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Pseudo Pelger-Huet Anomaly

MedGen UID:
465712
•Concept ID:
C3179244
•
Finding
Synonyms: Anomaly, Pseudo Pelger-Huet; Anomaly, Pseudo Pelger-Huët; Pelger-Huet Anomaly, Pseudo; Pelger-Huët Anomaly, Pseudo; Pseudo Pelger Huet Anomaly; Pseudo Pelger Huet Nuclear Anomaly; Pseudo Pelger Huët Anomaly; Pseudo Pelger-Huet Nuclear Anomaly; Pseudo Pelger-Huët Anomaly

Definition

GRANULOCYTE morphologic changes similar to the cells in familial Pelger-Huet anomoly. Granulocytes have abnormal bilobular morphology with hypercondensation due to drug therapy or secondary to diseases such as MYELODYSPLASTIC SYNDROMES and ACUTE MYELOID LEUKEMIA. [from MeSH]

Professional guidelines

PubMed

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr JA, McKiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D
Genet Med 2020 Mar;22(3):610-621. Epub 2019 Nov 25 doi: 10.1038/s41436-019-0698-4. PMID: 31761904

Recent clinical studies

Etiology

The Pseudo-Pelger huët Cell as a Retrospective Dosimeter: Analysis of a Radium Dial Painter Cohort.
Goans RE, Toohey RE, Iddins CJ, McComish SL, Tolmachev SY, Dainiak N
Health Phys 2019 Aug;117(2):143-148. doi: 10.1097/HP.0000000000000831. PMID: 29595755
The Pseudo-Pelger HuËt Cell-A New Permanent Radiation Biomarker.
Goans RE, Iddins CJ, Ossetrova NI, Ney PH, Dainiak N
Health Phys 2017 Mar;112(3):252-257. doi: 10.1097/HP.0000000000000618. PMID: 28121725
Transient Deformation of Neutrophils in Kawasaki Disease.
Koike Y, Yanagisawa R, Ogiso Y, Cho Y, Minami K, Takeuchi K, Sakashita K, Higuchi T
J Pediatr 2016 Jun;173:238-241.e1. Epub 2016 Mar 30 doi: 10.1016/j.jpeds.2016.02.065. PMID: 27039225
Appearance of pseudo-Pelger Huet anomaly after accidental exposure to ionizing radiation in vivo.
Goans RE, Iddins CJ, Christensen D, Wiley A, Dainiak N
Health Phys 2015 Mar;108(3):303-7. doi: 10.1097/HP.0000000000000183. PMID: 25627941
Clonality investigation of morphologically dysplastic hematopoietic cells in myelodysplastic syndrome marrows.
Li X, Wu L, Ying S, Chang C, Pu Q
Int J Hematol 2008 Mar;87(2):176-183. Epub 2008 Feb 7 doi: 10.1007/s12185-008-0038-y. PMID: 18256784

Diagnosis

The Pseudo-Pelger huët Cell as a Retrospective Dosimeter: Analysis of a Radium Dial Painter Cohort.
Goans RE, Toohey RE, Iddins CJ, McComish SL, Tolmachev SY, Dainiak N
Health Phys 2019 Aug;117(2):143-148. doi: 10.1097/HP.0000000000000831. PMID: 29595755
The Pseudo-Pelger HuËt Cell-A New Permanent Radiation Biomarker.
Goans RE, Iddins CJ, Ossetrova NI, Ney PH, Dainiak N
Health Phys 2017 Mar;112(3):252-257. doi: 10.1097/HP.0000000000000618. PMID: 28121725
Transient Deformation of Neutrophils in Kawasaki Disease.
Koike Y, Yanagisawa R, Ogiso Y, Cho Y, Minami K, Takeuchi K, Sakashita K, Higuchi T
J Pediatr 2016 Jun;173:238-241.e1. Epub 2016 Mar 30 doi: 10.1016/j.jpeds.2016.02.065. PMID: 27039225
Detection of Perlger-Huet anomaly based on augmented fast marching method and speeded up robust features.
Sun M, Yang S, Jiang J, Wang Q
Biomed Mater Eng 2015;26 Suppl 1:S1241-8. doi: 10.3233/BME-151421. PMID: 26405883
Clonality investigation of morphologically dysplastic hematopoietic cells in myelodysplastic syndrome marrows.
Li X, Wu L, Ying S, Chang C, Pu Q
Int J Hematol 2008 Mar;87(2):176-183. Epub 2008 Feb 7 doi: 10.1007/s12185-008-0038-y. PMID: 18256784

