Spinal ependymoma in a patient with Kabuki syndrome: a case report.
BACKGROUND
Kabuki syndrome is a rare disorder characterized by the association of mental retardation and postnatal growth deficiency with distinctive facial appearance, skeletal anomalies, cardiac and renal malformation. Two causative genes have been identified in patients with Kabuki syndrome. Mutation of KMT2D (MLL2) was identified in 55-80% of patients, while 9-14% of KMT2D negative patients have mutation in KDM6A gene. So far, few tumors have been reported in patients with Kabuki syndrome. We describe the first case of a patient with spinal ependymoma and Kabuki syndrome.


METHODS
A 23 years old girl followed at our Center for KMT2D mutated Kabuki syndrome since she was 4 years old presented with acute lumbar pain and intermittent tactile hyposthenia of the feet. Spine magnetic resonance revealed a lumbar endocanalar mass. She underwent surgical resection of the lesion and histologic examination showed a tanycytic ependymoma (WHO grade II).


CONCLUSIONS
Kabuki syndrome is not considered a cancer predisposition syndrome. Nonetheless, a number of tumors have been reported in patients with Kabuki syndrome. Spinal ependymoma is a rare disease in the pediatric and young adult population. Whereas NF2 mutations are frequently associated to ependymoma such an association has never been described in Kabuki syndrome. To our knowledge this is the first case of ependymoma in a KMT2D mutated Kabuki syndrome patient. Despite KMT2D role in cancer has previously been described, no genetic data are available for previously reported Kabuki syndrome patients with tumors. Nonetheless, the association of two rare diseases raises the suspicion for a common determinant.
University Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS - "Tor Vergata" University, Rome, Italy. davidroma.865@gmail.com.
Davide
D
Roma
Department of Neuroscience and Neurorehabilitation, Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. paolo2.palma@opbg.net.
Paolo
P
Palma
Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. rossella.capolino@opbg.net.
Rossella
R
Capolino
Department of Radiology, Unit of Neuroradiology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. lorenzo.figatalamanca@opbg.net.
Lorenzo
L
Figà-Talamanca
Department of Anatomical Pathology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. francesca.diomedi@opbg.net.
Francesca
F
Diomedi-Camassei
Cytogenetics and Molecular Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. francescaromana.lepri@opbg.net.
Francesca Romana
FR
Lepri
Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. mcristina.digilio@opbg.net.
Maria Cristina
MC
Digilio
Department of Neuroscience and Neurorehabilitation, Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. carloefisio.marras@opbg.net.
Carlo Efisio
CE
Marras
Department of Neuroscience and Neurorehabilitation, Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. raffaella.messina@opbg.net.
Raffaella
R
Messina
Department of Neuroscience and Neurorehabilitation, Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. andrea.carai@opbg.net.
Andrea
A
Carai
Department of Neuroscience and Neurorehabilitation, Neurosurgery Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. franco.randi@opbg.net.
Franco
F
Randi
Department of Hematology/Oncology and Stem Cell Transplantation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. angela.mastronuzzi@opbg.net.
Angela
A
Mastronuzzi
D000015:Abnormalities, Multiple / Q000473:pathology; D004806:Ependymoma / Q000209:etiology / Q000473:pathology*; D005145:Face / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D006402:Hematologic Diseases / Q000150:complications* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D013120:Spinal Cord Neoplasms / Q000209:etiology / Q000473:pathology* / Q000601:surgery*; D015837:Vestibular Diseases / Q000150:complications* / Q000473:pathology; D055815:Young Adult