Tumors of the Female Genital Organs

and, Francesca Micci; Heim, Sverre

doi:10.1002/9781118010136.ch16

Cited by 6 publications

(10 citation statements)

References 245 publications

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“…More precisely, the X chromosome was lost in six tumors and gained in two, whereas chromosomes 8 and 14 were involved in numerical aberrations in six tumors each, equally often in gains and losses. These numerical aberrations are well known in ovarian carcinomas [15]. The mechanisms behind their occurrence are unknown as are their pathogenetic effects.…”

Section: Discussionmentioning

confidence: 99%

Tumor Spreading to the Contralateral Ovary in Bilateral Ovarian Carcinoma Is a Late Event in Clonal Evolution

Micci

Haugom

Ahlquist

et al. 2010

Journal of Oncology

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Cancer of the ovary is bilateral in 25%. Cytogenetic analysis could determine whether the disease in bilateral cases is metastatic or two separately occurring primary tumors, but karyotypic information comparing the two cancerous ovaries is limited to a single report with 11 informative cases. We present a series of 32 bilateral ovarian carcinoma cases, analyzed by karyotyping and high-resolution CGH. Our karyotypic findings showed that spreading to the contralateral ovary had occurred in bilateral ovarian cancer cases and that it was a late event in the clonal evolution of the tumors. This was confirmed by the large number of similar changes detected by HR-CGH in the different lesions from the same patient. The chromosomal bands most frequently involved in structural rearrangements were 19p13 (n = 12) and 19q13 (n = 11). The chromosomal bands most frequently gained by both tumorous ovaries were 5p14 (70%), 8q23-24 (65%), 1q23-24 (57%), and 12p12 (48%), whereas the most frequently lost bands were 17p11 (78%), 17p13 (74%), 17p12 (70%), 22q13 (61%), 8p21 and 19q13 (52%), and 8p22-23 (48%). This is the first time that 5p14 is seen gained at such a high frequency in cancer of the ovary; possibly oncogene(s) involved in bilateral ovarian carcinogenesis or tumor progression may reside in this band.

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Section: Discussionmentioning

confidence: 99%

Tumor Spreading to the Contralateral Ovary in Bilateral Ovarian Carcinoma Is a Late Event in Clonal Evolution

Micci

Haugom

Ahlquist

et al. 2010

Journal of Oncology

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“…Poorly differentiated and/or advanced stage ovarian carcinomas, on the other hand, tend to have more complex karyotypes with multiple numerical as well as structural aberrations [18,37]. A novel finding, however, was that three tumors (cases 3, 13, and 14; admittedly, the last two were from the same patient) showed a single structural aberration that seemed to involve chromosomal band 3q13.…”

Section: Discussionmentioning

confidence: 99%

Genomic aberrations in borderline ovarian tumors

et al. 2010

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BackgroundAccording to the scientific literature, less than 30 borderline ovarian tumors have been karyotyped and less than 100 analyzed for genomic imbalances by CGH.MethodsWe report a series of borderline ovarian tumors (n = 23) analyzed by G-banding and karyotyping as well as high resolution CGH; in addition, the tumors were analyzed for microsatellite stability status and by FISH for possible 6q deletion.ResultsAll informative tumors were microsatellite stable and none had a deletion in 6q27. All cases with an abnormal karyotype had simple chromosomal aberrations with +7 and +12 as the most common. In three tumors with single structural rearrangements, a common breakpoint in 3q13 was detected. The major copy number changes detected in the borderline tumors were gains from chromosome arms 2q, 6q, 8q, 9p, and 13q and losses from 1p, 12q, 14q, 15q, 16p, 17p, 17q, 19p, 19q, and 22q. The series included five pairs of bilateral tumors and, in two of these pairs, informative data were obtained as to their clonal relationship. In both pairs, similarities were found between the tumors from the right and left side, strongly indicating that bilaterality had occurred via a metastatic process. The bilateral tumors as a group showed more aberrations than did the unilateral ones, consistent with the view that bilaterality is a sign of more advanced disease.ConclusionBecause some of the imbalances found in borderline ovarian tumors seem to be similar to imbalances already known from the more extensively studied overt ovarian carcinomas, we speculate that the subset of borderline tumors with detectable imbalances or karyotypic aberrations may contain a smaller subset of tumors with a tendency to develop a more malignant phenotype. The group of borderline tumors with no imbalances would, in this line of thinking, have less or no propensity for clonal evolution and development to full-blown carcinomas.

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“…Two fusion signals (yellow color) were identified, one on the pseudo dicentric(4;6) and the other on the inserted(6;2) (Figure 2D ). The revised karyotype incorporating the FISH and RNA-sequencing data thus became 47,XX, +add(3)(p11),psu dic(4;6)(q31;q15)ins(6;2)(p21;q23q23), +6, ins(6;2)(p21;q23q23).ish psu dic(4;6)(PHF1+, EPC2+), ins(6;2)(PHF1+, EPC2+;EPC2-)[ 4 ].…”

Section: Resultsmentioning

confidence: 99%

Identification of anEPC2-PHF1fusion transcript in low-grade endometrial stromal sarcoma

et al. 2018

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Recurrent chromosomal translocations leading to gene fusion formation have been described in uterine sarcomas, including low-grade endometrial stromal sarcoma (LG-ESS). Involvement of the PHF1 gene in chromosomal rearrangements targeting band 6p21 has been found in LG-ESS with different partners from JAZF1 mapping in 7p15, to EPC1 from 10p11, MEAF6 from 1p34, and BRD8 from 5q31.In the present study, RNA sequencing of a LG-ESS showed a novel recombination of PHF1 with the Enhancer of Polycomb homolog 2 (EPC2). RT-PCR followed by Sanger sequencing and FISH analysis confirmed the EPC2-PHF1 fusion transcript.

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Tumors of the Female Genital Organs

Cited by 6 publications

References 245 publications

Tumor Spreading to the Contralateral Ovary in Bilateral Ovarian Carcinoma Is a Late Event in Clonal Evolution

Tumor Spreading to the Contralateral Ovary in Bilateral Ovarian Carcinoma Is a Late Event in Clonal Evolution

Genomic aberrations in borderline ovarian tumors

Identification of anEPC2-PHF1fusion transcript in low-grade endometrial stromal sarcoma

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