Diagnostic management of occult nodal lymphangioleiomyomatosis detected during pelvic cancer staging. Localized finding or systemic disease?
Adenocarcinoma, Mucinous
/ genetics
Adult
Biopsy
Female
Genetic Predisposition to Disease
Germ-Line Mutation
Humans
Lymph Nodes
/ pathology
Lymphangioleiomyomatosis
/ genetics
Middle Aged
Neoplasm Staging
Phenotype
Predictive Value of Tests
Tuberous Sclerosis Complex 2 Protein
/ genetics
Uterine Cervical Neoplasms
/ genetics
extrapulmonary lymphangioleiomyomatosis
pelvic cancer
pulmonary lymphangioleiomyomatosis
tuberous sclerosis complex
Journal
Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG
ISSN: 2532-179X
Titre abrégé: Sarcoidosis Vasc Diffuse Lung Dis
Pays: Italy
ID NLM: 9610928
Informations de publication
Date de publication:
2019
2019
Historique:
received:
19
02
2018
accepted:
19
06
2018
entrez:
2
6
2020
pubmed:
1
1
2019
medline:
1
7
2020
Statut:
ppublish
Résumé
Lymphangioleiomyomatosis (LAM) is a neoplastic disease that generally arises in the lung (pLAM) and may be associated with "Tuberous sclerosis complex" (TSC). Occasionally, LAM can arise at the extrapulmonary sites (eLAM), such as the mediastinum, the retroperitoneum or the lymph nodes. 25-30% of the patients affected by pLAM develop eLAM. In asymptomatic patients, the presence of mediastinal and retroperitoneal eLAM preceded that of pLAM by usually 1-2 years. Nevertheless, some authors reported that the nodal eLAM, detected during pelvic cancer staging, arise in patents without pLAM and/or TSC. In this paper we review the Literature of this rare condition suggesting its diagnostic management. To date, it has been reported 30 cases. The mean age at diagnosis is 55 years and around 30% of patients are postmenopausal. In only 2 cases was diagnosed a following p-LAM. One patient with endometrioid carcinoma and pelvic nodal eLAM reported The retrospective probability to have p-LAM in patients with staging pelvic nodal e-LAM is 6,6% (4/30) lower than the probability to have e-LAM in patients affected by p-LAM (25-30%). In both this association is more probable sporadically than associated with TSC. The association between cancer staging pelvic nodal e-LAM and TSC is low (3%; 1/30). The p-LAM developed are asymptomatic with a behavior, regardless of hormonal status, similar to lesions diagnosed in postmenopausal although further studies are mandatory to confirm it.
Sections du résumé
BACKGROUND
BACKGROUND
Lymphangioleiomyomatosis (LAM) is a neoplastic disease that generally arises in the lung (pLAM) and may be associated with "Tuberous sclerosis complex" (TSC). Occasionally, LAM can arise at the extrapulmonary sites (eLAM), such as the mediastinum, the retroperitoneum or the lymph nodes. 25-30% of the patients affected by pLAM develop eLAM. In asymptomatic patients, the presence of mediastinal and retroperitoneal eLAM preceded that of pLAM by usually 1-2 years. Nevertheless, some authors reported that the nodal eLAM, detected during pelvic cancer staging, arise in patents without pLAM and/or TSC. In this paper we review the Literature of this rare condition suggesting its diagnostic management.
RESULTS
RESULTS
To date, it has been reported 30 cases. The mean age at diagnosis is 55 years and around 30% of patients are postmenopausal. In only 2 cases was diagnosed a following p-LAM. One patient with endometrioid carcinoma and pelvic nodal eLAM reported
CONCLUSIONS
CONCLUSIONS
The retrospective probability to have p-LAM in patients with staging pelvic nodal e-LAM is 6,6% (4/30) lower than the probability to have e-LAM in patients affected by p-LAM (25-30%). In both this association is more probable sporadically than associated with TSC. The association between cancer staging pelvic nodal e-LAM and TSC is low (3%; 1/30). The p-LAM developed are asymptomatic with a behavior, regardless of hormonal status, similar to lesions diagnosed in postmenopausal although further studies are mandatory to confirm it.
Identifiants
pubmed: 32476934
doi: 10.36141/svdld.v36i1.7110
pii: SVDLD-36-33
pmc: PMC7247108
doi:
Substances chimiques
TSC2 protein, human
0
Tuberous Sclerosis Complex 2 Protein
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Pagination
33-38Informations de copyright
Copyright: © 2019.
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