Temporal Chondroblastoma with a Novel Chromosomal Translocation (2;5) (q33;q13)

ABSTRACT

The case of a 51-year-old man with a large temporal mass is presented. The mass eroded the floor of the middle fossa medially to the sphenoid sinus. A combined approach with neurosurgery and otolaryngology was performed to achieve maximal resection of the mass. Pathology was typical for chondroblastoma: a rare, benign but locally invasive chondroid tumor. Genetic testing revealed a translocation of (2;5) (q33;q13). This is a unique genetic mutation in all chondroid tumors to our knowledge. The diagnostic utility or role of this mutation in the pathobiology of this tumor remains to be determined.

KEYWORDS

Chondroblastoma - genetics - karyotype - temporal bone - skull-base tumor - cytogenetics

REFERENCES

• 1 American College of Medical Genetics .Standards and Guidelines for Clinical Genetics Laboratories. Available at: http://www.acmg.net/StaticContent/SGs/Section_E.html Accessed December 11, 2010
• 2 Cheng S, Ng T, Gomes L, da Cruz M. Temporal bone chondroblastoma.  Otol Neurotol. 2009;  30 688-689
• 3 Moon I S, Kim J, Lee H K, Lee W S. Surgical treatment and outcomes of temporal bone chondroblastoma.  Eur Arch Otorhinolaryngol. 2008;  265 1447-1454
• 4 Ishikawa E, Tsuboi K, Onizawa K et al.. Chondroblastoma of the temporal base with high mitotic activity.  Neurol Med Chir (Tokyo). 2002;  42 516-520
• 5 Bian L G, Sun Q F, Zhao W G, Shen J K, Tirakotai W, Bertalanffy H. Temporal bone chondroblastoma: a review.  Neuropathology. 2005;  25 159-164
• 6 Kutz Jr J W, Verma S, Tan H T, Lo W W, Slattery III W H, Friedman R A. Surgical management of skull base chondroblastoma.  Laryngoscope. 2007;  117 848-853
• 7 Hong S M, Park Y K, Ro J Y. Chondroblastoma of the temporal bone: a clinicopathologic study of five cases.  J Korean Med Sci. 1999;  14 559-564
• 8 Maruyama R, Nagaoka S, Todaka T, Nakahara T, Kishida K. Intracranial chondromyxoid fibroma extending into the jugular foramen.  Pathol Int. 1994;  44 857-859
• 9 Narita Y, Morimoto T, Nishikawa R et al.. Chondroblastoma of the temporal bone—report of a case and a review of the literature of 54 cases.  No To Shinkei. 1992;  44 143-148
• 10 Cabrera R A, Almeida M, Mendonça M E, Frable W J. Diagnostic pitfalls in fine-needle aspiration cytology of temporomandibular chondroblastoma: report of two cases.  Diagn Cytopathol. 2006;  34 424-429
• 11 Dran G, Niesar E, Vandenbos F, Noel G, Paquis P, Lonjon M. Chondroblastoma of the apex portion of petrousal bone.  Childs Nerv Syst. 2007;  23 231-235
• 12 Koerbel A, Loewenheim H, Beschorner R et al.. A 27-year-old woman with cranial nerve dysfunction.  Brain Pathol. 2007;  17 327-328
• 13 Kondoh T, Hamada Y, Kamei K, Seto K. Chondroblastoma of the mandibular condyle: report of a case.  J Oral Maxillofac Surg. 2002;  60 198-203
• 14 Payne M, Yusuf H. Benign chondroblastoma involving the mandibular condyle.  Br J Oral Maxillofac Surg. 1987;  25 250-255
• 15 Al-Dewachi H S, Al-Naib N, Sangal B C. Benign chondroblastoma of the maxilla: a case report and review of chondroblastomas in cranial bones.  Br J Oral Surg. 1980;  18 150-156
