Molecular Cytogenetics of Human
Germ Cell Tumours: i(12p) and
Related Chromosomal Anomalies

Kessel, Ad Geurts van; Suijkerbuijk, R.F.; Sinke, Richard J.; Looijenga, Leendert; Jw, Oosterhuis; Jong, Bauke M. de

doi:10.1159/000474566

Cited by 45 publications

(25 citation statements)

References 16 publications

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“…Standard cytogenetics detects i(12p) in 50% to 70% of testicular germ cell tumors (26). The i(12p)-negative cases, however, showed other 12p abnormalities (27). Using FISH, Smolarek et al (28), evaluated 11 primary germ cell tumors and 16 metastatic germ cell tumors involving lymph nodes, and found overrepresentation of 12p in all 27 tumors.…”

Section: Discussionmentioning

confidence: 99%

Interphase Fluorescence In situ Hybridization Analysis of Chromosome 12p Abnormalities Is Useful for Distinguishing Epidermoid Cysts of the Testis from Pure Mature Teratoma

Liu

Zhang²,

MacLennan

et al. 2006

Clinical Cancer Research

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Purpose: The distinction of epidermoid cyst of the testis from teratoma is of critical importance because the former is benign and the latter is a malignant tumor that may have associated metastasis of either teratomatous or non^teratomatous germ cell tumor types. Chromosome 12p abnormalities are seen in the vast majority of testicular germ cell tumors of adults and are present in all histologic subtypes. In this study, we investigated the clinical utility of interphase fluorescence in situ hybridization (FISH) analysis of chromosome 12p abnormalities for distinguishing epidermoid cysts of the testis from pure mature teratoma. Experimental Design: Sixteen testicular epidermoid cysts and 17 testicular teratomas were investigated for isochromosome 12p [i(12p)] and 12p overrepresentation using interphase FISH analysis. Results: Neither i(12p) nor 12p overrepresentation were observed in 16 epidermoid cyst cases, whereas i(12p) was detected in 76% of teratomas and 12p overrepresentation was identified in 29% of teratomas. Overall, 88% of testicular teratomas had chromosome 12p abnormalities. Conclusions: FISH identification of i(12p) and/or 12p overrepresentation in routinely processed surgical specimens is a useful ancillary diagnostic tool in distinguishing testicular epidermoid cysts from teratoma.

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Section: Discussionmentioning

confidence: 99%

Interphase Fluorescence In situ Hybridization Analysis of Chromosome 12p Abnormalities Is Useful for Distinguishing Epidermoid Cysts of the Testis from Pure Mature Teratoma

Liu

Zhang²,

MacLennan

et al. 2006

Clinical Cancer Research

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“…11 The i(12p)-negative cases, however, showed other 12p abnormalities. 12 Classic cytogenetics has long been the standard method used in studying testicular germ cell tumors. However, recent studies have shown FISH to be more sensitive in identifying 12p abnormalities than conventional cytogenetics.…”

Section: Discussionmentioning

confidence: 99%

Fluorescence in situ hybridization analysis of chromosome 12p in paraffin-embedded tissue is useful for establishing germ cell origin of metastatic tumors

et al. 2004

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The over-representation of chromosome 12p sequences is crucial for the development of invasive testicular germ cell tumors. Testicular cancer patients may have metastatic tumors of diverse histologic types, including adenocarcinoma, undifferentiated carcinoma, sarcoma, or other malignancies that lack features of germ cell tumors. We sought to investigate the possible germ cell origin of such tumors using interphase fluorescence in situ hybridization. In all, 10 metastatic malignant somatic-type tumors from patients with histories of testicular cancer, as well as one malignant somatic-type tumor from a patient with primary mediastinal germ cell tumor were studied and included: adenocarcinoma (five cases), poorly differentiated carcinoma (one), sarcoma (four), and neuroendocrine carcinoma (one). The tumors were analyzed using fluorescence in situ hybridization using 12p spectrum green and 12 centromeric spectrum orange probes in paraffin sections. The patients ranged in age from 27 to 55 years (mean, 43). Colon and lung cancers from patients without germ cell tumors were used as controls. Adequate signals were observed in all tumors. Gain of chromosome 12p was seen in six tumors. None of the control tumors showed 12p amplification. Fluorescence in situ hybridization for 12p amplification in routinely processed surgical specimens is a useful adjuvant diagnostic tool in confirming the germ cell origin of metastatic tumors having the histologic appearance of somatic-type neoplasms.

