Lymphangioleiomyomatosis: a case report and review of diagnosis and treatment

Abstract

Lymphangioleiomyomatosis (LAM) is a rare disease that generally affects young women and involves the abnormal proliferation of smooth muscle-like cells (LAM cells) in the lungs (pulmonary LAM) and extrapulmonary sites (extrapulmonary LAM). This disease is rare in males. It is hard to distinguish between lung cancer and pulmonary LAM, especially during early stages. Herein, we present a case of a 66-year-old man with a small nodule in the right upper lobe that was first diagnosed as a lung malignancy using a chest CT scan. After a wedge dissection, a pathologist performed a histologic and immunohistochemical examination, and a diagnosis of pulmonary LAM was made. We further performed a 518-gene panel analysis using next-generation sequencing, and only three genes, BARD1, BLM, and BRCA2, were found to have mutations. We also provide a summary of the diagnosis and treatment of this disease.

A second hit somatic (p.R905W) and a novel germline intron-mutation of TSC2 gene is found in intestinal lymphangioleiomyomatosis: a case report with literature review

“…In women with TSC, the prevalence of TSC-LAM is 34%; however, the estimated prevalence of S-LAM is approximately 10,000 patients worldwide, which is considerably less than that of TSC-LAM [ 31 , 32 ]. Both S-LAM and TSC-LAM are associated with mutations in TSC1 and, more commonly, in TSC2 genes [ 33 ]. Through WGS, we identified a somatic gene mutation, p.R905W (c.C2713T), in the TSC2 region (of chromosome 16p13).…”

A Second Hit Somatic (P.R905W) and a Novel Germline Intron-Mutation of TSC2 Gene is Found in Intestinal Lymphangioleiomyomatosis: A Case Report with Literature Review

“…40,41 Both S-LAM and TSC-LAM are associated with mutations in TSC1 and, more commonly, in TSC2 genes. 42 Through WGS, we identi ed a somatic gene mutation, p.R905W (c.C2713T), in the TSC2 region (of chromosome 16p13), a known oncogenic variation in TSC. Arginine at codon 905 is a critical amino acid for the function of tuberin, and two missense mutations, 2714G > A R905Q and 2713C > T R905W in TSC2, have been reported at this codon.…”

Rozpoznanie i leczenie limfangioleiomiomatozy (LAM) z grupy PEComa

“…Pleural LAM is rarely diagnosed in postmenopausal patients -of note here is the often occurring information about the use of hormonal replacement therapy [12,13]. Single cases have been described of the occurrence of the disease in children and men without predisposing genetic factors [14][15][16]. Extrapulmonary perturbations within the lymphatic system are found often in patients with the pulmonary LAM form -perturbations in the patency of the thoracic duct are found in over 70%, lymph exudate in the retroperitoneal space is observed in 30% of the cases [17].…”

“…In the paper by Fujita et al (2015), inactivating somatic TSC1/TSC2 mutations were detected in LAM cells in 6 out of 9 patients with LAM [74]. Among other genetic changes observed in patients with lymphangioleiomyoma are: germline mutations within BARD1, BLM and BRCA2 [14] and EGFR amplification [56], however, their role in LAM pathogenesis has not been fully analyzed.…”