Low-grade Schwann cell neoplasms with leptomeningeal dissemination: clinicopathologic and autopsy findings.
Leptomeningeal dissemination of low-grade Schwann cell neoplasms is an exceptionally rare occurrence and has not been well documented in the literature. We encountered 2 cases of leptomeningeal dissemination of low-grade Schwann cell neoplasms. Patient 1 was a 63-year-old woman with neurofibromatosis type 1 and a progressive low-grade malignant peripheral nerve sheath tumor developing from a diffuse/plexiform orbital neurofibroma that arose in childhood. The neoplasm demonstrated local and leptomeningeal dissemination intracranially leading to the patient's death. There was partial loss of H3K27 tri-methylation, p16 and collagen IV. Patient 2 was a 60-year-old man without neurofibromatosis type 1 who presented with cranial nerve symptoms and a disseminated neoplasm with a Schwann cell phenotype. The neoplasm stabilized after irradiation and chemotherapy, but the patient died of medical complications. Autopsy findings documented disseminated leptomeningeal disease in the intracranial and spinal compartment. H3K27M tri-methylation was preserved. The clinicopathologic and autopsy findings are studied and presented, and the literature is reviewed.
Departments of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21231.
Erika F
EF
Rodriguez
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21231; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21231.
Jaishri
J
Blakeley
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21231.
Shannon
S
Langmead
Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD 21231.
Alessandro
A
Olivi
Department of Plastic and Reconstructive Surgery, Johns Hopkins University School of Medicine, Baltimore, MD 21231.
Anthony
A
Tufaro
Departments of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21231.
Abeer
A
Tabbarah
Department of Internal Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21231.
Gail
G
Berkenblit
Department of Plastic and Reconstructive Surgery, Johns Hopkins University School of Medicine, Baltimore, MD 21231.
Justin M
JM
Sacks
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21231.
Scott D
SD
Newsome
Departments of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21231; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21231.
Elizabeth
E
Montgomery
Departments of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21231; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21231. Electronic address: frodrig4@jhmi.edu.
Fausto J
FJ
Rodriguez
D000368:Aged; D001344:Autopsy; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics; D001706:Biopsy; D024141:Collagen Type IV / Q000032:analysis; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000032:analysis; D019175:DNA Methylation; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging; D008297:Male; D008577:Meningeal Neoplasms / Q000737:chemistry / Q000235:genetics / Q000556:secondary*; D008875:Middle Aged; D060787:Neoplasm Grading; D009442:Neurilemmoma / Q000737:chemistry / Q000235:genetics / Q000556:secondary*; D009456:Neurofibromatosis 1 / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D010641:Phenotype; D012583:Schwann Cells / Q000737:chemistry / Q000473:pathology*; D016896:Treatment Outcome
D014408:Biomarkers, Tumor; C000614131:CDKN2A protein, human; D024141:Collagen Type IV; D019941:Cyclin-Dependent Kinase Inhibitor p16
MPNST; NF1; Neurofibroma; Neurofibromatosis; Schwann cell; Schwannoma
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