Chordoma Occurs in Young Children With Tuberous Sclerosis.

Chordomas are rare bony neoplasms usually unassociated with a familial tumor predisposition syndrome. The peak incidence of this midline axial skeletal tumor is in adulthood but when very young children are affected, consideration should be given to occurrence within the tuberous sclerosis (TS) complex, especially when presenting in neonates <3 months of age. To call attention to this association, we present a brachyury-immunopositive chordoma occurring in the skull base of a 2-month-old male infant who was later realized to have metastases to the subcutaneous tissues and lungs, as well as rhabdomyoma of the heart and renal cysts/angiomyolipomas, that is, characteristic features of the TS complex.

Histopathologic features of intracranial vascular involvement in fibromuscular dysplasia, ehlers-danlos type IV, and neurofibromatosis I.

Nonatherosclerotic cerebrovascular arteriopathies share epidemiologic and clinical features, but few studies directly compare histologic features of the intracranial vasculature. We studied 3 adult autopsy cases of fibromuscular dysplasia in patients who died of basilar artery aneurysm rupture, vertebral artery dissection, or Moyamoya syndrome. Fibromuscular dysplasia was only identified when multiple sections (optimally of the entire circle of Willis) were examined by microscopy.

Epithelioid GBMs show a high percentage of BRAF V600E mutation.

BRAF V600E mutation has been identified in up to 2/3 of pleomorphic xanthoastrocytomas (PXAs), World Health Organization grade II, as well as in varying percentages of PXAs with anaplastic features (PXA-A), gangliogliomas, extracerebellar pilocytic astrocytomas, and, rarely, giant cell glioblastoma multiforme (GC-GBMs). GC-GBMs and epithelioid GBMs (E-GBMs) can be histologically challenging to distinguish from PXA-A. We undertook this study specifically to address whether these 2 tumor types also showed the mutation.

Angioleiomyomas of the dura: rare entities that lack KRIT1 mutations.

Angioleiomyomas (ALMs) are cutaneous and soft tissue lesions usually seen in the lower extremities of middle-aged women. The lesions are nodular, mulberry like, and composed of vessels of varying size with abundant intervening smooth muscle; an arterial component is absent. Intracranial examples are exceedingly rare, with <10 cases reported to date, and are usually dural in location.

Approach to the intraoperative consultation for neurosurgical specimens.

Intraoperative consultation remains an invaluable tool in the initial evaluation of surgically excised specimens. Good communication is required between the pathologist and surgeon to obtain the best care for their mutual patient. Intraoperative consultation (frozen section, FS) provides a preliminary diagnosis for the surgeon and aids in guiding his/her subsequent surgical approach.

Giant pituitary adenomas: pathologic-radiographic correlations and lack of role for p53 and MIB-1 labeling.

Giant pituitary adenomas, with diameter ≥4 cm, were formerly considered rare and not surgically approachable. Few United States-based series exist. We reviewed our 10-year experience with these tumors and identified 17 patients, 11 male and 6 female, aged 27 to 65 years.

Epithelioid versus rhabdoid glioblastomas are distinguished by monosomy 22 and immunohistochemical expression of INI-1 but not claudin 6.

Epithelioid and rhabdoid glioblastomas are rare entities that share some overlapping morphologic features, but remain poorly characterized at the immunohistochemical and genetic level. We report 10 examples: 8 epithelioid glioblastomas (E-GBMs) and 2 rhabdoid GBMs (R-GBMs). E-GBMs tended to be superficially located, circumscribed, supratentorial tumors composed of monotonous, discohesive sheets of small rounded cells that mimicked metastatic malignant melanoma.

Adult cases of leukoencephalopathy, cerebral calcifications, and cysts: expanding the spectrum of the disorder.

Leukoencephalopathy with cerebral calcifications and cysts (LCC) was first reported in children who developed cognitive decline and variable extrapyramidal, cerebellar, and pyramidal signs, with or without seizures. Leukoencephalopathy with cerebral calcifications and cysts is characterized by progressive formation of brain cysts that can generate a mass effect simulating a neoplasm. Retinal changes that overlap with Coats disease, a microangiopathy with retinal telangiectasias and exudates, may also occur.