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At least 19 recordsLinked to original sources
PubMed1975

Diffuse leiomyomatosis of the esophagus: a case report and review of the literature.

A case of diffuse leiomyomatosis of the esophagus in a 21-year-old woman with a 5-year history of dysphagia is presented. The radiological appearance was that of achalasia, but at esophagoscopy, a diagnosis of an organic stricture of the lower end of the esophagus was made. During the operation a diffuse tumor involving the lower end of the esophagus, cardia, upper portion of the stomach, and the tail of the pancreas was found. The histological diagnosis was diffuse leiomyomatosis of the esophagus. The individual characteristics of the microscopic picture are described. Distal esophagectomy and total gastrectomy resulted in complete recovery of the patient. This is a very rare condition; only a dozen similar cases have been published before. The data of these patients are presented.

Adult↗
PubMed1979

[Leiomyomatosis of the anal canal].

The solitary occurrence of a leiomyoma in the anal channel is rarely observed. Still more infrequently is the multiple appearance of such tumours in the anal channel which is to be named leiomyomatosis. On the basis of an own observation concerning the appearance of a relapsing leiomyomatosis of the anal channel in a 66-year-old woman is reported, which hitherto has not yet been described in literature. The clinical and morphological problems of this disease are discussed.

Aged↗
PubMed1979

[Intravascular uterine leiomyomatosis].

Intravascular (intravenous) leiomyomatosis is a rare uterine neoplasm. The unusual growth and extension of histologically benign smooth muscle tumors in vascular channels of uterus and pelvis are cardinal features of the disease. The course of the affection has been benign in the majority of the cases reported in the literature. Clinical and pathologic aspects are briefly evaluated in the context of an example of intravascular leiomyomatosis in a 30-year-old woman.

Adult↗
PubMed2026

Pathology-Driven Diagnosis of Hereditary Leiomyomatosis and Renal Cell Carcinoma: A Clinicopathological and Genetic Analysis of Three Cases.

INTRODUCTION: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant disorder characterized by three principal clinical features: cutaneous leiomyomas (cLMs), uterine leiomyomas, and fumarate hydratase (FH)-deficient renal cell carcinoma (RCC). Although 200-300 families have been identified worldwide, its true prevalence remains unknown. CASE PRESENTATIONS: We present three HLRCC cases in which detailed pathological examination raised initial clinical suspicion. Cases 1 and 2 presented with advanced RCC exhibiting diverse morphologies. Case 3 presented with multiple painful cLMs and no renal tumors. All three cases were confirmed via germline genetic testing, which revealed distinct FH mutations. CONCLUSIONS: These cases underscore the importance of careful histopathological and immunohistochemical evaluation for the diagnosis of HLRCC. Multidisciplinary discussion integrating clinical, radiological, pathological, and genetic findings is essential for identifying affected families and initiating timely surveillance.

cutaneous leiomyoma↗
PubMed2024

Case report: response to immunotherapy and association with the fh gene in hereditary leiomyomatosis and renal cell cancer-associated renal cell cancer.

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant syndrome caused by a germline mutation in the fumarate hydratase (FH) gene that manifests with cutaneous leiomyomas, uterine fibroids, and renal cell cancer (RCC). Patients with HLRCC-associated RCC (HLRCC-RCC) have aggressive clinical courses, but there is no standardized therapy for advanced HLRCC-RCC. In this study, we described a case of aggressive HLRCC in a 33-year-old female who exhibited a novel heterozygous germline insertion mutation in exon 8 of the FH gene (c.1126 C > T; p.Q376*). The patient underwent laparoscopic resection of the right kidney, but metastases appeared within 3 months after surgery. Histological staining of the resected tumor revealed high expression levels of programmed cell death-ligand 1 (PD-L1). Therefore, the patient was treated with immunotherapy. The patient achieved a partial response to immunotherapy, and the treatment of metastatic lesions has continued to improve. A thorough literature review pinpointed 76 historical cases of HLRCC-RCC that had undergone immunotherapy. From this pool, 46 patients were selected for this study to scrutinize the association between mutations in the FH gene and the effectiveness of immunotherapy. Our results indicate that immunotherapy could significantly improve the overall survival (OS) of patients with HLRCC-RCC. However, no influence of different mutations in the FH germline gene on the therapeutic efficacy of immunotherapy was observed. Therefore, our study suggested that immunotherapy was an effective therapeutic option for patients with HLRCC regardless of the type of FH germline mutation.

Humans↗
PubMed1977

Leiomyomatosis of the colon.

Excluding the rectum, smooth muscle cell tumors of the large bowel are extremely rare lesions. A unique case is reported of an infiltrating multinodular myomatous growth of semi-constrictive type affecting the ascending and transverse colon along its entire circumference and over a length of 35 cm. In the mesocolon near the colonic wall two tumor foci were present. Contrary to expectations from the growth behavior, histological examination revealed well differentiated smooth muscle cells with distinct myofilaments and absence of nuclear abnormalities and mitotic figures. No clinical evidence of malignancy was found and no recurrence was detected during a 39-month follow-up period which included a second-look operation. The contrasting fidings are discussed and it is concluded that the tumor should be considered a benign multicentric lesion, for which the term "leiomyomatosis of the colon" is suggested.

