{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:39:38Z","timestamp":1760060378772,"version":"build-2065373602"},"reference-count":19,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2025,8,21]],"date-time":"2025-08-21T00:00:00Z","timestamp":1755734400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Reports"],"abstract":"<jats:p>Background and Clinical Significance: Acute megakaryoblastic leukemia (AMKL) is a rare and aggressive hematologic malignancy. The presence of genetic abnormalities often increases the complexity of AMKL. Among these, patients with monosomy 7 constitute a high-risk group associated with a poorer prognosis and greater chemoresistance. We report the case of a 10-year-old boy who had AMKL along with monosomy 7 and familial GATA2 deficiency. The case highlights the diagnostic and therapeutic challenges faced, as well as the critical importance of early genetic screening and timely hematopoietic stem cell transplantation (HSCT). Case Presentation: A 10-year-old boy presented with easy bruising and pancytopenia. AMKL was diagnosed with the help of a bone marrow biopsy and immunophenotyping. Genetic testing showed a GATA2 mutation and monosomy 7. Two induction cycles with daunorubicin and cytarabine were administered but failed to eliminate residual disease. The patient also developed pneumonia of a fungal origin. HSCT was delayed due to liver toxicity and elevated minimal residual disease (MRD). Azacitidine and venetoclax stabilized the disease, thereby allowing for successful haploidentical HSCT. The patient achieved complete remission with full donor chimerism. Conclusions: This case emphasizes the importance of early molecular diagnostics in pediatric AMKL. Identifying GATA2 mutations and monosomy 7 early can help guide risk stratification and the timing of HSCT. Multimodal therapy, which includes the use of infection control and targeted agents, is important for improving the outcomes in high-risk patients.<\/jats:p>","DOI":"10.3390\/reports8030153","type":"journal-article","created":{"date-parts":[[2025,8,21]],"date-time":"2025-08-21T14:46:04Z","timestamp":1755787564000},"page":"153","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Pediatric Acute Megakaryoblastic Leukemia with a GATA2 Mutation and Monosomy 7: A Case Report and Clinical Management Challenges"],"prefix":"10.3390","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-1968-8809","authenticated-orcid":false,"given":"Gowri","family":"Joshi","sequence":"first","affiliation":[{"name":"Pediatric Hematology ED Student Scientific Club, Department of Pediatric Hematology and Oncology, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-5001-4554","authenticated-orcid":false,"given":"Astil Jisho","family":"Anto","sequence":"additional","affiliation":[{"name":"Pediatric Hematology ED Student Scientific Club, Department of Pediatric Hematology and Oncology, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Md Maaz","family":"Mallick","sequence":"additional","affiliation":[{"name":"Pediatric Hematology ED Student Scientific Club, Department of Pediatric Hematology and Oncology, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-2976-4135","authenticated-orcid":false,"given":"Gwan Yong","family":"Lim","sequence":"additional","affiliation":[{"name":"Pediatric Hematology ED Student Scientific Club, Department of Pediatric Hematology and Oncology, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2040-0258","authenticated-orcid":false,"given":"\u0141ukasz","family":"Hutnik","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology, Medical University of Warsaw, 02-091 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,8,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1097\/ACI.0000000000000126","article-title":"GATA2 deficiency","volume":"15","author":"Hsu","year":"2015","journal-title":"Curr. Opin. Allergy Clin. Immunol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1182\/blood-2015-09-669937","article-title":"Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents","volume":"127","author":"Wlodarski","year":"2016","journal-title":"Blood"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.1182\/blood-2018-99-116603","article-title":"Predictive analysis on prognostic impact of monosomy 7 in AML and identified therapy options for this cohort","volume":"132","author":"Vali","year":"2018","journal-title":"Blood"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2732","DOI":"10.1038\/s41409-021-01374-y","article-title":"Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome","volume":"56","author":"Bortnick","year":"2021","journal-title":"Bone Marrow Transplant."