Original
Identification of t(1;19)(q12;p13) and ploidy changes in an ependymosarcoma: a cytogenetic evaluation
Abeer Z. Tabbarah, Austin W. Carlson, Angelica Oviedo, Rhett P. Ketterling and Fausto J. Rodriguez
Volume 31 p. 142 - 145
Abstract
Clinical Neuropathology, Vol. 31 – No. 3/2012 (142-145)
Identification of t(1;19)(q12;p13) and ploidy changes in an ependymosarcoma: a cytogenetic evaluation
Abeer Z. Tabbarah, Austin W. Carlson, Angelica Oviedo, Rhett P. Ketterling and Fausto J. Rodriguez
1Department of Pathology, George Washington University, Washington, D.C., 2Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA, 3Children’s and Women’s Health Centre of BC Anatomic Pathology, Vancouver, British Columbia, Canada and 4Department of Pathology, Johns Hopkins University, Baltimore, MD, USA
Gliosarcoma, a recognized subtype of glioblastoma, is a biphasic tumor exhibiting distinct glial and sarcomatous components. Ependymosarcomas are rarer, biphasic ependymal tumors exhibiting sarcomatous change. Genetic abnormalities associated with this curious phenotype are not well understood. We are presenting the first karyotype of ependymosarcoma with identification of a clonal t(1;19)(q12;p13). Fluorescence in situ hybridization (FISH) was performed with a probe set targeting 1q23 and 19p13.3. Although the tumor did not show evidence of t(1;19)(q23;p13.3) by FISH, increased ploidy was a feature of the sarcomatous component. On clinical followup the patient is doing well without evidence of recurrence 55 months after initial resection, and postoperative treatment with irradiation and temozolomide. The significance of the genetic alterations we describe associated with sarcomatoid change in ependymal neoplasms, and ultimately their prognostic relevance, merits further study.Correspondence to:
Fausto J. Rodriguez, MD
Department of Pathology
Division of Neuropathology
Johns Hopkins University
720 Rutland Avenue – Ross Building – 512B
Baltimore, MD 21205, USA
Email: [email protected]
Original
IgA/Kappa-restricted crystal storing histiocytosis involving the central nervous system characterized by proteomic analysis
Brent A. Orr, Gary L. Gallia, Ahmet Dogan and Fausto J. Rodriguez
Volume 33 p. 23 - 28
Abstract
IgA/Kappa-restricted crystal storing histiocytosis involving the central nervous system characterized by proteomic analysis
Brent A. Orr1, Gary L. Gallia2, Ahmet Dogan3, and Fausto J. Rodriguez4
1Department of Pathology, St. Jude Children’s Research Hospital, Memphis, TN, 2Department of Neurosurgery, The Johns Hopkins School of Medicine, Baltimore, MD, 3Department of Pathology and Laboratory Medicine, Mayo Clinic, Rochester, MN, and 4Department of Pathology, The Johns Hopkins School of Medicine, Baltimore, MD, USA
Crystal storing histiocytosis (CSH) is a rare disorder characterized by the accumulation of crystalline material in the cytoplasm of histiocytes. Involvement of the central nervous system (CNS) with CSH is extremely rare. Herein, we report a case of crystal storing histiocytosis involving the CNS. Using immunohistochemistry and mass spectrometry we demonstrate that the disease resulted from an IgA-κ restricted plasma cell dyscrasia. CNS-CSH represents a rare clinicopathologic entity with an indolent course, usually lacking systemic manifestations.Correspondence to:
Brent A. Orr MD, PhD
Department of Pathology
St. Jude Children’s Research Hospital
262 Danny Thomas Place, Memphis, TN 38105-3678, USA
Email: [email protected]
Original
Pleomorphic xanthoastrocytoma: report of two cases with unconventional clinical presentations
M. Adelita Vizcaíno, Dario V. Caccamo, Ellen Fox, and Fausto J. Rodriguez
Volume 33 p. 380 - 387
Abstract
Clinical Neuropathology, Vol. 33 – No. 6/2014 (380-387)
Pleomorphic xanthoastrocytoma: report of two cases with unconventional clinical presentations
M. Adelita Vizcaíno1, Dario V. Caccamo2, Ellen Fox3, and Fausto J. Rodriguez4,5
