Myelodysplastic syndrome in a 30-year-old man with coronavirus disease 2019 (COVID-19): a diagnostic challenge

Qing, Xin; Cai, Jennifer; Rock, Adam

doi:10.4322/acr.2021.274

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Sumário

Clinical Case Report • Autops. Case Rep. 11 • 2021 • https://doi.org/10.4322/acr.2021.274 copy

Myelodysplastic syndrome in a 30-year-old man with coronavirus disease 2019 (COVID-19): a diagnostic challenge

Authorship SCIMAGO INSTITUTIONS RANKINGS

ABSTRACT

Background

Myelodysplastic syndromes (MDS) mainly occur in the elderly but can rarely affect younger individuals too. The correct diagnosis relies on careful morphologic evaluation, cytogenetic/molecular results, and excluding reactive conditions mimicking MDS. We present the clinical, pathologic, cytogenetic, and molecular features of a case of MDS with excess blasts-2 (MDS-EB-2) in a 30-year-old male who was found to have pancytopenia during his hospitalization for coronavirus disease 2019 (COVID-19) and discuss the diagnostic challenges of MDS in patients with COVID-19.

Case presentation

A 30-year-old man presented to an outside hospital with fever, chills, weakness, coughing spells, dizziness and shortness of breath and was diagnosed with bilateral pneumonia due to COVID-19. At the outside hospital, he was found to be pancytopenic, and a subsequent bone marrow aspiration and biopsy raised concern for a COVID-19 induced hemophagocytic lymphohistiocytosis. In addition, MDS could not be ruled out. The patient was thus referred to our institute for further management. The patient’s peripheral blood showed pancytopenia with occasional dysplastic neutrophils and a few teardrop cells. Given the diagnostic uncertainty, a bone marrow aspiration and a biopsy were repeated revealing a hypercellular bone marrow with erythroid hyperplasia, megakaryocytic hyperplasia, trilineage dysplasia, increased blasts (13%), many ring sideroblasts, and mild to moderate myelofibrosis, consistent with MDS-EB-2. Chromosomal analysis revealed isochromosome 14. Next generation sequencing demonstrated SF3B1 K700E mutation.

Discussion and conclusion

The diagnosis of MDS can be challenging, particularly in young patients. Cytopenia and myelodysplastic features have been reported in COVID-19 patients, making the diagnosis of MDS more elusive. A careful pathologic examination of the bone marrow with ancillary studies including flow cytometry, immunohistochemistry, and cytogenetic and molecular studies in combination with a thorough clinical evaluation, leads to the accurate diagnosis.

Keywords
Myelodysplastic Syndromes; COVID-19; Bone Marrow; Cytogenetics; SARS-CoV-2

Test	Result	Normal Range	Test	Result	Normal Range
Sodium	136	136-144 mmol/L	Haptoglobin	27	36-195 mg/dL
Potassium	4.1	3.6-5.1 mmol/L	Iron	150	95-182 mcg/dL
Chloride	102	101-111 mmol/L	Ferritin	565.3	23.9-336.2 ng/mL
CO₂	27	22-32 mmol/L	TIBC	363	261-478 mcg/dL
BUN	13	8-20 mg/dL	Iron saturation	41	15-50%
Creatinine	0.91	0.64-1.27 mg/dL	Folate	9.9	≥ 5.9 ng/mL
Calcium	9.3	8.9-10.3 mg/dL	Vitamin B12	422	180-914 pg/mL
Total protein	7.0	6.4-8.3 g/dL	MMA	103	87-318 nmol/L
Albumin	4.5	3.5-4.8 g/dL	LDH	209	98-192 U/L
AP	60	38-126 U/L	Copper level	91	70-175 mcg/dL
AST	35	15-41 U/L	Triglyceride	101	≤ 149 mg/dL
ALT	69	10-40 U/L	Interleukin 2R	2067	532-1891 pg/mL
Total bilirubin	1.7	0.3-1.2 mg/dL	TSH	2.449	0.350-4.940 µIU/mL

Hospital Universitário da Universidade de São Paulo Hospital Universitário da Universidade de São Paulo, Av. Prof. Lineu Prestes, 2565 - Cidade Universitária, 05508-000 - São Paulo - SP - Brasil, (16) 3307-2068, (16) 3307-2068 - São Paulo - SP - Brazil
E-mail: autopsy.hu@gmail.com

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[1] Authors’ contributions: Qing X conceived of the presented idea. Qing X and Cai J performed the literature search and wrote the manuscript. Rock A provided critical feedback and helped shape the manuscript.