Published online Sep 16, 2023. doi: 10.12998/wjcc.v11.i26.6206
Peer-review started: May 6, 2023
First decision: August 4, 2023
Revised: August 17, 2023
Accepted: August 23, 2023
Article in press: August 23, 2023
Published online: September 16, 2023
Processing time: 124 Days and 10.1 Hours
Patients with trisomy 8 consistently present with myeloid neoplasms and/or auto-inflammatory syndrome. A possible link between myelodysplastic syndromes (MDS) with trisomy 8 (+8-MDS) and inflammatory disorders is well recognized, several cases having been reported. However, inflammatory disorders in patients without MDS have been largely overlooked. Generally, Behçet's disease is the most common type in +8-MDS. However, inflammatory disorders with pulmonary involvement are less frequent, and no effective treatment has been established.
A 27-year-old man with recurrent fever, fatigue for > 2 mo, and unconsciousness for 1 day was admitted to our emergency department with a provisional diagnosis of severe pneumonia. Vancomycin and imipenem were administered and sputum collected for metagenomic next-generation sequencing. Epstein–Barr virus and Mycobacterium kansasii were detected. Additionally, chromosomal analysis showed duplications on chromosome 8. Two days later, repeat metagenomic next-generation sequencing was performed with blood culture. Cordyceps portugal, M. kansasii, and Candida portugal were detected, and duplications on chromosome 8 confirmed. Suspecting hematological disease, we aspirated a bone marrow sample from the iliac spine, examination of which showed evidence of infection. We added fluconazole as further antibiotic therapy. Seven days later, the patient’s condition had not improved, prompting addition of methylprednisolone as an anti-inflammatory agent. Fortunately, this treatment was effective and the patient eventually recovered.
Severe inflammatory disorders with pulmonary involvement can occur in patients with trisomy 8. Methylprednisolone may be an effective treatment.
Core Tip: Trisomy 8 patients without myelodysplastic syndrome consistently present with auto-inflammatory syndrome, the gastrointestinal tract being the most commonly affected site. Because initial presentations with severe pneumonia are less common in trisomy 8 patients, there is limited experience on treating this. We treated a 27-year-old patient with trisomy 8 who was diagnosed with severe pneumonia and responded to methylprednisolone. The patient was eventually discharged in good clinical condition. This case shows that, in trisomy 8 patients, severe inflammatory disorders with pulmonary involvement can occur before progression to hematological malignancies. Steroids may play an important role in treating these patients.