Localized retroperitoneal lymphangioleiomyomatosis mimicking malignancy. A case report and review of the literature.
ABSTRACT Lymphangioleiomyomatosis (lymphangiomyomatosis [LAM]), a rare disease of unknown etiology that is seen only in women usually in the reproductive period, generally presents with features of pulmonary involvement. Extrapulmonary involvement, such as angiomyolipomas and retroperitoneal adenopathy, can occur in up to 75% of cases. It is very rare, however, for patients to present with features of extrapulmonary LAM. We present an unusual, localized case of LAM presenting with neurologic symptoms related to a retroperitoneal mass in a 51-year-old woman. Magnetic resonance imaging showed that the mass involved retroperitoneal lymph nodes, and a clinical diagnosis of atypical sarcoma (possibly from a uterine primary) was made. The mass was resected, and a total abdominal hysterectomy was performed. On pathologic examination, the mass showed classic histologic features of LAM with spread along lymphatic channels in the lymph nodes. Intralymphatic projections simulated lymphatic metastasis; however, the cytologic features were benign. Immunostains revealed the tumor to be positive for smooth muscle actin and desmin, but negative for HMB-45. The uterus was unremarkable, except for a subserosal leiomyoma. Although intratumoral variability for HMB-45 has recently been described, to the best of our knowledge, this is the first documented case of HMB-45-negative, histologically classic LAM. Because of the presence of several atypical features in this case, such as age, location, compressive neurologic presentation, radiologic impression of atypical sarcoma, and HMB-45 negativity, we feel that this case may represent a distinct, as yet uncharacterized variant of LAM.
SourceAvailable from: Paolo Spagnolo[Show abstract] [Hide abstract]
ABSTRACT: Lymphangioleiomyomatosis (LAM) is a rare lung disease affecting almost exclusively young women, characterised by abnormal proliferation of atypical smooth muscle cells. We describe a young woman presenting with chyluria secondary to the presence of a large retroperitoneal lymphangioleiomyoma. Immunohistochemical analysis revealed HMB45-negative LAM cells (HMB45 staining is absent only in rare cases) expressing low levels of estrogen receptors. Estrogen suppressive treatment with triptoreline, a synthetic analogue of Gn-RH, resulted in dramatic reduction of the retroperitoneal mass size. The role of estrogens in the pathogenesis of LAM remains poorly understood, and hormonal therapy is still debated, but this case suggests that at least in some LAM patients, possibly those with HMB45-negative disease and estrogen receptor expression, hormonal therapy may be effective in controlling the disease process.10/2011; 6(5):313-7. DOI:10.1186/2049-6958-6-5-313
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ABSTRACT: Lymphangioleiomyomatosis (LAM), a multisystem disease affecting almost exclusively women, is characterized by cystic lung destruction and presents with dyspnea, recurrent pneumothoraxes, chylous effusions, lymphangioleiomyomas, and angiomyolipomas. It is caused by the proliferation of a cancer-like LAM cell that possesses a mutation in either the tuberous sclerosis complex (TSC)1 or TSC2 genes. This article reviews current therapies and new potential treatments that are currently undergoing investigation. The major development in the treatment of LAM is the discovery of two mammalian target of rapamycin (mTOR) inhibitors, sirolimus and everolimus, as effective drugs. However, inhibition of mTOR increases autophagy, which may lead to enhanced LAM cell survival. Use of autophagy inhibitors, for example, hydroxychloroquine, in combination with sirolimus is now the subject of an ongoing drug trial (SAIL trial). Another consequence of mTOR inhibition by sirolimus is an increase in Rho activity, resulting in reduced programmed cell death. From these data, the concept evolved that a combination of sirolimus with disruption of Rho activity with statins (e.g. simvastatin) may increase TSC-null cell death and reduce LAM cell survival. A combined trial of sirolimus with simvastatin is under investigation (SOS trial). Since LAM occurs primarily in women and TSC-null cell survival and tumor growth is promoted by estrogens, the inhibition of aromatase to block estrogen synthesis is currently undergoing study (TRAIL trial). Other targets, for example, estrogen receptors, mitogen-activated protein kinase inhibitors, vascular endothelial growth factor-D signaling pathway, and Src kinase, are also being studied in experimental model systems. As in the case of cancer, combination therapy may become the treatment of choice for LAM.
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ABSTRACT: Lymphangioleiomyoma (LAM) is a rare benign tumor characterized by a disorganized smooth muscle cell proliferation within the walls of pulmonary, mediastinal, and retroperitoneal lymphatic vessels. The mesenteric LAM is a quite unusual presentation. A 47-year-old woman was admitted to our hospital with a 7-year history of abdominal mass. A computed tomography showed a well marginated mass with soft tissue attenuation. Laparoscopic excision was performed. The specimen revealed a well circumscribed dark cystic mass. The cut surface showed a thin walled cystic tumor with haphazardly distributed trabeculated septa. Microscopically, the tumor showed variable sized ectatic spaces lined by flattened endothelial cells and surrounded by epithelioid or spindle-shaped cells. The lining cells were positive for D2-40, CD31, and CD34. The surrounding cells were positive for alpha-smooth muscle actin and human melanoma black-45. The final diagnosis was a solitary LAM arising in the mesentery. The patient showed an uneventful postoperative course for 10 months.Basic and Applied Pathology 03/2011; 4(2):63 - 65. DOI:10.1111/j.1755-9294.2011.01097.x