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Rare Presentation of Yolk Sac Tumor with Cardiac Involvement: Characteristics Detected by MRI

Keywords
Heart Neoplasms; Heart Failure; Neoplasms, Germ Cell and Embryonal; Diagnostic, Imaging; Echocardiography, Transthoracic/methods; Magnetic Resonance, Spectroscopy/methods; Drug Therapy

Introduction

Primary cardiac tumors are extremely rare, with their incidence varying between 0.0017 and 0.28%, among which is the malignant germ cell yolk sac tumor (YST).11 Isaacs H Jr. Fetal and neonatal cardiac tumors. Pediatr Cardiol. May-Jun 2004;25(3):252-73. doi: 10.1007/s00246-003-0590-4.
https://doi.org/10.1007/s00246-003-0590-...

Although transthoracic echocardiography (TTE) is often the first line in the evaluation of cardiac tumors, currently, due to its good spatial resolution and tissue characterization, cardiac magnetic resonance (CMR) imaging is the technique of choice for the evaluation of these tumors.22 Sánchez A, Insa A, Carrasco Moreno J, Cano Sánchez A, Moya Bonora A, Sáez Palacios JM. Tumores cardíacos primarios en la infancia. Anal Pediatría Jul2008;69(1): 15-22. doi: 10.1157/13124213.
https://doi.org/10.1157/13124213...
,33 Tumma R, Dong W, Wang J, Litt H, Han Y. Evaluation of cardiac masses by CMR-strengths and pitfalls: a tertiary center experience. Int J Cardiovasc Imaging. 2016 Jun;32(6):913-20. doi: 10.1007/s10554-016-0845-9.
https://doi.org/10.1007/s10554-016-0845-...
The intracardiac YST is a rare neoplasm, with few reported cases.44 Luryann S, Sasaki V, Carvalho Collarile Y, Azevedo Nicodemos I, Queen Joana A. Yolk sac primary tumor of mediastino: a rare case in a young adult. Einstein (SP) 2017 Dec;15(4):496-9. Epub Sep 21, 2017. https://doi.org/10.1590/s1679-45082017rc4008.
https://doi.org/10.1590/s1679-45082017rc...
77 Isom N, Rali AS, Damjanov I, Hubbard K, Grigsby J, Gupta K. Right Ventricular Heart Failure from a Cardiac Yolk Sac Tumor. Am J Case Rep. 2018 Mar 2;19:229-33. doi: 10.12659/ajcr.907639
https://doi.org/10.12659/ajcr.907639...

Case report

A one-year-old female patient presented with episodes of cyanosis when crying. On physical examination, she had a heart rate of 132 bpm, a 2+/6+ systolic murmur, fixed splitting of the second heart sound, adequate perfusion, with wide pulses. Due to the signs of heart failure, a TTE was performed, which showed a heterogeneous and multilobulated mass in the right ventricle (RV), next to the interventricular septum, with an estimated area of 7.8 cm², some cystic areas and signs of calcification, with signs of obstruction in the right ventricle outflow tract (RVOT) (Figure 1).

Figure 1
Transthoracic echocardiogram. (A) Longitudinal 3-chamber view in diastole showing heterogeneous mass in the RV (arrow). (B) Short axis with signs of RVOT obstruction (arrow). (C) Coronal 4-chamber lobulated image with projection to the RV (arrow). LV: left ventricle; RV: right ventricle; LA: left atrium; AO: aorta; RA: right atrium; RVOT: right ventricular outflow tract.

A CMR (Figures 2 and 3) was performed, which showed an expansive formation with a wide insertion base in the interventricular septum, showing no cleavage plane with the adjacent myocardium, with lobulated contours, extending into the RV cavity, measuring approximately 38 x 35 x 43 mm. This lesion had intermingled cystic areas, exhibiting low heterogeneous signal on T1 and a slightly high, equally heterogeneous signal on T2, in addition to heterogeneous gadolinium uptake in the late gadolinium enhancement (LGE) sequence, and contrast uptake in the perfusion sequence. The biopsy of a pulmonary lesion described as an epithelioid malignant neoplasm with extensive necrosis was performed, with a mitotic index of 10 mitoses x field and positive immunohistochemistry for SALL4, alpha-fetoprotein and PLAP in the cells of interest, being consistent with a germ cell neoplasm, compatible with a yolk sac tumor.