1Department of Celular and Tissue Biology, Universidad Nacional Autónoma de México (UNAM), Mexico City, Mexico, 2Department of Laboratory Medicine, Mercy General Hospital, Sacramento, CA, 3Capital Health Medical Center, Pennington, NJ, 4Division of Neuropathology, and 5Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, MD, USA
Aims: Pleomorphic xanthoastrocytoma (PXA) is a rare astrocytic neoplasm with a relative circumscribed architecture that typically arises superficially in the cerebral hemispheres of teenagers and young adults. Our aim is to highlight unconventional clinical presentations of this distinct neoplasm. Materials and methods: We report two cases of PXA with unconventional clinical features, including clinical, pathologic, and immunohistochemical features. Results: The first case developed in the left frontal lobe of a 20-year-old female with neurofibromatosis type 1 (NF1). Focal anaplastic features were present. The neoplastic cells were immunoreactive for GFAP, S-100 protein and focally for synaptophysin, with a MIB-1/Ki-67 proliferative labelling index of 16%. The second case developed in a 39-year-old female as a suprasellar neoplasm. The neoplastic cells expressed GFAP, S-100 protein and focally CD34. The adenohypophysis was positive for synaptophysin and pituicytes for TTF1. Molecular studies were negative for BRAF (V600E) mutation in both cases. Conclusion: PXA is a distinct circumscribed neoplasm that may present in unexpected locations or clinical backgrounds. Neuropathologists must be aware of these unconventional presentations in order to provide a precise diagnosis leading to appropriate treatment.Correspondence to:
Fausto J. Rodriguez, MD
Department of Pathology, Division of Neuropathology
Johns Hopkins Hospital
Sheikh Zayed Tower, Room M2101
1800 Orleans Street, Baltimore, MD 21231, USA
Email: [email protected]
Original
Intracranial solitary fibrous tumor/ hemangiopericytoma with osteoclast-like multinucleated giant cells: comparison with giant cell-rich solitary fibrous tumor
M. Adelita Vizcaíno, Justin Bishop, Rajni Sharma, Karim Refaey, Alfredo Quiñones-Hinojosa, and Fausto J. Rodriguez
Volume 35 p. 171 - 177
Abstract
Clinical Neuropathology, Vol. 35 – No. 4/2016 (171-177)
Intracranial solitary fibrous tumor/ hemangiopericytoma with osteoclast-like multinucleated giant cells: comparison with giant cell-rich solitary fibrous tumor
M. Adelita Vizcaíno1#2, Justin Bishop2#4, Rajni Sharma2, Karim Refaey3, Alfredo Quiñones-Hinojosa3#4, and Fausto J. Rodriguez2#4
1Department of Cellular and Tissue Biology, Universidad Nacional Autónoma de México (UNAM), Mexico City, Mexico, 2Departments of Pathology, 3Neurosurgery, and 4Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Aims: Intracranial solitary fibrous tumor/hemangiopericytoma (SFT/HPC) is a mesenchymal neoplasm that typically presents in adults as a dural-based lesion. The presence of giant cells in these tumors is a rare occurrence. Materials and methods: We studied a case of intracranial SFT/HPC with unusual multinucleated, osteoclast-like giant cells and compared it to the so-called giant cell angiofibroma (i.e., giant cell-rich solitary fibrous tumor) withattention to STAT6 immunohistochemistry. Results: A 73-year-old man developed a right frontoparietal dural mass that was completely resected. Histology demonstrated a hypercellular neoplasm consisting of spindle to oval cells and scattered osteoclast-like multinucleated giant cells (MGCs), with distinctive “staghorn” blood vessels. Necrosis and brisk mitotic activity were present. The spindle cell component showed strong focal CD34 and nuclear STAT6 immunohistochemical labeling, while CD68 and CD163 were positive in MGCs. No nuclear STAT6 reactivity was detected in MGCs. By contrast, nuclear STAT6 staining was present in three cases of giant cell angiofibroma (i.e., giant-cell rich solitary fibrous tumor), both in the spindle cell component and MGCs. Conclusion: Intracranial SFT/HPC is characterized by nuclear STAT6 immunoreactivity as its soft tissue counterparts. The presence of osteoclast-like MGCs is an unusual finding in this neoplasm, which is distinct from giant cell-rich solitary fibrous tumor.Correspondence to:
