Pediatric Neurology 52 (2015) 130e131
Contents lists available at ScienceDirect
Pediatric Neurology journal homepage: www.elsevier.com/locate/pnu
Visual Diagnosis
Primary Intraventricular Central Nervous System Rhabdomyosarcoma Kavya I. Rao MD a, Denise M. Malicki MD, PhD b, c, John R. Crawford MD MS b, d, e, * a
University of California School of Medicine, San Diego, California Rady Children’s Hospital San Diego, San Diego, California c Department of Pathology, University of California San Diego, San Diego, California d Department of Neurosciences, University of California San Diego, San Diego, California e Department of Pediatrics, University of California San Diego, San Diego, California b
A 10-year-old girl presented with a one week of headache and vomiting. Neurological examination revealed a wide-based ataxic gait. Computed tomography demon-
strated an intraventricular mass with obstructive hydrocephalus (Fig 1A). The mass revealed reduced diffusivity and homogeneous enhancement on magnetic resonance
FIGURE 1. Neuroimaging features of primary central nervous system intraventricular rhabdomyosarcoma (A) Noncontrast computed tomography demonstrates an intraventricular mass with obstructive hydrocephalus. (B and C) Magnetic resonance imaging (MRI) reveals reduced diffusivity on diffusion-weighted and apparent diffusion coefficient sequences. (D and E) Pregadolinium and postgadolinium MRI reveal homogeneous tumor enhancement. * Communications should be addressed to: Dr. Crawford; Division of Child Neurology, Rady Children’s Hospital San Diego; 3020 Children’s Way MC5009; San Diego, California 92123. E-mail address: [email protected] 0887-8994/$ - see front matter Ó 2015 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.pediatrneurol.2014.08.007
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FIGURE 2. Neuropathological features of primary central nervous system intraventricular rhabdomyosarcoma hematoxylin and eosinestained tumor at 1000 magnification reveals large, pleomorphic, polygonal cells with prominent nucleoli (A) with positive myogenin staining by immunohistochemistry (B), consistent with a diagnosis of rhabdomyosarcoma. (The color version of this figure is available in the online edition.)
imaging (Fig 1B-E). She underwent gross total resection of the tumor. Pathology demonstrated a malignant tumor characterized by densely cellular sheets of large eccentrically placed vesicular nuclei, brisk mitotic activity, and rare cytoplasmic cross-striations. Immunohistochemistry was positive for INI-1, myogenin, myoD1, and desmin and negative for GFAP, synaptophysin, keratin, EMA, CD99, SMA, LCA, PLAP, chromogranin, and MPO, consistent with a diagnosis of embryonal rhabdomyosarcoma (Fig 2). Cerebrospinal fluid was positive for metastatic disease at presentation, but metastatic imaging evaluation and bone marrow biopsy were negative. She was treated with high-dose systemic and intrathecal chemotherapy, but unfortunately she developed a diffuse leptomeningeal relapse during chemotherapy that was unresponsive to high-dose craniospinal radiation and the patient died 9 months after initial diagnosis. Rhabdomyosarcoma represents less than 5% of childhood tumors, and extracranial rhabdomyosarcoma carries a favorable prognosis with a 70% 5-year survival in children with localized disease. In contrast, fewer than 40 patients with primary central nervous system (CNS) rhabdomyosarcoma have been reported in the literature,1 and there are few instances of survival 24 months after diagnosis. Mean survival is 8-10 months.2-4 Individuals who survived 24 months after diagnosis were treated with surgical
resection, radiation, and chemotherapy (vincristine, actinomycin-D, and/or cyclophosphamide with either methotrexate alone or combined with cytarabine).2 Primary CNS rhabdomyosarcoma in children is most commonly observed in the posterior fossa.3 These tumors are well differentiated, consisting of rhabdomyoblasts, embryonal cells, and mature striated muscle that are negative for GFAP but positive for myoglobin by immunohistochemistry.4 This child expands the differential diagnosis of primary intraventricular tumors in young children to include primary CNS rhabdomyosarcoma. References 1. Dropcho EJ, Allen JC. Primary intracranial rhabdomyosarcoma: case report and review of the literature. J Neurooncol. 1987;5:139-150. 2. Guilcher GM, Hendson G, Goddard K, Steinbok P, Bond M. Successful treatment of a child with a primary intracranial rhabdomyosarcoma with chemotherapy and radiation therapy. J Neurooncol. 2008;86: 79-82. 3. Tomei G, Grimoldi N, Cappricci E, et al. Primary intracranial rhabdomyosarcoma: report of two cases. Childs Nerv Syst. 1989;5: 246-249. 4. Taratuto AL, Molina HA, Diez B, Zúccaro G, Monges J. Primary rhabdomyosarcoma of brain and cerebellum. Report of four cases in infants: an immunohistochemical study. Acta Neuropathol. 1985;66: 98-104.
