- Email: [email protected]
Fetiform Teratoma in the Ovary of a 7-Year-Old Girl: A Case Report
Accepted Manuscript Fetiform teratoma in the ovary of a 7-year-old: A case report Hanna R. Goldberg, MS, Lisa Allen, MD, Sari Kives, MD, MSc PII:
S1083-3188(16)30229-7
DOI:
10.1016/j.jpag.2016.10.007
Reference:
PEDADO 2057
To appear in:
Journal of Pediatric and Adolescent Gynecology
Received Date: 29 August 2016 Revised Date:
10 October 2016
Accepted Date: 11 October 2016
Please cite this article as: Goldberg HR, Allen L, Kives S, Fetiform teratoma in the ovary of a 7-year-old: A case report, Journal of Pediatric and Adolescent Gynecology (2016), doi: 10.1016/j.jpag.2016.10.007. This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.
ACCEPTED MANUSCRIPT
Fetiform teratoma in the ovary of a 7-year-old: A case report Hanna R. Goldberg1, MS, Lisa Allen2,3, MD, and Sari Kives2,3, MD, MSc
RI PT
Affiliations: 1Faculty of Medicine, University of Toronto, Toronto, Ontario; 2Section of
Gynecology, Hospital for Sick Children, Toronto, Ontario; 3Department of Obstetrics and Gynecology, University of Toronto, Ontario.
SC
Address Correspondence to: Sari Kives, Section of Gynecology, Hospital for Sick Children, 555 University Avenue, 7th Floor, Black Wing, Toronto, Ontario, M5G 1X8; Email:
M AN U
[email protected]; Phone: 416-813-6188; Fax: 416-813-6192.
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EP
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Funding: None
ACCEPTED MANUSCRIPT
Abstract Background: Fetiform teratoma, a highly differentiated mature cystic teratoma resembling a
describes the youngest case of ovarian fetiform teratoma.
RI PT
fetus, is rare and typically found in the ovaries of women of reproductive age. This report
Case: A 7-year-old female presented with acute abdominal pain. Radiological examinations
SC
revealed a 5.2 cm ovarian complex cystic mass with fetal-like components in favour of fetus-infetu (FIF) and teratoma. Following surgical removal, the mass resembled a fetus consisting of a
M AN U
head, two eye slits, two small upper limb projections, and hair. Pathology indicated mature cystic teratoma supporting the diagnosis of fetiform teratoma.
Summary and Conclusion: Although not commonly found in children, fetiform teratoma must
AC C
EP
TE D
be considered in the diagnosis of a child presenting with an adnexal mass resembling a fetus.
2
ACCEPTED MANUSCRIPT
Introduction Fetiform teratoma, also referred to as homunculus, is a term used to describe a highly differentiated mature cystic teratoma resembling a fetus.1 Fetiform teratomas are most commonly
RI PT
found in the ovary.1 They are extremely rare, with only a small number of cases reported in the literature.2 Ovarian fetiform teratomas have occurred in patients as young as 9 years old,
however, more commonly present in women of reproductive age.2 In this report, we present a
SC
case of ovarian fetiform teratoma in a 7-year-old female, which is the youngest case to be
AC C
EP
TE D
M AN U
described thus far.
3
ACCEPTED MANUSCRIPT
The Case A 7-year-old premenarchal female presented to the emergency room at The Hospital for Sick Children (SickKids) in Toronto, Canada, with acute abdominal pain that began several
RI PT
hours prior. The pain was localized to the right lower quadrant and radiated down her right leg. She denied any associated symptoms, such as nausea or vomiting. On physical exam, vital signs were stable and the abdomen was soft but tender diffusely. She was given acetaminophen,
SC
ibuprofen, and morphine.
