bims-myxlip 2023-12-10 papers

Issue of 2023–12–10
two papers selected by
Laura Mannarino, Humanitas Research

Eur Heart J Case Rep. 2023 Dec;7(12): ytad546

Michael Killian, Timothy Barry, Carolyn Larsen, Said Alsidawi.

Background: Cardiac masses encompass a wide differential including primary and secondary malignancies and can present with a variety of symptoms, many of which are non-specific. Early identification and classification are important, particularly for cardiac malignancies such as sarcomas as these are aggressive tumours with exceptionally poor prognoses when metastases are present at diagnosis.
Case summary: We report two cases of patients who presented with dyspnoea and were diagnosed with cardiac sarcomas; the former a primary sarcoma (undifferentiated pleomorphic subtype) and the latter a secondary sarcoma (round cell myxoid liposarcoma) that serve as comparisons for presentation and management of different types of this disease. Computed Tomography (CT) and echocardiography imaging findings are demonstrated showing the typical location and morphology of each subtype.
Discussion: Cardiac sarcomas are the most common primary cardiac malignancy, of which undifferentiated pleomorphic sarcoma is a common subtype. Undifferentiated pleomorphic sarcomas are aggressive, have a tendency to arise in the left atrium, and can appear similar to benign cardiac masses. Round cell myxoid liposarcomas by contrast are rare causes of secondary cardiac malignancies, metastasizing to the heart from soft tissues. Both diagnoses carry poor prognoses and although rare, are important to recognize as timely intervention with surgery, radiotherapy, and consideration of chemotherapy is key to maximizing survival.

Keywords: Cardiac malignancy; Cardiac mass; Cardiac tumour; Case report; Case series; Liposarcoma; Round cell myxoid liposarcoma; Sarcoma; Undifferentiated pleomorphic sarcoma

DOI: https://doi.org/10.1093/ehjcr/ytad546

J Clin Pathol. 2023 Nov 22. pii: jcp-2023-208963. [Epub ahead of print]

Gene of the month: DDIT3.

Julio A Diaz-Perez, Darcy A Kerr.

DNA damage-inducible transcript 3 (DDIT3) gene, mapped to the human chromosome 12q13.3, encodes a protein that belongs to the CCAAT/enhancer-binding protein family of transcription factors. DDIT3 is involved in the proliferative control that responds to endoplasmic reticulum stress in normal conditions, dimerising other transcription factors with basic leucine zipper (bZIP) structural motifs. DDIT3 plays a significant role during cell differentiation, especially adipogenesis, arresting the maturation of adipoblasts. In disease, FUS/EWSR1::DDIT3 fusion is the pathogenic event that drives the development of myxoid liposarcoma. The amplification of DDIT3 in other adipocytic neoplasms mediates the presence of adipoblast-like elements. Another fusion, GLI1::DDIT3, has rarely been documented in other tumours. This paper reviews the structure and function of DDIT3, its role in disease-particularly cancer-and its use and pitfalls in diagnostic testing, including immunohistochemistry as a tissue-based marker.

Keywords: antibodies, monoclonal; immunohistochemistry; pathology, molecular; sarcoma; soft tissue neoplasms

DOI: https://doi.org/10.1136/jcp-2023-208963