Sacrococcygeal teratoma in a female newborn with clinical features of trisomy 13: a case report from Central Africa

Lubala, Toni Kasole; Mukuku, Olivier; Shongo, Mick Pongombo; Mutombo, Augustin Mulangu; Lubala, Nina; Luboya, Oscar Numbi; Lukusa-Tshilobo, Prosper

doi:10.2147/imcrj.s86098

Cited by 3 publications

(3 citation statements)

References 22 publications

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“…This was a clinical diagnosis that was not able to be confirmed due to lack of resources, including karyotype and comparative genomic hybridization. This neonate presented with a bilateral cleft lip and palate, hypotelorism, microcephaly and had a large sacrococcygeal mass with a cystic consistency [4]. The features were clinically consistent with Trisomy 13.…”

Section: Discussionmentioning

confidence: 99%

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: 99%

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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“…Usually, teratomas are found in sacrococcygeal area in 57% of cases among children [4,19], that account for 1 per 21,700-35,000 live births [22,23]. That form is rare among adults (incidence of 1:87,000) [9].…”

Section: Discussion Epidemiologymentioning

confidence: 99%

“…Trisomy can concern the chromosomes 1q, 3, 7, 8, 15, 21 and chromosomes 12, 13 [27,30]. Fetal congenital anomalies due to the meiotic errors as Patau syndrome or Down syndrome can also be associated with teratoma in child [2,23].…”

Section: Conclusion and Reasoningmentioning

confidence: 99%

Mature Cystic Ovarian Teratoma: A Study of 43 Congolese Cases

Poaty¹,

Mboungou²,

Mavoungou³

et al. 2018

Hereditary Genet Curr Res

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Background: The mature cystic ovarian teratoma (MCOT) is a common benign ovarian neoplasm in the world, most prevalent among women of childbearing age. It is a disease related to parental imprinting in which genome is exclusively maternal. The purpose of the study was to review the tumour features in Congolese patients in order to clarify its prevalence, and its histological forms and to report the eventual associated chromosomal anomalies described in literature. Methods: It was a retrospective study of MCOT seen in University Teaching Hospital of Brazzaville for a period of seven years, and five DNAs previously extracted from five MCOT. Two antibodies: DLK1 and TIMP2 were also studied by immunohistochemistry (IHC). The confirmed positive diagnosis was performed by Hematoxylin-Eosin method. The eventual presence of chromosomal anomalies was investigated by metaphasic Comparative Genomic Hybridization (mCGH) method. IHC analysis had permit to verify expression of paternal imprinted gene DLK1 expression compared to maternal imprinted gene TIMP2. Results: During the study period, a total of 215 cases of ovarian neoplasms have been seen, from which 20% (43/215 cases) with confidence interval (CI) 95% = [14.7%-25.3%] were diagnosed MCOT. They represent 38.7% (43/111 cases) (IC 95% = [29.9%-48.1%]) of all benign ovarian tumors and they account for 0.4% (43/10170) of all tumors diagnosed during the study period. The average age of patients having MCOT was 30.7 years with extreme ranging from 2 to 70 years. Cutaneous tissue was the most prevalent histological form. About IHC analysis, no staining was observed with mono-allelic paternal gene DLK1 contrasting with high TIMP2 staining of nuclear stem cells in the basal layer of the epidermis. Concerning mCGH, no profile revealed chromosomal rearrangements. Conclusion: The benign ovarian teratoma remains a common ovarian neoplasm in young Congolese women in reproductive age. The predominant skin tissue form signed the current called ovarian dermoid cyst. The CGH analysis in our study revealed that pathology is not associated with chromosomal anomalies, but some associations are described in literature.

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