Vol. 1 No. 3 (2025), Case Report
Vol. 1 No. 3 (2025)

Acute Myeloid Leukemia Presenting as Bilateral Proptosis: A Case Report with Literature Review

Case Report
Published 2025-05-12
Ahmed Mostafa Youssef
Department of Education, Al Qassimi Hospital, Sharjah, UAE.
Mohamad Monif Assker
Department of Radiology, Sheikh Khalifa Medical City, Abu Dhabi, UAE. image/svg+xml
https://orcid.org/0009-0000-9929-7059
Farah Alkhaleefa
Department of Internal Medicine, Al Qassimi Hospital, Sharjah, UAE.
Mahasin Shaheen
Department of Internal Medicine, Al Qassimi Hospital, Sharjah, UAE.
ASIDE IM issue 3
PDF

Keywords

Acute Myeloid Leukemia
Myeloid Sarcoma
Bilateral proptosis
M6 subtype
RUNX1-RUNX1T1
Di Guglielmo syndrome

Categories

How to Cite

1.
Youssef A, Assker M, Alkhaleefa F, Shaheen M. Acute Myeloid Leukemia Presenting as Bilateral Proptosis: A Case Report with Literature Review. ASIDE Int Med. 2025;1(3):27-31. doi:10.71079/ASIDE.IM.05122559
ACM ACS APA ABNT Chicago Harvard IEEE MLA Turabian Vancouver AMA

Download Citation

Endnote/Zotero/Mendeley (RIS) BibTeX

Abstract

Introduction: Acute myeloid leukemia (AML), constituting 30% of pediatric malignancies, is the most common childhood cancer. This paper explores the rare presentation of AML with extramedullary involvement, specifically bilateral proptosis, in a 15-year-old boy.

Case report: The patient initially presented with worsening shortness of breath, palpitations, extreme fatigue, and bruising. Examination revealed bilateral proptosis, watery discharge from the right eye, and petechial rash. Blood investigations revealed low hemoglobin, severe thrombocytopenia, and high WBC count. Computed tomography (CT) revealed bilateral orbital infiltrative soft tissue lesions. Leukemia fusion gene screening identified RUNX1-RUNX1T1 later. The patient was admitted, received transfusions, and started on antibiotics. Despite initial improvement, he later developed sepsis, septic shock, and severe pancytopenia, necessitating intensive care and specific AML M2 targeting therapy.

Conclusion: Bilateral proptosis in AML, termed myeloid sarcoma (MS), is rare but responsive to chemotherapy. Orbital MS has higher responsiveness and survival rates in pediatric cases. The case highlights the importance of identifying AML subtypes, like RUNX1-RUNX1T1-positive AML, for tailored treatment strategies. This case underscores the challenges in diagnosing and treating pediatric AML with extramedullary involvement. Early recognition of AML subtypes is crucial for prognosis prediction and treatment tailoring.

PDF

References

1. Al-Mujaini A, Al-Shaaibi M, Al-Mughaizwi T, Wali Y, Ganesh A. Unilateral Proptosis: A Rare Presenting Sign of Acute Myeloid Leukemia. Oman Med J. 2022: e400 [PMID: 35915765, https://doi.org/10.5001/omj.2022.10]

2. Stein-Wexler R, Wootton-Gorges SL, West DC. Orbital granulocytic sarcoma: an unusual presentation of acute myelocytic leukemia. Pediatr Radiol. 2003: 136 [PMID: 12557072, https://doi.org/10.1007/s00247-002-0834-0]

3. Huang YC, Wang SC, Chen SN, Jou JR. Bilateral Acute Proptosis as Initial Manifestation of Acute Myeloid Leukemia. Orbit. 2015: 248 [PMID: 26186043, https://doi.org/10.3109/01676830.2015.1049371]

4. Geetha N, Sreelesh KP, Priya MJ, Lali VS, Rekha N. Osteolytic Bone Lesions - A Rare Presentation of AML M6. Mediterr J Hematol Infect Dis. 2015: e2015017 [PMID: 25745544, https://doi.org/10.4084/MJHID.2015.017]

5. Byrd JC, Edenfield WJ, Shields DJ, Dawson NA. Extramedullary myeloid cell tumors in acute nonlymphocytic leukemia: a clinical review. J Clin Oncol. 1995: 1800 [PMID: 7602369, https://doi.org/10.1200/JCO.1995.13.7.1800]

