{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T16:03:23Z","timestamp":1790352203964,"version":"4.1.0"},"reference-count":45,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T00:00:00Z","timestamp":1761177600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Lhermitte\u2013Duclos disease (LDD) is a rare dysplastic cerebellar gangliocytoma often associated with Cowden syndrome and phosphatase and tensin homolog (PTEN) alterations. We report a three-case series focusing on imaging, histopathology, PTEN testing, surgical decision-making, and outcomes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>We retrospectively identified three adults with LDD who underwent standardized preoperative imaging [including magnetic resonance spectroscopy (MRS) and perfusion when feasible], surgery, and structured follow-up with\u00a0Karnofsky Performance Status (KPS). PTEN assessment included immunohistochemistry and\/or genetic testing where available.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>All patients in this case series were women (18\u201353 years). Two underwent subtotal resection and one underwent gross total resection. Characteristic \u201ctiger-striped\u201d magnetic resonance imaging (MRI) appearance was present in all cases. Histopathology showed thickened molecular layer, loss of Purkinje cells, and hypertrophic ganglion-like neurons. One patient required unplanned posterior fossa decompression due to severe postoperative edema. At 6 months, two patients improved functionally while one had poor neurological outcome. PTEN testing supported the association with PTEN hamartoma tumor syndrome in one case.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>PTEN evaluation should be considered in adults with LDD, especially when clinical features suggest Cowden syndrome. Surgical management should balance extent of resection with preservation of venous outflow and cerebellar function. Non-surgical strategies [observation, stereotactic radiotherapy, and exploratory mechanistic target of rapamycin (mTOR) inhibition] may be an option in selected scenarios.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Limitations<\/jats:title>\n                    <jats:p>This single-center retrospective series is limited by its small sample size and variable follow-up imaging.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fonc.2025.1552495","type":"journal-article","created":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T04:13:22Z","timestamp":1761192802000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Case Report: A case series of Lhermitte\u2013Duclos disease with surgical intervention"],"prefix":"10.3389","volume":"15","author":[{"given":"Ziyang","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingke","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guili","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianzhi","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hainan","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baijie","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lirong","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linbo","family":"Cai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Ouyang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanfeng","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2025,10,23]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.221979","article-title":"Lhermitte-Duclos disease","volume":"307","author":"Lakhani","year":"2023","journal-title":"Radiology"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.11477\/mf.1436204404","article-title":"Dysplastic cerebellar gangliocytoma(Lhermitte-Duclos disease)","volume":"49","author":"Okamoto","year":"2021","journal-title":"No Shinkei Geka"},{"key":"B3","doi-asserted-by":"publisher","first-page":"296","DOI":"10.25259\/SNI_325_2023","article-title":"A young female of Cowden syndrome presenting with Lhermitte-Duclos disease: An illustrative case","volume":"14","author":"Al-Noman","year":"2023","journal-title":"Surg Neurol Int"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1016\/j.crad.2022.08.134","article-title":"Diverse imaging findings of Lhermitte-Duclos disease","volume":"78","author":"Han","year":"2023","journal-title":"Clin Radiol"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-020-04785-2","article-title":"Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) presenting as a prenatally heterotopic hamartoma","volume":"37","author":"Puiseux","year":"2021","journal-title":"Childs Nerv Syst"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1080\/02688697.2022.2106354","article-title":"Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma) in the setting of cowden syndrome: a case report and literature review on COLD syndrome","volume":"38","author":"McMahon","year":"2022","journal-title":"Br J Neurosurg"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2020.10.011","article-title":"Lhermitte-Duclos disease at an initial stage: Case report","volume":"177","author":"Chourafa","year":"2021","journal-title":"Rev Neurol (Paris)"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1159\/000514335","article-title":"Lhermitte-Duclos disease in pediatric population: report of 2 cases","volume":"56","author":"Preguntegui-Loayza","year":"2021","journal-title":"Pediatr