PAX-FKHR fusion genes and AChR-γ in Chinese patients with rhabdomyosarcoma: Diagnosis using formalin-fixed archival tissues

International Journal of Surgical Pathology

Volumn 17, Issue 1, 2009, Pages 6-15

  Chang, Bin ^a   Li, Juan Pang ^a,b   Qi, Yan ^a   Chun, Xia Liu ^d   Cao, Ying ^c   Hong, An Li ^a   Wen, Hao Hu ^a   Jin, Fang Jiang ^a   Wen, Jie Zhang ^b   Li, Feng ^a  

^a SHIHEZI UNIVERSITY   (China)

^b HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^c UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^d NONE

Author keywords

AChR; Molecular diagnosis; PAX FKHR; Rhabdomyosarcoma; RT PCR

Indexed keywords

FORMALDEHYDE; MESSENGER RNA; NICOTINIC ACETYLCHOLINE RECEPTOR GAMMA; NICOTINIC RECEPTOR; NICOTINIC RECEPTOR ALPHA4; PARAFFIN; TRANSCRIPTION FACTOR FKHR; TRANSCRIPTION FACTOR PAX3; TRANSCRIPTION FACTOR PAX7; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHINESE; CLINICAL FEATURE; CONTROLLED STUDY; EMBRYONAL RHABDOMYOSARCOMA; FEMALE; FUSION GENE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RHABDOMYOSARCOMA; SMALL CELL SARCOMA;

ADOLESCENT; ADULT; AGED; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CHINA; FEMALE; FIXATIVES; FORKHEAD TRANSCRIPTION FACTORS; FORMALDEHYDE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENE FUSION; HUMANS; INFANT; MALE; MIDDLE AGED; PAIRED BOX TRANSCRIPTION FACTORS; PAX7 TRANSCRIPTION FACTOR; RECEPTORS, CHOLINERGIC; RECEPTORS, NICOTINIC; RHABDOMYOSARCOMA, ALVEOLAR; RNA, MESSENGER; SOFT TISSUE NEOPLASMS; TUMOR MARKERS, BIOLOGICAL; YOUNG ADULT;

EID: 58349098185     PISSN: 10668969     EISSN: None     Source Type: Journal    
DOI: 10.1177/1066896908323922     Document Type: Article

References (29)

