Acute Megakaryoblastic Leukemia with t(1;22) Mimicking Neuroblastoma in an Infant

Gökçe, Müge; Aytaç, Selin; Ünal, Şule; Altan, İlhan; Gümrük, Fatma; Çetin, Mualla

doi:10.4274/tjh.2013.0189

Cited by 6 publications

(4 citation statements)

References 17 publications

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“…Blood analysis revealed the diagnosis of AMKL, with the typical findings of megakaryocytes from a peripheral blood smear and was positive for CD42b and CD61 from immunophenotyping. However, several cases have been described where the diagnosis of AMKL was complicated due to bone marrow fibrosis or extramedullary disease (14)(15)(16)(17).…”

Section: Discussionmentioning

confidence: 99%

t(1;7;22)(p13;q21;q13) is a novel 3‑way variant of t(1;22)(p13;q13) neonatal acute megakaryoblastic leukemia: A case report

et al. 2023

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Acute megakaryoblastic leukemia (AMKL) is a rare disease, occurring mostly in infants and young children. The chromosomal translocation t(1;22)(p13;q13), resulting in the RBM15-MKL1 fusion gene, is a recurrent and diagnostic translocation in infants with AMKL. The present case report describes a case of a newborn girl, without Down's syndrome, with congenital AMKL. At birth, the infant had hepatosplenomegaly and the peripheral blood count revealed anemia, thrombopenia and leukocytosis, with 28% blasts. Immunophenotyping demonstrated blasts positive for CD34, CD61 and CD42b. Karyotyping of these blasts (R-banding) showed a hitherto unreported chromosomal translocation, t(1;7;22)(p13;q21;q13), a 3-way variant of the t(1;22)(p13;q13) variant. Fluorescent in situ hybridization analysis confirmed the presence of the RBM15-MKL1 fusion gene.

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Section: Discussionmentioning

confidence: 99%

t(1;7;22)(p13;q21;q13) is a novel 3‑way variant of t(1;22)(p13;q13) neonatal acute megakaryoblastic leukemia: A case report

et al. 2023

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“…The diagnosis of MS with conventional myeloblasts is less complex in comparison to monocytic cases due to the classic morphology and frequent positivity for CD34, CD117, and MPO. Cases with megakaryoblastic differentiation often mimic small round blue cell tumors, especially in pediatric patients with t(1; 22) (p13.3; q13.1); however, they are positive for CD41, CD42, and CD61 [36,37]. The rare erythroid cases are positive for glycophorin A and C, as well as hemoglobin A and CD71 [10].…”

Section: Discussionmentioning

confidence: 99%

Myeloid Sarcoma: Features in Cytological Preparations and the Utility of Rapid On-Site Evaluation (ROSE) in Triage

2022

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Introduction: Myeloid sarcoma (MS) is a rare extramedullary tumor consisting of blasts of granulocytic, monocytic, erythroid, or megakaryocytic lineage that disrupts the architecture of the involved tissue. MS shows vast clinical, morphologic, immunophenotypic, and genetic heterogeneity posing a diagnostic dilemma, especially in small biopsy specimens such as fine-needle aspiration (FNA) and core biopsy. The objective of this study is to highlight the morphologic features of MS in cytological preparations and investigate the efficacy of pathologist-performed rapid on-site evaluation (ROSE) in assuring accurate triage. Methods: A retrospective review was performed for cases of MS with concurrent cytology and ROSE results from 2006 to 2017. FNA smears and touch preparations were reviewed, and the results of ROSE, immunohistochemistry (IHC), flow cytometric immunophenotyping (FCI), cytogenetics/FISH, and histology were analyzed. Results: A total of 15 cases were found including 6 (40%) with monocytic morphology comprising promonocytes and monoblasts and 9 (60%) with conventional myeloblastic morphology. The most common genetic subgroup was KMT2A-rearranged MS (33.3%) followed by extramedullary blast crisis of chronic myeloid leukemia (26.6%). ROSE provided sufficient preliminary information and ensured the procurement of adequate tissue for histology, IHCs, FCI, and cytogenetics/FISH, leading to an accurate and complete diagnosis of MS in all cases. Discussion/Conclusion: MS is a rare malignancy that shows pronounced clinical, morphologic, immunophenotypic, and genetic heterogeneity that often overlaps with other neoplastic and non-neoplastic entities. Features including the presence of classic myeloblasts, promonocytes, monoblasts, nucleated red blood cells, left-shifted granulocytes, cytoplasmic granules, and pseudopods are helpful hints in cytological preparations. In the modern era where pathologists are increasingly expected to do extensive diagnostic, molecular, and therapeutic biomarker testing on tissue that is historically diminishing in size, ROSE is a highly effective tool to ensure effective triage of MS aiding in an accurate, timely, and complete diagnosis.

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“…Ewing’s sarcoma/PNET patients are usually older; cells show finely stippled chromatin- and glycogen-filled cytoplasm, with expression of CD99. Neuroblastoma may clinically mimic acute leukemia [ 2 ]. These cells can be differentiated from blasts by expression of synaptophysin or neuron-specific enolase.…”

Section: To the Editormentioning

confidence: 99%

Circulating Tumor Cells In Neuroblastoma

Jain

Kumar

Mishra

et al. 2017

Tjh

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Acute Megakaryoblastic Leukemia with t(1;22) Mimicking Neuroblastoma in an Infant

Cited by 6 publications

References 17 publications

t(1;7;22)(p13;q21;q13) is a novel 3‑way variant of t(1;22)(p13;q13) neonatal acute megakaryoblastic leukemia: A case report

t(1;7;22)(p13;q21;q13) is a novel 3‑way variant of t(1;22)(p13;q13) neonatal acute megakaryoblastic leukemia: A case report

Myeloid Sarcoma: Features in Cytological Preparations and the Utility of Rapid On-Site Evaluation (ROSE) in Triage

Circulating Tumor Cells In Neuroblastoma

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