Neurosurg"},{"key":"B9","doi-asserted-by":"publisher","first-page":"e99","DOI":"10.1097\/RLU.0000000000004382","article-title":"Lhermitte-duclos disease related With Cowden syndrome mimicking metastatic lung cancer on FDG PET\/CT","volume":"48","author":"Kesim","year":"2023","journal-title":"Clin Nucl Med"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-023-06039-3","article-title":"Lhermitte-Duclos disease with concomitant KCNT2 gene mutation: report of an extremely rare combination","volume":"39","author":"Assi","year":"2023","journal-title":"Childs Nerv Syst"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1016\/j.radcr.2023.05.013","article-title":"Association between Cowden syndrome and Lhermitte-Duclos disease: A case report of an uncommon Genetic Hamartomatous Disorder","volume":"18","author":"Aggari","year":"2023","journal-title":"Radiol Case Rep"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1007\/s13760-022-02106-9","article-title":"Epilepsy in Cowden syndrome: beyond Lhermitte-Duclos disease","volume":"123","author":"Serodio","year":"2023","journal-title":"Acta Neurol Belg"},{"key":"B13","doi-asserted-by":"publisher","first-page":"e26947","DOI":"10.7759\/cureus.26947","article-title":"A case of medullary microcarcinoma in the setting of Cowden\u2019s syndrome","volume":"14","author":"Donato","year":"2022","journal-title":"Cureus"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.2147\/CCID.S357282","article-title":"CO(2) laser treatment of multiple oral hamartomas in Cowden\u2019s syndrome: A review and case study","volume":"15","author":"Possick","year":"2022","journal-title":"Clin Cosmet Investig Dermatol"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000209844","article-title":"Clinical neurologic features and evaluation of PTEN hamartoma tumor syndrome: A systematic review","volume":"103","author":"Dhawan","year":"2024","journal-title":"Neurology"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.52046","article-title":"Exploring the neurological features of individuals with germline PTEN variants: A multicenter study","volume":"11","author":"Dhawan","year":"2024","journal-title":"Ann Clin Transl Neurol"},{"key":"B17","doi-asserted-by":"publisher","first-page":"e36212","DOI":"10.1097\/MD.0000000000036212","article-title":"Lhermitte-Duclos disease with excessive calcification in a septuagenarian: A case report","volume":"103","author":"Su","year":"2024","journal-title":"Med (Baltimore)"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.44318","article-title":"Anesthetic management for a patient with Rosai-Dorfman disease, Cowden syndrome, and Lhermitte-Duclos disease: an extremely rare disease combination","volume":"15","author":"Weeden","year":"2023","journal-title":"Cureus"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.11817\/j.issn.1672-7347.2021.190574","article-title":"Lhermitte-Duclos disease: A case report and literature review","volume":"46","author":"Liu","year":"2021","journal-title":"Zhong Nan Da Xue Xue Bao Yi Xue Ban"},{"key":"B20","doi-asserted-by":"publisher","first-page":"1187","DOI":"10.1016\/j.mayocp.2024.02.020","article-title":"Cowden syndrome-oral finding","volume":"99","author":"Stantz","year":"2024","journal-title":"Mayo Clin Proc"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-23-2216","article-title":"The genomic landscape of benign and Malignant thyroid tumors from individuals carrying germline PTEN variants is distinct from sporadic thyroid cancers","volume":"84","author":"Plitt","year":"2024","journal-title":"Cancer Res"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1097\/GRF.0000000000000894","article-title":"Genetic predisposition for gynecologic cancers","volume":"67","author":"Gonzalez","year":"2024","journal-title":"Clin Obstet Gynecol"},{"key":"B23","doi-asserted-by":"publisher","first-page":"767","DOI":"10.3390\/medicina60050767","article-title":"Insights into clinical disorders in Cowden syndrome: A comprehensive review","volume":"60","author":"Pirlog","year":"2024","journal-title":"Med (Kaunas)"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1080\/02688697.2022.2106354","article-title":"Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma) in the setting of cowden syndrome: a case report and literature review on COLD syndrome","volume":"38","author":"McMahon","year":"2024","journal-title":"Br J Neurosurg"},{"key":"B25","doi-asserted-by":"publisher","DOI":"10.11405\/nisshoshi.118.462","article-title":"Pyogenic granuloma in small intestine associated with Cowden\u2019s disease in a patient with gastrointestinal bleeding:a case report","volume":"118","author":"Kataoka","year":"2021","journal-title":"Nihon Shokakibyo Gakkai Zasshi"},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.44326","article-title":"Lhermitte-Duclos disease: A case series","volume":"15","author":"Monjaras-Romo","year":"2023","journal-title":"Cureus"},{"key":"B27","doi-asserted-by":"publisher","first-page":"185","DOI":"10.25259\/SNI_302_2023","article-title":"Lhermitte-Duclos disease: A rare case of cerebellar tumor with successful surgical treatment","volume":"14","author":"Revuelta-Gutierrez","year":"2023","journal-title":"Surg Neurol Int"},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.55519\/JAMC-03-S1-9900","article-title":"Lhermitte-Duclos disease: A rare cerebellar hamartoma presenting following traumatic brain injury and A review of the