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Bone marrow myeloid vacuolization

MedGen UID:
1841590
•Concept ID:
C5826546
•
Finding
Synonyms: Bone marrow: myeloid vacuolization; Vacuolization of bone marrow myeloid precursors
 
HPO: HP:0034636

Definition

Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of myeloid precursors in the bone marrow. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBone marrow myeloid vacuolization

Professional guidelines

PubMed

Methodology and clinical utility of longitudinal UBA1 tracking in VEXAS syndrome.
Gurnari C, Galossi E, Lumia E, Piciocchi A, Divona M, Casciani E, Romano F, Diral E, Tomelleri A, Caroni F, Vitale A, Bergonzi GM, Condorelli A, Battipaglia G, Morsia E, Crisà E, Triggianese P, Savi A, Cardamone C, Dragani M, Rivoli G, Pilo F, Firinu D, Plebani S, D'Agostino F, D'Ambrosio A, Sockel K, Papayannidis C, Salmoiraghi S, Pane F, Bocchia M, Cantarini L, Frigeni M, Campochiaro C, Dagna L, Greco R, Ciceri F, Spinelli O, Thiede C, Voso MT
Br J Haematol 2025 Jan;206(1):331-336. Epub 2024 Nov 13 doi: 10.1111/bjh.19897. PMID: 39533868
VEXAS syndrome: Clinical manifestations, diagnosis, and treatment.
Loeza-Uribe MP, Hinojosa-Azaola A, Sánchez-Hernández BE, Crispín JC, Apodaca-Chávez E, Ferrada MA, Martín-Nares E
Reumatol Clin (Engl Ed) 2024 Jan;20(1):47-56. Epub 2023 Dec 29 doi: 10.1016/j.reumae.2023.12.004. PMID: 38160120
VEXAS syndrome: Clinical, hematologic features and a practical approach to diagnosis and management.
Koster MJ, Lasho TL, Olteanu H, Reichard KK, Mangaonkar A, Warrington KJ, Patnaik MM
Am J Hematol 2024 Feb;99(2):284-299. Epub 2023 Nov 11 doi: 10.1002/ajh.27156. PMID: 37950858

Recent clinical studies

Etiology

Diagnostic capabilities, clinical features, and longitudinal UBA1 clonal dynamics of a nationwide VEXAS cohort.
Gurnari C, Pascale MR, Vitale A, Diral E, Tomelleri A, Galossi E, Falconi G, Bruno A, Crisafulli F, Frassi M, Cattaneo C, Bertoli D, Bernardi M, Condorelli A, Morsia E, Poloni A, Crisà E, Caravelli D, Triggianese P, Brussino L, Battipaglia G, Bindoli S, Sfriso P, Caroni F, Dragani M, Mallegni F, Pilo F, Firinu D, Curti A, Papayannidis C, Olivieri A, Kordasti S, Albano F, Pane F, Musto P, Bocchia M, Lugli E, Breccia M, Frigeni M, Dagna L, Greco R, Franceschini F, Campochiaro C, Cantarini L, Voso MT
Am J Hematol 2024 Feb;99(2):254-262. Epub 2023 Dec 18 doi: 10.1002/ajh.27169. PMID: 38108611
VEXAS-Syndrome, a newly described autoinflammatory systemic disease with dermatologic manifestations.
Baur V, Stoevesandt J, Hueber A, Hüffmeier U, Kneitz H, Morbach H, Schultz E, Goebeler M
J Dtsch Dermatol Ges 2023 Dec;21(12):1456-1463. Epub 2023 Nov 12 doi: 10.1111/ddg.15227. PMID: 37953404
Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS.
van der Made CI, Potjewijd J, Hoogstins A, Willems HPJ, Kwakernaak AJ, de Sevaux RGL, van Daele PLA, Simons A, Heijstek M, Beck DB, Netea MG, van Paassen P, Elizabeth Hak A, van der Veken LT, van Gijn ME, Hoischen A, van de Veerdonk FL, Leavis HL, Rutgers A
J Allergy Clin Immunol 2022 Jan;149(1):432-439.e4. Epub 2021 May 25 doi: 10.1016/j.jaci.2021.05.014. PMID: 34048852
UBA1 Variations in Neutrophilic Dermatosis Skin Lesions of Patients With VEXAS Syndrome.
Zakine E, Schell B, Battistella M, Vignon-Pennamen MD, Chasset F, Mahévas T, Cordoliani F, Adès L, Sébert M, Delaleu J, Jachiet M, Lepelletier C, Lemaire P, Chauvel C, Dhouaieb B, Kim R, Cassius C, Georgin-Lavialle S, Mekinian A, Bagot M, Braun T, Rousset L, Begon E, de Masson A, Fenaux P, Clappier E, Bouaziz JD
JAMA Dermatol 2021 Nov 1;157(11):1349-1354. doi: 10.1001/jamadermatol.2021.3344. PMID: 34495287Free PMC Article
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1.
Obiorah IE, Patel BA, Groarke EM, Wang W, Trick M, Ombrello AK, Ferrada MA, Wu Z, Gutierrez-Rodrigues F, Lotter J, Wilson L, Hoffmann P, Cardona DO, Patel N, Dulau-Florea A, Kastner DL, Grayson PC, Beck DB, Young NS, Calvo KR
Blood Adv 2021 Aug 24;5(16):3203-3215. doi: 10.1182/bloodadvances.2021004976. PMID: 34427584Free PMC Article