Her past medical and surgical history was significant for a double aortic arch which was
M AN U
operated on at 19 days of life, as well as laryngomalacia, and tracheomalacia that had both resolved. Additionally, the patient had a mosaic 7;14 translocation. Her family history was unremarkable. The patient was not taking medication and had no allergies. Ultrasound showed an ovarian complex cystic mass with internal heterogeneous soft
TE D
tissue components, reminiscent of fetal parts. The mass measured to be 4.1 x 4.8 x 5.2 cm and was located in the midline of the pelvis (Figure 1). There was no vascularity seen within this lesion or within the ovary. MRI confirmed a complex cyst with solid components measuring to
EP
be 4.8 x 3.7 x 3.6 cm. The differential diagnosis was fetus-in-fetu and teratoma. Laboratory tests revealed a white blood cell count of 10.2 x109/L, hemoglobin of 128 g/L
AC C
and platelet count of 439 x 109 L, all within normal range. Tumor markers were within normal range (alpha-fetoprotein 2 µg, CA125 30 U/L, and hCG <1 U/L). Lactate dehydrogenase was, however, elevated at 986 U/L. A mini laparotomy was performed because of concern for possible malignancy. Ovarian
torsion was confirmed, and detorsion and controlled ovarian cystectomy were performed. The
4
ACCEPTED MANUSCRIPT
mass was removed and sent to pathology for analysis. Additionally, a small sample of the mass was taken for genetic testing, the results of which are still pending. Grossly, the mass appeared to resemble a fetus with a head and two eye slits. The more
RI PT
calcified portion beneath the head had two small projections which resembled arms. Hair was also present. Overall, the cranial aspect was more developed than the caudal aspect (Figure 2). The mass did not contain an axial skeleton or internal organs.
SC
The pathology report indicated a mature cystic teratoma with extensive necrosis
secondary to torsion. There was no evidence of immature elements or malignancy. Given that the
M AN U
mass highly resembled a fetus, a diagnosis was made of fetiform teratoma.
Post-operatively, the patient did well. As the recurrence rate of mature cystic teratoma
AC C
EP
TE D
following ovarian cystectomy is as high as 10%, repeat imaging is planned in 6-12 months.3
5
ACCEPTED MANUSCRIPT
Summary and Conclusion Ovarian mature cystic teratomas, also referred to as dermoid cysts, represent 20% to 40% of all ovarian neoplasms, and are the most common type of neoplastic lesion diagnosed in
RI PT
children and adolescents.3 Mature cystic teratomas are benign neoplasms of germ cell origin, most likely arising from the parthogenetic activation of an oocyte after the first stage of meiosis.4 They contain tissues from one or more of endoderm, mesoderm and ectoderm.5 Thus, mature
SC
cystic teratomas may consist of hair, teeth, epidermis or calcified bone in a disorganized manner.5
M AN U
Rarely, mature cystic teratomas can be highly differentiated and may grossly resemble a fetus.1 In such cases, these masses are termed fetiform teratomas.1 Twenty-eight cases of ovarian fetiform teratoma were found in the literature. Patients presented between the ages of 9 and 65, however, most cases occurred in patients that were between the ages of 20 and 40.6 The current
TE D
report describes an ovarian fetiform teratoma in a 7-year-old girl and therefore is the youngest case documented in the literature.
Similar to fetiform teratoma, fetus-in-fetu (FIF) is a benign mass that may consist of
EP
tissues from all three germ cell layers. Initially defined by Willis in 1953, FIF occurs when a monozygotic, diamniotic twin is incorporated into the body of its twin.7 FIF is very rare,
AC C
occurring once in every 500,000 births.8 It can be difficult to differentiate from fetiform teratoma since radiological and histological examinations are often similar.8 Previous research has elucidated three ways in which preoperative and postoperative
investigations can help to distinguish fetiform teratoma from FIF. Firstly, clinical presentation of the two pathologies differ.2 FIF is typically retroperitoneal and most commonly found in infancy and early childhood.2,8 Fetiform teratomas, however, are most commonly found in the ovaries of
6
ACCEPTED MANUSCRIPT
women of reproductive age.2 Second, FIF contains a vertebral column with limb buds or organs around the central axis.7 Fetiform teratomas, however, do not contain internal organs, and only one case with a vertebral column has been reported.4,7 Finally, the two pathologies also differ
RI PT
based on zygosity.2,4 FIF shares identical genetics to that of its host, whereas fetiform teratomas are homozygous.4
While FIF is generally a benign pathology, approximately 0.5-2% of mature cystic
SC
teratomas are malignant.3 Both pathologies require complete resection of the mass.3,8 Following removal of fetiform teratomas, it is recommended that the patient undergo ultrasonography at a
M AN U
single follow-up visit 12 months post-operatively because of the risk of persistence or reccurence.3 Although only one case report in the literature described malignant recurrence with FIF, post-operative imaging as well as assessment of tumor markers is recommended.8 In conclusion, this case report describes a fetiform teratoma in the ovary of a 7-year-old
TE D
girl. While ovarian fetiform teratomas are not common in young patients, it is certainly possible for them to develop in a child and must be considered in the diagnosis of an adnexal mass with components resembling fetal parts. Fetiform teratoma can be difficult to differentiate from FIF
EP
since radiological and histological examinations are often similar. Assessing the clinical presentation, examining the specimen for an axial skeleton and internal organs, and performing
AC C
genetic testing of the mass can assist in differentiating the two pathologies. Fortunately, both diagnoses have a favourable prognosis.