Figure 2
Cardiac magnetic resonance with steady-state free precession pulse sequence. (A) Longitudinal 3-chamber view in systole showing an expansive mass located in the intraventricular septum (arrow). (B) Short axis axial view showing mass with extension to the RV (arrow). (C) Short-axis axial view showing tumor obstruction in the RVOT (arrow). LV: left ventricle; RV: right ventricle; LA: left atrium; AO: aorta; RA: right atrium; RVOT: right ventricular outflow tract.
Figure 3
Cardiac magnetic resonance imaging. Tissue characteristics (A) FSE sequence without contrast, with fat saturation, 4-chamber coronal view, showing heterogeneous hyposignal in the septum (arrow). (B) T2-weighted FSE sequence without contrast, with triple inversion-recovery, 4-chamber axial view, showing a minimal increase in heterogeneous signal in the septum (arrow). (C) Late enhancement sequence, 4-chamber coronal view, presence of heterogeneous delayed enhancement in the septum (arrow). LV: left ventricle; RV: right ventricle; LA: left atrium; RA: right atrium.

The patient was submitted to chemotherapy with cisplatin, but the control exams to assess disease evolution showed no significant changes in the TTE findings. Currently, a surgical approach is scheduled due to refractoriness to the chemotherapy.

Discussion

The characteristics of malignant cardiac tumors, which include the germ cell ones, have been studied in some reviews. CMR imaging is considered the method of choice for their evaluation, since it shows high accuracy in discriminating benign from malignant lesions, assesses the location, size and contours of the lesion. Moreover, the CMR has a significant diagnostic value for the signal characteristics of tissue components inside the tumors, including calcification, fat, fibrosis, hemorrhage, and cystic changes.88 Li X, Chen Y, Liu J, Xu L, Li Y, Liu D, et al. Cardiac magnetic resonance imaging of primary cardiac tumors. Quant Imaging Med Surg. 2020 Jan;10(1):294-313. doi: 10.21037/qims.2019.11.13.
https://doi.org/10.21037/qims.2019.11.13...
Of the germ cell tumors, the main characteristics visualized by CMR are the delayed heterogeneous gadolinium enhancement, and on cine-resonance and T1- and T2-weighted sequences, also a heterogeneous intensity.88 Li X, Chen Y, Liu J, Xu L, Li Y, Liu D, et al. Cardiac magnetic resonance imaging of primary cardiac tumors. Quant Imaging Med Surg. 2020 Jan;10(1):294-313. doi: 10.21037/qims.2019.11.13.
https://doi.org/10.21037/qims.2019.11.13...

Among the main features that suggest malignancy are tumor size >5cm, irregular contours, multiple lesions, pleural or pericardial involvement, direct invasion of tissue planes, right heart location, and tissue characteristics such as signal heterogeneity on T1- and T2-weighted sequences and presence of contrast enhancement in the first pass, suggesting lesion vascularization.99 Randhawa K, Ganeshan A, Hoey ET. Magnetic resonance imaging of cardiac tumors: part 2, malignant tumors and tumor-like conditions. Curr Probl Diagn Radiol. 2011 Jul-Aug;40(4):169-79. doi: 10.1067/j.cpradiol.2010.07.002.
https://doi.org/10.1067/j.cpradiol.2010....
,1010 Motwani M, Kidambi A, Herzog BA, Uddin A, Greenwood JP, Plein S, et al. MR Imaging of Cardiac Tumors and Masses: A Review of Methods and Clinical Applications. Radiology.2013 jul 1 jul;268(1):26-43. doi: 10.1148/radiol.13121239.
https://doi.org/10.1148/radiol.13121239...

Therefore, we highlight the great usefulness of CMR, in this case, as an aid in the diagnosis and suspicion of a tumor of malignant etiology through some of the previously described characteristics, such as location in the RV, more irregular contours, heterogeneous signals in the T1 and T2 and LGE, in addition to contrast uptake in the perfusion sequence, which were described in our patient.

The standard treatment of primary nonseminomatous tumors, such as the YST, is a combination of neoadjuvant systemic chemotherapy with bleomycin or cisplatin, together with attempted surgical resection.1111 Couto WJ, Gross JL, Deheinzelin D, Younes RN, Riad N. Tumores de células germinativas primários do mediastino. Rev Assoc Med Bras. 2006;52(3):182-6. doi: 10.1590/s0104-42302006000300020.
https://doi.org/10.1590/s0104-4230200600...

This case report describes a very rare case of primary cardiac yolk sac tumor with malignant features confirmed by biopsy, which did not show an adequate response to chemotherapy. The patient’s CMR showed some of the characteristics that added to the possibility of malignancy, such as the size and heterogeneous LGE. Currently, imaging techniques such as CMR are very useful and, in some cases, they constitute the methods of choice to attain an adequate diagnosis.