Diagnosis

Methodology and clinical utility of longitudinal UBA1 tracking in VEXAS syndrome.
Gurnari C, Galossi E, Lumia E, Piciocchi A, Divona M, Casciani E, Romano F, Diral E, Tomelleri A, Caroni F, Vitale A, Bergonzi GM, Condorelli A, Battipaglia G, Morsia E, Crisà E, Triggianese P, Savi A, Cardamone C, Dragani M, Rivoli G, Pilo F, Firinu D, Plebani S, D'Agostino F, D'Ambrosio A, Sockel K, Papayannidis C, Salmoiraghi S, Pane F, Bocchia M, Cantarini L, Frigeni M, Campochiaro C, Dagna L, Greco R, Ciceri F, Spinelli O, Thiede C, Voso MT
Br J Haematol 2025 Jan;206(1):331-336. Epub 2024 Nov 13 doi: 10.1111/bjh.19897. PMID: 39533868
VEXAS syndrome: An update.
Khitri MY, Hadjadj J, Mekinian A, Jachiet V
Joint Bone Spine 2024 Jul;91(4):105700. Epub 2024 Feb 1 doi: 10.1016/j.jbspin.2024.105700. PMID: 38307404
VEXAS syndrome: Clinical manifestations, diagnosis, and treatment.
Loeza-Uribe MP, Hinojosa-Azaola A, Sánchez-Hernández BE, Crispín JC, Apodaca-Chávez E, Ferrada MA, Martín-Nares E
Reumatol Clin (Engl Ed) 2024 Jan;20(1):47-56. Epub 2023 Dec 29 doi: 10.1016/j.reumae.2023.12.004. PMID: 38160120
VEXAS syndrome: Clinical, hematologic features and a practical approach to diagnosis and management.
Koster MJ, Lasho TL, Olteanu H, Reichard KK, Mangaonkar A, Warrington KJ, Patnaik MM
Am J Hematol 2024 Feb;99(2):284-299. Epub 2023 Nov 11 doi: 10.1002/ajh.27156. PMID: 37950858
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC
Orphanet J Rare Dis 2022 Oct 17;17(1):379. doi: 10.1186/s13023-022-02538-9. PMID: 36253820Free PMC Article

Therapy

Approaches for the diagnosis and treatment of VEXAS syndrome: the importance of clinical suspicion and the use of methotrexate.
De Santis M, Tonutti A, Motta F, Todisco G, Manes N, Milanesi C, Caselli R, Albertazzi S, Bonometti A, Selmi C, Della Porta MG
Ann Hematol 2024 Nov;103(11):4789-4791. Epub 2024 Aug 23 doi: 10.1007/s00277-024-05863-0. PMID: 39177793
Mitochondrial toxicity induced by linezolid causing lactic acidosis.
Sharma K, Keri VC, Kumar TP, Sethi P, Dass J, Mishra RK
Trop Doct 2023 Apr;53(2):315-316. Epub 2023 Mar 8 doi: 10.1177/00494755231159292. PMID: 36890727
Successful azacitidine therapy for myelodysplastic syndrome associated with VEXAS syndrome.
Kataoka A, Mizumoto C, Kanda J, Iwasaki M, Sakurada M, Oka T, Fujimoto M, Yamamoto Y, Yamashita K, Nannya Y, Ogawa S, Takaori-Kondo A
Int J Hematol 2023 Jun;117(6):919-924. Epub 2023 Jan 14 doi: 10.1007/s12185-023-03532-y. PMID: 36641501
CPX-351: a nanoscale liposomal co-formulation of daunorubicin and cytarabine with unique biodistribution and tumor cell uptake properties.
Mayer LD, Tardi P, Louie AC
Int J Nanomedicine 2019;14:3819-3830. Epub 2019 May 23 doi: 10.2147/IJN.S139450. PMID: 31213803Free PMC Article
Bone marrow and blood findings after marrow transplantation and rhGM-CSF therapy.
Ryder JW, Lazarus HM, Farhi DC
Am J Clin Pathol 1992 May;97(5):631-7. doi: 10.1093/ajcp/97.5.631. PMID: 1575207