7
ACCEPTED MANUSCRIPT
References
7. 8.
RI PT
SC
5. 6.
M AN U
4.
TE D
3.
EP
2.
Scully RE. Classification of Human Ovarian Tumors. Environ Health Perspect. 1987;73:15-24. Weiss JR, Burgess JR, Kaplan KJ. Fetiform teratoma (homunculus). Arch Pathol Lab Med. 2006;130:1552-1556. Rogers EM, Allen L, Kives S. The recurrence rate of ovarian dermoid cysts in pediatric and adolescent girls. J Pediatr Adolesc Gynecol. 2014;27:222-226. Kuno N, Kadomatsu K, Nakamura M, Miwa-Fukuchi T, Hirabayashi N, Ishizuka T. Mature ovarian cystic teratoma with a highly differentiated homunculus: a case report. Birth Defects Res Part A Clin Mol Teratol. 2004;70(1):40-46. Menke J, Schwarz A. Ovarian dermoid cyst with teeth. BMJ Case Rep. 2013;2013. Abbott TM, Hermann WJ, Jr., Scully RE. Ovarian fetiform teratoma (homunculus) in a 9year-old girl. Int J Gynecol Pathol. 1984;2(4):392-402. Willis R. The structure of teratomata. J Pathol Bacteriol. 1935;40:1-36. Ji Y, Song B, Chen S, et al. Fetus in fetu in the scrotal sac: case report and literature review. Medicine. 2015;94(32).
AC C
1.
8
ACCEPTED MANUSCRIPT
Legends Figure 1. Ultrasound of the ovary. Complex cystic mass with internal heterogeneous soft tissue components resembling a fetus.
RI PT
Figure 2. Postoperative specimen resembling a fetus with a head, two eye slits, and two small
AC C
EP
TE D
M AN U
SC
projections resembling arms.
9
AC C
EP
TE D
M AN U
SC
RI PT
ACCEPTED MANUSCRIPT
AC C
EP
TE D
M AN U
SC
RI PT
ACCEPTED MANUSCRIPT
S1083-3188(16)30229-7
DOI:
10.1016/j.jpag.2016.10.007
Reference:
PEDADO 2057
To appear in:
Journal of Pediatric and Adolescent Gynecology
Received Date: 29 August 2016 Revised Date:
10 October 2016
Accepted Date: 11 October 2016
Please cite this article as: Goldberg HR, Allen L, Kives S, Fetiform teratoma in the ovary of a 7-year-old: A case report, Journal of Pediatric and Adolescent Gynecology (2016), doi: 10.1016/j.jpag.2016.10.007. This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.
ACCEPTED MANUSCRIPT
Fetiform teratoma in the ovary of a 7-year-old: A case report Hanna R. Goldberg1, MS, Lisa Allen2,3, MD, and Sari Kives2,3, MD, MSc
RI PT
Affiliations: 1Faculty of Medicine, University of Toronto, Toronto, Ontario; 2Section of
Gynecology, Hospital for Sick Children, Toronto, Ontario; 3Department of Obstetrics and Gynecology, University of Toronto, Ontario.
SC
Address Correspondence to: Sari Kives, Section of Gynecology, Hospital for Sick Children, 555 University Avenue, 7th Floor, Black Wing, Toronto, Ontario, M5G 1X8; Email:
M AN U
[email protected]; Phone: 416-813-6188; Fax: 416-813-6192.
AC C
EP
TE D
Funding: None
ACCEPTED MANUSCRIPT
Abstract Background: Fetiform teratoma, a highly differentiated mature cystic teratoma resembling a
describes the youngest case of ovarian fetiform teratoma.
RI PT
fetus, is rare and typically found in the ovaries of women of reproductive age. This report
Case: A 7-year-old female presented with acute abdominal pain. Radiological examinations
SC
revealed a 5.2 cm ovarian complex cystic mass with fetal-like components in favour of fetus-infetu (FIF) and teratoma. Following surgical removal, the mass resembled a fetus consisting of a
M AN U
head, two eye slits, two small upper limb projections, and hair. Pathology indicated mature cystic teratoma supporting the diagnosis of fetiform teratoma.
