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Myelodysplastic syndrome with trisomy 8 presenting periodic fever and multiple MEFV gene variants outside exon 10: a case report

Takahashi, Noriyuki Hanajiri, Ryo Suzuki, Masashi Anan, Chise Inagaki, Atsushi Kishida, Dai Ozawa, Shohei Kohri, Sho Kamiya, Nobuhide Sato, Motoki Sato, Juichi 名古屋大学

2023.02

概要

Studies have shown that cellular genetic abnormalities (eg, chromosomal abnormalities
and somatic variants) in patients with myelodysplastic syndrome (MDS) are associated with
autoinflammatory disease.1,2 Autoinflammatory disease is characterized by the dysregulation
of innate immunity, in which myeloid lineage cells (ie, neutrophils) and monocyte lineage
cells (ie, macrophages) are important cellular players.1,2 The discovery of a novel adult-onset
autoinflammatory disease associated with MDS has indicated the importance of characterizing
the autoinflammatory disease in MDS cases.2,3 Among 134 patients with MDS, 61 (46.3%)
had an autoinflammatory condition, including recurrent fever, polymyalgia, arthralgia, arthritis,
erythema, and pleural effusion.1 Trisomy 8 is a common chromosomal abnormality in patients
with MDS, occurring in approximately 10% of cases.4 Trisomy 8 in patients with MDS causes
autoinflammatory conditions, especially Behçet’s disease-like symptoms (eg, fever, abdominal
pain, and ulcerative intestinal lesions).5-9 Only a few other inflammatory conditions are related to
MDS trisomy 8: pyoderma gangrenosum, Sweet’s syndrome, pulmonary alveolar proteinosis, and
inflammatory arthritis.10 Although some reports have suggested that trisomy 8 in patients with
MDS leads to periodic fever and erythema nodosum without intestinal mucosal damage, these
cases are currently recognized as being within the category of Behçet’s disease-like symptoms.8,9
Gain-of-function variants in pyrin, a product of the MEFV gene, cause familial Mediterranean
fever (FMF).11 FMF is the most common autoinflammatory disease, affecting 120,000 people
worldwide.11 The Tel-Hashomer criteria described by Livneh et al are widely used to diagnose
FMF.12 They include five major criteria and four minor criteria. The five major criteria are: 1)
peritonitis; 2) pleuritis or pericarditis; 3) monoarthritis; 4) fever alone; and 5) incomplete abdominal attacks differing from the typical attacks. The four minor criteria are: 1) and 2) incomplete
attacks differing from the typical attacks, involving the chest or joints, respectively; 3) exertional
leg pain; and 4) favorable response to colchicine. To diagnose FMF, one or more major criteria
or two or more minor criteria should be met. Typical symptoms of FMF, including pleuritis and
peritonitis, are related to variants in exon 10 of the MEFV gene.13,14 Conversely, other MEFV
variants (outside exon 10), which are more common in Japanese individuals, produce atypical
symptoms, including myalgia and erythema.13-15 Tanaka et al reported a patient with MDS who
had trisomy 8 and an MEFV variant (outside exon 10) that manifested as periodic fevers and
intestinal Behçet’s disease-like symptoms.16 However, to the best of our knowledge, no reports
have been published describing MDS trisomy 8 presenting with periodic fever involving multiple
MEFV variants (outside exon 10) with a suspicion of autoinflammatory conditions other than
Behçet’s disease-like symptoms. Here, we describe a patient with MDS and trisomy 8 exhibiting
multiple MEFV variants outside exon 10, although his symptoms such as periodic fever, as well
as chest/abdominal pain, myalgia, and erythema, did not fulfill the diagnostic criteria of FMF. ...

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参考文献

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References End

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