Journal of Yeungnam Medical Science

Case report

Severe congenital neutropenia mimicking chronic idiopathic neutropenia: a case report: Juhyung Kim, Soyoon Hwang, Narae Hwang, Yeonji Lee, Hee Jeong Cho, Joon Ho Moon, Sang Kyun Sohn, Dong Won Baek; J Yeungnam Med Sci. 2023;40(3):283-288. Published online July 28, 2022; DOI: https://doi.org/10.12701/jyms.2022.00353

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Abstract PDF Supplementary Material: Severe chronic neutropenia is classified as severe congenital, cyclic, autoimmune, or idiopathic. However, there is a lot of uncertainty regarding the diagnosis of severe congenital neutropenia (SCN) and chronic idiopathic neutropenia, and this uncertainty affects further evaluations and treatments. A 20-year-old man presented with fever and knee abrasions after a bicycle accident. On admission, his initial absolute neutrophil count (ANC) was 30/µL. He had no medical history of persistent severe neutropenia with periodic oscillation of ANC. Although his fever resolved after appropriate antibiotic therapy, ANC remained at 80/µL. Bone marrow (BM) aspiration and biopsy were performed, and a BM smear showed myeloid maturation arrest. Moreover, genetic mutation test results showed a heterozygous missense variant in exon 4 of the neutrophil elastase ELANE: c597+1G>C (pV190-F199del). The patient was diagnosed with SCN. After discharge, we routinely checked his ANC level and monitored any signs of infection with minimum use of granulocyte colony-stimulating factor (G-CSF), considering its potential risk of leukemic transformation. Considering that SCN can be fatal, timely diagnosis and appropriate management with G-CSF are essential. We report the case of a patient with SCN caused by ELANE mutation who had atypical clinical manifestations. For a more accurate diagnosis and treatment of severe chronic neutropenia, further studies are needed to elucidate the various clinical features of ELANE.

Original article

Clinical impact of spine magnetic resonance imaging as a valuable prognostic tool for patients with multiple myeloma: a retrospective study: Jung Min Lee, Hee Jeong Cho, Joon-Ho Moon, Sang Kyun Sohn, Byunggeon Park, Dong Won Baek; J Yeungnam Med Sci. 2022;39(4):300-308. Published online March 23, 2022; DOI: https://doi.org/10.12701/jyms.2021.01648

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Background
This study investigated the prognostic impact of spine magnetic resonance imaging (MRI) in patients newly diagnosed with multiple myeloma (MM).
Methods
We retrospectively evaluated 214 patients who were newly diagnosed with MM between March 2015 and December 2019. The patients were classified into five different infiltration patterns based on spine MRI as follows: (1) normal appearance, (2) focal, (3) diffuse, (4) combined focal and diffuse infiltration, and (5) “salt-and-pepper.”
Results
Forty patients (18.7%) showed a normal appearance, whereas focal, diffuse, combined focal and diffuse infiltration, and “salt-and-pepper” patterns were identified in 68 (31.8%), 40 (18.7%), 52 (24.3%), and 14 patients (6.5%), respectively. The patients with normal and “salt-and-pepper” patterns were younger than patients with other patterns (median age, 61.6 vs. 66.8 years; p=0.001). Moreover, 63% and 59.3% of patients with normal and “salt-and-pepper” patterns were scored International Staging System (ISS) stage I and revised ISS (R-ISS) stage I, respectively, whereas only 12.5% of patients with other patterns were scored ISS stage I and R-ISS stage I. Patients with normal and “salt-and-pepper” patterns had a better prognosis than those with other patterns, whereas relapse and death rates were significantly higher in patients with focal, diffuse, and combined MRI patterns.
Conclusion
Characteristic MRI findings have a significant prognostic value for long-term survival in patients newly diagnosed with MM. In particular, focal, diffuse, and combined focal and diffuse infiltration patterns are unfavorable prognostic factors.

Citations

Citations to this article as recorded by

Lesions of the spinal cord caused by multiple myeloma: A systematic review and meta-analysis regarding the neurosurgical aspects of patient management
Daniel Encarnacion, Gennady E Chmutin, Ismail Bozkurt, Jack Wellington, Emmanuel Batista Geraldino, Bipin Chaurasia
Journal of Craniovertebral Junction and Spine.2023; 14(4): 313. CrossRef

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