6. Athukuri P, Khan AB, Gadot R, Haque M, Lee S, Gallagher KK, Mims MP, Rivero GA, Barbieri A, Patel AJ, Jalali A. Myeloid sarcoma of the skull base: A case report and systematic literature review. Surg Neurol Int. 2022: 220 [PMID: 35673665, https://doi.org/10.25259/SNI_255_2022]

7. Jaiprakash MP, Antia PK, Shetty PA. Extramedullary deposits in acute myelogenous leukaemia. Indian J Cancer. 1981: 51 [PMID: 6943124,

8. Almalki AMJ, Alotaibi FA, Jabr HF, Mastan AR. Unilateral Proptosis As An Initial Sign Of Acute Myeloid Leukemia In A Child: A Case Report. Int Med Case Rep J. 2019: 319 [PMID: 31695517, https://doi.org/10.2147/IMCRJ.S206596]

9. Ansari S, Rauniyar RK, Dhungel K, Sah PL, Ahmad K, Gupta MK, Agrawal M. Acute myeloid leukemia presenting as bilateral proptosis and right temporal swelling. Oman J Ophthalmol. 2014: 35 [PMID: 24799802, https://doi.org/10.4103/0974-620X.127927]

10. Chaudhry IA, Alaraj AM, Alkatan HM. Unilateral eyelid swelling, proptosis and diplopia as initial manifestation of acute myeloid leukemia. Saudi J Ophthalmol. 2012: 241 [PMID: 23960999, https://doi.org/10.1016/j.sjopt.2012.03.004]

11. Chen E, Morrison DG, Donahue SP. Acute myeloid leukemia presenting as bilateral proptosis from diffuse extraocular muscle infiltration. Am J Ophthalmol. 2004: 948 [PMID: 15126169, https://doi.org/10.1016/j.ajo.2003.10.050]

12. Shahriari M, & Saleh, F. A case of unilateral proptosis: what is your diagnosis? Middle East Journal of Cancer. 2015:

13. Sune P, Sune M. Bilateral proptosis as initial sign of acute myeloid leukemia: case report and review of literature. International Journal of Contemporary Pediatrics. 2014: https://doi.org/10.5455/2349-3291.ijcp20140807]

14. Chandra T, Khan P, Khan L, Gupta A. Bilateral Proptosis - Initial and Rare Presentation: Aml. Indian Journal of Applied Research. 2021: 17 https://doi.org/10.36106/ijar/0610699]

15. Pecorella I, Manna N, Calbi V, Omona V, Okello TR. Bilateral proptosis as an early manifestation of juvenile myelomonocitic leukemia in an African child. Indian Journal of Pathology and Oncology. 2021: 152 https://doi.org/10.18231/j.ijpo.2021.028]

16. Bidar M, Wilson MW, Laquis SJ, Wilson TD, Fleming JC, Wesley RE, Ribeiro RC, Haik BG. Clinical and imaging characteristics of orbital leukemic tumors. Ophthalmic Plast Reconstr Surg. 2007: 87 [PMID: 17413619, https://doi.org/10.1097/IOP.0b013e3180333a85]

17. Bhat VK, Naseeruddin K, Narayanaswamy GN. Sino-orbital chloroma presenting as unilateral proptosis in a boy. Int J Pediatr Otorhinolaryngol. 2005: 1595 [PMID: 15939484, https://doi.org/10.1016/j.ijporl.2005.03.044]

18. Faderl S, Kantarjian HM. Clinical Manifestations and Treatment of Acute Myeloid Leukemia. Hematology2018. p. 924-943.

19. Tanveer S, Khilji M, Hassan R, Tanveer S, Khilji A. Approach to a Child with Bilateral Proptosis as a Rare Presentation of Acute Myeloid Leukemia. American Journal of Health, Medicine and Nursing Practice. 2023: 42 https://doi.org/10.47672/ajhmn.1600]

20. Johnston DL, Alonzo TA, Gerbing RB, Lange BJ, Woods WG. Superior outcome of pediatric acute myeloid leukemia patients with orbital and CNS myeloid sarcoma: a report from the Children's Oncology Group. Pediatr Blood Cancer. 2012: 519 [PMID: 21618422, https://doi.org/10.1002/pbc.23201]

21. Gozdasoglu S, Yavuz G, Unal E, Tacyldz N, Cavdar AO. Orbital granulocytic sarcoma and AML with poor prognosis in Turkish children. Leukemia. 2002: 962; author reply 963 [PMID: 11986967, https://doi.org/10.1038/sj.leu.2402449]

