Thrombus or tumor? A case report of a rare sarcoma entity: intimal sarcoma of the pulmonary arteries.
DNA methylation
Intimal sarcoma
Pulmonary arteries
Rare entity
Journal
Molecular biology reports
ISSN: 1573-4978
Titre abrégé: Mol Biol Rep
Pays: Netherlands
ID NLM: 0403234
Informations de publication
Date de publication:
24 Apr 2024
24 Apr 2024
Historique:
received:
30
01
2024
accepted:
22
03
2024
medline:
24
4
2024
pubmed:
24
4
2024
entrez:
24
4
2024
Statut:
epublish
Résumé
Tumor embolism is a very rare primary manifestation of cancers and the diagnosis is challenging, especially if located in the pulmonary arteries, where it can mimic nonmalignant pulmonary embolism. Intimal sarcoma is one of the least commonly reported primary tumors of vessels with only a few cases reported worldwide. A typical location of this malignancy is the pulmonary artery. Herein, we present a case report of an intimal sarcoma with primary manifestation in the pulmonary arteries. A 53-year-old male initially presented with dyspnea. On imaging, a pulmonary artery embolism was detected and was followed by thrombectomy of the right ventricular outflow tract, main pulmonary artery trunk, and right pulmonary artery after ineffective lysis therapy. Complementary imaging of the chest and abdomen including a PET-CT scan demonstrated no evidence of a primary tumor. Subsequent pathology assessment suggested an intimal sarcoma further confirmed by DNA methylation based molecular analysis. We initiated adjuvant chemotherapy with doxorubicin. Four months after the completion of adjuvant therapy a follow-up scan revealed a local recurrence without distant metastases. Primary pulmonary artery intimal sarcoma (PAS) is an exceedingly rare entity and pathological diagnosis remains challenging. Therefore, the detection of entity-specific molecular alterations is a supporting argument in the diagnostic spectrum. Complete surgical resection is the prognostically most important treatment for intimal cardiac sarcomas. Despite adjuvant chemotherapy, the prognosis of cardiac sarcomas remains very poor. This case of a PAS highlights the difficulty in establishing a diagnosis and the aggressive natural course of the disease. In case of atypical presentation of a pulmonary embolism, a tumor originating from the great vessels should be considered. Molecular pathology techniques support in establishing a reliable diagnosis.
Sections du résumé
BACKGROUND
BACKGROUND
Tumor embolism is a very rare primary manifestation of cancers and the diagnosis is challenging, especially if located in the pulmonary arteries, where it can mimic nonmalignant pulmonary embolism. Intimal sarcoma is one of the least commonly reported primary tumors of vessels with only a few cases reported worldwide. A typical location of this malignancy is the pulmonary artery. Herein, we present a case report of an intimal sarcoma with primary manifestation in the pulmonary arteries. A 53-year-old male initially presented with dyspnea. On imaging, a pulmonary artery embolism was detected and was followed by thrombectomy of the right ventricular outflow tract, main pulmonary artery trunk, and right pulmonary artery after ineffective lysis therapy. Complementary imaging of the chest and abdomen including a PET-CT scan demonstrated no evidence of a primary tumor. Subsequent pathology assessment suggested an intimal sarcoma further confirmed by DNA methylation based molecular analysis. We initiated adjuvant chemotherapy with doxorubicin. Four months after the completion of adjuvant therapy a follow-up scan revealed a local recurrence without distant metastases.
DISCUSSION
CONCLUSIONS
Primary pulmonary artery intimal sarcoma (PAS) is an exceedingly rare entity and pathological diagnosis remains challenging. Therefore, the detection of entity-specific molecular alterations is a supporting argument in the diagnostic spectrum. Complete surgical resection is the prognostically most important treatment for intimal cardiac sarcomas. Despite adjuvant chemotherapy, the prognosis of cardiac sarcomas remains very poor. This case of a PAS highlights the difficulty in establishing a diagnosis and the aggressive natural course of the disease.
CONCLUSION
CONCLUSIONS
In case of atypical presentation of a pulmonary embolism, a tumor originating from the great vessels should be considered. Molecular pathology techniques support in establishing a reliable diagnosis.
Identifiants
pubmed: 38656400
doi: 10.1007/s11033-024-09467-9
pii: 10.1007/s11033-024-09467-9
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
568Informations de copyright
© 2024. The Author(s).
