RT Book, Section
A1 Kristof, Arnold S.
A1 Moss, Joel
A2 Grippi, Michael A.
A2 Antin-Ozerkis, Danielle E.
A2 Dela Cruz, Charles S.
A2 Kotloff, Robert M.
A2 Kotton, Camille Nelson
A2 Pack, Allan I.
SR Print(0)
ID 1195006429
T1 Pulmonary Lymphangioleiomyomatosis
T2 Fishman’s Pulmonary Diseases and Disorders, 6e
YR 2023
FD 2023
PB McGraw-Hill Education
PP New York, NY
SN 9781260473988
LK accessmedicine.mhmedical.com/content.aspx?aid=1195006429
RD 2024/04/19
AB Lymphangioleiomyomatosis  (LAM)  is  a  multisystem  disorder,  predominantly  affecting  women,  that  is  characterized  by  cystic  lung  lesions,  abdominal  angiomyolipomas  (AMLs),  and  lymphatic  abnormalities.  These  pathologic  features  are  caused  by  the  proliferation  of  a  neoplastic  smooth  muscle–like  LAM  cell  that  also  has  characteristics  of  immature  melanocytes.1  Inherited  and  sporadic  forms  of  LAM  have  been  described.  Sporadic  LAM  is  caused  by  somatic  mutations  primarily  of  the  tuberous  sclerosis  complex  (TSC)  2  (TSC2)  gene,  presumably  occurring  in  a  “cell  of  origin.”2–4  Single  cell  sequencing  of  LAM  lung  lesions  suggest  that  LAM  cells  may  arise  in  the  uterus.5  LAM  can  also  occur  in  about  one-third  of  patients  with  TSC,  an  autosomal-dominant  disorder  that  occurs  in  1  of  6000  live  births,  and  results  from  germline  mutations  in  the  TSC1  or  TSC2  genes  leading  to  widespread  hamartomatous  tumors  in  several  organs  including  the  brain,  heart,  skin,  kidney,  eyes,  lung,  and  liver.6–8