Sacrococcygeal Teratoma associated with Trisomy 13

Dorum, Bayram Ali̇; Köksal, Nilgün; Özkan, Hilal; Karakaya, Sabahattin; Akgül, Ahsen Karagözlü

doi:10.21699/ajcr.v7i3.423

Cited by 7 publications

(2 citation statements)

References 7 publications

(4 reference statements)

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“…In Turkey, a SCT was found in a newborn postnatally and was later on confirmed to have Trisomy 13. The neonate also presented with aplasia cutis, microphthalmia, low-set ears, depressed nasal root, and polydactyly, other commonly associated features with Trisomy 13 [5]. Our fetus, however, did not prenatally present with any of these commonly associated features.…”

Section: Discussionmentioning

confidence: 80%

Prenatal Sacrococcygeal Teratoma Diagnosed in a Fetus with Partial Trisomy 13q22

Dalal

Berry

Pimentel

2019

Case Reports in Obstetrics and Gynecology

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Sacrococcygeal teratoma is a rare neoplasm that arises from a totipotent stem cell in Henson’s node. It has rarely been associated with chromosomal abnormalities. We present a unique case of a 25-year-old primigravida at 19 weeks and 5 days of gestation found to have an exophytic complex mass with cystic and solid components in the sacral region. This mass was consistent with a sacrococcygeal teratoma. The patient had originally declined genetic screening. After the ultrasound and genetic counseling, she opted to have cell-free fetal DNA screening that was positive for Trisomy 13. Amniocentesis was performed to confirm the diagnosis. The karyotype demonstrated an abnormality of chromosome 13 and microarray demonstrated a complex structural abnormality of chromosome 13 with large regions of copy number gain. The patient underwent a dilation and evacuation at 23 weeks and 2 days. No fetal autopsy was done. This is a case of a prenatally diagnosed sacrococcygeal teratoma associated with Trisomy 13. It illustrates the diagnostic importance of amniocentesis in setting of fetal anatomical abnormalities on ultrasound. For patients who are reluctant to undergo amniocentesis, cell-free DNA results may provide the additional evidence of the need for diagnostic tests.

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Section: Discussionmentioning

confidence: 80%

Prenatal Sacrococcygeal Teratoma Diagnosed in a Fetus with Partial Trisomy 13q22

Dalal

Berry

Pimentel

2019

Case Reports in Obstetrics and Gynecology

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“…One of the deaths reported in this series fits this context. The second death was related to complications due to the presence of Patau's syndrome [25][26][27] .…”

Section: Discussionmentioning

confidence: 99%

Sacrococcygeal teratoma: evaluation of its approach, treatment and follow-up in two reference children cancer centers in Brazil / Rio de Janeiro

SANTOS

Coelho

Vieira

2022

Rev. Col. Bras. Cir.

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Introduction: sacrococcygeal teratoma (TSC) is the most common tumor of the neonatal period. Alphafetoprotein is an important tumor marker and is used in the follow-up period as a marker of malignancy. The complete surgical resection of the tumor associated with coccygectomy is the standard treatment and chemotherapy in different stages are necessary. Follow-up consists of serial exam: tumor markers, imaging searching to possible metastasis sites, in addition to a complete physical examination. Methodology: a descriptive, retrospective, study was carried out by analyzing a chart of 25 patients of two different reference children cancer center; with TSC in the State of Rio de Janeiro from 2004 to 2019. The clinical and epidemiological data collected were described and a comparison was made between these two centers studied. Results: the sociodemographic characteristics found were similar to those described in the medical literature. Data related to treatment and follow-up, such as the use of chemotherapy, use of specific imaging tests, digital rectal examination, and outpatient follow-up, differed between the two centers studied. There was a 25% loss of follow-up. Conclusion: the characteristic of being a non-cancer center can interfere with the full application of the current protocol for the treatment of sacrococcygeal teratoma. The knowledge of the data of the studied cases can allow the optimization of the approach of the patients with this pathology and generate discussions about the integral application of the specific therapeutic protocol in the medical centers that are qualified for such treatment.

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A tumor profile in Patau syndrome (trisomy 13)

Satgé¹,

Nishi

Sirvent

et al. 2017

American J of Med Genetics Pt A

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Individuals with trisomic conditions like Down syndrome and Edwards syndrome are prone to certain types of malignancy. However, for Patau syndrome (constitutional trisomy 13), which occurs in 1/10,000-1/20,000 live births, the tumor profile has not been well characterized. An awareness of susceptibility to malignancies can improve care of affected individuals, as well as further our understanding of the contribution of trisomy to carcinogenesis. Therefore, we conducted an extensive review of the literature; we found 17 malignancies reported in individuals with Patau syndrome. These comprised eight embryonic tumors, three leukemias, two malignant germ cell tumors, two carcinomas, a malignant brain tumor, and a sarcoma. Benign tumors were mainly extragonadal teratomas. The small number of reported malignant tumors suggests that there is not an increased risk of cancer in the context of trisomy 13. The tumor profile in Patau syndrome differs from that observed in Edwards syndrome (trisomy 18) and Down syndrome (trisomy 21), suggesting that the supernumerary chromosome 13 could promote particular tumor formations as it does particular malformations. No general and direct relationships of tumor occurrence with organ weight, congenital malformations, histological changes, or presence of tumor suppressor genes on chromosome 13 were observed. However, some tumors were found in tissues whose growth and development are controlled by genes mapping to chromosome 13. Recent reports of successful outcomes following surgical treatment and adapted chemotherapy indicate that treatment of cancer is possible in Patau syndrome.

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Sacrococcygeal Teratoma associated with Trisomy 13

Cited by 7 publications

References 7 publications

Prenatal Sacrococcygeal Teratoma Diagnosed in a Fetus with Partial Trisomy 13q22

Prenatal Sacrococcygeal Teratoma Diagnosed in a Fetus with Partial Trisomy 13q22

Sacrococcygeal teratoma: evaluation of its approach, treatment and follow-up in two reference children cancer centers in Brazil / Rio de Janeiro

A tumor profile in Patau syndrome (trisomy 13)

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