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Santiago, M., Liquori, A., Such, E., Z\u00fa\u00f1iga, \u00c1., and Cervera, J. (2023). The clinical spectrum, diagnosis, and management of GATA2 deficiency. Cancers, 15.","DOI":"10.3390\/cancers15051590"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1380","DOI":"10.1182\/blood.V112.11.1380.1380","article-title":"GATA-2 controls proliferation of megakaryocyte progenitors and its expression contributes to human DS-AMKL","volume":"112","author":"Huang","year":"2008","journal-title":"Blood"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1182\/blood-2012-01-403220","article-title":"GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemia","volume":"120","author":"Greif","year":"2012","journal-title":"Blood"},{"key":"ref_8","first-page":"a034975","article-title":"The role of somatic mutations in acute myeloid leukemia pathogenesis. Cold Spring Harb","volume":"11","author":"Kishtagari","year":"2021","journal-title":"Perspect. Med."},{"key":"ref_9","first-page":"e152","article-title":"GATA2 zinc finger 2 mutation found in acute myeloid leukemia impairs myeloid differentiation","volume":"3","author":"Niimi","year":"2013","journal-title":"Leuk. Res. Rep."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"2179","DOI":"10.1182\/blood.2024025761","article-title":"GATA2 links stemness to chemotherapy resistance in acute myeloid leukemia","volume":"145","author":"Alikarami","year":"2025","journal-title":"Blood"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1621","DOI":"10.1182\/bloodadvances.2023010435","article-title":"Monosomy 7\/del(7q) cause sensitivity to inhibitors of nicotinamide phosphoribosyltransferase in acute myeloid leukemia","volume":"8","author":"Eldfors","year":"2024","journal-title":"Blood Adv."},{"key":"ref_12","unstructured":"Rath, K. (2025, May 29). MRD Status Prior to Allo-HSCT Shows Strong Prognostic Value in AML, MDS. AJMC, Available online: https:\/\/www.ajmc.com\/view\/mrd-status-prior-to-allo-hsct-shows-strong-prognostic-value-in-aml-mds."},{"key":"ref_13","first-page":"102993","article-title":"Approach to diagnosing and managing granulomatous\u2013lymphocytic interstitial lung disease","volume":"78","author":"Catanzaro","year":"2024","journal-title":"EClinicalMedicine"},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Chen, T.T., Lin, C.C., Lo, W.J., Hsieh, C.Y., Lein, M.Y., Lin, C.H., Lin, C.Y., Bai, L.Y., Chiu, C.F., and Yeh, S.P. (2024). Venetoclax plus azacitidine as a bridge treatment to allogeneic stem cell transplantation in unfit patients with acute myeloid leukemia. Cancers, 16.","DOI":"10.3390\/cancers16061082"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1182\/blood-2018-08-868752","article-title":"Venetoclax combined with decitabine or azacitidine in treatment-naive, elderly patients with acute myeloid leukemia","volume":"133","author":"DiNardo","year":"2019","journal-title":"Blood"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"e84","DOI":"10.1111\/bjh.18887","article-title":"A venetoclax and azacitidine bridge-to-transplant strategy for NPM1-mutated acute myeloid leukaemia in molecular failure","volume":"202","author":"Sartor","year":"2023","journal-title":"Br. J. Haematol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1182\/bloodadvances.2018016956","article-title":"Comparison of pediatric allogeneic transplant outcomes using myeloablative busulfan with cyclophosphamide or fludarabine","volume":"2","author":"Harris","year":"2018","journal-title":"Blood Adv."},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Hong, K.T., Bae, S., Sunwoo, Y., Lee, J., Park, H.J., Kim, B.K., Choi, J.Y., Cho, J.-Y., Yu, K.-S., and Oh, J. (2025). Pharmacokinetics of post-transplant cyclophosphamide and its associations with clinical outcomes in pediatric haploidentical hematopoietic stem cell transplantation. Biomark. Res., 13.","DOI":"10.1186\/s40364-025-00781-3"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"181","DOI":"10.5045\/br.2023.2023152","article-title":"Treatment outcome and prognostic factors in relapsed pediatric acute myeloid leukemia","volume":"58","author":"Lee","year":"2023","journal-title":"Blood Res."}],"container-title":["Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2571-841X\/8\/3\/153\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:32:33Z","timestamp":1760034753000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2571-841X\/8\/3\/153"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,21]]},"references-count":19,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2025,9]]}},"alternative-id":["reports8030153"],"URL":"https:\/\/doi.org\/10.3390\/reports8030153","relation":{},"ISSN":["2571-841X"],"issn-type":[{"type":"electronic","value":"2571-841X"}],"subject":[],"published":{"date-parts":[[2025,8,21]]}}}