Adult↗
PubMed1977

Disseminated peritoneal leiomyomatosis.

Disseminated peritoneal leiomyomatosis is an unusual condition characterized by the development of numerous nodules in the peritoneal cavity which histologically have the appearance of smooth muscle tumors. The ninth proven case of this ill-understood disorder is presented here, with comments on some of the other published instances. Most reported cases were diagnosed in pregnant women, and there is good reason to believe that endocrine factors are of importance in the development of this condition. Attention is drawn to experimental studies in which an apparently similar condition has been produced in guinea pigs by endocrine manipulation. Clinically, the condition appears to be benign and the correct diagnosis is, therefore, of great importance. In the case presented here histological involution of the leiomyomatous peritoneal nodules could be demonstrated for the first time by two biopsies at an interval of 4 months--in the absence of any therapy apart from the termination of pregnancy.

Adult↗
PubMed1978

Leiomyomatosis peritonealis disseminata. An ultrastructural study.

Electron microscopic features of the eighth documented case of leiomyomatosis peritonealis disseminata identify the main proliferative cell type as a mature leiomyocyte with all its associated ultrastructural features. The histogenesis of this neoplasm is considered to be a multicentric metaplastic change determined by an abnormal tissue response to the elevated hormonal levels occurring in pregnancy or ovarian functioning tumors. It is suggested that the cell of origin is the multipotent subcelomic mesenchymal cell, which retains the capacity to differentiate into several tissues, among them smooth muscle. To illustrate this possibility, myofibroblasts, cells with hybrid characters of fibroblasts and leiomyocytes, were observed; these may represent a transitional stage between the mesenchymal cell and the smooth muscle proliferating cell.

Female↗
PubMed1979

Ultrastructure of myofibroblasts and decidualized cells in leiomyomatosis peritonealis disseminata.

A case of leiomyomatosis peritonealis disseminata studied by light and transmission electron microscopy is reported. The lesion, from a pregnant woman, was found to contain predominantly myofibroblasts and decidualized cells in a rich collagen stroma, while relatively few leiomyocytes and fibroblasts were observed. The development and fate of this entity are discussed in view of the present findings and those previously reported.

Adult↗
PubMed1979

Diffuse leiomyomatosis of the uterus precluding myomectomy.

Two cases of symmetrical uterine enlargement, with widespread involvement of the myometrium by innumerable leiomyomata, mainly of small and microscopic size, are reported. This unusual leiomyomatous enlargement of the uterus precludes myomectomy. A review of the literature revealed only 3 previous cases of this condition. The designation of diffuse leiomyomatosis of the uterus is proposed. The pathogenesis and differential diagnosis are discussed.

Adult↗
PubMed1979

Smooth muscle within ovarian decidual nodules: a link to leiomyomatosis peritonealis disseminata?

Evidence is presented for the coexistence of smooth muscle and decidual cells in nodules on and within the ovarian tunica albuginea at term. Routine histologic techniques and electron microscopy have been employed in characterizing the morphology of the nodules. Recent literature concerning the frequency of ovarian decidualization during pregnancy is discussed with respect to the possible relationship of such decidualization to the histogenesis of leiomyomatosis peritonealis disseminata (LPD). The hypothesis that LPD may represent "disseminated fibrosing decidua" is discussed in light of finding collagen fibrils, secretory decidual cells, and smooth muscle cells in these nodules. It is concluded that the present case does not represent "fibrosing decidua." The authors agree with others who have proposed that the smooth muscle in ovarian decidua and LPD result from proliferation of stem cells which may reside in the subperitoneal stroma in association with ectopic endometrial stroma and which may respond to the hormones of pregnancy.

Decidua↗
PubMed1977

Leiomyomatosis peritonealis disseminata. Report of a case and review of the literature.

The eighth documented case of leimoyomatosis peritonealis disseminata (LPD) is presented. Histologic evidence for concomitant intravenous leiomyomatosis and early development of a leiomyoma in a vessel wal was noted in the present case. Electronmicroscopic studies proved the smooth muscle origin of the tumors in this case. Intriguing features of this disease are its grossly malignant appearance, relatively benign histology, and generally favorable clinical behavior. Because women of reproductive age, especially in the fourth decade, are affected, hormones may play a role in the etiology of LPD. Intraoperative diagnosis requires frozen-section examination and treatment has included extirpation of involved tissues, wherever possible. Also advocated is surgical castration which may remove the hormonal stimulus for the growth of any residual tumor. Since LPD bears a close resemblance to genital leiomyosarcoma, it warrants proper recognition and management.

Adult↗
PubMed1979

Leiomyomatosis cutis et uteri.

A 32 year old female patient showed multiple plaque-like leiomyomata cutis and an uterus myomatosous of early onset. In the skin large areas of plaque-like confluent erythematous nodules consisting of smooth muscle tissue are formed. The patient suffered from frequent attacks of severe pain elicited by temperature changes or trauma. Treatment with nitroglycerine and nifedipine together with phenoxybenzamine completely suppressed the symptoms.

Adult↗