Summary and Conclusion: Although not commonly found in children, fetiform teratoma must
AC C
EP
TE D
be considered in the diagnosis of a child presenting with an adnexal mass resembling a fetus.
2
ACCEPTED MANUSCRIPT
Introduction Fetiform teratoma, also referred to as homunculus, is a term used to describe a highly differentiated mature cystic teratoma resembling a fetus.1 Fetiform teratomas are most commonly
RI PT
found in the ovary.1 They are extremely rare, with only a small number of cases reported in the literature.2 Ovarian fetiform teratomas have occurred in patients as young as 9 years old,
however, more commonly present in women of reproductive age.2 In this report, we present a
SC
case of ovarian fetiform teratoma in a 7-year-old female, which is the youngest case to be
AC C
EP
TE D
M AN U
described thus far.
3
ACCEPTED MANUSCRIPT
The Case A 7-year-old premenarchal female presented to the emergency room at The Hospital for Sick Children (SickKids) in Toronto, Canada, with acute abdominal pain that began several
RI PT
hours prior. The pain was localized to the right lower quadrant and radiated down her right leg. She denied any associated symptoms, such as nausea or vomiting. On physical exam, vital signs were stable and the abdomen was soft but tender diffusely. She was given acetaminophen,
SC
ibuprofen, and morphine.
Her past medical and surgical history was significant for a double aortic arch which was
M AN U
operated on at 19 days of life, as well as laryngomalacia, and tracheomalacia that had both resolved. Additionally, the patient had a mosaic 7;14 translocation. Her family history was unremarkable. The patient was not taking medication and had no allergies. Ultrasound showed an ovarian complex cystic mass with internal heterogeneous soft
TE D
tissue components, reminiscent of fetal parts. The mass measured to be 4.1 x 4.8 x 5.2 cm and was located in the midline of the pelvis (Figure 1). There was no vascularity seen within this lesion or within the ovary. MRI confirmed a complex cyst with solid components measuring to
EP
be 4.8 x 3.7 x 3.6 cm. The differential diagnosis was fetus-in-fetu and teratoma. Laboratory tests revealed a white blood cell count of 10.2 x109/L, hemoglobin of 128 g/L
AC C
and platelet count of 439 x 109 L, all within normal range. Tumor markers were within normal range (alpha-fetoprotein 2 µg, CA125 30 U/L, and hCG <1 U/L). Lactate dehydrogenase was, however, elevated at 986 U/L. A mini laparotomy was performed because of concern for possible malignancy. Ovarian
torsion was confirmed, and detorsion and controlled ovarian cystectomy were performed. The
4
ACCEPTED MANUSCRIPT
mass was removed and sent to pathology for analysis. Additionally, a small sample of the mass was taken for genetic testing, the results of which are still pending. Grossly, the mass appeared to resemble a fetus with a head and two eye slits. The more
RI PT
calcified portion beneath the head had two small projections which resembled arms. Hair was also present. Overall, the cranial aspect was more developed than the caudal aspect (Figure 2). The mass did not contain an axial skeleton or internal organs.
SC
The pathology report indicated a mature cystic teratoma with extensive necrosis
secondary to torsion. There was no evidence of immature elements or malignancy. Given that the
M AN U
mass highly resembled a fetus, a diagnosis was made of fetiform teratoma.
Post-operatively, the patient did well. As the recurrence rate of mature cystic teratoma
AC C
EP
TE D
following ovarian cystectomy is as high as 10%, repeat imaging is planned in 6-12 months.3
5
ACCEPTED MANUSCRIPT
Summary and Conclusion Ovarian mature cystic teratomas, also referred to as dermoid cysts, represent 20% to 40% of all ovarian neoplasms, and are the most common type of neoplastic lesion diagnosed in
RI PT
children and adolescents.3 Mature cystic teratomas are benign neoplasms of germ cell origin, most likely arising from the parthogenetic activation of an oocyte after the first stage of meiosis.4 They contain tissues from one or more of endoderm, mesoderm and ectoderm.5 Thus, mature
SC
cystic teratomas may consist of hair, teeth, epidermis or calcified bone in a disorganized manner.5
M AN U
Rarely, mature cystic teratomas can be highly differentiated and may grossly resemble a fetus.1 In such cases, these masses are termed fetiform teratomas.1 Twenty-eight cases of ovarian fetiform teratoma were found in the literature. Patients presented between the ages of 9 and 65, however, most cases occurred in patients that were between the ages of 20 and 40.6 The current
TE D
report describes an ovarian fetiform teratoma in a 7-year-old girl and therefore is the youngest case documented in the literature.