22. Schwyzer R, Sherman GG, Cohn RJ, Poole JE, Willem P. Granulocytic sarcoma in children with acute myeloblastic leukemia and t(8;21). Med Pediatr Oncol. 1998: 144 [PMID: 9722895, https://doi.org/10.1002/(sici)1096-911x(199809)31:3<144::aid-mpo3>3.0.co;2-b]

23. Basharat M, Khan SA, Din NU, Ahmed D. Immunophenotypic characterisation of morphologically diagnosed cases of Acute Myeloid Leukaemia (AML). Pak J Med Sci. 2019: 470 [PMID: 31086535, https://doi.org/10.12669/pjms.35.2.614]

24. Cao X, Dai H, Cui Q, Li Z, Shen W, Pan J, Shen H, Ma Q, Li M, Chen S, Chen J, Zhu X, Meng H, Yang L, Wu D, Tang X. CD7-directed CAR T-cell therapy: a potential immunotherapy strategy for relapsed/refractory acute myeloid leukemia. Exp Hematol Oncol. 2022: 67 [PMID: 36175988, https://doi.org/10.1186/s40164-022-00318-6]

25. Nagarajan S, Ramesh PV, Rangasami S, Azad A. Behind the bulging eyes: A rare case of acute myeloid leukemia M2 presenting as bilateral proptosis. Indian Journal of Ophthalmology - Case Reports. 2025: 131 https://doi.org/10.4103/ijo.Ijo_2143_24]

26. Dohner H, Weisdorf DJ, Bloomfield CD. Acute Myeloid Leukemia. N Engl J Med. 2015: 1136 [PMID: 26376137, https://doi.org/10.1056/NEJMra1406184]

27. Creutzig U, Kutny MA, Barr R, Schlenk RF, Ribeiro RC. Acute myelogenous leukemia in adolescents and young adults. Pediatr Blood Cancer. 2018: e27089 [PMID: 29667722, https://doi.org/10.1002/pbc.27089]

28. Allan JM. Genetic susceptibility to breast cancer in lymphoma survivors. Blood. 2019: 1004 [PMID: 30846507, https://doi.org/10.1182/blood-2019-01-894279]

29. Harrison CJ, Hills RK, Moorman AV, Grimwade DJ, Hann I, Webb DK, Wheatley K, de Graaf SS, van den Berg E, Burnett AK, Gibson BE. Cytogenetics of childhood acute myeloid leukemia: United Kingdom Medical Research Council Treatment trials AML 10 and 12. J Clin Oncol. 2010: 2674 [PMID: 20439644, https://doi.org/10.1200/JCO.2009.24.8997]

30. Al-Harbi S, Aljurf M, Mohty M, Almohareb F, Ahmed SOA. An update on the molecular pathogenesis and potential therapeutic targeting of AML with t(8;21)(q22;q22.1);RUNX1-RUNX1T1. Blood Adv. 2020: 229 [PMID: 31935293, https://doi.org/10.1182/bloodadvances.2019000168]

31. Mishra SR, Rawal L, Othman MAK, Thatai A, Sarkar A, Lal V, Bhattacharya SK. Complex rearrangement in acute myeloid leukemia M2 with RUNX1/RUNX1T1 fusion involving chromosomes 8, 17 and 21. Mol Cytogenet. 2021: 28 [PMID: 34020686, https://doi.org/10.1186/s13039-021-00541-6]

32. Talami A, Bettelli F, Pioli V, Giusti D, Gilioli A, Colasante C, Galassi L, Giubbolini R, Catellani H, Donatelli F, Maffei R, Martinelli S, Barozzi P, Potenza L, Marasca R, Trenti T, Tagliafico E, Comoli P, Luppi M, Forghieri F. How to Improve Prognostication in Acute Myeloid Leukemia with CBFB-MYH11 Fusion Transcript: Focus on the Role of Molecular Measurable Residual Disease (MRD) Monitoring. Biomedicines. 2021: [PMID: 34440157, https://doi.org/10.3390/biomedicines9080953]

33. Sethapati VR, Jabr R, Shune L, El Atrouni W, Gonzales PR, Cui W, Golem S. De Novo Acute Myeloid Leukemia with Combined CBFB-MYH11 and BCR-ABL1 Gene Rearrangements: A Case Report and Review of Literature. Case Rep Hematol. 2020: 8822670 [PMID: 33489389, https://doi.org/10.1155/2020/8822670]

