MDM2 Amplification and PI3KCA Mutation in a Case of Sclerosing Rhabdomyosarcoma

Table 1

Summary of reported cytogenetic abnormalities in sclerosing rhabdomyosarcoma.

Author	Year	Cases	Notes
Mentzel and Katenkamp [1]	2000	3	No ARMS fusion transcripts due to t(1;13) or t(2;13) found by RT-PCR
Folpe et al. [2]	2002	4	Cases  1 and  3: inadequate RNA for RT-PCR. Case  2: no evidence of PAX3/FOXO1A or PAX7/FOXO1A fusion gene by RT-PCR.; Case  4: not tested due to the absence of nonembolized tissue
Vadgama et al. [4]	2004	1	No ARMS fusion transcripts by RT-PCR
Chiles et al. [5]	2004	13	4 cases negative for ARMS fusion transcripts (PAX3- and PAX7-FOXO1A) by RT-PCR
Croes et al. [6]	2005	1	Tumor cells negative for FOXO1A-disrupting translocation by FISH; karyotype: 44–49,XX,+del(1)(p22)[2],+11,+16[5],+18[12],+21[3],−22[cp13]
Zambrano et al. [7]	2006	3	Case  1: normal. Case  2: complex structural and numerical abnormalities with numerous double minutes in most cells; case  3: less complex, with balanced translocation 46,XX,t(5;20)(q31;pl3)
Kuhnen et al. [8]	2006	1	CGH: loss of 10q22, loss of chromosome Y, gain of chromosome 18 (trisomy)
Bouron-Dal Soglio et al. [9]	2009	1	SNP array: complex aneuploid pattern including gains and losses of whole chromosome and an amplification of 12q13-15. FISH analysis showed amplification of HMGA2 and MDM2