Lymph node myeloid sarcoma with TP53‑associated myelodysplastic syndrome: A case report&nbsp;

Mao,Mengke; Deng,Shu

doi:10.3892/ol.2024.14458

Lymph node myeloid sarcoma with TP53‑associated myelodysplastic syndrome: A case report

Authors:
- Mengke Mao
- Shu Deng
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Affiliations: Department of Hematology, The First Affiliated Hospital of Zhejiang Chinese Medical University (Zhejiang Provincial Hospital of Traditional Chinese Medicine), Hangzhou, Zhejiang 310006, P.R. China
Published online on: May 15, 2024 https://doi.org/10.3892/ol.2024.14458
Article Number: 324
Copyright: © Mao et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Myeloid sarcoma (MS) is a rare extramedullary tumor mass that carries a high risk of progression to acute myeloid leukemia (AML), and patients with MS are commonly treated with the AML regimen. However, MS is frequently misdiagnosed due to its lack of clinical specificity. Patients with MS who harbor tumor protein p53 (TP53) mutations and complex karyotypes are considered to have a poorer prognosis. The present study reports a case of lymph node MS with TP53 (V173G)‑related myelodysplastic syndrome (MDS). The mass was first considered to be a lymphoma and treated as such. However, following immunohistochemical analysis, which revealed cells positive for CD43, myeloperoxidase and CD117, the patient was later diagnosed with MS combined with MDS. The patient went into complete remission after the first cycle of chemotherapy, and showed a decrease in platelet, red blood cell and white blood cell counts following the second cycle of chemotherapy. After the third chemotherapy, agranulocytosis occurred, leading to refractory pneumonia and eventually death due to respiratory failure. MS with TP53‑related MDS has a low incidence rate, a poor prognosis and a short survival time. The clinical manifestations of MS are non‑specific and easy to misdiagnose, leading to delayed diagnosis and treatment, and ultimately worsening the prognosis of the patients. Therefore, a lymph node biopsy should be performed as soon as possible for patients with lymph node enlargement, and early treatment should be carried out to prolong the survival period.

