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Review
. 2021 Feb;42(1):35-39.
doi: 10.1007/s00292-020-00901-w. Epub 2021 Jan 8.

[Pulmonary lymphangioleiomyomatosis (LAM)]

[Article in German]
D Theegarten  1 , T Hager  2
Affiliations
Review

[Pulmonary lymphangioleiomyomatosis (LAM)]

[Article in German]
D Theegarten et al. Pathologe. 2021 Feb.

Erratum in

Abstract
in English, German

Lymphangioleiomyomatosis (LAM) is a rare lung disease that mostly occurs in female patients. A total of 200-400 people are assumed to be infected in Germany. A sporadic form and a form associated with the tuberous sclerosis complex (TSC) can be separated. Mutations of the TSC‑1 and TSC‑2 genes are relevant. Morphologically, pulmonary multicysts and marginal micronodal proliferations of LAM cells are characteristic. Combinations with renal angiomyolipoma are typical and, in cases with TSC glioma, facial angiofibroma and ungual fibroma are seen. Prognosis is favorable (10-year survival: 80%) and with the use of mTORC1 inhibitors it could be improved. Lung transplantation can be considered in some cases.

Die Pulmonale Lymphangioleiomyomatose (LAM) ist eine seltene Lungenerkrankung, die fast ausschließlich bei Frauen auftritt. Insgesamt wird in Deutschland von 200–400 Erkrankten ausgegangen. Unterschieden werden eine sporadische und eine mit dem Tuberöse-Sklerose-Komplex (TSC) assoziierte Form, denen Mutationen des TSC1- bzw. TSC2- Gens zugrunde liegen. Charakteristisch sind pulmonale Multizysten und randständige mikronodale Proliferate aus LAM-Zellen. Typisch sind Kombinationen mit renalen Angiomyolipomen und beim TSC auch mit Gliomen, fazialen Angiofibromen und ungualen Fibromen. Die Prognose ist relativ günstig (10-Jahres-Überlebensrate: 80 %). Durch den Einsatz von mTORC1-Inhibitoren konnte diese deutlich verbessert werden. Im Einzelfall kommt eine Lungentransplantation in Betracht.

Keywords: Lymphangioleiomyomatosis; Renal angiomyolipoma; TSC1 gene; TSC2 gene; Tuberous sclerosis.

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References

Literatur

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