• 16 al-Sader M H, Tait R, Leader M. Chondroblastoma—an unusual site in a young patient.  J Laryngol Otol. 1996;  110 696-699
• 17 Bertoni F, Unni K K, Beabout J W, Harner S G, Dahlin D C. Chondroblastoma of the skull and facial bones.  Am J Clin Pathol. 1987;  88 1-9
• 18 Martinez-Madrigal F, Vanel D, Luboinski B, Terrier P. Case report 670: chondroblastoma maxillary sinus.  Skeletal Radiol. 1991;  20 299-301
• 19 Muntané A, Valls C, Angeles de Miquel M A, Pons L C. Chondroblastoma of the temporal bone: CT and MR appearance.  AJNR Am J Neuroradiol. 1993;  14 70-71
• 20 Tanohata K, Noda M, Katoh H et al.. Chondroblastoma of temporal bone.  Neuroradiology. 1986;  28 367-370
• 21 Leong H K, Chong P Y, Sinniah R. Temporal bone chondroblastoma: big and small.  J Laryngol Otol. 1994;  108 1115-1119
• 22 Gaudet Jr E L, Nuss D W, Johnson Jr D H, Miranne Jr L S. Chondroblastoma of the temporal bone involving the temporomandibular joint, mandibular condyle, and middle cranial fossa: case report and review of the literature.  Cranio. 2004;  22 160-168
• 23 Pontius A, Reder P, Ducic Y. Temporal bone chondroblastomas.  Am J Otolaryngol. 2003;  24 370-373
• 24 Selesnick S H, Levine J M. Chondroblastoma of the temporal bone: consistent middle fossa involvement.  Skull Base Surg. 1999;  9 301-305
• 25 Ohnishi T, Oku Y, Yamamoto K, Morimura Y, Ushio Y. Benign chondroblastoma of the occipital bone.  Surg Neurol. 1985;  24 52-56
• 26 Horn K L, Hankinson H, Nagel B, Erasmus M. Surgical management of chondroblastoma of the temporal bone.  Otolaryngol Head Neck Surg. 1990;  102 264-269
• 27 Varvares M A, Cheney M L, Goodman M L, Ceisler E, Montgomery W W. Chondroblastoma of the temporal bone. Case report and literature review.  Ann Otol Rhinol Laryngol. 1992;  101 763-769
• 28 Ben Salem D, Allaoui M, Dumousset E et al.. Chondroblastoma of the temporal bone associated with a persistent hypoglossal artery.  Acta Neurochir (Wien). 2002;  144 1315-1318
• 29 Moorthy R K, Daniel R T, Rajshekhar V, Chacko G. Skull base chondroblastoma: a case report.  Neurol India. 2002;  50 534-536
• 30 Ionescu D N, McFadden K, Unni K K, Couce M E. Pathologic quiz case: a 33-year-old woman with a large temporal mass. Chondroblastoma of the skull.  Arch Pathol Lab Med. 2005;  129 539-540
• 31 Kurokawa R, Uchida K, Kawase T. Surgical treatment of temporal bone chondroblastoma.  Surg Neurol. 2005;  63 265-268 discussion 268
• 32 Blaauw G, Prick J J, Versteege C. Chondroblastoma of the temporal bone.  Neurosurgery. 1988;  22(6 Pt 1) 1102-1107
• 33 Hug E B, Sweeney R A, Nurre P M, Holloway K C, Slater J D, Munzenrider J E. Proton radiotherapy in management of pediatric base of skull tumors.  Int J Radiat Oncol Biol Phys. 2002;  52 1017-1024
• 34 Green P, Whittaker R P. Benign chondroblastoma. Case report with pulmonary metastasis.  J Bone Joint Surg Am. 1975;  57 418-420
• 35 Seline P C, Jaskierny D J. Cutaneous metastases from a chondroblastoma initially presenting as unilateral palmar hyperhidrosis.  J Am Acad Dermatol. 1999;  40(2 Pt 2) 325-327
• 36 Tallini G, Dorfman H, Brys P et al.. Correlation between clinicopathological features and karyotype in 100 cartilaginous and chordoid tumours. A report from the Chromosomes and Morphology (CHAMP) Collaborative Study Group.  J Pathol. 2002;  196 194-203