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1	Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M and Vardiman JW: The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 127:2391–2405. 2016. View Article : Google Scholar : PubMed/NCBI
2	Zhao H, Dong Z, Wan D, Cao W, Xing H, Liu Z, Fan J, Wang H, Lu R, Zhang Y, et al: Clinical characteristics, treatment, and prognosis of 118 cases of myeloid sarcoma. Sci Rep. 12:67522022. View Article : Google Scholar : PubMed/NCBI
3	Almond LM, Charalampakis M, Ford SJ, Gourevitch D and Desai A: Myeloid sarcoma: Presentation, diagnosis, and treatment. Clin Lymphoma Myeloma Leuk. 17:263–267. 2017. View Article : Google Scholar : PubMed/NCBI
4	Mandhan N, Yassine F, Li K and Badar T: Bladder myeloid sarcoma with TP53 mutated myelodysplastic syndrome/myeloproliferative neoplasm overlap syndrome: Response to Decitabine-Venetoclax regimen. Leuk Res Rep. 17:1002862021.PubMed/NCBI
5	Bakst RL, Tallman MS, Douer D and Yahalom J: How I treat extramedullary acute myeloid leukemia. Blood. 118:3785–3793. 2011. View Article : Google Scholar : PubMed/NCBI
6	Kaur V, Swami A, Alapat D, Abdallah AO, Motwani P, Hutchins LF and Jethava Y: Clinical characteristics, molecular profile and outcomes of myeloid sarcoma: A single institution experience over 13 years. Hematology. 23:17–24. 2018. View Article : Google Scholar : PubMed/NCBI
7	Ganzel C, Manola J, Douer D, Rowe JM, Fernandez HF, Paietta EM, Litzow MR, Lee JW, Luger SM, Lazarus HM, et al: Tallman, 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. J Clin Oncol. 34:3544–3553. 2016. View Article : Google Scholar : PubMed/NCBI
8	Wang HQ and Li J: Clinicopathological features of myeloid sarcoma: Report of 39 cases and literature review. Pathol Res Pract. 212:817–824. 2016. View Article : Google Scholar : PubMed/NCBI
9	Toguchida J, Yamaguchi T, Ritchie B, Beauchamp RL, Dayton SH, Herrera GE, Yamamuro T, Kotoura Y, Sasaki MS and Little JB: Mutation spectrum of the p53 gene in bone and soft tissue sarcomas. Cancer Res. 52:6194–6199. 1993.PubMed/NCBI
10	Thoenen E, Curl A and Iwakuma T: TP53 in bone and soft tissue sarcomas. Pharmacol Ther. 202:149–164. 2019. View Article : Google Scholar : PubMed/NCBI
11	Ortiz-Cuaran S, Cox D, Villar S, Friesen MD, Durand G, Chabrier A, Khuhaprema T, Sangrajrang S, Ognjanovic S, Groopman JD, et al: Association between TP53 R249S mutation and polymorphisms in TP53 intron 1 in hepatocellular carcinoma. Genes Chromosomes Cancer. 52:912–919. 2013. View Article : Google Scholar : PubMed/NCBI
12	Welch JS, Petti AA, Miller CA, Fronick CC, O'Laughlin M, Fulton RS, Wilson RK, Baty JD, Duncavage EJ, Tandon B, et al: TP53 and Decitabine in acute myeloid leukemia and Myelodysplastic Syndromes. N Engl J Med. 375:2023–2036. 2016. View Article : Google Scholar : PubMed/NCBI
13	Liang J and Yang L, Yang B, Tian Y, Ren J and Yang L: Clinical characteristics, treatment options, and prognosis of myeloid sarcoma: Analysis using the SEER database. Hematology. 28:22478982023. View Article : Google Scholar : PubMed/NCBI
14	Gajendra S, Goel S, Sharma R, Dhiman P and Sachdev R: Myeloid sarcoma presented as generalized lymphadenopathy: Mimicking malignant lymphoma. Indian J Hematol Blood Transfus. 34:173–177. 2018. View Article : Google Scholar : PubMed/NCBI
15	Fang L, Hua C, Jie B, et al: A case of gastric granulocytic sarcoma misdiagnosed as non Hodgkin's lymphoma. Int J Lab Med. 37:3524–3526. 2016.(In Chinese).
16	Kawamoto K, Miyoshi H, Yoshida N, Takizawa J, Sone H and Ohshima K: Clinicopathological, cytogenetic, and prognostic analysis of 131 myeloid sarcoma patients. Am J Surg Pathol. 40:1473–1483. 2016. View Article : Google Scholar : PubMed/NCBI
17	Shallis RM, Gale RP, Lazarus HM, Roberts KB, Xu ML, Seropian SE, Gore SD and Podoltsev NA: Myeloid sarcoma, chloroma, or extramedullary acute myeloid leukemia tumor: A tale of misnomers, controversy and the unresolved. Blood Rev. 47:1007732021. View Article : Google Scholar : PubMed/NCBI
18	Ray-Coquard I, Blay JY, Italiano A, Le Cesne A, Penel N, Zhi J, Heil F, Rueger R, Graves B, Ding M, et al: Effect of the MDM2 antagonist RG7112 on the P53 pathway in patients with MDM2-amplified, well-differentiated or dedifferentiated liposarcoma: An exploratory proof-of-mechanism study. Lancet Oncol. 13:1133–1140. 2012. View Article : Google Scholar : PubMed/NCBI
19	Gopalakrishnan V, Amini B, Wagner MJ, Nowell EN, Lazar AJ, Lin PP, Benjamin RS and Araujo DM: Synovial sarcoma of the head and neck: A single institution review. Sarcoma. 2017:20167522017. View Article : Google Scholar : PubMed/NCBI
20	Lee JY, Chung H, Cho H, Jang JE, Kim Y, Kim SJ, Kim JS, Hyun SY, Min YH and Cheong JW: Clinical characteristics and treatment outcomes of isolated myeloid sarcoma without bone marrow involvement: A single-institution experience. Blood Res. 52:184–192. 2017. View Article : Google Scholar : PubMed/NCBI
