysphagic for 9 months with a weight loss of 4 kg. A preliminary diagnosis of primary achalasia was made on the basis of typical radiological and manometric findings. Despite balloon dilatation of the cardia the symptoms did not improve and further diagnostic tests were performed. Ultrasound demonstrated a 4 cm tumour below the cardia. But its type and possible malignancy remained uncertain even at laparotomy. But as a malignant tumour was suspected a gastrectomy and omentectomy with removal of the local and regional lymph nodes were performed. After this the symptoms regressed and postoperative food intake was without problem. Histological examination of the surg…

An Extremely Rare Case of Disseminated Peritoneal Leiomyomatosis with a Pelvic Leiomyosarcoma and Omental Metastasis after Laparoscopic Morcellation:…

2022

Minimally invasive treatment of uterine fibroids usually requires a power morcellation, which could be associated with several complications. A rare sequela is disseminated peritoneal leiomyomatosis. Indeed, recurrence or metastasis in these cases could be attributed to iatrogenic or under-evaluation of primary tumors, although a subset of cases is a sporadic sample of biological progression. We present an extremely rare case of a patient who underwent laparoscopic morcellation and after 12 years developed a pelvic leiomyosarcoma with two omental metastases, disseminated peritoneal leiomyomatosis with a parasite leiomyoma with bizarre nuclei and a parasite cellular leiomyoma simultaneously.…