Clinical and molecular characterization of myeloid sarcoma without medullary leukemia

Abbas, Hussein A.; Reville, Patrick K.; Geppner, Alexis; Rausch, Caitlin R.; Pemmaraju, Naveen; Ohanian, Maro; Sasaki, Koji; Borthakur, Gautam; Daver, Naval; DiNardo, Courtney D.; Bueso‐Ramos, Carlos E.; Pierce, Sherry; Konopleva, Marina; Ravandi, Farhad; Kantarjian, Hagop M.; Kadia, Tapan M.

doi:10.1080/10428194.2021.1961235

Cited by 17 publications

(17 citation statements)

References 41 publications

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“…According to NGS, the most prevalent genetic aberrations involved RTK-RAS pathway mutations (12/27; 44%), including KRAS (5/27; 19%), FLT3 (4/27; 15%), and NRAS (3/27; 11%). Although previous reports document RTK-RAS pathway mutations primarily during extramedullary relapse (9,15), our report of RTK-RAS mutations in the de novo setting at initial diagnosis runs contrary to the notion that RAS mutations likely represent later changes in the progression of AML (16). RAS mutations may play a critical role in the early development of extramedullary AML and provide a potential therapeutic opportunity using RAS inhibition in the future treatment of extramedullary AML (17).…”

Section: Discussioncontrasting

confidence: 99%

“…In correlation with previous reports (13,14), t(8;21) was also discovered in 3 sMS patients. Inv(16) was identi ed in 2 sMS patients, with 1 case having GI involvement (9). According to NGS, the most prevalent genetic aberrations involved RTK-RAS pathway mutations (12/27; 44%), including KRAS (5/27; 19%), FLT3 (4/27; 15%), and NRAS (3/27; 11%).…”

Section: Discussionmentioning

confidence: 99%

“…When comparing isolated MS (iMS) to synchronous MS (sMS), previous studies describe no signi cant differences in survival (4)(5)(6)(7)(8). Although the largest review to date reported a median overall survival (OS) of 12.8 months in iMS (2), other studies report a median OS ranging between 8 and 42 months (3,9). Nevertheless, MS at the time of initial diagnosis, whether isolated or concurrent with BM involvement, remains a poor prognostic factor with an increased risk of relapse (10,11).…”

Section: Introductionmentioning

confidence: 99%

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Extramedullary Acute Myeloid Leukemia in the De Novo Setting: Clinicopathologic Characteristics, Molecular Analysis, and Treatment Outcomes

Kuhlman

McCormick

Jiang

et al. 2022

Preprint

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Extramedullary disease in acute myeloid leukemia (AML), also known as myeloid sarcoma (MS), is an uncommon presentation of de novo AML. We analyzed medical records of patients in the Mayo Clinic database spanning between 1996 and 2021 who were diagnosed with de novo extramedullary AML. Survival outcomes were analyzed using Kaplan-Meier and Cox-proportional hazard models for univariate and multivariate analysis, respectively. With a median follow-up of 20.7 months, 83 patients with de novo MS were identified; 49 presented with synchronous MS and 34 with isolated MS. Next generation sequencing (NGS) revealed RTK-RAS pathway mutations in 44% of patients. Median overall survival (OS) was 25.3 months and 17.8 months in isolated and synchronous MS, respectively (p = 0.49). Variables associated with improved OS on univariate analysis included treatment with intensive chemotherapy (p < 0.001), normal or favorable risk karyotype (p = 0.001), age less than 60 years (p = 0.001), and a complete response to treatment at extramedullary sites (p < 0.0001). On multivariate analysis, normal or favorable risk karyotype (p = 0.001), age less than 60 (p = 0.01), and a complete extramedullary response (p = 0.001) were associated with improved OS. Localized therapy did not provide added survival benefit in isolated MS. Genomic stratification, age, and extramedullary site response are predictive of survival outcomes.