Fausto J. Rodriguez, MD
Department of Pathology
Division of Neuropathology
Johns Hopkins Hospital
Sheikh Zayed Tower, Room M2101
1800 Orleans Street, Baltimore, MD 21231, USA
Email: [email protected]
Original
Cystic endosalpingiosis of lumbar nerve root: a unique presentation
Valeria Barresi, Debra Barns, Raymond Grundmeyer III, Fausto J. Rodriguez
Volume 36 (2017) p. 108 - 113
Abstract
Clinical Neuropathology, Vol. 36 – No. 3/2017 (108-113)
Cystic endosalpingiosis of lumbar nerve root: a unique presentation
Valeria Barresi1#2, Debra Barns3, Raymond Grundmeyer III4, Fausto J. Rodriguez2
1Department of Human Pathology, University of Messina, Italy, 2Division of Neuropathology, Johns Hopkins University School of Medicine, Baltimore, MD, 3Kansas Pathology Consultants, and 4Kansas Spine and Specialty Hospital,
L.L., Wichita, KS, USA
Aims: Endosalpingiosis is a non-neoplastic condition characterized by the presence of ciliated epithelium, resembling tubal epithelium, in heterotopic locations. Its presence has been reported in several anatomical sites in the pelvic, abdominal, and thoracic cavities. Herein we report a rare case of endosalpingiosis presenting as a cystic mass with spinal nerve root attachment. Methods: Clinical history was obtained through review of medical records. The surgical specimen was formalin fixed and paraffin embedded for histological evaluation with hematoxylin and eosin stain and immunohistochemistry. Results: The patient complained of worsening lumbar back pain that started several years before. Magnetic resonance imaging documented the presence of an intradural mass at L1 – 2. Histological appearance showed a cyst lined by a simple epithelium with ciliated, columnar, and intercalated cells, and immunohistochemistry was positive for keratins, EMA, estrogen, and progesterone receptors, PAX8 and WT1. GFAP and S100 were negative. Ki67 labeling index was low. Conclusion: Endosalpingiosis may rarely involve lumbar nerve roots and must be distinguished from a variety of more common cysts and neoplasms. In view of its potential for neoplastic transformation, recognition of endosalpingiosis may be important in cases with incomplete surgical resection.
Correspondence to:
Valeria Barresi, MD, PhD
Department of Human Pathology
University of Messina, A.O.U. “Policlinico G. Martino” – Pad. D
Via Consolare Valeria, 98125 Messina, Italy
Email: [email protected]
Original
Cerebral pleomorphic liposarcoma: Clinicopathologic findings
Dora Verdugo, Lysandra Voltaggio, Andrew Hoot, and Fausto J. Rodriguez
Volume 38 (2019) p. 233 - 237
Abstract
Clinical Neuropathology, Vol. 38 – No. 5/2019 (233-237)
Cerebral pleomorphic liposarcoma: Clinicopathologic findings
Dora Verdugo1#3, Lysandra Voltaggio1, Andrew Hoot4, and Fausto J. Rodriguez1#2
1Department of Pathology, 2Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA, 3Department of Pathology, Universidad Juarez, Durango, Mexico, and 4Amarillo Pathology Associates, Amarillo, TX, USA
Pleomorphic liposarcoma is the rarest subtype of liposarcoma. Involvement of the central nervous system by pleomorphic liposarcoma is exceptional. We present a 62-year-old woman with an intraparenchymal mass involving the left frontoparietal lobes. Histologic examination demonstrated a mesenchymal neoplasm with a dense reticulin network and pleomorphic lipoblasts. Immunohistochemical stain for adipophilin highlighted intracytoplasmic vacuoles. MDM2 immunostain was negative. A diagnosis of pleomorphic liposarcoma was made. There was no evidence of an extracranial primary neoplasm by imaging or physical exam. Pleomorphic liposarcoma may rarely present as a solitary intracranial mass, an entity that must be entertained in the differential diagnosis of pleomorphic tumors involving the brain.
