Leptomeningeal dissemination as a first sign of progression in metastatic melanoma: a diagnostic lesson.
Journal
Melanoma research
ISSN: 1473-5636
Titre abrégé: Melanoma Res
Pays: England
ID NLM: 9109623
Informations de publication
Date de publication:
01 02 2022
01 02 2022
Historique:
pubmed:
27
10
2021
medline:
24
3
2022
entrez:
26
10
2021
Statut:
ppublish
Résumé
One of the most serious complications of advanced melanoma is the diffusion of cancer cells to the central nervous system. The diagnosis of leptomeningeal metastasis (LMM) is notoriously challenging and requires a combination of consistent MRI and cerebrospinal fluid (CSF) cytology. In ambiguous cases, mutations like BRAF V600E in CSF-cell-free (cf)DNA may help to clarify diagnosis of LMM. Here we present the case of a young woman who developed isolated LMM after the diagnosis of a node-positive primary melanoma with normal LDH. The CSF was negative for tumour cells by cytology but positive for cfDNA BRAF V600E mutation, thus allowing us to diagnose LMM. To our knowledge, this is the first case where CSF sampling for the detection of BRAF mutation was used to identify leptomeningeal disease in the presence of negative MRI and without involvement of any other distant sites.
Identifiants
pubmed: 34698702
doi: 10.1097/CMR.0000000000000786
pii: 00008390-202202000-00007
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
55-58Informations de copyright
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
Références
Smalley KS, Fedorenko IV, Kenchappa RS, Sahebjam S, Forsyth PA. Managing leptomeningeal melanoma metastases in the era of immune and targeted therapy. Int J Cancer 2016; 139:1195–1201.
Kenchappa RS, Tran N, Rao NG, Smalley KS, Gibney GT, Sondak VK, Forsyth PA. Novel treatments for melanoma brain metastases. Cancer Control 2013; 20:298–306.
Raizer JJ, Hwu WJ, Panageas KS, Wilton A, Baldwin DE, Bailey E, et al. Brain and leptomeningeal metastases from cutaneous melanoma: survival outcomes based on clinical features. Neuro Oncol 2008; 10:199–207.
Pape E, Desmedt E, Zairi F, Baranzelli MC, Dziwniel V, Dubois F, et al. Leptomeningeal metastasis in melanoma: a prospective clinical study of nine patients. In Vivo 2012; 26:1079–1086.
Kokkoris CP. Leptomeningeal carcinomatosis. How does cancer reach the pia-arachnoid? Cancer 1983; 51:154–160.
Harstad L, Hess KR, Groves MD. Prognostic factors and outcomes in patients with leptomeningeal melanomatosis. Neuro Oncol 2008; 10:1010–1018.
Le Rhun E, Taillibert S, Chamberlain MC. Carcinomatous meningitis: leptomeningeal metastases in solid tumors. Surg Neurol Int 2013; 4:S265–S288.
Glantz MJ, Cole BF, Glantz LK, Cobb J, Mills P, Lekos A, et al. Cerebrospinal fluid cytology in patients with cancer: minimizing false-negative results. Cancer 1998; 82:733–739.
Pan W, Gu W, Nagpal S, Gephart MH, Quake SR. Brain tumour mutations detected in cerebral spinal fluid. Clin Chem 2015; 61:514–522.
Murtaza M, Dawson SJ, Tsui DW, Gale D, Forshew T, Piskorz AM, et al. Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA. Nature 2013; 497:108–112.
Gershenwald JE, Scolyer RA. Melanoma staging: American Joint Committee on Cancer (AJCC) 8th Edition and Beyond. Ann Surg Oncol 2018; 25:2105–2110.
Glitza IC, Smalley KSM, Brastianos PK, Davies MA, McCutcheon I, Liu JKC, et al. Leptomeningeal disease in melanoma patients: An update to treatment, challenges, and future directions. 33:Pigment Cell Melanoma Res 2020; 527–541.
Balm M, Hammack J. Leptomeningeal carcinomatosis. Presenting features and prognostic factors. Arch Neurol 1996; 53:626–632.
Bettegowda C, Sausen M, Leary RJ, Kinde I, Wang Y, Agrawal N, et al. “Detection of circulating tumour DNA in early- and late-stage human malignancies.”. Sci Transl Med 2014; 6:224ra24.
Arasaratnam M, Hong A, Shivalingam B, Wheeler H, Guminksi AD, Long GV, Menzies AM. Leptomeningeal melanoma-A case series in the era of modern systemic therapy. Pigment Cell Melanoma Res 2018; 31:120–124.
Momtaz P, Pentsova E, Abdel-Wahab O, Diamond E, Hyman D, Merghoub T, et al. Quantification of tumor-derived cell free DNA(cfDNA) by digital PCR (DigPCR) in cerebrospinal fluid of patients with BRAFV600 mutated malignancies. Oncotarget 2016; 7:85430–85436.
Li YS, Jiang BY, Yang JJ, Zhang XC, Zhang Z, Ye JY, et al. Unique genetic profiles from cerebrospinal fluid cell-free DNA in leptomeningeal metastases of EGFR-mutant non-small-cell lung cancer: a new medium of liquid biopsy. Ann Oncol 2018; 29:945–952.
Mengxi G, Quiong Z, Zhenzhen Z, Ji X, Zhou X, Huang R, Liang X, et al. Different next-generation sequencing pipelines based detection of tumour DNA in cerebrospinal fluid of lung adenocarcinoma cancer patients with leptomeningeal metastases. BMC Cancer 2019; 19:143
Murrella J, Boardb R. The use of systemic therapies for the treatment of brain metastases in metastatic melanoma: opportunities and unanswered questions. Cancer Treat Rev 2013; 39:833–838.
Long GV, Trefzer U, Davies MA, Kefford RF, Ascierto PA, Chapman PB, et al. Dabrafenib in patients with Val600Glu or Val600Lys BRAF-mutant melanoma metastatic to the brain (BREAK-MB): a multicentre, open-label, phase 2 trial. Lancet Oncol 2012; 13:1087–1095.
Leal T, Chang JE, Mehta M, Robins HI. Leptomeningeal metastasis: challenges in diagnosis and treatment. Curr Cancer Ther Rev 2011; 7:319–327.
Ballester LY, Glitza Oliva IC, Douse DY, Chen MM, Lan C, Haydu LE, et al. Evaluating circulating tumor DNA from the cerebrospinal fluid of patients with melanoma and leptomeningeal disease. J Neuropathol Exp Neurol 2018; 77:628–635.
Sakji-Dupré L, Le Rhun E, Templier C, Desmedt E, Blanchet B, Mortier L. Cerebrospinal fluid concentrations of vemurafenib in patients treated for brain metastatic BRAF-V600 mutated melanoma. Melanoma Res 2015; 25:302–305.
Fedorenko IV, Evernden B, Kenchappa RS, Sahebjam S, Ryzhova E, Puskas J, et al. A rare case of leptomeningeal carcinomatosis in a patient with uveal melanoma: case report and review of literature. Melanoma Res 2016; 26:481–486.