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“…103 The consistent overrepresen tation of 12p sequences in testicular germ cell tumors positive and negative for the i(12p) isochromosome indicates a common mechanism leading to malignancy in these tu mors.30*47 The invariable multiplication of almost the entire 12p arm in testicular germ cell tumors implies the involve ment of genes present along the length of the 12p region that may be important in tumor development (for example malig nant potential, growth advantage, tumor progression and therapy resistance) 47>55*104 However, the absence of nonran dom involvement of any 12p subregion as observed in these tumors hampered the identification and further analysis of such genes. 59 Recently, the identification and preliminary characteriza tion of a 12p derived amplicon, found in a metastatic semi noma without an i(12p) isochromosome, were reported. 91 More precisely, fluorescence in situ hybridization (using 12p region specific painting probes)105 and comparative genomic hybridization analyses (the latter providing information on overrepresentation and underrepresentation of chromosomes or chromosomal segments in whole tumor genomes)91*106'107 revealed the amplification of subregion 12pll.2p-pl2.1 within the tumor genome, which occurred as an abnormally …”

Section: Fluorescence In Situ Hybridizationmentioning

confidence: 99%

“…Yolk sac tum ors 59, X, -Y , +X, +1, +3, +8, +8, +8, -9 , +12, 14?, -1 4 , -1 6 , +19, +19, +20, +der(9)t(9; ?Xq24;? ), +der(ll)t(l;ll)(q21;pl5), + der(ll)t(l;ll)(ql2;pl5)J + der (12) + 16, +17, +21, -22, +mar 56-60, XXY, add(lXq21), der(l)t(l;9Xq32;qll), dic(2;?;15)(pll;?…”

Section: Vos Et Al39mentioning

confidence: 99%

“…+13, +14, +15, +15, +16, +17, +der(17)t(17;18Xpll,?2;qll), + 19, +20, add(20Xpll'2)x2, +21, +22, +3mar Immature ter atoma/m ature teratoma: 59, XXY, del(lXp21), i(12p), t(l;lXp22;q21), ine 57-63, XXY, add(lXpl3), -3 , add(3Xq26), ~4, -5 , -7 , der(7)t(7;7;18) (7qter->7p22:: 7ql1->7q34: : 18ql 1-*18qter), +add(8Xp23), -9 , -1 0 , -1 1 , -13, add(14)(q32), -1 5 , -1 8 , -18, add(18Xpll)> -20, -2 2 , +3mar Mature teratoma/yolk sac tumor: 52-56, XXY, add(lXqll), +t(l;2)(ql0;pl0), -2 , add(3Xpl2), -4 , -5, -6 , i(7)(pl0), -9 , del(9Xqll), -10, -11, derdl)tdl;ll;9)(llpter-»llq25::llq25-»llql3::9ql3->9qter), -13, add(13Xq21), +add(14Xpl2), -15, -16, -18, -19, -20, -21, -21, -21, -22, -22, +3-9mar Mature teratom a/imm ature teratoma/yolk sac tumor: 52-58, XXY, -1 , -2 , -4 , -5 , -6 , dic(7;? ; 13)(p22;?p 12), +8, -9 , -10, -11, i(12XplO), -13, -13, -16, -18, -19, -20, -2 2 57-67, XXY, +der(X)t(X;3Xq23;pl4), adddXqll), " 4, -5 , +7, +8, -9 , -10, -11, +i(12Xpl0), -13, -13, -14, der (16) 47-61, XXY, der(l)t(l;17)(p34;q21), add(2)(ql4), -4 , -5 , add(6)(ql5), +der(6)t(6;9)(ql2; ql2), add(7)(q21), del(8)(q24), -9 , -9 , -10, -10, -1 1 , +i (12) [54][55][56][57][58][59][60][61][62], XXY, der(l)t(l;9)(p34;qll), -2 , -4 , -5 , -6 , -9 , -10, -11, +i(12)(pl0)x2, -13, -15, -18, -19, der(22)t(6;22)(pll;pll) 56-66, XXY, +Y, del(l)(p31), -4 , -5 , -11, der(12)t(2;12)(pl3;pl3), +i(12)(pl0), -13, -14, -15, -18, -20, +21, +mar 57-67, XXY, -5 , del(7)(q34), -11, +i (12) (pl0)x2, -1 3 , add(16)(q24), -18, -19, -22, +mar 62-68, XXY, +der(l)t( 1 ;9)(p34;ql 1), +7, +8, -9 , -10, -11, dup(12)(ql3q21), +i (12) 110-116, XXY, +X, +Y, +Y, +1, +1, +2, +2, +3, +3, +4, +5, +6, +7, +7, +add(7)(qll), +8, +8, +8, der(9)t(6;9)(qll;pll), inv(9)(pllql3), +10, +11, +12, +12, +12, +i(12)(pl0)x2, +13, +14, +14, +15, +15, +16, +17, +18, +19, +19, +20, +20, +20, +21, +21, +21, +22, +mar Embryonal Ca/immature teratoma/mature teratoma/seminoma/yolk sac tumor: 52-60, XXY, +add(lXp36), -2 , -4 , -5 , -7 , +8, add(9)(p24), add(9)(p24), -1 1 , +12, +i(12)(pl0)x2, -13, -14, -15, -15, i(15)(ql0), -1 8 , -20, -21, -22, +mar 61-65, XXY, +Y, +der(2)t(2;8)(q22;q22), -4 , add(4)(pl5.3), -5 , -10, -11, +i(12)(pl0)x3, -13, -14, der(15)t(8;15)(ql3;ql5), -16, -18, -19, -2 0 , -22 63-68, XXY, +del(l)(pl3), +der(l)t(l;ll)(p36;ql3), -4 , +del(7)(q31), -9 , -1 0 , -11, -13, -14, -18, -19, der(19)t(?12;19Xpll;qll), +add(20)(pl3)x2, +der(20)t(9;20)(qll;pl3), -21, -22, +mar 63-68, XXY, +Y, -4 , -5 , +7, +der(8)t(8;9)(p23;ql2), -9 , -9 , -10, -11, +i(12)(pl0)x2, -13, -16, -18, -19, -20, +21, +21, +mar Embryonal Ca/immature teratoma/mature teratoma/seminoma/chorioca./yolk sac tumor: 59-63, XXY, add(lXpll), der(2)add(2)(p22)del(2)(q21), -3 , -4 , -5 , -6 , add(6)(ql6), +add(7)(q32), -9 , der(9)t(6;9)(qll;q21), der(10)t(9;10)(q21;q21), -11, +i(12)(pl0)x2, -13, -15, -16, -17, -18, -19, add(19)(pl3), -...…”

