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

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.

Keywords: TP53; fever; lymph node; myelodysplastic syndrome; myeloid sarcoma.

Figure 1.

Lung high-resolution CT images. (A) CT image of the lung window showing scattered and small nodular high-density shadows (indicated by black arrows). (B) CT image of the mediastinal window showing multiple lymph nodes in the mediastinum, with a short diameter of 1.03 cm (indicated by the red arrow). CT, computed tomography.

Figure 2.

CT image. Full abdominal CT showing multiple small lymph nodes in the mesentery (indicated by the red arrow). CT, computed tomography.

Figure 3.

PET-CT image. (A and B) PET-CT images showing multiple lymph nodes in the bilateral mediastinum, lungs and liver hilum. (A) FDG metabolism is unevenly increased (indicated by the yellow arrows) and (B) the maximum standardized uptake value is ~4.3 (indicated by the red arrow). No significant abnormal increase in FDG metabolism was observed in the rest of the body. PET-CT, positron emission tomography-computed tomography; FDG, fluorodeoxyglucose.

Figure 4.

H&E and immunohistochemical images. (A) Diffuse infiltration of tumor cells with heterocysts (H&E staining; magnification, ×10). (B) CD117(+) (magnification, ×20). (C) Myeloperoxidase(+) (magnification, ×20). (D) Ki-67(+) (magnification, ×20). (E) CD117(+) (magnification, ×20). H&E, hematoxylin and eosin.

Figure 5.

Chromosome images. Chromosome deletion (indicated by black arrows) and an unknown chromosome (indicated by the red arrow). The patient karyotype was 45,XY,-3,-5,-12,-18,+Mar-3[17]/46,XY[3].