Références
D’Souza D Tumors of blood vessels | Radiology Reference Article | Radiopaedia.org. Radiopaedia. https://doi.org/10.53347/rID-2229
Mandelstamm M (1923) Über primäre Neubildungen Des Herzens. Virchows Arch path Anat 245:43–54
doi: 10.1007/BF01992097
Al-Mehisen R, Al-Halees Z, Alnemri K, Al-Hemayed W, Al-Mohaissen M (2019) Primary pulmonary artery sarcoma: a rare and overlooked differential diagnosis of pulmonary embolism. Clues to diagnosis. Int J Surg Case Rep 65:15–19
doi: 10.1016/j.ijscr.2019.10.014
pubmed: 31675686
pmcid: 6838465
Ito Y, Maeda D, Yoshida M et al (2017) Cardiac intimal sarcoma with PDGFRβ mutation and co-amplification of PDGFRα and MDM2: an autopsy case analyzed by whole-exome sequencing. Virchows Arch 471:423–428
doi: 10.1007/s00428-017-2135-x
pubmed: 28474091
Santos TV, Campos MAG, Feitoza L, de Silva M GEB (2023) Pulmonary artery Intimal Sarcoma treated as chronic pulmonary thromboembolism. Balkan Med J. https://doi.org/10.4274/balkanmedj.galenos.2023.2023-7-3
doi: 10.4274/balkanmedj.galenos.2023.2023-7-3
pubmed: 37735682
pmcid: 9874249
Ito S, Tahara N, Fukumoto Y (2023) Refractory pulmonary artery intimal sarcoma. Eur Heart J 44:3484
doi: 10.1093/eurheartj/ehad500
pubmed: 37554064
Giner F, Machado I, Rubio-Martínez LA, López-Guerrero JA, Claramunt-Alonso R, Navarro S, Ferrández A, Mayordomo-Aranda E, Llombart-Bosch A (2023) Intimal Sarcoma with MDM2/CDK4 amplification and p16 overexpression: a review of histological features in primary tumor and xenograft, with Immunophenotype and molecular profiling. Int J Mol Sci 24:7535
doi: 10.3390/ijms24087535
pubmed: 37108696
pmcid: 10141691
Koelsche C, Schrimpf D, Stichel D et al (2021) Sarcoma classification by DNA methylation profiling. Nat Commun 12:498
doi: 10.1038/s41467-020-20603-4
pubmed: 33479225
pmcid: 7819999
Koelsche C, Benhamida JK, Kommoss FKF et al (2021) Intimal sarcomas and undifferentiated cardiac sarcomas carry mutually exclusive MDM2, MDM4, and CDK6 amplifications and share a common DNA methylation signature. Mod Pathol 34:2122–2129
doi: 10.1038/s41379-021-00874-y
pubmed: 34312479
pmcid: 8592836
Wong HH, Gounaris I, McCormack A, Berman M, Davidson D, Horan G, Pepke-Zaba J, Jenkins D, Earl HM, Hatcher HM (2015) Presentation and management of pulmonary artery sarcoma. Clin Sarcoma Res 5:3
doi: 10.1186/s13569-014-0019-2
pubmed: 25628857
pmcid: 4307142
Wang H-Q, Sun A-Q, Liu P, Chen W, Cao C, Song X, Song Z-G (2021) Clinicopathological features of pulmonary artery and vein intimal sarcomas: case series of rare pulmonary vessel intimal sarcoma. Transl Cancer Res 10:3033–3043
doi: 10.21037/tcr-20-3468
pubmed: 35116611
pmcid: 8797285
Neuville A, Collin F, Bruneval P et al (2014) Intimal sarcoma is the most frequent primary cardiac sarcoma: clinicopathologic and molecular retrospective analysis of 100 primary cardiac sarcomas. Am J Surg Pathol 38:461–469
doi: 10.1097/PAS.0000000000000184
pubmed: 24625414
Roszik J, Khan A, Conley AP, Livingston JA, Groisberg R, Ravi V, Carmagnani Pestana R, Sen S, Subbiah V (2019) Unique aberrations in Intimal Sarcoma Identified by Next-Generation sequencing as potential therapy targets. Cancers 11:1283
doi: 10.3390/cancers11091283
pubmed: 31480474
pmcid: 6770224
Secondino S, Grazioli V, Valentino F et al (2017) Multimodal Approach of Pulmonary Artery Intimal Sarcoma: A Single-Institution Experience. Sarcoma 2017:7941432
Frezza AM, Assi T, Lo Vullo S et al (2020) Systemic treatments in MDM2 positive intimal sarcoma: a multicentre experience with anthracycline, gemcitabine, and pazopanib within the World Sarcoma Network. Cancer 126:98–104
doi: 10.1002/cncr.32508
pubmed: 31536651
Bode-Lesniewska B, Zhao J, Speel EJ, Biraima AM, Turina M, Komminoth P, Heitz PU (2001) Gains of 12q13-14 and overexpression of mdm2 are frequent findings in intimal sarcomas of the pulmonary artery. Virchows Arch 438:57–65
doi: 10.1007/s004280000313
pubmed: 11213836
Koyama T, Shimizu T, Kojima Y et al (2023) Clinical activity and exploratory resistance mechanism of Milademetan, an MDM2 inhibitor, in Intimal Sarcoma with MDM2 amplification: an open-label phase Ib/II study. Cancer Discov 13:1814–1825
doi: 10.1158/2159-8290.CD-23-0419
pubmed: 37369013