Prenatally Diagnosed Sacrococcygeal Teratoma

Wax, Joseph R.; Benn, Peter; Steinfeld, Joy D.; Ingardia, Charles J.

doi:10.1016/s0165-4608(99)00141-7

Cited by 35 publications

(50 citation statements)

References 3 publications

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“…3 Remaining studies are largely individual case reports and demonstrate similar findings. [14][15][16][17][18] For adults, only one case of an untreated congenital sacrococcygeal teratoma has been examined in detail: this tumor underwent a malignant transformation to an adenocarcinoma, with cytogenetic aberrations (amplifications of 8q and 12p) present only within the adenocarcinoma component. 19 The remaining literature consists of purely descriptive individual case reports.…”

Section: Discussionmentioning

confidence: 99%

Sacrococcygeal teratomas: clinico-pathological characteristics and isochromosome 12p status

et al. 2014

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The biological behavior of teratomas is highly variable, and morphologic features alone are insufficient to predict their clinical course. Prognostic factors that influence behavior include the following: patient sex, age, anatomic site, coincident neoplasm, and cytogenetic abnormalities. Gonadal teratomas have been wellcharacterized; postpubertal testicular teratomas are commonly associated with isochromosome 12p (i12p) and considered to nearly always carry a potential for malignant behavior, whereas ovarian and prepubertal testicular teratomas are i12p negative and predominantly benign in behavior. For extragonadal sites, such as sacrum and coccyx, clinical characteristics and i12p status are yet to be adequately characterized. As part of this study, we identified 19 sacrococcygeal teratomas in our surgical pathology archives from 1990 to 2012. Clinical records and slides were reviewed to confirm the original diagnosis. Gains in chromosome 12p, including i12p status were assessed in representative paraffin sections by fluorescence in situ hybridization. Our cases included 16 mature sacrococcygeal teratomas (11 prepubertal and 5 postpubertal) and three immature saccrococygeal teratomas (all prepubertal). Among mature teratomas, the average tumor size was larger in adults compared with prepubertal patients. A higher number of adult cases were recurrences (80% vs 21%), but only pediatric recurrences were managed with postoperative chemotherapy. All examined tumors were negative for i12p. 100% survival was documented in our cohort with a median follow-up of 6 years. We present a large series of sacrococcygeal teratomas and the first series to examine postpubertal adults at this anatomic site. All tumors lacked chromosome 12p gains, including i12p. Both pre-and postpubertal sacrococcygeal teratomas had a favorable outcome regardless of age or sex.

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Section: Discussionmentioning

confidence: 99%

Sacrococcygeal teratomas: clinico-pathological characteristics and isochromosome 12p status

et al. 2014

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“…In all cases with partial trisomies larger than 1q25-1q44 described up to now, the pregnancy was spontaneously terminated by abortion [4][5][6]9]. On the other hand, patients with duplications of 1q32-1q44 or smaller can be born and reach adulthood [for summaries see 10, 11].…”

Section: Discussionmentioning

confidence: 99%

“…Partial trisomy of the complete long arm of chromosome 1 has previously been reported in 3 spontaneously aborted cases [4][5][6]. Sonographic abnormalities reported there were facial anomalies, central nervous system abnormalities, teratomas, and nuchal edema.…”

Section: Introductionmentioning

confidence: 92%

First Case of Trisomy 13 plus Mosaic Trisomy 1q

Liehr

Schmidt²,

Starke

et al. 2002

Fetal Diagn Ther

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Objectives: In a case with severe sonographic abnormalities followed by missed abortion in week 14 + 5 days, cytogenetic analysis was performed on placental tissue. A mosaic karyotype 47,XY,+13,add(1)(q44)[3]/47,XY, +13[9]/46,XY[36] was detected. The purpose of the present study was to characterize the additional material on chromosome 1q. Methods: According to GTG banding, the additional material on chromosome 1 was most probably chromosome 1 material. Thus, multicolor banding analysis using a chromosome 1 specific probe set was done to precisely describe the rearranged chromosome 1. Results: Molecular cytogenetic approaches revealed that the derivative chromosome 1 was der(1)(1p36.3→1q44::1q12→1q44). Conclusions: This is the first description of a case with a trisomy 13 plus a partial trisomy 1q presenting with clinical signs of both aberrations. Moreover, the multicolor banding technique is suited to resolve complex karyotypes in the prenatal diagnosis, i.e., chromosome preparations of fibroblasts.

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“…Toutefois, certaines anomalies du caryotype ont été décrites : trisomie partielle du chromosome 1q [7], délétion du chromosome 7q associée à une trisomie du chromosome 2p (syndrome de Currarino) [8]. C'est pourquoi, il semble licite de s'assurer de l'absence d'anomalie chromosomique lors de toute prise en charge d'un tératome sacrococcygien.…”

Section: Bilan Généralunclassified

“…Certains auteurs préconisent une césarienne pour les foetus présentant des tératomes à fort risque hémorragique (diamètre supérieur à 10 cm et tumeurs solides) [1,9,14,16,17]. La présence d'une prééclampsie ou mirror syndrome impose la réalisation d'une extraction foetale immédiate quel que soit le mode d'accouchement [7,16]. En revanche, l'accouchement par voie basse est possible pour les tumeurs de moins de 10 cm purement kystiques (avec si nécessaire un drainage percutané du kyste au préalable) [13].…”

Section: Prise En Charge Obstétricaleunclassified