Type II pleuropulmonary blastoma in a fetus: case report of a rare mesenchymal mediastinal tumor and literature review
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Abstract
Mediastinal tumors are exceedingly rare during fetal development, presenting significant diagnostic challenges and potentially leading to severe outcomes such as stillbirth or metastatic disease if not promptly identified and managed. Pleuropulmonary blastomas are primitive mesenchymal tumors often linked to mutations in the DICER1 gene, indicating a hereditary pattern associated with other common adult neoplasms with dominant inheritance. This report describes a case involving a 20-year-old Caucasian woman whose pregnancy was complicated by a stillbirth in the second trimester. Initial suspicions of a mediastinal tumor arose from blood tests and ultrasound examinations during pregnancy surveillance. However, the definitive diagnosis of a type II pleuropulmonary blastoma was established through a pathological examination at autopsy. This case underscores the complexities of diagnosing fetal mediastinal tumors and contributes to the sparse literature on neonatal pleuropulmonary blastomas. Our comprehensive review of the differential diagnoses and literature emphasizes the unique characteristics of pleuropulmonary blastoma and its similarities to other soft tissue sarcomas, enhancing understanding of their clinical and genetic profiles.
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type II pleuropulmonary blastoma, mediastinal tumor, mesenchymal tumor, DICER1 gene, fetus, immunohistochemistry
2. Agha RA, Franchi T, Sohrabi C, et al. The SCARE 2020 Guideline: Updating Consensus Surgical CAse REport (SCARE) Guidelines. Int J Surg. 2020 Dec;84:226-230. doi: 10.1016/j.ijsu.2020.10.034. PMID: 33181358.
3. Rennes University Hospital. Review of the Paediatric Pleuropulmonary Blastoma French Series. clinicaltrials.gov; 2020 Aug. Report No.: NCT03044834. [https://clinicaltrials.gov/study/NCT03044834 available at 6.06.2024].
4. Ruchonnet-Métrailler I. Follow up of Congenital Lung Anomalies (CLA) With Antenatal Diagnosis - a Swiss Multicentric Database. clinicaltrials.gov; 2020 Apr. Report No.: NCT03044769. [https://clinicaltrials.gov/study/NCT03044769 available at 6.06.2024].
5. Hill A. The International PPB/DICER1 Registry [Internet]. PPB Registry. [https://www.ppbregistry.org/about-the-registry/ available at 6.06.2024].
6. National Cancer Institute (NCI). DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study. clinicaltrials.gov; 2024 May. Report No.: NCT01247597. [https://clinicaltrials.gov/study/NCT01247597 available at 9.06.2024].
7. Schultz KA. International Pleuropulmonary Blastoma (PPB) Treatment and Biology Registry Protocol. clinicaltrials.gov; 2021 May. Report No.: NCT01464606. [https://clinicaltrials.gov/study/NCT01464606 available at 6.06.2024].
8. Children’s Oncology Group. A Phase 2 Study of IMGN901 (Lorvotuzumab Mertansine; NSC#: 783609) in Children With Relapsed or Refractory Wilms Tumor, Rhabdomyosarcoma, Neuroblastoma, Pleuropulmonary Blastoma, Malignant Peripheral Nerve Sheath Tumor (MPNST) and Synovial Sarcoma. clinicaltrials.gov; 2022 Jan. Report No.: NCT02452554. [https://clinicaltrials.gov/study/NCT02452554 available at 6.06.2024].
9. van Engelen K, Villani A, Wasserman JD, et al. DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center. Pediatr Blood Cancer. 2018 Jan;65(1). doi: 10.1002/pbc.26720. PMID: 28960912.
10. Phillips J, Blask A, DiPoto Brahmbhatt A, et al. Fetal lung interstitial tumor: Prenatal presentation of a rare fetal malignancy. J Neonatal Perinatal Med. 2019;12(4):473-477. doi: 10.3233/NPM-180059. PMID: 31256075.
11. Spahiu L, Baruti-Gafurri Z, Grajçevci-Uka V, et al. Type II Pleuropulmonary Blastoma in a 4 Month Old Infant with Negative Dicer1 Mutation on Next Generation Sequencing. Med Arch. 2021 Feb;75(1):61-65. doi: 10.5455/medarh.2021.75.61-65. PMID: 34012202; PMCID: PMC8116104.
12. Baez-Giangreco A, Afzal M, Hamdy MG, Antonious J. Pleuropulmonary blastoma of the lung presenting as posterior mediastinal mass: a case report. Pediatr Hematol Oncol. 1997 Sep-Oct;14(5):475-81. doi: 10.3109/08880019709028779. PMID: 9267881.
13. de Kock L, Bah I, Wu Y, et al. Germline and Somatic DICER1 Mutations in a Well-Differentiated Fetal Adenocarcinoma of the Lung. J Thorac Oncol. 2016 Mar;11(3):e31-3. doi: 10.1016/j.jtho.2015.09.012. PMID: 26886166.
14. Bonasoni MP, Comitini G, Barbieri V, et al. Fetal Presentation of Mediastinal Immature Teratoma: Ultrasound, Autopsy and Cytogenetic Findings. Diagnostics (Basel). 2021 Aug 25;11(9):1543. doi: 10.3390/diagnostics11091543. PMID: 34573885; PMCID: PMC8468681.
15. Nya D. N, Jennifer P. Congenital pulmonary airway malformation (CPAM). 2022. [https://www.pathologyoutlines.com/topic/lungnontumorcysticadenomatoid.html available at 6.06.2024].
16. Baranov E, McBride MJ, Bellizzi AM, et al. A Novel SS18-SSX Fusion-specific Antibody for the Diagnosis of Synovial Sarcoma. Am J Surg Pathol. 2020 Jul;44(7):922-933. doi: 10.1097/PAS.0000000000001447. PMID: 32141887; PMCID: PMC7289668.
17. Duband S, Morrison AL, Pasquier D, et al. First case report of a fetal synovial sarcoma confirmed by molecular detection of SYT-SSX fusion gene transcripts. Am J Perinatol. 2008 Sep;25(8):517-20. doi: 10.1055/s-0028-1085074. PMID: 18720326.
18. Zhou P, Li S, Wang W, Tang Y, Jiang L. Congenital peribronchial myofibroblastic tumor (CPMT): a case report with long term follow-up and next-generation sequencing (NGS). BMC Pediatr. 2023 Apr 20;23(1):184. doi: 10.1186/s12887-023-04001-5. PMID: 37081446; PMCID: PMC10116682.
19. Brock KE, Wall J, Esquivel M, et al. Congenital peribronchial myofibroblastic tumor: case report of an asymptomatic infant with a rapidly enlarging pulmonary mass and review of the literature. Ann Clin Lab Sci. 2015 Winter;45(1):83-9. PMID: 25696016.
20. Hill A, Dishop MK. Fetal lung interstitial tumour BlueBooksOnline. [https://tumourclassification.iarc.who.int/chaptercontent/44/432 available at 6.06.2024]
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