School of Medicine and Health Sciences Poster Presentations

Title

Secondary Myelofibrosis with Pericardial Extramedullary Hematopoiesis: A Unique Case of Polycythemia Vera Progression

Document Type

Poster

Keywords

extramedullary hematopoiesis; polycythemia vera; myelofibrosis; cardiac tamponade; pericardial effusion

Publication Date

Spring 2017

Abstract

PURPOSE

The purpose of this case study is to illustrate the unique occurrence of progression of polycythemia vera into secondary myelofibrosis with resultant pericardial EMH, while making a theoretical connection to JAK 2 mutation.

CASE REPORT

A 71-year-old Ethiopian man with a history of polycythemia vera diagnosed 4 years previously, maintained on hydroxyurea, presented to the emergency room with worsening shortness of breath with associated dry cough, anorexia, and night sweats of 3 weeks duration. A complete blood count showed a modestly elevated leukocyte count of 15x109 cells/L, hemoglobin of 9 g/dl, and platelet count of 654,000/L. The peripheral blood smear showed marked neutrophilia with mild bandemia, the erythroid lineage was notable for rare nucleated red blood cells and occasional teardrop cells. A bedside echocardiogram in the emergency room revealed a large pericardial effusion with features concerning for pericardial tamponade. After a formal follow-up echocardiogram confirmed hyperdynamic systolic function with an ejection fraction of 70%, patient was emergently taken to the operating room for a left anterior thoracotomy and a pericardial window. He was found to have dense pleural adhesions, with 700ml of sanguinous fluid drained from the pericardial space. Evaluation of the pericardial fragments and pericardial fluid revealed presence of hematopoietic elements (both myeloid and erythroid precursors) suggestive of clonally proliferative hematopoietic cells. Extramedullary hematopoiesis (EMH) with concomitant anemia was suspicious for evolution of his polycythemia vera to myelofibrosis and possibly leukemic transformation. The patient subsequently underwent a bone marrow biopsy with pathology consistent with post polycythemia vera myelofibrosis. JAK2 V617F mutation was detected while BCR-ABL gene was negative on the peripheral blood.

CONCLUSION

This interesting case report illustrates an important, mysterious connection between post-polycythemic myelofibrosis, EMH involving the pericardium with resultant tamponade or pericardial effusion, and JAK2 mutations. As only 8 cases of pericardial EMH have been reported, with less than half of these evaluated for JAK2 mutations, it is still unknown whether this case could be generalized. This case highlights an unusual etiology for pericardial effusion and tamponade, and further research should be considered with regards to JAK2 mutations in cases of myelofibrosis.

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Open Access

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Comments

Poster to be presented at GW Annual Research Days 2017.

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Secondary Myelofibrosis with Pericardial Extramedullary Hematopoiesis: A Unique Case of Polycythemia Vera Progression

PURPOSE

The purpose of this case study is to illustrate the unique occurrence of progression of polycythemia vera into secondary myelofibrosis with resultant pericardial EMH, while making a theoretical connection to JAK 2 mutation.

CASE REPORT

A 71-year-old Ethiopian man with a history of polycythemia vera diagnosed 4 years previously, maintained on hydroxyurea, presented to the emergency room with worsening shortness of breath with associated dry cough, anorexia, and night sweats of 3 weeks duration. A complete blood count showed a modestly elevated leukocyte count of 15x109 cells/L, hemoglobin of 9 g/dl, and platelet count of 654,000/L. The peripheral blood smear showed marked neutrophilia with mild bandemia, the erythroid lineage was notable for rare nucleated red blood cells and occasional teardrop cells. A bedside echocardiogram in the emergency room revealed a large pericardial effusion with features concerning for pericardial tamponade. After a formal follow-up echocardiogram confirmed hyperdynamic systolic function with an ejection fraction of 70%, patient was emergently taken to the operating room for a left anterior thoracotomy and a pericardial window. He was found to have dense pleural adhesions, with 700ml of sanguinous fluid drained from the pericardial space. Evaluation of the pericardial fragments and pericardial fluid revealed presence of hematopoietic elements (both myeloid and erythroid precursors) suggestive of clonally proliferative hematopoietic cells. Extramedullary hematopoiesis (EMH) with concomitant anemia was suspicious for evolution of his polycythemia vera to myelofibrosis and possibly leukemic transformation. The patient subsequently underwent a bone marrow biopsy with pathology consistent with post polycythemia vera myelofibrosis. JAK2 V617F mutation was detected while BCR-ABL gene was negative on the peripheral blood.

CONCLUSION

This interesting case report illustrates an important, mysterious connection between post-polycythemic myelofibrosis, EMH involving the pericardium with resultant tamponade or pericardial effusion, and JAK2 mutations. As only 8 cases of pericardial EMH have been reported, with less than half of these evaluated for JAK2 mutations, it is still unknown whether this case could be generalized. This case highlights an unusual etiology for pericardial effusion and tamponade, and further research should be considered with regards to JAK2 mutations in cases of myelofibrosis.