NRASQ61K mutated primary leptomeningeal melanoma in a child: case presentation and discussion on clinical and diagnostic implications

Autor: Laura Lancella, Felice Giangaspero, Daniela Longo, Angela Mastronuzzi, Laura Scarciolla, Marco Gessi, Maria Debora De Pasquale, Antonio Marrazzo, Annalisa Serra, Manila Antonelli, Luigi De Sio, Giulia Angelino, Andrea Carai, Laura Menchini, Rita De Vito, Luca Massimi
Jazyk: angličtina
Rok vydání: 2016
Předmět:
Neuroblastoma RAS viral oncogene homolog
Cancer Research
medicine.medical_specialty
Pathology
Case Report
Settore MED/03 - GENETICA MEDICA
Tuberculous meningitis
GTP Phosphohydrolases
Diagnosis
Differential
03 medical and health sciences
0302 clinical medicine
NRAS Q61K mutation
Fatal Outcome
Surgical oncology
Diagnosis
Biopsy
Genetics
medicine
Meningeal Neoplasms
Humans
Meningeal Neoplasm
NRAS inhibitors
Child
Preschool
Neoplastic meningitis
Children
Melanoma
medicine.diagnostic_test
business.industry
Membrane Proteins
medicine.disease
Magnetic Resonance Imaging
Primary leptomeningeal melanoma
Child
Preschool
Female
Mutation
Oncology
children
primary leptomeningeal melanoma
tuberculous meningitis
oncology
cancer research
genetics
030220 oncology & carcinogenesis
Differential
Radiology
Differential diagnosis
business
030217 neurology & neurosurgery
Zdroj: BMC Cancer
ISSN: 1471-2407
Popis: Background Primary melanocytic neoplasms are rare in the pediatric age. Among them, the pattern of neoplastic meningitis represents a peculiar diagnostic challenge since neuroradiological features may be subtle and cerebrospinal fluid analysis may not be informative. Clinical misdiagnosis of neoplastic meningitis with tuberculous meningitis has been described in few pediatric cases, leading to a significant delay in appropriate management of patients. We describe the case of a child with primary leptomeningeal melanoma (LMM) that was initially misdiagnosed with tuberculous meningitis. We review the clinical and molecular aspects of LMM and discuss on clinical and diagnostic implications. Case presentation A 27-month-old girl with a 1-week history of vomiting with mild intermittent strabismus underwent Magnetic Resonance Imaging, showing diffuse brainstem and spinal leptomeningeal enhancement. Cerebrospinal fluid analysis was unremarkable. Antitubercular treatment was started without any improvement. A spinal intradural biopsy was suggestive for primary leptomeningeal melanomatosis. Chemotherapy was started, but general clinical conditions progressively worsened and patient died 11 months after diagnosis. Molecular investigations were performed post-mortem on tumor tissue and revealed absence of BRAFV600E, GNAQQ209 and GNA11Q209 mutations but the presence of a NRASQ61K mutation. Conclusions Our case adds some information to the limited experience of the literature, confirming the presence of the NRASQ61K mutation in children with melanomatosis. To our knowledge, this is the first case of leptomeningeal melanocytic neoplasms (LMN) without associated skin lesions to harbor this mutation. Isolated LMN presentation might be insidious, mimicking tuberculous meningitis, and should be suspected if no definite diagnosis is possible or if antitubercular treatment does not result in dramatic clinical improvement. Leptomeningeal biopsy should be considered, not only to confirm diagnosis of LMN but also to study molecular profile. Further molecular profiling and preclinical models will be pivotal in testing combination of target therapy to treat this challenging disease.
Databáze: OpenAIRE
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