Localized retroperitoneal Lymphangioleiomyomatosis mimicking malignancy - A case report and review of the literature

Department of Pathology, University of Texas Southwestern Medical Center, Dallas 75390-9073, USA.
Archives of pathology & laboratory medicine (Impact Factor: 2.84). 08/2003; 127(7):879-82. DOI: 10.1043/1543-2165(2003)127<879:LRLMM>2.0.CO;2
Source: PubMed


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.

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    • "In turn, the estrogen-ER interaction drives matrix metalloproteinase (MMP)-2 and -9 synthesis and activation in LAMD-SM, thus leading to tissue invasion and destruction [11]. HMB-45negative spindle cells have been shown to possess a high proliferating-cell nuclear antigen expression and have been implicated in the progression of LAM [19]. The HMB-45-negative LAM cell occurrence is rare and we hypothesize that HMB-45negative LAM may represent a distinct disease phenotype, more aggressive but highly responsive to hormonal therapy. "
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    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.
    Full-text · Article · Oct 2011
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    • "Recently, Jaiswal et al. (6) reviewed 32 extrapulmonary LAM cases, including 22 cases of extrapulmonary LAM reported by Matsui et al. (3). Among the reported cases of clinically significant extrapulmonary LAM, 14 cases occurred in the lower retroperitoneum or pelvic cavity (3, 4, 6). Most extrapulmonary LAM lesions occurred in lymph nodes along the lymphatic vessels of the posterior mediastinum, retroperitoneum, and the pelvic cavity. "
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    ABSTRACT: Lymphangioleiomyomatosis (LAM) is a rare disease usually occurring in young women of child-bearing age. It is characterized by a distinctive proliferation of lymphatic smooth muscle cells, especially occurring in the pulmonary parenchyme. The majority of primary LAM occurs in the lung, but there are a few reports of extrapulmonary cases. We report a case of a 21-yr-old female who first complained of low abdominal pain and was referred from a local clinic with the impression of an ovarian cyst. Gynecologic ultrasonography revealed a large posterior pelvic mass with an irregular echogenicity measuring 9.7 x 4.2 cm in size. Pelviscopy showed a large, thin walled, partly cystic, pelvic mass. The mass was partly removed. Microscopically, the mass was characterized by a haphazard proliferation of smooth muscle cells arranged in fascicular, trabecular, and papillary patterns around a ramifying network of endothelium-lined spaces. The cells were plump or epithelioid with abundant eosinophilic cytoplasm and showed a positive reaction for both alpha-smooth muscle actin and HMB-45 antigen. Surgical and pathological findings were consistent with pelvic retroperitoneal LAM. Despite the numerous treatment attempts, the patient suffered from intractable chylous ascites and developed pulmonary LAM and died due to severe respiratory distress.
    Full-text · Article · Nov 2005 · Journal of Korean Medical Science
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    ABSTRACT: The case of a 46-year-old woman with lymphangioleiomyomatosis (LAM) involving the supraclavicular, mediastinal, and pelvic lymph nodes in addition to the lungs is reported. Computed tomography incidentally revealed multiple thin-walled pulmonary cysts and low-attenuating masses in the supraclavicular, mediastinal, and retroperitoneal lymph nodes. A biopsy of the supraclavicular mass was performed and diagnosed as LAM histopathologically. The common sites of extrapulmonary LAM include retroperitoneal and mediastinal lymph nodes; however, supraclavicular lymph node involvement is extremely rare.
    No preview · Article · Mar 2006 · Journal of Computer Assisted Tomography
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