Carole D. Brathwaite

Malignant glomus tumor : a case report of widespread metastases in a patient with multiple glomus body hamartomas

Glomus tumors are characteristically benign solitary tumors. A few cases of malignant glomus tumors have been reported; however, they are usually only locally invasive, and metastases are exceedingly rare. We report a case of widespread metastases of a malignant glomus tumor involving the skin, lungs, jejunum, liver, spleen, and lymph nodes in a 63-year-old man with end-stage chronic renal failure. At autopsy, multiple glomus body hamartomas were also noted throughout the dermis proximal to the skin tumors. Histologically, the tumor was composed of monotonous round cells in solid sheets and investing numerous capillary-sized vessels. Approximately four to six mitoses were present per high-power field. The tumor cells were strongly immunoreactive for actin and vimentin, and ultrastructurally there were whorls of microfilaments with focal condensations. This case is exceptional because of its aggressive course.

Diffuse leptomeningeal neuroepithelial tumor: 9 pediatric cases with chromosome 1p/19q deletion status and IDH1 (R132H) immunohistochemistry.

Leptomeningeal dissemination in children is typical of high-grade, and occasionally low-grade, neoplasms. Rare cases of widely disseminated oligodendroglia-like leptomeningeal tumors, sometimes with associated spinal cord lesions, have been described that respond to treatment and follow an indolent course. Whether these lesions represent an established tumor category or are a unique entity remains to be established. We present 9 pediatric cases of such diffuse leptomeningeal neuroepithelial tumors (DLNT), 8 with assessment of 2 common genetic alterations seen in oligodendrogliomas, 1p and 19q chromosomal deletions and isocitrate dehydrogenase-1 (IDH1) R132H mutations. Four patients were male and 5 female, with a mean age at presentation of 4 years (range, 2 to 7 y). All presented with signs of increased intracranial pressure and diffuse contrast enhancement of the leptomeninges by magnetic resonance imaging. Three had a cervical or upper thoracic spinal cord tumor, and another had a small cerebellar lesion. Leptomeningeal biopsies showed a thickened and fibrotic arachnoid infiltrated by monotonous cells with round nuclei and prominent perinuclear clearing. All cases were strongly immunoreactive for S100 protein, and most showed faint granular synaptophysin reactivity. Six of 8 cases showed deletions of chromosome arm 1p by fluorescence in situ hybridization, 2 of which also had loss of 19q. None of the lesions reacted with IDH1-R132H antibodies. Although the clinicopathologic features show overlap of these DLNT lesions with oligodendroglioma and extraventricular neurocytoma, they do not exactly match either one, suggesting that DLNTs are a distinct tumor entity.

Angiocentric Glioma-Like Tumor of the Midbrain

Angiocentric glioma, a rare brain neoplasm with features of ependymal differentiation, has only recently been recognized as a distinct clinicopathological entity. To date, all reported cases have involved tumors in the cerebral hemispheres, and the majority have presented with seizures. The authors report the case of a 5-year-old girl who presented with several cranial neuropathies and mild gait disturbance. An exophytic neoplasm arising from the posterior midbrain and causing obstructive hydrocephalus was identified, and surgical resection revealed a neoplasm with features of angiocentric glioma.

Malignant transformation of an optic pathway glioma without prior radiation therapy

Optic pathway gliomas (OPGs) arise from the optic nerves, optic chiasm, and/or hypothalamus and most commonly occur in childhood. Although these tumors can be quite challenging to manage, they are typically low-grade astrocytomas histologically, most commonly pilocytic astrocytomas. The few previously reported cases of malignant degeneration of an OPG occurred after external beam radiation therapy. The authors report the first case in the English literature of an OPG that transformed from a low-grade astrocytoma, with features most consistent with a pilocytic astrocytoma, to a malignant glioma without any exposure to radiation therapy.

Polymorphous low-grade neuroepithelial tumor of the young (PLNTY): an epileptogenic neoplasm with oligodendroglioma-like components, aberrant CD34 expression, and genetic alterations involving the MAP kinase pathway.

