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Lymphangioleiomyomatosis (LAM) is a cystic lung disease found almost exclusively in genetic females and caused by small clusters of smooth muscle cell tumors containing mutations in one of the two tuberous sclerosis genes (TSC1 or TSC2). Significant advances over the past 2-3 decades have allowed researchers and clinicians to more clearly understand the pathophysiology of LAM, and therefore better diagnose and treat patients with this disease. Despite substantial progress, only one proven treatment for LAM is used in practice: mechanistic target of rapamycin complex 1 (mTORC1) inhibition with medications such as sirolimus. While mTORC1 inhibition effectively slows LAM progression in many patients, it is not curative, is not effective in all patients, and can be associated with significant side effects. Furthermore, the presence of established and accurate biomarkers to follow LAM progression is limited. That said, discovering additional diagnostic and treatment options for LAM is paramount. This review will describe recent advances in LAM research, centering on the origin and nature of the LAM cell, the role of estrogen in LAM progression, the significance of melanocytic marker expression in LAM cells, and the potential roles of the microenvironment in promoting LAM tumor growth. By appreciating these processes in more detail, researchers and caregivers may be afforded novel approaches to aid in the treatment of patients with LAM. [ABSTRACT FROM AUTHOR]

SOX10 is a transcription factor that plays an important role in the formation, specification and differentiation of neural crest cells. Recent studies indicate that this protein is expressed in tumors of the nervous system, salivary glands, breast, soft tissues and melanoma cells. Due to its higher sensitivity and specificity in comparison to other available markers, SOX10 protein is mainly used in the diagnosis of malignant peripheral nerve sheet tumor and primary and metastatic melanoma including desmoplastic type. SOX10 has a more readable immunohistochemical staining, which also facilitates histopathological interpretation. Several monoclonal and polyclonal antibodies for diagnostics are currently available. Unification of anti-SOX10 antibodies to increase specificity, eliminate variability and strength of immunohistochemical reactions will support its diagnostic usefulness. [ABSTRACT FROM AUTHOR]