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ANAPLASTIC PLEOMORPHIC XANTHOASTROCYTOMAS: A CLINICOPATHOLOGIC AND MOLECULAR PROFILE [Meeting Abstract]

Segal, Devorah; Thomas, Cheddhi; Bowman, Christopher; Kannan, Kasthuri; Wang, Shiyang; Heguy, Adriana; Liechty, Benjamin; Jones, David TW; Hovestadt, Volker; Pfister, Stefan M; Karajannis, Matthias; Snuderl, Matija
ISI:000398604103008
ISSN: 1523-5866
CID: 2545142

MIDBRAIN GLIOMAS: A LARGE SERIES THAT IDENTIFIES FEATURES CORRESPONDING WITH OUTCOME [Meeting Abstract]

Segal, Devorah; Rao, Harini; Thomas, Cheddhi; Cohen, Benjamin; Snuderl, Matija; Karajannis, Matthias; Allen, Jeffrey
ISI:000398604103102
ISSN: 1523-5866
CID: 2545152

Utility of MRI versus tumor markers for post-treatment surveillance of marker-positive CNS germ cell tumors

Cheung, Victoria; Segal, Devorah; Gardner, Sharon L; Zagzag, David; Wisoff, Jeffrey H; Allen, Jeffrey C; Karajannis, Matthias A
Patients with marker-positive central nervous system (CNS) germ cell tumors are typically monitored for tumor recurrence with both tumor markers (AFP and b-hCG) and MRI. We hypothesize that the recurrence of these tumors will always be accompanied by an elevation in tumor markers, and that surveillance MRI may not be necessary. We retrospectively identified 28 patients with CNS germ cell tumors treated at our institution that presented with an elevated serum or cerebrospinal fluid (CSF) tumor marker at the time of diagnosis. We then identified those who had a tumor recurrence after having been in remission and whether each recurrence was detected via MRI changes, elevated tumor markers, or both. Four patients suffered a tumor recurrence. Only one patient had simultaneously elevated tumor markers and MRI evidence of recurrence. Two patients had evidence of recurrence on MRI without corresponding elevations in serum or CSF tumor markers. One patient had abnormal tumor markers with no evidence of recurrence on MRI until 6 months later. We conclude that in patients with marker-positive CNS germ cell tumors who achieve complete remission, continued surveillance imaging in addition to measurement of tumor markers is indicated to detect recurrences.
PMID: 27406584
ISSN: 1573-7373
CID: 2180172

Pediatric Brain Tumors: An Update

Segal, Devorah; Karajannis, Matthias A
Brain tumors collectively represent the most common solid tumors in childhood and account for significant morbidity and mortality. Until recently, pediatric brain tumors were diagnosed and classified solely based on histologic criteria, and treatments were chosen empirically. Recent research has greatly enhanced our understanding of the diverse biology of pediatric brain tumors, their molecular and genetic underpinnings, leading to improved diagnostic accuracy and risk stratification, as well as the development of novel biomarkers and molecular targeted therapies. For subsets of patients, these new treatment options have already resulted in improved survival and decreased treatment toxicity. In this article, we provide an overview of the most common childhood brain tumors, describe recent key advances in the field, and discuss the therapeutic challenges that remain.
PMID: 27230809
ISSN: 1538-3199
CID: 2115152

Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome

Segal, Devorah; Heary, Robert F; Sabharwal, Sanjeev; Barry, Maureen T; Ming, Xue
The authors present the case of a child with megalencephaly-capillary malformation syndrome who developed a rapidly progressive holocord syringomyelia that was treated surgically. A 3-year-old boy with megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome presented with several months of right leg weakness, worsening scoliosis, and increased seizures. An MRI study of the brain demonstrated a Chiari I malformation and massively dilated syringomyelia extending from C-2 to the conus medullaris. The patient underwent an urgent suboccipital craniectomy with C1-3 laminectomies to relieve the CSF outflow obstruction with significant clinical improvement. Surgery was complicated by bleeding from intracranial vascular malformations. This report describes a very rapidly developing, massive holocord syringomyelia related to CSF obstruction due to an unusual congenital brain malformation and associated vascular overgrowth at the site. Serial, premorbid MRI studies demonstrated the very rapid progression from no Chiari malformation, to progressively greater cerebellar tonsillar herniation, to holocord syrinx. This complication has never been reported in MCAP syndrome and should be considered in any affected MCAP patient with a progressive neurological decline, even if previous spine imaging findings were normal. Surgical complications due to hemorrhage also need to be considered in this vascular brain malformation.
PMID: 27035547
ISSN: 1933-0715
CID: 2188622

ANAPLASTIC PLEOMORPHIC XANTHOASTROCYTOMAS: A CLINICOPATHOLOGIC AND MOLECULAR PROFILE [Meeting Abstract]

Segal, Devorah; Thomas, Cheddhi; Bowman, Christopher; Kannan, Kasthuri; Wang, Shiyang; Heguy, Adriana; Liechty, Benjamin; Jones, David; Hovestadt, Volker; Pfister, Stefan; Karajannis, Matthias; Snuderl, Matija
ISI:000379749000302
ISSN: 1523-5866
CID: 2687542

MIDBRAIN GLIOMAS: A LARGE SERIES OF CLINICALLY AND RADIOGRAPHICALLY HETEROGENEOUS TUMORS [Meeting Abstract]

Segal, Devorah; Rao, Harini; Thomas, Cheddhi; Cohen, Benjamin; Snuderl, Matija; Karajannis, Matthias; Allen, Jeffrey
ISI:000379749000370
ISSN: 1522-8517
CID: 2964232

EFFICACY OF EVEROLIMUS IN PEDIATRIC BRAIN TUMORS: A SINGLE-INSTITUTION PATIENT SERIES [Meeting Abstract]

Segal, Devorah; Gardner, Sharon; Allen, Jeffrey; Karajannis, Matthias
ISI:000379749000110
ISSN: 1522-8517
CID: 2964222

The promise of molecular profiling of choroid plexus tumors for diagnostic and prognostic stratification: where to go from here?

Segal, Devorah; Karajannis, Matthias A
PMCID:4864266
PMID: 27006174
ISSN: 1523-5866
CID: 2052112

Call-Fleming syndrome: headache in a 16-year-old girl [Case Report]

Bain, Jennifer; Segal, Devorah; Amin, Ruchi; Monoky, David; Thompson, Stephen J
BACKGROUND: Call-Fleming syndrome, also known as reversible cerebral vasoconstriction syndrome, is an important cause of severe headache characterized by segmental constriction of cerebral arteries in multiple vascular distributions. It is commonly described in adults, with a female predominance. PATIENT: We report a case of a 16-year-old girl with history of anxiety, attention deficit hyperactivity disorder, and migraines on several medications presenting with 2 weeks of worsening headaches. RESULTS: Cranial computed tomography was normal, but magnetic resonance imaging revealed cortical subarachnoid hemorrhage. Follow-up imaging demonstrated extensive vasoconstriction of small- to medium-sized cerebral arteries. Sertraline and methylphenidate were discontinued, and nifedipine was started. Symptoms rapidly improved, and repeat angiography at 2 months showed no vasoconstriction. CONCLUSIONS: Call-Fleming syndrome is an important cause of thunderclap headache and should be considered in the pediatric population, especially in the setting of certain medication usage and other known risk factors.
PMID: 23859861
ISSN: 0887-8994
CID: 1477852