Thrombus or tumor? A case report of a rare sarcoma entity: intimal sarcoma of the pulmonary arteries

A Dörr; A Flörcken; L Bullinger; D Capper; A Von Deimling; D Kaul; S Märdian; C Starck; D Horst; M P Dragomir; F M Schäfer; A Jarosch

doi:10.1007/s11033-024-09467-9

Thrombus or tumor? A case report of a rare sarcoma entity: intimal sarcoma of the pulmonary arteries

Mol Biol Rep. 2024 Apr 24;51(1):568. doi: 10.1007/s11033-024-09467-9.

Authors

A Dörr¹, A Flörcken^{2

3}, L Bullinger^{2

3}, D Capper^{3

4}, A Von Deimling⁵, D Kaul^{3

6}, S Märdian⁷, C Starck⁸, D Horst^{3

9}, M P Dragomir^{3

9

10}, F M Schäfer¹¹, A Jarosch⁹

Affiliations

¹ Department of Hematology, Oncology, and Tumor Immunology, Charité - Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany. anne.doerr@charite.de.
² Department of Hematology, Oncology, and Tumor Immunology, Charité - Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.
³ German Cancer Consortium (DKTK), Partner site Berlin, German Cancer Research Center (DKFZ), Heidelberg, Germany.
⁴ Department of Neuropathology, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.
⁵ Department of Neuropathology, and CCU Neuropathology, University Hospital Heidelberg, DKFZ, Heidelberg, Germany.
⁶ Department of Radiation Oncology, Charité - Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt and Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.
⁷ Center for Musculoskeletal Surgery, Charité - Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.
⁸ Department of Cardiothoracic and Vascular Surgery, Deutsches Herzzentrum der Charité (DHZC), Berlin, Germany.
⁹ Department of Pathology, Charité - Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.
¹⁰ Berlin Institute of Health (BIH), Berlin, Germany.
¹¹ Institute for Radiology, Charité - Universitätsmedizin Berlin, Universität zu Berlin, Corporate member of Freie Universität Berlin and Humboldt, Berlin, Germany.

Abstract

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: 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: 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.

Keywords: DNA methylation; Intimal sarcoma; Pulmonary arteries; Rare entity.

Publication types

Case Reports

MeSH terms

Diagnosis, Differential
Humans
Male
Middle Aged
Pulmonary Artery* / pathology
Pulmonary Embolism / diagnosis
Sarcoma* / diagnosis
Sarcoma* / pathology
Thrombosis*
Tunica Intima / pathology
Vascular Neoplasms / diagnosis
Vascular Neoplasms / pathology