Extramedullary Myeloid Leukemia in the Setting of a Myeloproliferative Neoplasm

Overview

Journal J Med Cases

Specialty General Medicine

Date 2022 Dec 12

PMID 36506761

Authors

Jorgena Kosti

Timothy Mervak

Howard Terebelo

Affiliations

Soon will be listed here.

Abstract

Extramedullary acute myeloid leukemia (EML), also known as myeloid sarcoma (MS), is an extramedullary solid mass derived from the proliferation of myeloblasts outside of the bone marrow. EML can present independently or concurrently with intramedullary acute myeloid leukemia (iAML). It can happen or secondary to iAML, myeloproliferative neoplasm (MPN), chronic myelomonocytic leukemia (CMML), or myelodysplastic syndrome (MDS). We present a 57-year-old female with a history of Janus kinase 2 (JAK-2)-positive essential thrombocythemia (ET) evolving into EML in the setting of a persistent TP53 mutation. We discuss the essential diagnostic studies including tissue biopsy and fluorodeoxyglucose positron emission tomography/computed tomography (F-FDG PET/CT) imaging. We also investigate the significance of cytogenetics and next-generation sequencing (NGS) along with the unique pathogenesis, treatment and prognostic implications.

References

Welch J . Patterns of mutations in TP53 mutated AML. Best Pract Res Clin Haematol. 2018; 31(4):379-383. PMC: 6482955. DOI: 10.1016/j.beha.2018.09.010. View

Ngu I, Sinclair E, Greenaway S, Greenberg M . Unusual presentation of granulocytic sarcoma in the breast: a case report and review of the literature. Diagn Cytopathol. 2001; 24(1):53-7. DOI: 10.1002/1097-0339(200101)24:1<53::aid-dc1009>3.0.co;2-d. View

Vedy D, Muehlematter D, Rausch T, Stalder M, Jotterand M, Spertini O . Acute myeloid leukemia with myeloid sarcoma and eosinophilia: prolonged remission and molecular response to imatinib. J Clin Oncol. 2009; 28(3):e33-5. DOI: 10.1200/JCO.2009.23.6976. View

NEIMAN R, Barcos M, Berard C, Bonner H, Mann R, RYDELL R . Granulocytic sarcoma: a clinicopathologic study of 61 biopsied cases. Cancer. 1981; 48(6):1426-37. DOI: 10.1002/1097-0142(19810915)48:6<1426::aid-cncr2820480626>3.0.co;2-g. View

Akala O, Park I, Qian D, Pihalja M, Becker M, Clarke M . Long-term haematopoietic reconstitution by Trp53-/-p16Ink4a-/-p19Arf-/- multipotent progenitors. Nature. 2008; 453(7192):228-32. DOI: 10.1038/nature06869. View

Shimizu H, Saitoh T, Tanaka M, Mori T, Sakura T, Kawai N . Allogeneic hematopoietic stem cell transplantation for adult AML patients with granulocytic sarcoma. Leukemia. 2012; 26(12):2469-73. DOI: 10.1038/leu.2012.156. View

Seymour J, Pierce S, Kantarjian H, Keating M, Estey E . Investigation of karyotypic, morphologic and clinical features in patients with acute myeloid leukemia blast cells expressing the neural cell adhesion molecule (CD56). Leukemia. 1994; 8(5):823-6. View

Granowicz E, Jonas B . Targeting -Mutated Acute Myeloid Leukemia: Research and Clinical Developments. Onco Targets Ther. 2022; 15:423-436. PMC: 9037178. DOI: 10.2147/OTT.S265637. View

Shallis R, Gale R, Lazarus H, Roberts K, Xu M, Seropian S . Myeloid sarcoma, chloroma, or extramedullary acute myeloid leukemia tumor: A tale of misnomers, controversy and the unresolved. Blood Rev. 2020; 47:100773. DOI: 10.1016/j.blre.2020.100773. View

10.

Cerquozzi S, Tefferi A . Blast transformation and fibrotic progression in polycythemia vera and essential thrombocythemia: a literature review of incidence and risk factors. Blood Cancer J. 2015; 5:e366. PMC: 4670948. DOI: 10.1038/bcj.2015.95. View

11.

Naesens L, Devos H, Nollet F, Michaux L, Selleslag D . Mediastinal Myeloid Sarcoma with TP53 Mutation Preceding Acute Myeloid Leukemia with a PICALM-MLLT10 Fusion Gene. Acta Haematol. 2018; 140(2):97-104. DOI: 10.1159/000491596. View

12.

Li Y, Zhang R, Zhang X . [Granulocytic sarcoma of abdomen in an an acute myeloid leukemia patient with inv(16) and t(6;17) chromosome abnormalities: a case report and literature review]. Zhonghua Xue Ye Xue Za Zhi. 2011; 32(5):342-3. View

13.

Pui M, Fletcher B, Langston J . Granulocytic sarcoma in childhood leukemia: imaging features. Radiology. 1994; 190(3):698-702. DOI: 10.1148/radiology.190.3.8115614. View

14.

Tsimberidou A, Kantarjian H, Estey E, Cortes J, Verstovsek S, Faderl S . Outcome in patients with nonleukemic granulocytic sarcoma treated with chemotherapy with or without radiotherapy. Leukemia. 2003; 17(6):1100-3. DOI: 10.1038/sj.leu.2402958. View

15.

Mourad W, Kfoury H, Al Husseini H . The value of CD34, myeloperoxidase and chloroacetate esterase (Leder) stain in the diagnosis of granulocytic sarcoma. Ann Saudi Med. 2007; 21(5-6):287-91. DOI: 10.5144/0256-4947.2001.287. View

16.

Chevallier P, Mohty M, Lioure B, Michel G, Contentin N, Deconinck E . Allogeneic hematopoietic stem-cell transplantation for myeloid sarcoma: a retrospective study from the SFGM-TC. J Clin Oncol. 2008; 26(30):4940-3. DOI: 10.1200/JCO.2007.15.6315. View

17.

Struhal W, Oberndorfer S, Lahrmann H, Lindeck-Pozza E, Hess B, Nussgruber V . Myeloid sarcoma in the central nervous system: case report and review of the literature. Acta Clin Croat. 2008; 47(1):19-24. View

18.

Anderson M, Deng J, Seymour J, Tam C, Kim S, Fein J . The BCL2 selective inhibitor venetoclax induces rapid onset apoptosis of CLL cells in patients via a TP53-independent mechanism. Blood. 2016; 127(25):3215-24. PMC: 4920022. DOI: 10.1182/blood-2016-01-688796. View

19.

Stolzel F, Rollig C, Radke J, Mohr B, Platzbecker U, Bornhauser M . ¹⁸F-FDG-PET/CT for detection of extramedullary acute myeloid leukemia. Haematologica. 2011; 96(10):1552-6. PMC: 3186319. DOI: 10.3324/haematol.2011.045047. View

20.

Samborska M, Derwich K, Skalska-Sadowska J, Kurzawa P, Wachowiak J . Myeloid sarcoma in children - diagnostic and therapeutic difficulties. Contemp Oncol (Pozn). 2017; 20(6):444-448. PMC: 5320455. DOI: 10.5114/wo.2016.65602. View