Prognosis

VEXAS syndrome: Clinical manifestations, diagnosis, and treatment.
Loeza-Uribe MP, Hinojosa-Azaola A, Sánchez-Hernández BE, Crispín JC, Apodaca-Chávez E, Ferrada MA, Martín-Nares E
Reumatol Clin (Engl Ed) 2024 Jan;20(1):47-56. Epub 2023 Dec 29 doi: 10.1016/j.reumae.2023.12.004. PMID: 38160120
Diagnostic capabilities, clinical features, and longitudinal UBA1 clonal dynamics of a nationwide VEXAS cohort.
Gurnari C, Pascale MR, Vitale A, Diral E, Tomelleri A, Galossi E, Falconi G, Bruno A, Crisafulli F, Frassi M, Cattaneo C, Bertoli D, Bernardi M, Condorelli A, Morsia E, Poloni A, Crisà E, Caravelli D, Triggianese P, Brussino L, Battipaglia G, Bindoli S, Sfriso P, Caroni F, Dragani M, Mallegni F, Pilo F, Firinu D, Curti A, Papayannidis C, Olivieri A, Kordasti S, Albano F, Pane F, Musto P, Bocchia M, Lugli E, Breccia M, Frigeni M, Dagna L, Greco R, Franceschini F, Campochiaro C, Cantarini L, Voso MT
Am J Hematol 2024 Feb;99(2):254-262. Epub 2023 Dec 18 doi: 10.1002/ajh.27169. PMID: 38108611
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC
Orphanet J Rare Dis 2022 Oct 17;17(1):379. doi: 10.1186/s13023-022-02538-9. PMID: 36253820Free PMC Article
Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS.
van der Made CI, Potjewijd J, Hoogstins A, Willems HPJ, Kwakernaak AJ, de Sevaux RGL, van Daele PLA, Simons A, Heijstek M, Beck DB, Netea MG, van Paassen P, Elizabeth Hak A, van der Veken LT, van Gijn ME, Hoischen A, van de Veerdonk FL, Leavis HL, Rutgers A
J Allergy Clin Immunol 2022 Jan;149(1):432-439.e4. Epub 2021 May 25 doi: 10.1016/j.jaci.2021.05.014. PMID: 34048852
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1.
Obiorah IE, Patel BA, Groarke EM, Wang W, Trick M, Ombrello AK, Ferrada MA, Wu Z, Gutierrez-Rodrigues F, Lotter J, Wilson L, Hoffmann P, Cardona DO, Patel N, Dulau-Florea A, Kastner DL, Grayson PC, Beck DB, Young NS, Calvo KR
Blood Adv 2021 Aug 24;5(16):3203-3215. doi: 10.1182/bloodadvances.2021004976. PMID: 34427584Free PMC Article

Clinical prediction guides

Vacuoles in bone marrow progenitors: VEXAS syndrome and beyond.
Lacombe V, Hadjadj J, Georgin-Lavialle S, Lavigne C, Geneviève F, Kosmider O
Lancet Haematol 2024 Feb;11(2):e160-e167. doi: 10.1016/S2352-3026(23)00375-7. PMID: 38302223
Diagnostic capabilities, clinical features, and longitudinal UBA1 clonal dynamics of a nationwide VEXAS cohort.
Gurnari C, Pascale MR, Vitale A, Diral E, Tomelleri A, Galossi E, Falconi G, Bruno A, Crisafulli F, Frassi M, Cattaneo C, Bertoli D, Bernardi M, Condorelli A, Morsia E, Poloni A, Crisà E, Caravelli D, Triggianese P, Brussino L, Battipaglia G, Bindoli S, Sfriso P, Caroni F, Dragani M, Mallegni F, Pilo F, Firinu D, Curti A, Papayannidis C, Olivieri A, Kordasti S, Albano F, Pane F, Musto P, Bocchia M, Lugli E, Breccia M, Frigeni M, Dagna L, Greco R, Franceschini F, Campochiaro C, Cantarini L, Voso MT
Am J Hematol 2024 Feb;99(2):254-262. Epub 2023 Dec 18 doi: 10.1002/ajh.27169. PMID: 38108611
Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome.
Kunimoto H, Miura A, Maeda A, Tsuchida N, Uchiyama Y, Kunishita Y, Nakajima Y, Takase-Minegishi K, Yoshimi R, Miyazaki T, Hagihara M, Yamazaki E, Kirino Y, Matsumoto N, Nakajima H
Int J Hematol 2023 Oct;118(4):494-502. Epub 2023 Apr 17 doi: 10.1007/s12185-023-03598-8. PMID: 37062784
Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome.
Nishimura A, Hirabayashi S, Hasegawa D, Yoshida K, Shiraishi Y, Ashiarai M, Hosoya Y, Fujiwara T, Harigae H, Miyano S, Ogawa S, Manabe A
Pediatr Blood Cancer 2021 Feb;68(2):e28799. Epub 2020 Nov 16 doi: 10.1002/pbc.28799. PMID: 33200495
Interstitial 9q deletion in T-lymphoid/myeloid biphenotypic leukaemia.
Akashi K, Shibuya T, Harada M, Oogami A, Teshima T, Takamatsu Y, Kikuchi M, Niho Y
Br J Haematol 1992 Feb;80(2):172-7. doi: 10.1111/j.1365-2141.1992.tb08896.x. PMID: 1550772

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