1. Triche TJ Pathology and molecular diagnosis of pediatric malignancies. In: Pizzo PA, Poplack DG, eds. Principles and Practice of Pediatric Oncology. 3 rd ed. Philadelphia, PA: Lippincott-Raven ; 1997.
2. Tsokos M., Webber BL, Parham DM, et al. Rhabdomyosarcoma. A new classification scheme related to prognosis. Arch Pathol Lab Med. 1992 ; 116: 847-855.
3. Cohn SL Diagnosis and classification of the small round-cell tumors of childhood. Am J Pathol. 1999 ; 155: 11-15.
4. Anderson J., Renshaw J., McManus A., et al. Amplification of the t(2;13) and t(1;13) translocations of alveolar rhabdomyosarcoma in small formalin-fixed biopsies using a modified reverse transcriptase polymerase chain reaction. Am J Pathol. 1997 ; 150: 477-482.
5. Scrable H., Witte D., Shimada H., et al. Molecular differential pathology of rhabdomyosarcoma. Genes Chromosomes Cancer. 1989 ; 1: 23-35.
6. Sorensen PH, Lynch JC, Qualman SJ, et al. PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the Children's Oncology Group. J Clin Oncol. 2002 ; 20: 2672-2679.
7. Sainati L., Stella M., Montaldi A., et al. Value of cytogenetics in the differential diagnosis of the small round cell tumors of childhood. Med Pediatr Oncol. 1992 ; 20: 130-135.
8. Biegel JA, Meek RS, Parmiter AH, Conard K., Emanuel BS Chromosomal translocation t(1;13)(q35;q14) in a case of rhabdomyosarcoma. Genes Chromosomes Cancer. 1991 ; 3: 483-484.
9. Douglass EC, Valentine M., Etcubanas E., et al. A specific chromosomal abnormality in rhabdomyosarcoma. Cytogenet Cell Genet. 1987 ; 45: 148-155.
10. Douglass EC, Shapiro DN, Valentine M., et al. Alveolar rhabdomyosarcoma with t(2;13): cytogenetic findings and clinic pathological correlations. Med Pediatr Oncol. 1993 ; 21: 83-87.
11. Douglass EC, Rowe ST, Valentine M., et al. Variant translocations of chromosome 13 in alveolar rhabdomyosarcomas. Genes Chromosomes Cancer. 1991 ; 3: 480-482.
12. Trent J., Casper J., Meltzer P., Thompson F., Fogh J. Nonrandom chromosome alterations in rhabdomyosarcoma. Cancer Genet Cytogenet. 1985 ; 16: 189-197.
13. Turc-Carel C., Lizard-Nacol S., Justrabo E., Favrot M., Philip T., Tabone E. Consistent chromosomal translocation in alveolar rhabdomyosarcoma. Cancer Genet Cytogenet. 1986 ; 19: 361-362.
14. Galili N., Davis RJ, Fredericks WJ, et al. Fusion of a fork-head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma. Nat Genet. 1993 ; 5: 230-235.
15. Anderson J., Gordon T., McManus A., et al. Detection of the PAX3-FKHR fusion gene in pediatric rhabdomyosarcoma: a reproducible predictor of outcome ? Br J Cancer. 2001 ; 85: 831-835.
16. Gattenloehner S., Vincent A., Leuschner I., et al. The fetal form of the acetylcholine receptor distinguishes rhabdomyosarcomas from other childhood tumors. Am J Pathol. 1998 ; 152: 437-444.
17. Gattenloehner S., Dockhorn-Dworniczak B., Leuschner I., Vincent A., Muller-Hermelink HK, Marx A. A comparison of MyoD1 and fetal acetylcholine receptor expression in childhood tumors and normal tissues: implications for the molecular diagnosis of minimal disease in rhabdomyosarcomas. J Mol Diagn. 1999 ; 1: 23-31.
18. Gattenloehner S., Muller-Hermelink HK, Marx A. Comparison of the transcription of the fetal type acetylcholine receptor and myogenin in rhabdomyosarcoma. Verh Dtsch Ges Pathol. 1998 ; 82: 195-201.
19. Gattenloehner S., Muller-Hermelink HK, Marx A. Polymerase chain reaction-based diagnosis of rhabdomyosarcomas: comparison of fetal type acetylcholine receptor subunits and myogenin. Diagn Mol Pathol. 1998 ; 7: 129-134.
20. Li F., Li XX, Chang B., et al. Diagnostic significance and clinical applications of specific chimeric genes in soft tissue sarcomas by RT-PCR using paraffin-embedded tissues: a study of 103 specimens. Zhonghua Yi Xue Za Zhi. 2004, 84: 1518-1522.
21. Li F., Chang B., Li XX, et al. Detection of EWS-FLI1 fusion transcript in Ewing's sarcoma/peripheral primitive neuroectodermal tumors by one-step RT-PCR using paraffin-embedded tissues. Zhonghua Bing Li Xue Za Zhi. 2004 ; 33: 328-331.
22. U. Yamaguchi, T. Hasegawa, Y. Morimoto, et al. A practical approach to the clinical diagnosis of Ewing's sarcoma/primitive neuroectodermal tumor and other small round cell tumors sharing EWS rearrangement using new fluorescence in situ hybridization probes for EWSR1 on formalin fixed, paraffin wax embedded tissue. J Clin Pathol. 2005 ; 58: 1051-1056.
23. Barr FG, Chatten J., D'Cruz CM, et al. Molecular assays for chromosomal translocations in the diagnosis of pediatric soft tissue sarcomas. JAMA. 1995 ; 273: 553-557.
24. Mercado GE, Barr FG Fusions involving PAX and FOX genes in the molecular pathogenesis of alveolar rhabdomyosarcoma: recent advances. Curr Mol Med. 2007 ; 7: 47-61.
25. Kazanowska B., Reich A., Stegmaier S., et al. Pax3-fkhr and pax7-fkhr fusion genes impact outcome of alveolar rhabdomyosarcoma in children. Fetal Pediatr Pathol. 2007 ; 26: 17-31.
26. Wachtel M., Dettling M., Koscielniak E., et al. Gene expression signatures identify rhabdomyosarcoma subtypes and detect a novel t(2;2)(q35;p23) translocation fusing PAX3 to NCOA1. Cancer Res. 2004 ; 64: 5539-5345.
27. McManus AP, Min T., Swansbury GJ, Gusterson BA, Pinkerton CR, Shipley JM der(16)t(1;16)(q21;q13) as a secondary change in alveolar rhabdomyosarcoma. A case report and review of the literature. Cancer Genet Cytogenet. 1996 ; 87: 179-181.
28. Manucha V., Castellani R., Sun CC Alveolar rhabdomyosarcoma of the paranasal sinuses in a 57-year-old woman with 1:16 translocation. J Surg Pathol. 2006 ; 14: 238-242.
29. Gattenlöhner S., Marx A., Markfort B., et al. Rhabdomyosarcoma lysis by T cells expressing a human autoantibodybased chimeric receptor targeting the fetal acetylcholine receptor. Cancer Res. 2006 ; 66: 24-28.