A Rare Cause of Headache and Increased Intracranial Pressure: Primary Leptomeningeal Melanomatosis

Tekatas, Aslan; Gemici, Yağmur İnalkaç; Tuncel, Sedat Alpaslan; Çağlı, Bekir; Tastekin, Ebru; Ünlü, Ercüment; Çelik, Yahya

doi:10.4274/tnd.26122

Cited by 2 publications

(5 citation statements)

References 8 publications

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“…The fact that the diagnosis could not be established with biopsy is quite rare. Tekataş et al repeated biopsy to confirm diagnosis [4]. Our patient was not given any chemotherapy.…”

Section: Discussionmentioning

confidence: 92%

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Primary diffuse meningeal melanomatosis – a rare form of meningeal melanoma: case report

2019

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BackgroundMeningeal melanomatosis is a rare type of central nervous system neoplasm (with incidence ranging between 3 and 5%) that develops in the course of malignant melanoma. In a small percentage of cases, meningeal melanomatosis may develop without a primary focus. It affects the leptomeninx. The clinical activity of the disease is uncharacteristic, with a number of neurological symptoms developing over weeks or months.Case presentationA 45-year-old male patient presented with consciousness disturbance, cognitive dysfunctions, seizures and progressive paresis. None of the examinations performed, including cerebrospinal fluid examination, neuroimaging and biopsy of the leptomeninges, permitted us to establish a diagnosis during the patient’s hospital stay. The diagnosis of meningeal melanomatosis was established after an autopsy had been carried out.ConclusionsIn the absence of unequivocal test results, it is also worth taking into account the primary changes in the leptomeninx, including those caused by melanoma.

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“…The fact that the diagnosis could not be established with biopsy is quite rare. Tekataş et al repeated biopsy to confirm diagnosis [4]. Our patient was not given any chemotherapy.…”

Section: Discussionmentioning

confidence: 92%

“…To date, the incidence of this disease has been reported to be 0.005 in 100,000 people. Meningeal melanomatosis is classified as a rare disease [4]. Therapeutic failure is mainly associated with the lack of quick diagnosis and thus with the lack of effective treatment.…”

Section: Discussionmentioning

confidence: 99%

Primary diffuse meningeal melanomatosis – a rare form of meningeal melanoma: case report

2019

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“…We identified 26 cases [ 9 , 10 , 11 , 12 , 13 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 ] by screening EMBASE and PubMed for leptomeningeal melanomatosis, which provided sufficient information to be reliably classified as PDLMM. The main reason for exclusion were nodular lesions suggestive of primary CNS melanoma, or low mitotic frequency and lack of atypia and invasion signs indicative of primary leptomeningeal melanocytosis ( Supplementary Materials Figure S1 ).…”

Section: Resultsmentioning

confidence: 99%

“…Despite the possibility of CSF analysis, histopathological analysis of tumor tissue is an essential component of establishing the diagnosis of PDLMM. The diffuse growth pattern constitutes a limiting factor in acquiring representative and sufficient tissue samples, leading to false negative biopsies in some cases [ 9 , 10 ]. It is, therefore, inevitable to identify the optimal site for biopsy beforehand using adequate imaging technologies.…”

Section: Discussionmentioning

confidence: 99%

“…The definitive diagnosis needs to be confirmed by histopathological tissue analysis. This often proves to be difficult due to the risk of obtaining false negative biopsies, on one hand, and inaccurate classification, on the other hand [ 9 , 10 ]. Pathologically, PDLMC and PDLMM are characterized by variably shaped tumor cells comprising round, ovoid, cuboidal, or spindle shaped forms, spread across the leptomeninges.…”

Section: Introductionmentioning

confidence: 99%

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Novel Insights into Diagnosis, Biology and Treatment of Primary Diffuse Leptomeningeal Melanomatosis

Baumgartner

Stepien

Mayr

et al. 2021

JPM

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Primary diffuse leptomeningeal melanomatosis (PDLMM) is an extremely rare and aggressive cancer type for which best treatment strategies remain to be elucidated. Herein, we present current and prospective diagnostic strategies and treatment management of PDLMM. Against the background of an extensive literature review of published PDLMM cases and currently employed therapeutic strategies, we present an illustrative case of a pediatric patient suffering from PDLMM. We report the first case of a pediatric patient with PDLMM who received combination treatment including trametinib and everolimus, followed by intravenous nivolumab and ipilimumab with concomitant intensive intraventricular chemotherapy, resulting in temporary significant clinical improvement and overall survival of 7 months. Following this clinical experience, we performed a comprehensive literature review, identifying 26 additional cases. By these means, we provide insight into current knowledge on clinical and molecular characteristics of PDLMM. Analysis of these cases revealed that the unspecific clinical presentation, such as unrecognized increased intracranial pressure (present in 67%), is a frequent reason for the delay in diagnosis. Mortality remains substantial despite diverse therapeutic approaches with a median overall survival of 4 months from diagnosis. On the molecular level, to date, the only oncogenic driver reported so far is mutation of NRAS (n = 3), underlining a close biological relation to malignant melanoma and neurocutaneous melanosis. We further show, for the first time, that this somatic mutation can be exploited for cerebrospinal fluid liquid biopsy detection, revealing a novel potential biomarker for diagnosis and monitoring of PDLMM. Last, we use a unique patient derived PDLMM cell model to provide first insights into in vitro drug sensitivities. In summary, we provide future diagnostic and therapeutic guidance for PDLMM and first insights into the use of liquid biopsy and in vitro models for this orphan cancer type.

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A Rare Cause of Headache and Increased Intracranial Pressure: Primary Leptomeningeal Melanomatosis

Cited by 2 publications

References 8 publications

Primary diffuse meningeal melanomatosis – a rare form of meningeal melanoma: case report

Primary diffuse meningeal melanomatosis – a rare form of meningeal melanoma: case report

Novel Insights into Diagnosis, Biology and Treatment of Primary Diffuse Leptomeningeal Melanomatosis

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