Similar to fetiform teratoma, fetus-in-fetu (FIF) is a benign mass that may consist of
EP
tissues from all three germ cell layers. Initially defined by Willis in 1953, FIF occurs when a monozygotic, diamniotic twin is incorporated into the body of its twin.7 FIF is very rare,
AC C
occurring once in every 500,000 births.8 It can be difficult to differentiate from fetiform teratoma since radiological and histological examinations are often similar.8 Previous research has elucidated three ways in which preoperative and postoperative
investigations can help to distinguish fetiform teratoma from FIF. Firstly, clinical presentation of the two pathologies differ.2 FIF is typically retroperitoneal and most commonly found in infancy and early childhood.2,8 Fetiform teratomas, however, are most commonly found in the ovaries of
6
ACCEPTED MANUSCRIPT
women of reproductive age.2 Second, FIF contains a vertebral column with limb buds or organs around the central axis.7 Fetiform teratomas, however, do not contain internal organs, and only one case with a vertebral column has been reported.4,7 Finally, the two pathologies also differ
RI PT
based on zygosity.2,4 FIF shares identical genetics to that of its host, whereas fetiform teratomas are homozygous.4
While FIF is generally a benign pathology, approximately 0.5-2% of mature cystic
SC
teratomas are malignant.3 Both pathologies require complete resection of the mass.3,8 Following removal of fetiform teratomas, it is recommended that the patient undergo ultrasonography at a
M AN U
single follow-up visit 12 months post-operatively because of the risk of persistence or reccurence.3 Although only one case report in the literature described malignant recurrence with FIF, post-operative imaging as well as assessment of tumor markers is recommended.8 In conclusion, this case report describes a fetiform teratoma in the ovary of a 7-year-old
TE D
girl. While ovarian fetiform teratomas are not common in young patients, it is certainly possible for them to develop in a child and must be considered in the diagnosis of an adnexal mass with components resembling fetal parts. Fetiform teratoma can be difficult to differentiate from FIF
EP
since radiological and histological examinations are often similar. Assessing the clinical presentation, examining the specimen for an axial skeleton and internal organs, and performing
AC C
genetic testing of the mass can assist in differentiating the two pathologies. Fortunately, both diagnoses have a favourable prognosis.
7
ACCEPTED MANUSCRIPT
References
7. 8.
RI PT
SC
5. 6.
M AN U
4.
TE D
3.
EP
2.
Scully RE. Classification of Human Ovarian Tumors. Environ Health Perspect. 1987;73:15-24. Weiss JR, Burgess JR, Kaplan KJ. Fetiform teratoma (homunculus). Arch Pathol Lab Med. 2006;130:1552-1556. Rogers EM, Allen L, Kives S. The recurrence rate of ovarian dermoid cysts in pediatric and adolescent girls. J Pediatr Adolesc Gynecol. 2014;27:222-226. Kuno N, Kadomatsu K, Nakamura M, Miwa-Fukuchi T, Hirabayashi N, Ishizuka T. Mature ovarian cystic teratoma with a highly differentiated homunculus: a case report. Birth Defects Res Part A Clin Mol Teratol. 2004;70(1):40-46. Menke J, Schwarz A. Ovarian dermoid cyst with teeth. BMJ Case Rep. 2013;2013. Abbott TM, Hermann WJ, Jr., Scully RE. Ovarian fetiform teratoma (homunculus) in a 9year-old girl. Int J Gynecol Pathol. 1984;2(4):392-402. Willis R. The structure of teratomata. J Pathol Bacteriol. 1935;40:1-36. Ji Y, Song B, Chen S, et al. Fetus in fetu in the scrotal sac: case report and literature review. Medicine. 2015;94(32).
AC C
1.
8
ACCEPTED MANUSCRIPT
Legends Figure 1. Ultrasound of the ovary. Complex cystic mass with internal heterogeneous soft tissue components resembling a fetus.
RI PT
Figure 2. Postoperative specimen resembling a fetus with a head, two eye slits, and two small
AC C
EP
TE D
M AN U
SC
projections resembling arms.
9
AC C
EP
TE D
M AN U
SC
RI PT
ACCEPTED MANUSCRIPT
AC C
EP
TE D
M AN U
SC
RI PT
ACCEPTED MANUSCRIPT