Section: Vos Et Al39mentioning

confidence: 99%

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Reviews of Chromosome Studies in Urological Tumors. III. Cytogenetics and Genes in Testicular Tumors

Sandberg¹,

Meloni²,

Suijkerbuijk³

1996

The Journal of Urology

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Purpose: We reviewed available cytogenetic and m olecular findings in testicu lar germ cell tum ors, and th e ir possible application to clinical, pathological an d basic p aram eters.M aterials and Methods: Findings in th e lite ra tu re on te stic u la r germ cell tum ors as w ell as those from our laboratory were sum m arized, including a listin g of th e cytogenetic findings on testicu lar germ cell tum ors to date w ith some illu stratio n s,Results: Testicular germ cell tum ors are characterized in m ost cases by the presence of an i(12p) isochromosome. In tum ors w ithout such an abnorm al chrom osom e studies u sin g fluores cence in situ hybridization and m olecular approaches have d em o n strated eith er m asking of th e i(12p) or th e presence of extra 12p sequences in the karyotype. A lthough testicu lar germ cell tum ors are often associated w ith chromosome changes in addition to th e i(12p), no o th er specifically recu rren t stru ctu ral chromosome changes have b e e n found. B ased on th e cytogenetic and m olecular findings in testicular germ cell tum ors, a hy p o th etical schem e for th e genetic events leading to these tum ors is presented.Conclusions: The genetic events leading to genesis of te stic u la r germ cell tum ors in m en a p p ea r to be related to aneuploidization followed by th e form ation of a n i(12p) isochrom osome, th e la tte r characterizing the preponderant num ber of te stic u la r germ cell tum ors. The exact role of th e i(12p) isochromosome in testicular germ cell tum or p ath o g en esis rem ain s to be determ ined, as is tru e of the genes involved in or affected by these tum ors. B ased on p re se n tly available in fo rm a tion, a hypothetical pathogenetic and oncogenetic model for th e developm ent of te stic u la r germ cell tum ors is presented.

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Molecular Cytogenetics of Human Germ Cell Tumours: i(12p) and Related Chromosomal Anomalies

Cited by 45 publications

References 16 publications

Interphase Fluorescence In situ Hybridization Analysis of Chromosome 12p Abnormalities Is Useful for Distinguishing Epidermoid Cysts of the Testis from Pure Mature Teratoma

Interphase Fluorescence In situ Hybridization Analysis of Chromosome 12p Abnormalities Is Useful for Distinguishing Epidermoid Cysts of the Testis from Pure Mature Teratoma

Fluorescence in situ hybridization analysis of chromosome 12p in paraffin-embedded tissue is useful for establishing germ cell origin of metastatic tumors

Reviews of Chromosome Studies in Urological Tumors. III. Cytogenetics and Genes in Testicular Tumors

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