Clinicopathological analysis of myeloid sarcoma with megakaryocytic differentiation

Nagamine, Michiko; Miyoshi, Hiroaki; Kawamoto, Keisuke; Takeuchi, Mai; Yamada, Kyohei; Yanagida, Eriko; Kohno, Kei; Ohshima, Koichi

doi:10.1016/j.pathol.2021.08.015

Cited by 5 publications

(4 citation statements)

References 31 publications

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“…eAML seems to be more frequent in children than in adults, and so pediatric oncologists need be aware of the clinical and biological hallmarks in order to diagnose and stratify this group of tumors. Megakaryoblastic differentiation of eAML, affects multiple locations, rarely presents de novo and might have a worse prognosis ( 4 ). In general, the most frequently affected locations are subcutaneous tissue and the orbit.…”

Section: Discussionmentioning

confidence: 99%

“…Immunohistochemical panels including CD43, MPO, CD117, CD68, CD3 and CD20 might successfully identify eAML in most cases, provided there is no difficulty in obtaining the sample. In cases with megakaryoblastic and/or erythroblastic differentiation, FVIII, CD41, CD61, glycophorin A and hemoglobin A should be included on the diagnostic panel ( 4 ). In our case, a bone marrow biopsy was performed and informed with an extensive interstitial infiltration (70%) of CD61-positive blasts, suggesting an acute myeloid leukemia (megakarioblastic).…”

Section: Discussionmentioning

confidence: 99%

“…The prognosis for patients with eAML is variable and depends on several factors, such as cytogenetic risk profile, whether involvement of bone marrow is isolated or concurrent ( de novo , with simultaneous AML, myelodysplastic syndromes, or myeloproliferative disorder) ( 4 ), response to induction therapy and the presence of any addressable mutations at the extramedullary site or in marrow samples. In acute megakaryoblastic leukemia, NUP98::KDM5A, CBFA2T3::GLIS2, KMT2A rearrangements and monosomy 7 have been shown to be associated with poor outcome while RBM15::MKL1 and other alterations seem to be associated with a better prognosis ( 11 , 12 ).…”

Section: Discussionmentioning

confidence: 99%

“…The incidence of eAML is higher in children than in adults ( 2 ) and is associated with age of <1 year, central nervous system (CNS) disease, AML type M5 according to FAB classification, abnormal cytogenetics and poor clinical outcome ( 3 ). Although eAML has been the subject of more than 2,000 case reports in the medical literature, there are <50 reported cases of eAML with megakaryoblastic differentiation, which reflects the rarity of the neoplasm and the difficulty of diagnosis ( 4 ). Many misdiagnoses have been documented ( 5 ).…”

Section: Introductionmentioning

confidence: 99%

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Case Report: The Value of Genomic Analysis in a Case of Megakaryoblastic Leukemia With Atypical Initial Manifestation

Gutiérrez-Jimeno

Panizo-Morgado²,

Calvo-Imirizaldu³

et al. 2022

Front. Pediatr.

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We report the case of a 7-month-old female patient who developed acute megakaryoblastic leukemia 6 months after the appearance of skull bone lesions. Initial evaluation and diagnosis of this patient were challenging and only achieved thanks to genomic analysis by NGS (next generation sequencing). It is unusual for the initial manifestation of acute megakaryoblastic leukemia to be a skull bone lesion. Extramedullary acute myeloid leukemia (eAML), also known as myeloid sarcoma (MS), often occurs simultaneously with acute myeloid leukemia (AML), although it may precede AML. Genomic analysis based on a NGS panel (Oncomine Childhood Cancer Research Assay) detected a RBM15::MKL1 fusion, a consequence of a t (1;22)(p13;q13) translocation, establishing the diagnosis of acute megakaryoblastic leukemia and enabling disease follow-up by qPCR. A diagnosis of eAML is built up from various findings in radiological, histological, immunophenotypic and genomic studies; when the tumor appears de novo, diagnosis is more complicated. We emphasize the importance of a multidisciplinary team in the initial approach to rare tumors and the use of genomic studies to contribute to the knowledge of these neoplasms, risk stratification and treatment planning.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Case Report: The Value of Genomic Analysis in a Case of Megakaryoblastic Leukemia With Atypical Initial Manifestation

Gutiérrez-Jimeno

Panizo-Morgado²,

Calvo-Imirizaldu³

et al. 2022

Front. Pediatr.

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Myeloid sarcoma with RBM15::MRTFA (MKL1) mimicking vascular neoplasm

Gündoğdu,

Agaimy,

Aytaç

et al. 2024

Virchows Arch

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Extramedullary involvement of acute myeloid leukemia (AML), aka myeloid sarcoma, is a rare phenomenon in acute megakaryoblastic leukemia with RBM15:: MRTFA(MKL1) fusion, which might mimic non-hematologic malignancies. A 7-month-old infant presented with leukocytosis, hepatosplenomegaly, multiple lymphadenopathies, and a solid mass in the right thigh. Initially, the patient was diagnosed with a malignant vascular tumor regarding the expression of vascular markers from the biopsy of the right thigh lesion that was performed after the inconclusive bone marrow biopsy. The second bone marrow biopsy, which was performed due to the partial response to sarcoma treatment, showed hypercellular bone marrow with CD34 and CD61-positive spindle cell infiltration and > 20% basophilic blasts with cytoplasmic blebs. RNA sequencing of soft tissue biopsy revealed the presence of RBM15::MRTFA(MKL1) fusion. Based on these findings, myeloid sarcoma/AML with RBM15::MRTFA(MKL1) fusion diagnosis was made. AML with RBM15::MRTFA(MKL1) fusion can initially present as extramedullary lesions and might cause misdiagnosis of non-hematologic malignancies.

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Myeloid sarcomas with CBFA2T3 : GLIS2 fusion: clinicopathologic characterization of 4 cases mimicking small round cell tumors

Malik,

Eldomery,

Wang

et al. 2024

American Journal of Clinical Pathology

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Objectives Acute myeloid leukemia with CBFA2T3::GLIS2 fusion can initially present as extramedullary lesions (myeloid sarcoma), leading to a misdiagnosis of nonhematologic pediatric solid tumors. Methods We characterized the clinicopathologic features of 4 cases of CBFA2T3::GLIS2 fusion-positive myeloid sarcoma in pediatric patients where the sarcoma presented either without leukemic involvement (isolated myeloid sarcoma; 3/4 [75%]) or had concurrent leukemic disease (1/4 [25%]). Results All cases mimicked nonhematopoietic tumors at morphologic and immunophenotypic levels, so the initial evaluation did not raise suspicion for acute myeloid leukemia/myeloid sarcoma. After extensive workup, however, including molecular studies, the diagnosis of myeloid sarcoma with CBFA2T3::GLIS2 fusion was rendered. Conclusions This study highlights the need for a high suspicion index of GLIS2-rearranged myeloid sarcoma in the differential diagnosis of pediatric small round cell tumors in tissue biopsies and the application of adequate workup to avoid misdiagnosing this entity.

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Clinicopathological analysis of myeloid sarcoma with megakaryocytic differentiation

Cited by 5 publications

References 31 publications

Case Report: The Value of Genomic Analysis in a Case of Megakaryoblastic Leukemia With Atypical Initial Manifestation

Case Report: The Value of Genomic Analysis in a Case of Megakaryoblastic Leukemia With Atypical Initial Manifestation

Myeloid sarcoma with RBM15::MRTFA (MKL1) mimicking vascular neoplasm

Myeloid sarcomas with CBFA2T3 : GLIS2 fusion: clinicopathologic characterization of 4 cases mimicking small round cell tumors

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