literature","volume":"34","author":"Ashraf","year":"2022","journal-title":"J Ayub Med Coll Abbottabad"},{"key":"B29","doi-asserted-by":"publisher","DOI":"10.1038\/s41380-023-02325-3","article-title":"Germline PTEN genotype-dependent phenotypic divergence during the early neural developmental process of forebrain organoids","volume":"29","author":"Kang","year":"2024","journal-title":"Mol Psychiatry"},{"key":"B30","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-024-05922-8","article-title":"Imaging findings of children with PTEN-related hamartoma tumor syndrome: a 20-year multicentric pediatric cohort","volume":"54","author":"Martinez-Rios","year":"2024","journal-title":"Pediatr Radiol"},{"key":"B31","doi-asserted-by":"publisher","DOI":"10.1177\/10668969231215816","article-title":"Lhermitte-Duclos disease: A rare entity with typical histology but ambiguous histogenesis","volume":"32","author":"Rajeswarie","year":"2023","journal-title":"Int J Surg Pathol"},{"key":"B32","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-24-1947","article-title":"Update on pediatric surveillance recommendations for PTEN hamartoma tumor syndrome, DICER1-related tumor predisposition, and tuberous sclerosis complex","volume":"31","author":"Schultz","year":"2025","journal-title":"Clin Cancer Res"},{"key":"B33","doi-asserted-by":"publisher","first-page":"351","DOI":"10.25259\/SNI_555_2023","article-title":"Lhermitte-Duclos disease: A systematic review","volume":"14","author":"Alanazi","year":"2023","journal-title":"Surg Neurol Int"},{"key":"B34","doi-asserted-by":"publisher","DOI":"10.1017\/cjn.2022.42","article-title":"Paresthesias and weakness of lower limbs as symptomatic debut of Lhermitte-Duclos disease","volume":"50","author":"Perez-Sanchez","year":"2023","journal-title":"Can J Neurol Sci"},{"key":"B35","doi-asserted-by":"publisher","DOI":"10.25259\/JNRP-2022-3-10","article-title":"Lhermitte-Duclos disease: A series of six cases","volume":"14","author":"Kolhe","year":"2023","journal-title":"J Neurosci Rural Pract"},{"key":"B36","doi-asserted-by":"publisher","DOI":"10.1177\/10668969231215816","article-title":"Lhermitte-Duclos disease: A rare entity with typical histology but ambiguous histogenesis","volume":"32","author":"Rajeswarie","year":"2024","journal-title":"Int J Surg Pathol"},{"key":"B37","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000209984","article-title":"Teaching neuroImage: tigroid appearance of cerebellum on MRI in Lhermitte-Duclos disease","volume":"103","author":"Dkhil","year":"2024","journal-title":"Neurology"},{"key":"B38","doi-asserted-by":"publisher","first-page":"e28667","DOI":"10.1097\/MD.0000000000028667","article-title":"MR imaging features of Lhermitte-Duclos disease: Case reports and literature review","volume":"101","author":"Zhang","year":"2022","journal-title":"Med (Baltimore)"},{"key":"B39","doi-asserted-by":"publisher","first-page":"e7","DOI":"10.1016\/j.biopsych.2023.01.016","article-title":"Recovery from psychotic disorder: A surgical case with Lhermitte-Duclos disease","volume":"94","author":"Guo","year":"2023","journal-title":"Biol Psychiatry"},{"key":"B40","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.31381","article-title":"Subacute posterior inferior cerebellar artery stroke radiographically mimicking Lhermitte-Duclos disease","volume":"14","author":"Mehkri","year":"2022","journal-title":"Cureus"},{"key":"B41","doi-asserted-by":"publisher","first-page":"386","DOI":"10.25259\/SNI_613_2020","article-title":"Papillary tumor of the pineal region: Is stereotactic radiosurgery efficient for this rare entity","volume":"12","author":"Bechri","year":"2021","journal-title":"Surg Neurol Int"},{"key":"B42","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2007.07.008","article-title":"Genetic causes of brain tumors: neurofibromatosis, tuberous sclerosis, von Hippel-Lindau, and other syndromes","volume":"25","author":"Farrell","year":"2007","journal-title":"Neurol Clin"},{"key":"B43","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1007\/s12311-025-01835-w","article-title":"A rare case of Lhermitte Duclos disease associated with somatic PTEN and germline SUFU variants","volume":"24","author":"Gungor","year":"2025","journal-title":"Cerebellum"},{"key":"B44","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/64.4.341","article-title":"Lhermitte-Duclos disease: a report of 31 cases with immunohistochemical analysis of the PTEN\/AKT\/mTOR pathway","volume":"64","author":"Abel","year":"2005","journal-title":"J Neuropathol Exp Neurol"},{"key":"B45","doi-asserted-by":"publisher","DOI":"10.1177\/0883073816681340","article-title":"Infantile Lhermitte-Duclos disease treated successfully with rapamycin","volume":"32","author":"Zak","year":"2017","journal-title":"J Child Neurol"}],"container-title":["Frontiers in Oncology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2025.1552495\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T04:13:28Z","timestamp":1761192808000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2025.1552495\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,23]]},"references-count":45,"alternative-id":["10.3389\/fonc.2025.1552495"],"URL":"https:\/\/doi.org\/10.3389\/fonc.2025.1552495","relation":{},"ISSN":["2234-943X"],"issn-type":[{"value":"2234-943X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,23]]},"article-number":"1552495"}}