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Extramedullary Acute Myeloid Leukemia in the De Novo Setting: Clinicopathologic Characteristics, Molecular Analysis, and Treatment Outcomes

Kuhlman

McCormick

Jiang

et al. 2022

Preprint

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“…Concurrent extramedullary involvement of AML is common and can be found in approximately 19% of patients at the time of AML diagnosis [ 10 ]. However, isolated MS presenting as de novo disease is rare with a prevalence of approximately 1% of new AML cases [ 11 , 12 ]. Prognosis is variable and determined by individual clinical and genetic features [ 12 , 13 ].…”

Section: Discussionmentioning

confidence: 99%

“…Thus, it has been hypothesized that MS may have genetic alterations more consistent with solid rather than hematologic malignancies [ 17 ]. For example, patients with MS and concurrent AML exhibit an abundance of RAS pathway somatic mutations compared to patients with isolated AML [ 11 , 17 ]. Furthermore, MS has been reported in the setting of MSH6 , SMARCB1 , and PALB2 germline variants, which are more typically associated with non-hematologic malignancies [ 18 - 20 ].…”

Section: Discussionmentioning

confidence: 99%

A Case of Isolated Myeloid Sarcoma Associated With Germline EGFR T790M Variant: The Importance of Recognizing Potential Germline Variants on Somatic Tumor Sequencing Panels

Walker¹,

Folstad²,

Smith-Simmer³

et al. 2022

J Hematol

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Isolated myeloid sarcoma is an uncommon subtype of acute myeloid leukemia associated with variable prognosis. We present the case of a previously healthy 30-year-old man presenting with chest pain and weight loss who was found to have a large mediastinal mass. Biopsy of the mass was consistent with isolated myeloid sarcoma. A somatic tumor sequencing panel revealed an EGFR T790M variant, which was later confirmed to be of germline origin. Germline EGFR T790M variants are associated with a hereditary predisposition to lung cancer, though myeloid malignancies have not yet been described. To our knowledge, this is the first reported case of myeloid sarcoma in a patient with an underlying germline EGFR T790M mutation. As somatic tumor sequencing panels become more commonplace, it is important to recognize potential germline variants in order to facilitate appropriate referral for genetic counseling, perform confirmatory genetic testing, and to develop a personalized treatment and surveillance plan for patients and their families.

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An isolated sacral promyelocytic sarcoma in a child: A rare case report with emphasis on cytomorphology

Do,

Arshad,

Ferreira

et al. 2024

Diagnostic Cytopathology

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Myeloid sarcoma (MS) is an uncommon localized extramedullary tumor composed of immature myeloid precursor cells that can affect any organ. Promyelocytic sarcoma (PS), an extremely rare subtype of MS, is characterized by immature myeloid cells with features of acute promyelocytic leukemia (APL). We describe a case of pediatric PS that presented as a solitary sacral mass without any evidence of systemic or bone marrow involvement. The cytopathologic evaluation using touch imprint demonstrated numerous blasts with bilobed nuclei, cytoplasmic hyper‐granularity, and aggregates of Auer rods, which are typical cytomorphologic features of APL. Herein, we report an extremely rare case of isolated PS in a child, emphasizing the importance of cytomorphologic evaluation, which is complemented by the findings from a comprehensive work‐up.

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Clinical and molecular characterization of myeloid sarcoma without medullary leukemia

Cited by 17 publications

References 41 publications

Extramedullary Acute Myeloid Leukemia in the De Novo Setting: Clinicopathologic Characteristics, Molecular Analysis, and Treatment Outcomes

Extramedullary Acute Myeloid Leukemia in the De Novo Setting: Clinicopathologic Characteristics, Molecular Analysis, and Treatment Outcomes

A Case of Isolated Myeloid Sarcoma Associated With Germline EGFR T790M Variant: The Importance of Recognizing Potential Germline Variants on Somatic Tumor Sequencing Panels

An isolated sacral promyelocytic sarcoma in a child: A rare case report with emphasis on cytomorphology

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