  • Sources of Funding
    There were no external funding sources for this study.
  • Study Association
    This study is not associated with any thesis or dissertation work.
  • Ethics approval and consent to participate
    This article does not contain any studies with human participants or animals performed by any of the authors.

Referências

  • 1
    Isaacs H Jr. Fetal and neonatal cardiac tumors. Pediatr Cardiol. May-Jun 2004;25(3):252-73. doi: 10.1007/s00246-003-0590-4.
    » https://doi.org/10.1007/s00246-003-0590-4
  • 2
    Sánchez A, Insa A, Carrasco Moreno J, Cano Sánchez A, Moya Bonora A, Sáez Palacios JM. Tumores cardíacos primarios en la infancia. Anal Pediatría Jul2008;69(1): 15-22. doi: 10.1157/13124213.
    » https://doi.org/10.1157/13124213
  • 3
    Tumma R, Dong W, Wang J, Litt H, Han Y. Evaluation of cardiac masses by CMR-strengths and pitfalls: a tertiary center experience. Int J Cardiovasc Imaging. 2016 Jun;32(6):913-20. doi: 10.1007/s10554-016-0845-9.
    » https://doi.org/10.1007/s10554-016-0845-9
  • 4
    Luryann S, Sasaki V, Carvalho Collarile Y, Azevedo Nicodemos I, Queen Joana A. Yolk sac primary tumor of mediastino: a rare case in a young adult. Einstein (SP) 2017 Dec;15(4):496-9. Epub Sep 21, 2017. https://doi.org/10.1590/s1679-45082017rc4008
    » https://doi.org/10.1590/s1679-45082017rc4008
  • 5
    Chintala K, Bloom DA, Walters HL, Pettersen MD. Images in cardiology: pericardial yolk sac tumor presenting as cardiac tamponade in a 21-month-old child. Clin Cardiol 2004;27(7):411. doi: 10.1002/clc.4960270709.
    » https://doi.org/10.1002/clc.4960270709
  • 6
    Morin MJ, Hopkins RA, Ferguson WS, Ziegler JW. Intracardiac yolk sac tumor and dysrhythmia as an etiology of pediatric syncope. Pediatrics. 2004 Apr;113(4):e374-6. doi: 10.1542/peds.113.4.e374.
    » https://doi.org/10.1542/peds.113.4.e374
  • 7
    Isom N, Rali AS, Damjanov I, Hubbard K, Grigsby J, Gupta K. Right Ventricular Heart Failure from a Cardiac Yolk Sac Tumor. Am J Case Rep. 2018 Mar 2;19:229-33. doi: 10.12659/ajcr.907639
    » https://doi.org/10.12659/ajcr.907639
  • 8
    Li X, Chen Y, Liu J, Xu L, Li Y, Liu D, et al. Cardiac magnetic resonance imaging of primary cardiac tumors. Quant Imaging Med Surg. 2020 Jan;10(1):294-313. doi: 10.21037/qims.2019.11.13.
    » https://doi.org/10.21037/qims.2019.11.13
  • 9
    Randhawa K, Ganeshan A, Hoey ET. Magnetic resonance imaging of cardiac tumors: part 2, malignant tumors and tumor-like conditions. Curr Probl Diagn Radiol. 2011 Jul-Aug;40(4):169-79. doi: 10.1067/j.cpradiol.2010.07.002.
    » https://doi.org/10.1067/j.cpradiol.2010.07.002
  • 10
    Motwani M, Kidambi A, Herzog BA, Uddin A, Greenwood JP, Plein S, et al. MR Imaging of Cardiac Tumors and Masses: A Review of Methods and Clinical Applications. Radiology.2013 jul 1 jul;268(1):26-43. doi: 10.1148/radiol.13121239.
    » https://doi.org/10.1148/radiol.13121239
  • 11
    Couto WJ, Gross JL, Deheinzelin D, Younes RN, Riad N. Tumores de células germinativas primários do mediastino. Rev Assoc Med Bras. 2006;52(3):182-6. doi: 10.1590/s0104-42302006000300020.
    » https://doi.org/10.1590/s0104-42302006000300020

Publication Dates

  • Publication in this collection
    11 July 2022
  • Date of issue
    July 2022

History

  • Received
    14 Apr 2021
  • Reviewed
    10 Nov 2021
  • Accepted
    08 Dec 2021
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