• 37 Granter S R, Renshaw A A, Kozakewich H P, Fletcher J A. The pericentromeric inversion, inv (6)(p25q13), is a novel diagnostic marker in chondromyxoid fibroma.  Mod Pathol. 1998;  11 1071-1074
• 38 Halbert A R, Harrison W R, Hicks M J, Davino N, Cooley L D. Cytogenetic analysis of a scapular chondromyxoid fibroma.  Cancer Genet Cytogenet. 1998;  104 52-56
• 39 Safar A, Nelson M, Neff J R et al.. Recurrent anomalies of 6q25 in chondromyxoid fibroma.  Hum Pathol. 2000;  31 306-311
• 40 Hameed M, Ulger C, Yasar D et al.. Genome profiling of chondrosarcoma using oligonucleotide array-based comparative genomic hybridization.  Cancer Genet Cytogenet. 2009;  192 56-59
• 41 Sandberg A A. Genetics of chondrosarcoma and related tumors.  Curr Opin Oncol. 2004;  16 342-354
• 42 Sjögren H, Orndal C, Tingby O, Meis-Kindblom J M, Kindblom L G, Stenman G. Cytogenetic and spectral karyotype analyses of benign and malignant cartilage tumours.  Int J Oncol. 2004;  24 1385-1391
• 43 Stenman G, Andersson H, Mandahl N, Meis-Kindblom J M, Kindblom L G. Translocation t(9;22)(q22;q12) is a primary cytogenetic abnormality in extraskeletal myxoid chondrosarcoma.  Int J Cancer. 1995;  62 398-402
• 44 Reid R, de Silva M V, Paterson L. Poorly differentiated extraskeletal myxoid chondrosarcoma with t(9;22)(q22;q11) translocation presenting initially as a solid variant devoid of myxoid areas.  Int J Surg Pathol. 2003;  11 137-141
• 45 Kumar R, Rekhi B, Shirazi N et al.. Spectrum of cytomorphological features, including literature review, of an extraskeletal myxoid chondrosarcoma with t(9;22)(q22;q12) (TEC/EWS) results in one case.  Diagn Cytopathol. 2008;  36 868-875
• 46 Wang W L, Mayordomo E, Czerniak B A et al.. Fluorescence in situ hybridization is a useful ancillary diagnostic tool for extraskeletal myxoid chondrosarcoma.  Mod Pathol. 2008;  21 1303-1310
• 47 Mark J, Wedell B, Dahlenfors R, Grepp C, Burian P. Human benign chondroblastoma with a pseudodiploid stemline characterized by a complex and balanced translocation.  Cancer Genet Cytogenet. 1992;  58 14-17
• 48 Bridge J A, Bhatia P S, Anderson J R, Neff J R. Biologic and clinical significance of cytogenetic and molecular cytogenetic abnormalities in benign and malignant cartilaginous lesions.  Cancer Genet Cytogenet. 1993;  69 79-90
• 49 Swarts S J, Neff J R, Johansson S L, Nelson M, Bridge J A. Significance of abnormalities of chromosomes 5 and 8 in chondroblastoma.  Clin Orthop Relat Res. 1998;  (349) 189-193
• 50 van Zelderen-Bhola S L, Bovée J V, Wessels H W et al.. Ring chromosome 4 as the sole cytogenetic anomaly in a chondroblastoma: a case report and review of the literature.  Cancer Genet Cytogenet. 1998;  105 109-112
• 51 Papachristou D J, Goodman M A, Cieply K, Hunt J L, Rao U N. Comparison of allelic losses in chondroblastoma and primary chondrosarcoma of bone and correlation with fluorescence in situ hybridization analysis.  Hum Pathol. 2006;  37 890-898
• 52 Romeo S, Szuhai K, Nishimori I et al.. A balanced t(5;17) (p15;q22-23) in chondroblastoma: frequency of the re-arrangement and analysis of the candidate genes.  BMC Cancer. 2009;  9 393