Sporadic lymphangioleiomyomatosis

Case contributed by Dr Liz Silverstone

Presentation

Acute on chronic dyspnea. Recurrent left pneumothoraces.

Patient Data

Age: 35 years
Gender: Female

Left pneumothorax and large-volume lungs due to advanced cystic-lung disease. The innumerable scattered cysts have thin or imperceptible walls and the remaining lung parenchyma appears normal. No nodules.

Large left renal angiomyolipoma with large blood vessels.

No free fluid, lymphadenopathy or lymphangiomas.

Normal heart and bones. 

Lung pathology report:

Right lower lobe bulla MACROSCOPIC Labeled "right lower lobe", the specimen consists of a portion of lung, 38g in fixed weight, 80x60x20mm. There is a staple line present along one side and an area of pleural disruption, 15x10mm which is inked blue. The staple line is inked green after removal of the staples. On sectioning through the lung a pleural bulla up to 25mm in diameter is seen. The remainder of the lung shows spongy appearance and the pleural surface is smooth and glistening. Block 1A to 1C- section through the bulla; 1D to 1H- representative sections of the lung. [LK] MICROSCOPIC "Right lower lobe". Sections of lung show features of pulmonary lymphangioleiomyomatosis (PLAM) There is a large pleural bulla which is composed of an overlying mesothelial reaction and lined by fibrous and alveolar tissue with occasional small nodules of spindle cells. Deep within the remaining lung parenchyma there are smaller parenchymal cysts which contain within their walls variable sized nodules consisting of spindle cells that are arranged in both parallel as well as disorganized manner and exhibit bland nuclear features. The cells are strongly positive for HMB45, estrogen receptor and progesterone receptor with focal staining for smooth muscle actin. D240 immunoperoxidase stain highlights the presence of small vascular structures surrounding some of the spindle cell aggregates. Immunoperoxidase stains for Desmin performed on three blocks show strong positive staining for lesional cells, in keeping with pulmonary lymphangioleiomyomatosis. The lung parenchyma between the cystic structures is essentially unremarkable and there is no evidence of atypia, dysplasia or malignancy. No organisms are identified and no granulomas are seen. COMMENT: These features are in keeping with the known history of pulmonary lymphangioleiomyomatosis. There is no evidence of malignancy and no organisms or active inflammation are identified within the sampled lung parenchyma. SUMMARY "Right lower lobe": Features in keeping with pulmonary lymphangioleiomyomatosis. No evidence of malignancy or infection. 

Case Discussion

Typical pulmonary lymphangioleiomyomatosis and vascular renal angiomyolipoma which was subsequently embolized to prevent hemorrhagic complications.

Left Video-Assisted Thoracoscopic Surgery (VATS)  pleurodesis prevented further pneumothoraces. A lung bulla was resected at the same time and the pathology was diagnostic of pulmonary lymphangioleiomyomatosis making her eligible for everolimus treatment. 

Sporadic lymphangioleiomyomatosis can be considered a forme fruste of tuberous sclerosis complex manifesting primarily as cystic lung disease. HMB45 is positive in both conditions (and also in melanoma).

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