JAZF1 rearrangement in a mesenchymal tumor of nonendometrial stromal origin

Report of an unusual ossifying sarcoma of the heart demonstrating JAZF1/PHF1 fusion

J. Kenneth Schoolmeester, William R. Sukov, Joseph Maleszewski, Patrick P. Bedroske, Andrew L. Folpe, Jennelle C. Hodge

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Rearrangements of JAZF1 are a frequent genetic aberration in endometrial stromal tumors. We report a distinct primary cardiac ossifying sarcoma that harbored a JAZF1/PHF1 fusion. The patient was a 70-year-old man with a history of a 6.8 cm calcific intramural left ventricular mass. Six years after his initial evaluation, the patient developed multiple lung metastases and ultimately died of disease-related complications. Histologically, the cardiac tumor and lung metastases demonstrated an infiltrative, malignant spindle cell neoplasm that grew in short fascicles with areas of bone formation, nuclear palisading, and necrosis. The neoplastic cells were relatively monomorphic in a background of an amorphous collagenous matrix. Immunohistochemical analysis was positive for vimentin and negative for wide-spectrum cytokeratins, S100 protein, desmin, smooth muscle actin, and CD34. Fluorescence in situ hybridization using a dual-color, single-fusion probe set identified the JAZF1/PHF1 fusion. The unique morphology and the presence of a JAZF1/PHF1 rearrangement suggest that this distinctive ossifying sarcoma is not part of a currently established diagnostic entity, representing instead a novel primary cardiac sarcoma. This case also represents the first description of a JAZF1 fusion in a tumor outside the spectrum of endometrial stromal neoplasms.

Original languageEnglish (US)
Pages (from-to)938-942
Number of pages5
JournalAmerican Journal of Surgical Pathology
Volume37
Issue number6
DOIs
StatePublished - Jun 2013

Fingerprint

Sarcoma
Endometrial Stromal Tumors
Neoplasm Metastasis
Neoplasms
Lung
Heart Neoplasms
Desmin
S100 Proteins
Vimentin
Endometrial Neoplasms
Keratins
Fluorescence In Situ Hybridization
Osteogenesis
Smooth Muscle
Actins
Necrosis
Color

Keywords

  • Cardiac
  • Heart
  • JAZF1
  • JAZF1/PHF1
  • PHF1
  • Sarcoma

ASJC Scopus subject areas

  • Anatomy
  • Pathology and Forensic Medicine
  • Surgery

Cite this

JAZF1 rearrangement in a mesenchymal tumor of nonendometrial stromal origin : Report of an unusual ossifying sarcoma of the heart demonstrating JAZF1/PHF1 fusion. / Schoolmeester, J. Kenneth; Sukov, William R.; Maleszewski, Joseph; Bedroske, Patrick P.; Folpe, Andrew L.; Hodge, Jennelle C.

In: American Journal of Surgical Pathology, Vol. 37, No. 6, 06.2013, p. 938-942.

Research output: Contribution to journalArticle

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abstract = "Rearrangements of JAZF1 are a frequent genetic aberration in endometrial stromal tumors. We report a distinct primary cardiac ossifying sarcoma that harbored a JAZF1/PHF1 fusion. The patient was a 70-year-old man with a history of a 6.8 cm calcific intramural left ventricular mass. Six years after his initial evaluation, the patient developed multiple lung metastases and ultimately died of disease-related complications. Histologically, the cardiac tumor and lung metastases demonstrated an infiltrative, malignant spindle cell neoplasm that grew in short fascicles with areas of bone formation, nuclear palisading, and necrosis. The neoplastic cells were relatively monomorphic in a background of an amorphous collagenous matrix. Immunohistochemical analysis was positive for vimentin and negative for wide-spectrum cytokeratins, S100 protein, desmin, smooth muscle actin, and CD34. Fluorescence in situ hybridization using a dual-color, single-fusion probe set identified the JAZF1/PHF1 fusion. The unique morphology and the presence of a JAZF1/PHF1 rearrangement suggest that this distinctive ossifying sarcoma is not part of a currently established diagnostic entity, representing instead a novel primary cardiac sarcoma. This case also represents the first description of a JAZF1 fusion in a tumor outside the spectrum of endometrial stromal neoplasms.",
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