34. Bloomfield CD, Lawrence D, Byrd JC, Carroll A, Pettenati MJ, Tantravahi R, Patil SR, Davey FR, Berg DT, Schiffer CA, Arthur DC, Mayer RJ. Frequency of prolonged remission duration after high-dose cytarabine intensification in acute myeloid leukemia varies by cytogenetic subtype. Cancer Res. 1998: 4173 [PMID: 9751631]

35. Dohner H, Estey EH, Amadori S, Appelbaum FR, Buchner T, Burnett AK, Dombret H, Fenaux P, Grimwade D, Larson RA, Lo-Coco F, Naoe T, Niederwieser D, Ossenkoppele GJ, Sanz MA, Sierra J, Tallman MS, Lowenberg B, Bloomfield CD, European L. Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet. Blood. 2010: 453 [PMID: 19880497, https://doi.org/10.1182/blood-2009-07-235358]

36. Marcucci G, Mrozek K, Ruppert AS, Maharry K, Kolitz JE, Moore JO, Mayer RJ, Pettenati MJ, Powell BL, Edwards CG, Sterling LJ, Vardiman JW, Schiffer CA, Carroll AJ, Larson RA, Bloomfield CD. Prognostic factors and outcome of core binding factor acute myeloid leukemia patients with t(8;21) differ from those of patients with inv(16): a Cancer and Leukemia Group B study. J Clin Oncol. 2005: 5705 [PMID: 16110030, https://doi.org/10.1200/JCO.2005.15.610]

37. Prebet T, Boissel N, Reutenauer S, Thomas X, Delaunay J, Cahn JY, Pigneux A, Quesnel B, Witz F, Thepot S, Ugo V, Terre C, Recher C, Tavernier E, Hunault M, Esterni B, Castaigne S, Guilhot F, Dombret H, Vey N, Acute Leukemia French A, Groupe Ouest-Est des leucemies et autres maladies du s, Core Binding Factor Acute Myeloid Leukemia i. Acute myeloid leukemia with translocation (8;21) or inversion (16) in elderly patients treated with conventional chemotherapy: a collaborative study of the French CBF-AML intergroup. J Clin Oncol. 2009: 4747 [PMID: 19720919, https://doi.org/10.1200/JCO.2008.21.0674]

38. Schlenk RF, Benner A, Krauter J, Buchner T, Sauerland C, Ehninger G, Schaich M, Mohr B, Niederwieser D, Krahl R, Pasold R, Dohner K, Ganser A, Dohner H, Heil G. Individual patient data-based meta-analysis of patients aged 16 to 60 years with core binding factor acute myeloid leukemia: a survey of the German Acute Myeloid Leukemia Intergroup. J Clin Oncol. 2004: 3741 [PMID: 15289486, https://doi.org/10.1200/JCO.2004.03.012]

39. Duployez N, Marceau-Renaut A, Boissel N, Petit A, Bucci M, Geffroy S, Lapillonne H, Renneville A, Ragu C, Figeac M, Celli-Lebras K, Lacombe C, Micol JB, Abdel-Wahab O, Cornillet P, Ifrah N, Dombret H, Leverger G, Jourdan E, Preudhomme C. Comprehensive mutational profiling of core binding factor acute myeloid leukemia. Blood. 2016: 2451 [PMID: 26980726, https://doi.org/10.1182/blood-2015-12-688705]

40. Schoch C, Kern W, Schnittger S, Buchner T, Hiddemann W, Haferlach T. The influence of age on prognosis of de novo acute myeloid leukemia differs according to cytogenetic subgroups. Haematologica. 2004: 1082 [PMID: 15377469,

41. Satelite Symposium V, Meet-the-Professor Sessions I and II, Main Sessions I-IX. Annals of Hematology. 2004: S59 https://doi.org/10.1007/s00277-004-0850-2]

42. Di Lauro S, Kadhim MR, Charteris DG, Pastor JC. Classifications for Proliferative Vitreoretinopathy (PVR): An Analysis of Their Use in Publications over the Last 15 Years. J Ophthalmol. 2016: 7807596 [PMID: 27429798, https://doi.org/10.1155/2016/7807596]

43. Nasir SS, Giri S, Nunnery S, Martin MG. Outcome of Adolescents and Young Adults Compared With Pediatric Patients With Acute Myeloid and Promyelocytic Leukemia. Clin Lymphoma Myeloma Leuk. 2017: 126 [PMID: 27836483, https://doi.org/10.1016/j.clml.2016.09.011]

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Copyright (c) 2025 ASIDE Internal Medicine

Similar Articles

You may also start an advanced similarity search for this article.