Correspondence to:
Fausto J. Rodriguez
Johns Hopkins University School of Medicine
Sheikh Zayed Tower, Room M2101
1800 Orleans Street, Baltimore, MD 21231, USA
Email: [email protected]
Original
TSC2 alterations in anaplastic ependymoma progression to ependymosarcoma
Elisabet Pujadas, Liam Chen, Jon D. Weingart, Brent Orr, Bryam H. Ozer, Matthias Holdhoff, and Fausto J. Rodriguez
Price
42.00 $
Volume 39 (2020) p. 179 - 187
Abstract
Clinical Neuropathology, Vol. 39 – No. 4/2020 (179-187)
TSC2 alterations in anaplastic ependymoma progression to ependymosarcoma
Elisabet Pujadas1#6, Liam Chen1, Jon D. Weingart3#4, Brent Orr5, Bryam H. Ozer7, Matthias Holdhoff3#4, and Fausto J. Rodriguez1#2#4
Departments of 1Pathology, 2Ophthalmology, 3Neurosurgery, and the 4Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, 5Department of Pathology, St. Jude Children’s Research Hospital, Memphis, TN, 6Department of Pathology, Mount Sinai Hospital, New York, NY, and 7Sibley Memorial Hospital, Washington, DC, USA
Ependymosarcomas are rare, biphasic tumors composed of ependymal and sarcomatous components. Due to their rarity, their biologic basis is not well understood. We report the case of a 38-year-old male with anaplastic ependymoma (WHO grade III) that progressed to ependymosarcoma in less than 2 years after multiple resections, chemoradiotherapy, and anti-PD1 immunotherapy. Next-generation sequencing was performed on both high-grade anaplastic ependymoma and ependymosarcoma samples to detect small base changes, insertions, and deletions in exons and splice junctions from a panel of over 400 genes. We identify genetic variants in the tumor suppressors RB1, TP53, and TSC2 in these samples and discuss the potential significance of an additional TSC2 genetic variant in the progression to ependymosarcoma.Correspondence to:
Fausto J. Rodriguez
Johns Hopkins University School of Medicine
Sheikh Zayed Tower, Room M2101
1800 Orleans Street, Baltimore, MD 21231, USA
Email: [email protected]
Original
Intraneural perineurioma in neurofibromatosis type 2 with molecular analysis
Bartholomew White, Allan Belzberg, Shivani Ahlawat, Jaishri Blakeley, and Fausto J. Rodriguez
Price
42.00 $
Volume 39 (2020) p. 167 - 171
Abstract
Clinical Neuropathology, Vol. 39 – No. 4/2020 (167-170)
Intraneural perineurioma in neurofibromatosis type 2 with molecular analysis
Bartholomew White1, Allan Belzberg2, Shivani Ahlawat3, Jaishri Blakeley4#6, and Fausto J. Rodriguez1#5#6
Department of 1Pathology, 2Neurosurgery, 3Radiology and Radiological Science, 4Neurology, 5Ophthalmology, and the 6Sydney Kimmel Comprehensive Cancer Center, Johns Hopkins Hospital, Baltimore, MD, USA
Intraneural perineuriomas are rare benign neoplasms. The gene associated with neurofibromatosis 2 (NF2) is located on chromosome 22q12, and mutations in NF2 are commonly seen in soft tissue perineuriomas. However, an association between NF2 mutations and intraneural perineuriomas (INPs) has not been well established. We present a 20-year-old male with NF2, multiple schwannomas and an intraneural perineurioma in the radial nerve at the spiral groove. Sequencing of NF2, SMARCB1, and LZTR1 was performed and demonstrated loss of the long arm of chromosome 22 including NF2, SMARCB1, and LZTR1, and a constitutional NF2:c.(-4577_-854)_(45-185)del alteration. We review the literature supporting two mutually exclusive pathways involving NF2 and TRAF7 mutations that lead to the development of INPs.Correspondence to:
Fausto J. Rodriguez, MD
Johns Hopkins University School of Medicine
Sheikh Zayed Tower, Room M2101
1800 Orleans Street, Baltimore, MD 21231, USA
Email: [email protected]
