Heppner, Frank

Hutter, Gregor

Ingold, Barbara

Jochum, Wolfram

Landolt, Hans

Moschopulos, Michael

Röthlisberger, Benno

Seeger, Harald

Yonekawa, Yasuhiro

RERO DOC Digital Library

LETTER TO THE EDITORBarbara Ingold Æ Michael MoschopulosGregor Hutter Æ Harald Seeger Æ Benno Ro¨thlisbergerHans Landolt Æ Yasuhiro Yonekawa Æ Wolfram JochumFrank L. HeppnerAbdominal seeding of an atypical teratoid/rhabdoid tumorof the pineal gland along a ventriculoperitoneal shunt catheterReceived: 29 August 2005 / Revised: 14 September 2005 / Accepted: 14 September 2005 / Published online: 23 November 2005 Springer-Verlag 2005Atypical teratoid/rhabdoid tumor (AT/RT) is a rathernovel malignant central nervous system (CNS) neoplasmof uncertain origin, which was ﬁrst deﬁned as an entityin 1987 [5]. The vast majority of AT/RTs occur in in-fants or children below 5 years of age and only few AT/RTs in adults have been reported [3, 6]. Most AT/RTsarise in the posterior fossa, the cerebral hemispheres andthe suprasellar region, but can also occur in the spinalcord and the pineal region. In the latter, AT/RT hasbeen reported only once [10]. Histopathologically, AT/RT is composed of rhabdoid cells with or without areasof epithelial, mesenchymal and/or primitive neuroecto-dermal diﬀerentiation. Fluorescence in situ hybridiza-tion (FISH) and loss of heterozygosity studies revealeddeletions of chromosome 22 in 75–90% of AT/RTs withinactivation of the INI1/hSNF5 gene and, consequently,lack of INI1 protein expression similar to rhabdoid tu-mors of other organs such as kidney [1, 6]. Despite theaggressive treatment with surgery, chemo- and radio-therapy, AT/RTs have an unfavorable prognosis withearly recurrence and short median survival times [8].An otherwise healthy 45-year-old-woman presentedwith visual disturbances. Cranial magnetic resonanceimaging (MRI) displayed a tumor mass in the pinealregion, which was resected. Histological examinationrevealed a neoplasm with high cellularity, numerousmitotic ﬁgures and a predominantly rhabdoid appear-ance of the tumor cells (Fig. 1a, b). Immunohisto-chemical analysis revealed strong reactivity for vimentinin almost all, and focal positivity for smooth muscleactin (SMA), cytokeratins and epithelial membraneantigen (EMA) in some tumor cells (Fig. 1c–f). FISHanalysis using probes to the breakpoint cluster region(BCR) on chromosome 22q11.2 showed a single BCRsignal in tumor cells, while two signals of the ABL locuson chromosome 9 were present. This result suggesteddeletion of the INI1/hSNF5 gene, which is located closeto the BCR locus on chromosome 22q11.2 (Fig. 1h).This conclusion was supported by the loss of INI1/hSNF5 protein expression in tumor cells, whereas non-neoplastic CNS cells displayed a nuclear INI1 signal(Fig. 1g). Histological, immunohistochemical and FISHresults were consistent with the diagnosis of AT/RT,which was conﬁrmed by the Brain Tumor ReferenceCenter of the German Society of Neuropathology andNeuroanatomy.Postoperative radio- and chemotherapy wasperformed. Due to development of occlusive hydro-cephalus, a ventriculoperitoneal (VP) shunt catheter wasinserted. Six months after the initial diagnosis, the tumorrecurred locally. Gross total resection was achievedand histological and immunohistochemical analysisre-conﬁrmed the initial diagnosis of an AT/RT.One month after re-craniotomy, the patient wasadmitted to the hospital with progressive loss ofB. Ingold Æ W. JochumInstitute for Surgical Pathology, University Hospital Zurich,8091 Zurich, SwitzerlandE-mail: wolfram.jochum@usz.chTel.: +41-44-2552512Fax: +41-44-2554416M. MoschopulosInstitute of Pathology, Cantonal Hospital Aarau,5001 Aarau, SwitzerlandG. Hutter Æ H. Seeger Æ F. L. Heppner (&)Institute of Neuropathology, University Hospital Zurich,8091 Zurich, SwitzerlandE-mail: frank.heppner@usz.chTel.: +41-44-2552107Fax: +41-44-2554402B. Ro¨thlisbergerCenter of Laboratory Medicine, Cantonal Hospital Aarau,5001 Aarau, SwitzerlandH. LandoltDepartment of Neurosurgery, Cantonal Hospital Aarau,5001 Aarau, SwitzerlandY. YonekawaDepartment of Neurosurgery, University Hospital Zurich,8091 Zurich, SwitzerlandActa Neuropathol (2006) 111: 56–59DOI 10.1007/s00401-005-1112-7consciousness and a non-convulsive status epilepticus.MRI scan revealed recurrent tumor in the pineal regionwith brainstem inﬁltration and leptomeningeal dissemi-nation, while there were no tumor cells detectable in thecerebrospinal ﬂuid. The patient died 12 days later withpalliative therapy. At autopsy, tumor tissue was foundin the pineal region with inﬁltration of the third andfourth ventricles, the cerebellum, both oculomotornuclei and the mesencephalon, where an acute hemor-rhage was evident (Fig. 2a, b). Tumor cells also extendedinto Virchow-Robin spaces and leptomeninges andinﬁltrated along the cavity in which the VP shuntcatheter had been placed (Fig. 2c). Upon opening theperitoneal cavity, multiple intra-abdominal tumornodules in liver, spleen and on the peritoneal surfacewere