Pericytoma with t(7;12) and ACTB-GLI1 fusion arising in bone

Summary Cytogenetic analysis of a primary bone neoplasm with pericytic features in a 67-year-old man revealed a t(7;12)(p22;q13) among other karyotypic abnormalities. Subsequent molecular studies confirmed the presence of an associated ACTB-GLI1 fusion transcript. An identical 7;12 translocation is...

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Veröffentlicht in:	Human pathology 2012-09, Vol.43 (9), p.1524-1529
Hauptverfasser:	Bridge, Julia A., MD, Sanders, Kyle, MD, Huang, Dali, MD, Nelson, Marilu, MS, Neff, James R., MD, Muirhead, David, MSA, Walker, Craig, MD, Seemayer, Thomas A., MD, Sumegi, Janos, MD, PhD
Format:	Artikel
Sprache:	eng
Schlagworte:	ACTB Aged Bone Neoplasms - genetics Bone Neoplasms - pathology Chromosomes Chromosomes, Human, Pair 12 - genetics Chromosomes, Human, Pair 7 - genetics Gene expression GLI1 Hemangiopericytoma - genetics Hemangiopericytoma - pathology Humans Male Molecular weight Oncogene Proteins, Fusion - genetics Pathology Perictyoma Pericytes - pathology Polymerase chain reaction Proteins Translocation, Genetic Tumors
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Zusammenfassung:	Summary Cytogenetic analysis of a primary bone neoplasm with pericytic features in a 67-year-old man revealed a t(7;12)(p22;q13) among other karyotypic abnormalities. Subsequent molecular studies confirmed the presence of an associated ACTB-GLI1 fusion transcript. An identical 7;12 translocation is known to characterize a discrete group of soft tissue tumors belonging to the myopericytic category termed pericytoma with t(7;12) . To the best of our knowledge, this is the first case of pericytoma with t(7;12) arising in bone. Cytogenetic and molecular analyses were useful, if not essential, in classifying this rare diagnostic entity.
ISSN:	0046-8177 1532-8392
DOI:	10.1016/j.humpath.2012.01.019