21	Imrie KR, Kovacs MJ, Selby D, Lipton J, Patterson BJ, Pantalony D, Poldre P, Ngan BY and Keating A: Isolated chloroma: The effect of early antileukemic therapy. Ann Intern Med. 123:351–353. 1995. View Article : Google Scholar : PubMed/NCBI
22	Kim K, Maiti A, Loghavi S, Pourebrahim R, Kadia TM, Rausch CR, Furudate K, Daver NG, Alvarado Y, Ohanian M, et al: Outcomes of TP53-mutant acute myeloid leukemia with decitabine and venetoclax. Cancer. 127:3772–3781. 2021. View Article : Google Scholar : PubMed/NCBI
23	Hackanson B and Daskalakis M: Decitabine. Recent Results Cancer Res. 201:269–297. 2014. View Article : Google Scholar : PubMed/NCBI
24	Gornicec M, Wolfler A, Stanzel S, Sill H and Zebisch A: Evidence for a role of decitabine in the treatment of myeloid sarcoma. Ann Hematol. 96:505–506. 2017. View Article : Google Scholar : PubMed/NCBI
25	Soussi T and Lozano G: p53 mutation heterogeneity in cancer. Biochem Biophys Res Commun. 331:834–842. 2005. View Article : Google Scholar : PubMed/NCBI
26	Goh AM, Xue Y, Leushacke M, Li L, Wong JS, Chiam PC, Rahmat SA, Mann MB, Mann KM, Barker N, et al: Mutant p53 accumulates in cycling and proliferating cells in the normal tissues of p53 R172H mutant mice. Oncotarget. 6:17968–17980. 2015. View Article : Google Scholar : PubMed/NCBI
27	Asada N, Tsuchiya H and Tomita K: De novo deletions of p53 gene and wild-type p53 correlate with acquired cisplatin-resistance in human osteosarcoma OST cell line. Anticancer Res. 19:5131–5137. 1999.PubMed/NCBI
28	Liu Y, Hu X, Han C, Wang L, Zhang X, He X and Lu X: Targeting tumor suppressor genes for cancer therapy. Bioessays. 37:1277–1286. 2015. View Article : Google Scholar : PubMed/NCBI
29	Lane D and Levine A: p53 research: The past thirty years and the next thirty years. Cold Spring Harb Perspect Biol. 2:a0008932010. View Article : Google Scholar : PubMed/NCBI
30	Al-Romaih K, Bayani J, Vorobyova J, Karaskova J, Park PC, Zielenska M and Squire JA: Chromosomal instability in osteosarcoma and its association with centrosome abnormalities. Cancer Genet Cytogenet. 144:91–99. 2003. View Article : Google Scholar : PubMed/NCBI
31	Zuffa E, Mancini M, Brusa G, Pagnotta E, Hattinger CM, Serra M, Remondini D, Castellani G, Corrado P, Barbieri E and Santucci MA: P53 oncosuppressor influences selection of genomic imbalances in response to ionizing radiations in human osteosarcoma cell line SAOS-2. Int J Radiat Biol. 84:591–601. 2008. View Article : Google Scholar : PubMed/NCBI
32	Martin JW, Squire JA and Zielenska M: The genetics of osteosarcoma. Sarcoma. 2012:6272542012. View Article : Google Scholar : PubMed/NCBI
33	Daver NG, Maiti A, Kadia TM, Vyas P, Majeti R, Wei AH, Garcia-Manero G, Craddock C, Sallman DA and Kantarjian HM: TP53-mutated myelodysplastic syndrome and acute myeloid leukemia: Biology, current therapy, and future directions. Cancer Discov. 12:2516–2529. 2022. View Article : Google Scholar : PubMed/NCBI
34	Olivier M, Hollstein M and Hainaut P: TP53 mutations in human cancers: Origins, consequences, and clinical use. Cold Spring Harb Perspect Biol. 2:a0010082010. View Article : Google Scholar : PubMed/NCBI
35	Middeke JM, Herold S, Rucker-Braun E, Berdel WE, Stelljes M, Kaufmann M, Schäfer-Eckart K, Baldus CD, Stuhlmann R, Ho AD, et al: TP53 mutation in patients with high-risk acute myeloid leukaemia treated with allogeneic haematopoietic stem cell transplantation. Br J Haematol. 172:914–922. 2016. View Article : Google Scholar : PubMed/NCBI
36	Veldore VH, Patil S, Satheesh CT, Shashidhara HP, Tejaswi R, Prabhudesai SA, Krishnamoorthy N, Hazarika D, Naik R, Rao RM and Kumar BS: Genomic profiling in a homogeneous molecular subtype of non-small cell lung cancer: An effort to explore new drug targets. Indian J Cancer. 52:243–248. 2015. View Article : Google Scholar : PubMed/NCBI
37	Haefliger S, Harder D, Kovac M, Linkeschova K, Eufinger H and Baumhoer D: Osteosarcoma of the mandible in a patient with Florid Cemento-Osseous Dysplasia and Li-Fraumeni syndrome: A rare coincidence. Head Neck Pathol. 15:704–708. 2021. View Article : Google Scholar : PubMed/NCBI
38	Pastoret C, Houot R, Llamas-Gutierrez F, Boulland ML, Marchand T, Tas P, Ly-Sunnaram B, Gandemer V, Lamy T, Roussel M and Fest T: Detection of clonal heterogeneity and targetable mutations in myeloid sarcoma by high-throughput sequencing. Leuk Lymphoma. 58:1008–1012. 2016. View Article : Google Scholar : PubMed/NCBI
39	Kryczka J, Kryczka J, Czarnecka-Chrebelska KH and Brzeziańska-Lasota E: Molecular mechanisms of chemoresistance induced by cisplatin in NSCLC cancer therapy. Int J Mol Sci. 22:88852021. View Article : Google Scholar : PubMed/NCBI
40	Xiangli L, Mingli Z, Jiao W, Jie C, Yu C, Zhenyi N and Xuetao L: Expression and significance of PD-L1, Ki-67, TP53, and EGFR in lung adenocarcinoma tissues. J Basic Clin Oncol. 36:324–327. 2023.(In Chinese).
41	Shen W, Xi H, Wei B and Chen L: The prognostic role of matrix metalloproteinase 2 in gastric cancer: A systematic review with meta-analysis. J Cancer Res Clin Oncol. 140:1003–1009. 2014.(In Chinese). View Article : Google Scholar : PubMed/NCBI