Epileptogenic tumors affecting children and young adults are a morphologically diverse collection of neuroepithelial neoplasms that, as a group, exhibit varying levels of glial and/or neuronal differentiation. Recent advances in molecular profiling technology, including comprehensive DNA sequencing and methylation analysis, have enabled the application of more precise and biologically relevant classification schemes to these tumors. In this report, we describe a morphologically and molecularly distinct epileptogenic neoplasm, the polymorphous low-grade neuroepithelial tumor of the young (PLNTY), which likely accounts for a sizable portion of oligodendroglioma-like tumors affecting the pediatric population. Characteristic microscopic findings most notably include infiltrative growth, the invariable presence of oligodendroglioma-like cellular components, and intense immunolabeling for cluster of differentiation 34 (CD34). Moreover, integrative molecular profiling reveals a distinct DNA methylation signature for PLNTYs, along with frequent genetic abnormalities involving either B-Raf proto-oncogene (BRAF) or fibroblast growth factor receptors 2 and 3 (FGFR2, FGFR3). These findings suggest that PLNTY represents a distinct biological entity within the larger spectrum of pediatric, low-grade neuroepithelial tumors.

Castleman’s Disease in a Child Presenting with a Partly Mineralized Solitary Meningeal Mass

We report a case of solitary intracranial childhood Castleman’s disease (CD) presenting with a sudden onset of partial seizures due to a meningeal and cortical mass lesion. The patient was a previously healthy 8-year-old girl who developed a new onset of simple partial seizures with motor signs. On physical examination, she was neurologically intact. Other findings included low-grade fever, mild microcytic anemia and lymphopenia. Magnetic resonance imaging (MRI) of the brain revealed a left posterior parietal, partly mineralized, contrast-enhancing meningeal mass with cortical invasion and adjacent white matter edema. A complete surgical resection of the dural-based component and a subtotal resection of the adherent, invasive cortical lesion were performed. Pathohistology and flow cytometry of the dural-based lesion disclosed a hyaline-vascular type of CD with striking proliferation of polyclonal B lymphocytes, scattered plasma cells and extensive multifocal cortical mineralization. At the 6-month follow-up, the patient was seizure free on antiepileptics and had returned to normal daily activities. MRI showed no residual lesion, and a workup for systemic disease was negative.

Atypical Teratoid/Rhabdoid Tumor Arising From the Third Cranial Nerve

An otherwise healthy 6-week-old girl who presented with an isolated left third cranial nerve palsy underwent MRI that revealed an enhancing mass intrinsic to the left third cranial nerve. Rapid enlargement of the lesion over 1 month led to subtotal neurosurgical resection of an atypical teratoid/rhabdoid tumor (AT/RT), a rare, highly aggressive malignancy of infancy closely related histologically to medulloblastoma and primitive neuroectodermal tumor. Despite aggressive chemotherapy, the patient died within 6 months of presentation. This is the first report of an AT/RT presenting as an isolated third cranial nerve palsy caused by tumor arising from within the nerve.

Bilateral conjunctival extranodal marginal zone B‐cell lymphoma

Extranodal marginal zone B‐cell lymphomas (EMZLs), while relatively common in adults, are rare entities in the pediatric population. A subclass of the typically aggressive non‐Hodgkin lymphomas, the few reported pediatric cases indicate that, as in adults, these tumors tend to be indolent. We present a case of EMZL arising in the conjunctivae in a 9‐year‐old male with bilateral disease. The patient was treated with surgical excision alone and has remained disease‐free 6 years after the operation. Pediatr Blood Cancer. 2010;55:1414–1416.

Obstructing apple core lesion of the rectum: A case report of inflammatory pseudotumor masquerading as colorectal carcinoma

Inflammatory pseudotumor is a rare lesion which can occur, typically in children and young adults, in many different organ systems. The tumor often clinically behaves like a cancer but without histological evidence of malignancy. This case study of a 14 year-old boy is the first report in the literature of an inflammatory pseudotumor presenting as an obstructing apple core lesion, mimicking a rectal carcinoma. A six-week course of non-steroidal, anti-inflammatory drugs (NSAIDs) led to complete resolution of the mass, and following resection of a residual stricture, the patient has been recurrence-free for seven years.

Surgical Treatment of Intramedullary Spinal Metastasis in Medulloblastoma: Case Report and Review of the Literature

BACKGROUND Medulloblastomas are common childhood central nervous system tumors that are prone to leptomeningeal spread. Intramedullary dissemination is rare with very few case reports existing in the available literature. CASE DESCRIPTION The authors here present a case of a 14-year-old boy with Li-Fraumeni syndrome and medulloblastoma who underwent surgical resection of spinal intramedullary spread. Histopathology revealed the tumor to be anaplastic medulloblastoma, same as the intracranial lesions. Genetic testing of the metastatic deposit revealed loss of functions mutations in SUFU, NOTCH3, and TP53 and TERC amplification. An improvement in ambulatory function at short-term follow-up was noted before the patient died of disseminated disease. CONCLUSIONS Intramedullary metastasis of medulloblastoma remains a rare disease. Surgical resection might play a possible role in management in addition to radiation and chemotherapy.