Contents lists available at ScienceDirect
Pediatric Neurology journal homepage: www.elsevier.com/locate/pnu
Visual Diagnosis
Primary Intraventricular Central Nervous System Rhabdomyosarcoma Kavya I. Rao MD a, Denise M. Malicki MD, PhD b, c, John R. Crawford MD MS b, d, e, * a
University of California School of Medicine, San Diego, California Rady Children’s Hospital San Diego, San Diego, California c Department of Pathology, University of California San Diego, San Diego, California d Department of Neurosciences, University of California San Diego, San Diego, California e Department of Pediatrics, University of California San Diego, San Diego, California b
A 10-year-old girl presented with a one week of headache and vomiting. Neurological examination revealed a wide-based ataxic gait. Computed tomography demon-
strated an intraventricular mass with obstructive hydrocephalus (Fig 1A). The mass revealed reduced diffusivity and homogeneous enhancement on magnetic resonance
FIGURE 1. Neuroimaging features of primary central nervous system intraventricular rhabdomyosarcoma (A) Noncontrast computed tomography demonstrates an intraventricular mass with obstructive hydrocephalus. (B and C) Magnetic resonance imaging (MRI) reveals reduced diffusivity on diffusion-weighted and apparent diffusion coefficient sequences. (D and E) Pregadolinium and postgadolinium MRI reveal homogeneous tumor enhancement. * Communications should be addressed to: Dr. Crawford; Division of Child Neurology, Rady Children’s Hospital San Diego; 3020 Children’s Way MC5009; San Diego, California 92123. E-mail address: [email protected] 0887-8994/$ - see front matter Ó 2015 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.pediatrneurol.2014.08.007
K.I. Rao et al. / Pediatric Neurology 52 (2015) 130e131
131
FIGURE 2. Neuropathological features of primary central nervous system intraventricular rhabdomyosarcoma hematoxylin and eosinestained tumor at 1000 magnification reveals large, pleomorphic, polygonal cells with prominent nucleoli (A) with positive myogenin staining by immunohistochemistry (B), consistent with a diagnosis of rhabdomyosarcoma. (The color version of this figure is available in the online edition.)
imaging (Fig 1B-E). She underwent gross total resection of the tumor. Pathology demonstrated a malignant tumor characterized by densely cellular sheets of large eccentrically placed vesicular nuclei, brisk mitotic activity, and rare cytoplasmic cross-striations. Immunohistochemistry was positive for INI-1, myogenin, myoD1, and desmin and negative for GFAP, synaptophysin, keratin, EMA, CD99, SMA, LCA, PLAP, chromogranin, and MPO, consistent with a diagnosis of embryonal rhabdomyosarcoma (Fig 2). Cerebrospinal fluid was positive for metastatic disease at presentation, but metastatic imaging evaluation and bone marrow biopsy were negative. She was treated with high-dose systemic and intrathecal chemotherapy, but unfortunately she developed a diffuse leptomeningeal relapse during chemotherapy that was unresponsive to high-dose craniospinal radiation and the patient died 9 months after initial diagnosis. Rhabdomyosarcoma represents less than 5% of childhood tumors, and extracranial rhabdomyosarcoma carries a favorable prognosis with a 70% 5-year survival in children with localized disease. In contrast, fewer than 40 patients with primary central nervous system (CNS) rhabdomyosarcoma have been reported in the literature,1 and there are few instances of survival 24 months after diagnosis. Mean survival is 8-10 months.2-4 Individuals who survived 24 months after diagnosis were treated with surgical
resection, radiation, and chemotherapy (vincristine, actinomycin-D, and/or cyclophosphamide with either methotrexate alone or combined with cytarabine).2 Primary CNS rhabdomyosarcoma in children is most commonly observed in the posterior fossa.3 These tumors are well differentiated, consisting of rhabdomyoblasts, embryonal cells, and mature striated muscle that are negative for GFAP but positive for myoglobin by immunohistochemistry.4 This child expands the differential diagnosis of primary intraventricular tumors in young children to include primary CNS rhabdomyosarcoma. References 1. Dropcho EJ, Allen JC. Primary intracranial rhabdomyosarcoma: case report and review of the literature. J Neurooncol. 1987;5:139-150. 2. Guilcher GM, Hendson G, Goddard K, Steinbok P, Bond M. Successful treatment of a child with a primary intracranial rhabdomyosarcoma with chemotherapy and radiation therapy. J Neurooncol. 2008;86: 79-82. 3. Tomei G, Grimoldi N, Cappricci E, et al. Primary intracranial rhabdomyosarcoma: report of two cases. Childs Nerv Syst. 1989;5: 246-249. 4. Taratuto AL, Molina HA, Diez B, Zúccaro G, Monges J. Primary rhabdomyosarcoma of brain and cerebellum. Report of four cases in infants: an immunohistochemical study. Acta Neuropathol. 1985;66: 98-104.