found (Fig. 2d). Histological, immunohistochemi-cal and genetic analyses of the metastases revealed anidentical pheno- and genotypic pattern as for theprimary CNS tumor, indicative of a metastatic spread ofthe AT/RT to the abdominal cavity (Fig. 2e–h).Extraneural metastases of primary brain tumorsoccur very rarely. They originate from gliomas, menin-Fig. 1 Biopsy ﬁndings:Morphological appearance of ahighly cellular, partly rhabdoidtumor in the pineal region (HE;a, b). Immunohistochemicalstaining reveals strongreactivity for vimentin (c) andfocal positivity for SMA (d),cytokeratins (clone AE1–3; e)and EMA (f), while INI1protein expression is lacking(internal positive control:ependymal cells, arrows; g).FISH depicting two signals ofthe ABL locus (red), but onlyone BCR signal (green) intumor cells (h) (HEhematoxylin and eosin, FISHﬂuorescence in situhybridization). Bars a, c–g50 lm; b 20 lm57geal tumors, ependymomas and medulloblastomas [9],and may propagate via cerebrospinal ﬂuid, blood andlymphatic vessels or through direct inﬁltration of adja-cent structures. Spread via VP shunt catheters, insertedto control tumor-related occlusive hydrocephalus, hasbeen limited to few patients with various types of CNStumors, including medulloblastomas and germinomas[7]. As for AT/RTs, metastatic spread to extraneuralsites is very rare. So far only one child with lungmetastasis and one infant with spread to the peritonealcavity due to a VP shunt catheter has been reported [2,4]. While the surface of certain catheters—in our casesilicone elastomer—may inﬂuence tumor cell migrationto some extent, it is also feasible that malignant tumorcells with a perivascular growth pattern in general have ahigher likeliness to migrate along (natural or artiﬁcial)tube-like structures.In conclusion, we report the ﬁrst case of a VP shunt-related spread of an AT/RT in the adult. Thus, despitebeing a very rare phenomenon, VP shunts must beconsidered as potential route for iatrogenic transmissionof AT/RTs into the periphery.Fig. 2 Autopsy ﬁndings:Coronal section of the brainaround the pineal regiondepicting the operation cavityﬁlled with ﬁbrin and recurrenttumor tissue (a) and acutehemorrhage due to tumorinﬁltration in themesencephalon (b). Tumor cellgrowth along the shunt cavityin the CNS (HE). Asterisksindicate border between braintissue and tumor cells (c).Macroscopic appearance ofmultiple solid abdominalmetastases (arrows) in theperitoneal cavity (d). Livermetastasis with similarmorphological appearance asthe primary CNS tumor (HE; e)and analogousimmunohistochemical patternincluding reactivity forvimentin (f) and lack of INI1expression (internal positivecontrol: endothelial cells,arrows; g). FISH depicting twosignals of the ABL locus (red),but only one BCR signal (green;h). Bars a, b 1 cm; c, e–g 50 lm58References1. Biegel JA, Tan L, Zhang F, Wainwright L, Russo P, Rorke LB(2002) Alterations of the hSNF5/INI1 gene in central nervoussystem atypical teratoid/rhabdoid tumors and renal andextrarenal rhabdoid tumors. Clin Cancer Res 8:3461–34672. Guler E, Varan A, Soylemezoglu F, Kudret, Caglar, Ba F,Demirkazik A, Buyyukpamuk M (2001) Extraneural metastasisin a child with atypical teratoid rhabdoid tumor of the centralnervous system. J Neurooncol 54:53–563. Kleihues P, Louis DN, Scheithauer BW, Rorke LB,Reifenberger G, Burger PC, Cavenee WK (2002) The WHOclassiﬁcation of tumors of the nervous system. J NeuropatholExp Neurol 61:215–225; discussion 226–2194. Korones DN, Meyers SP, Rubio A, Torres C, Constine LS(1999) A 4-year-old girl with a ventriculoperitoneal shuntmetastasis of a central nervous system atypical teratoid/rhabdoid tumor. Med Pediatr Oncol 32:389–3915. Lefkowitz IB, Rorke LB, Packer RJ, Sutton LN, Siegel KR,Katnick RJ (1987) Atypical teratoid tumor of infancy: deﬁni-tion of an entity. Ann Neurol 22:448–4496. Raisanen J, Biegel JA, Hatanpaa KJ, Judkins A, White CL,Perry A (2005) Chromosome 22q deletions in atypical teratoid/rhabdoid tumors in adults. Brain Pathol 15:23–287. Rickert CH (1998) Abdominal metastases of pediatric braintumors via ventriculo-peritoneal shunts. Childs Nerv Syst14:10–148. Rorke LB, Packer RJ, Biegel JA (1996) Central nervous systematypical teratoid/rhabdoid tumors of infancy and childhood:deﬁnition of an entity. J Neurosurg 85:56–659. Schweitzer T, Vince GH, Herbold C, Roosen K, Tonn JC(2001) Extraneural metastases of primary brain tumors.J Neurooncol 53:107–11410. Sugita Y, Takahashi Y, Hayashi I, Morimatsu M, Okamoto K,Shigemori M (1999) Pineal malignant rhabdoid tumor withchondroid formation in an adult. Pathol Int 49:1114–111859

Abdominal seeding of an atypical teratoid/rhabdoid tumor of the pineal gland along a ventriculoperitoneal shunt catheter

http://doc.rero.ch/record/319108/files/401_2005_Article_1112.pdf

Abdominal seeding of an atypical teratoid/rhabdoid tumor of the pineal gland along a ventriculoperitoneal shunt catheter

Abstract

Similar works

Full text

Available Versions

RERO DOC Digital Library