FLT3-ITD and NPM1 Double Mutation Acute Myeloid Leukemia Case Presenting with Diffuse Skin Granulocytic Sarcoma Diffuse Skin Granulocytic Sarcoma

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Rafiye Ciftciler
Ali Erdinc Ciftciler
Sumeyye Kozacıoglu


Objective: Acute myeloid leukemia (AML) is characterized by leukemic blasts that are not limited to the bone marrow or peripheral blood, may be presented with granulocytic sarcoma, and leukemic cells outside of the blood or bone marrow are called extramedullary involvement (EMI). Skin, bone, and lymph nodes are the most prevalent locations of extramedullary illness. Granulocytic sarcoma (GS) should be considered in the differential diagnosis of nodules, pustules, or plaque-like lesions, especially in patients with suspected hematological disease. No EMI-specific treatment regimens have been established; patients who are suitable for intensive therapy are typically treated with anthracycline and cytarabine-containing regimens. The most common genetic aberration in adult AML is somatic mutations in exon 12 of the NPM gene (NPM1), which affect up to 60% of individuals with normal karyotype AML and around 35% of all cases. Patients with NPM1 mutations are twice as likely to also have a FMS-like tyrosine kinase internal transmembrane duplications (FLT3-ITD) mutation as patients without NPM1 mutations. AML frequently harbors FLT3 mutations that result in (FLT3-ITD) or alterations to the kinase domain's activating loop (FLT3-TKD). Short remissions and unfavorable outcomes are linked to leukemia cells that have a high mutation proportion of FLT3-ITD molecules on their surface. 

Case: Here in this study, we report a patient diagnosed with FLT3-ITD and NPM1 double mutation AML (FAB classification M0, M1), admitted with diffuse granulocytic sarcoma.


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Ciftciler, R., Ciftciler, A. E., & Kozacıoglu, S. (2023). FLT3-ITD and NPM1 Double Mutation Acute Myeloid Leukemia Case Presenting with Diffuse Skin Granulocytic Sarcoma: Diffuse Skin Granulocytic Sarcoma. Medical Science and Discovery, 10(7), 509–512. https://doi.org/10.36472/msd.v10i7.982
Case Reports
Received 2023-06-23
Accepted 2023-07-14
Published 2023-07-29


Shallis RM, Wang R, Davidoff A, Ma X, Zeidan AM. Epidemiology of acute myeloid leukemia: recent progress and enduring challenges. Blood reviews. 2019;36:70-87.

Bourlon C, Lipton JH, Deotare U, Gupta V, Kim DD, Kuruvilla J, et al. Extramedullary disease at diagnosis of AML does not influence the outcome of patients undergoing allogeneic hematopoietic cell transplant in CR 1. European Journal of Haematology. 2017;99(3):234-9.

Zhang X-H, Zhang R, Li Y. Granulocytic sarcoma of the abdomen in acute myeloid leukemia patient with inv (16) and t (6; 17) abnormal chromosome: case report and review of literature. Leukemia Research. 2010;34(7):958-61.

Bakst RL, Tallman MS, Douer D, Yahalom J. How I treat extramedullary acute myeloid leukemia. Blood. 2011;118(14):3785-93.

Dores GM, Devesa SS, Curtis RE, Linet MS, Morton LM. Acute leukemia incidence and patient survival among children and adults in the United States, 2001-2007. Blood. 2012;119(1):34-43.

Döhner H, Estey E, Grimwade D, Amadori S, Appelbaum FR, Büchner T, et al. Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. Blood. 2017;129(4):424-47.

Shallis RM, Gale RP, Lazarus HM, Roberts KB, Xu ML, Seropian SE, et al. Myeloid sarcoma, chloroma, or extramedullary acute myeloid leukemia tumor: a tale of misnomers, controversy and the unresolved. Blood Reviews. 2021;47:100773.

Baer MR, Stewart CC, Lawrence D, Arthur DC, Byrd JC, Davey FR, et al. Expression of the neural cell adhesion molecule CD56 is associated with short remission duration and survival in acute myeloid leukemia with t (8; 21)(q22; q22). Blood. 1997;90(4):1643-8.

Ganzel C, Manola J, Douer D, Rowe JM, Fernandez HF, Paietta EM, et al. Extramedullary disease in adult acute myeloid leukemia is common but lacks independent significance: analysis of patients in ECOG-ACRIN cancer research group trials, 1980-2008. Journal of Clinical Oncology. 2016;34(29):3544.

Juncà J, Garcia-Caro M, Granada I, Rodríguez-Hernández I, Torrent A, Morgades M, et al. Correlation of CD11b and CD56 expression in adult acute myeloid leukemia with cytogenetic risk groups and prognosis. Annals of hematology. 2014;93(9):1483-9.

Bönig H, Göbel U, Nürnberger W. Bilateral exophthalmus due to retro-orbital chloromas in a boy with t (8; 21)-positive acute myeloblastic leukemia. Pediatric hematology and oncology. 2002;19(8):597-600.

Pileri S, Ascani S, Cox M, Campidelli C, Bacci F, Piccioli M, et al. Myeloid sarcoma: clinico-pathologic, phenotypic and cytogenetic analysis of 92 adult patients. Leukemia. 2007;21(2):340-50.

Hurley MY, Ghahramani GK, Frisch S, Armbrecht ES, Lind AC, Nguyen TT, et al. Cutaneous myeloid sarcoma: natural history and biology of an uncommon manifestation of acute myeloid leukemia. Acta Derm Venereol. 2013;93(3):319-24.

Kiyoi H, Naoe T, Nakano Y, Yokota S, Minami S, Miyawaki S, et al. Prognostic implication of FLT3 and N-RAS gene mutations in acute myeloid leukemia. Blood. 1999;93(9):3074-80.

Huang Y, Hu J, Lu T, Luo Y, Shi J, Wu W, et al. Acute myeloid leukemia patient with FLT3-ITD and NPM1 double mutation should undergo allogeneic hematopoietic stem cell transplantation in CR1 for better prognosis. Cancer Manag Res. 2019;11:4129-42.

Paydas S, Zorludemir S, Ergin M. Granulocytic sarcoma: 32 cases and review of the literature. Leukemia & lymphoma. 2006;47(12):2527-41.

Movassaghian M, Brunner AM, Blonquist TM, Sadrzadeh H, Bhatia A, Perry AM, et al. Presentation and outcomes among patients with isolated myeloid sarcoma: a Surveillance, Epidemiology, and End Results database analysis. Leukemia & Lymphoma. 2015;56(6):1698-703.

Kaur V, Swami A, Alapat D, Abdallah AO, Motwani P, Hutchins LF, et al. Clinical characteristics, molecular profile and outcomes of myeloid sarcoma: a single institution experience over 13 years. Hematology. 2018;23(1):17-24.