Therapy

Pseudo Pelger-Huët anomalies as potential biomarkers for acute exposure radiation dose in rhesus macaques (Macaca mulatta).
Hayes JM, Olson JD, Chino Y, Bourland JD, Cline JM, Johnson TE
Int J Radiat Biol 2022;98(5):913-923. Epub 2021 Nov 11 doi: 10.1080/09553002.2021.1998708. PMID: 34699313Free PMC Article
The Pseudo-Pelger HuËt Cell-A New Permanent Radiation Biomarker.
Goans RE, Iddins CJ, Ossetrova NI, Ney PH, Dainiak N
Health Phys 2017 Mar;112(3):252-257. doi: 10.1097/HP.0000000000000618. PMID: 28121725
Transient Deformation of Neutrophils in Kawasaki Disease.
Koike Y, Yanagisawa R, Ogiso Y, Cho Y, Minami K, Takeuchi K, Sakashita K, Higuchi T
J Pediatr 2016 Jun;173:238-241.e1. Epub 2016 Mar 30 doi: 10.1016/j.jpeds.2016.02.065. PMID: 27039225
Imatinib resistance in a novel translocation der(17)t(1;17)(q25;p13) with loss of TP53 but without BCR/ABL kinase domain mutation in chronic myelogenous leukemia.
Yamamoto K, Yakushijin K, Nishikawa S, Minagawa K, Katayama Y, Shimoyama M, Matsui T
Cancer Genet Cytogenet 2008 May;183(1):77-81. doi: 10.1016/j.cancergencyto.2008.01.024. PMID: 18474303
Neutrophilic dermatosis with myelodysplastic syndrome: nuclear segmentation anomalies of neutrophils in the skin lesion and in peripheral blood.
Morioka N, Otsuka F, Nogita T, Igisu K, Urabe A, Ishibashi Y
J Am Acad Dermatol 1990 Aug;23(2 Pt 1):247-9. doi: 10.1016/0190-9622(90)70206-w. PMID: 2212120

Prognosis

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Thomas Q, Motta M, Gautier T, Zaki MS, Ciolfi A, Paccaud J, Girodon F, Boespflug-Tanguy O, Besnard T, Kerkhof J, McConkey H, Masson A, Denommé-Pichon AS, Cogné B, Trochu E, Vignard V, El It F, Rodan LH, Alkhateeb MA, Jamra RA, Duplomb L, Tisserant E, Duffourd Y, Bruel AL, Jackson A, Banka S, McEntagart M, Saggar A, Gleeson JG, Sievert D, Bae H, Lee BH, Kwon K, Seo GH, Lee H, Saeed A, Anjum N, Cheema H, Alawbathani S, Khan I, Pinto-Basto J, Teoh J, Wong J, Sahari UBM, Houlden H, Zhelcheska K, Pannetier M, Awad MA, Lesieur-Sebellin M, Barcia G, Amiel J, Delanne J, Philippe C, Faivre L, Odent S, Bertoli-Avella A, Thauvin C, Sadikovic B, Reversade B, Maroofian R, Govin J, Tartaglia M, Vitobello A
Am J Hum Genet 2022 Oct 6;109(10):1909-1922. Epub 2022 Aug 30 doi: 10.1016/j.ajhg.2022.08.008. PMID: 36044892Free PMC Article
Comparison of hematologic abnormalities between hospitalized coronavirus disease 2019 positive and negative patients with correlation to disease severity and outcome.
Jain S, Meena R, Kumar V, Kaur R, Tiwari U
J Med Virol 2022 Aug;94(8):3757-3767. Epub 2022 May 4 doi: 10.1002/jmv.27793. PMID: 35467029Free PMC Article
Transient Deformation of Neutrophils in Kawasaki Disease.
Koike Y, Yanagisawa R, Ogiso Y, Cho Y, Minami K, Takeuchi K, Sakashita K, Higuchi T
J Pediatr 2016 Jun;173:238-241.e1. Epub 2016 Mar 30 doi: 10.1016/j.jpeds.2016.02.065. PMID: 27039225
The pseudo-Pelger-Huët anomaly in pyoderma gangrenosum associated with myelodysplastic syndrome.
Chiang M, Fleming M
Am J Dermatopathol 2007 Jun;29(3):293-5. doi: 10.1097/DAD.0b013e3180465823. PMID: 17519630
Granulocytes with segmented nucleus retain normal chromosomes 17 in Philadelphia chromosome-positive chronic myeloid leukemia with i(17q) and pseudo-Pelger anomaly. A case report studied with fluorescence in situ hybridization.
Fugazza G, Bruzzone R, Puppo L, Sessarego M
Cancer Genet Cytogenet 1996 Sep;90(2):166-70. doi: 10.1016/s0165-4608(96)00088-x. PMID: 8830728

Clinical prediction guides

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Thomas Q, Motta M, Gautier T, Zaki MS, Ciolfi A, Paccaud J, Girodon F, Boespflug-Tanguy O, Besnard T, Kerkhof J, McConkey H, Masson A, Denommé-Pichon AS, Cogné B, Trochu E, Vignard V, El It F, Rodan LH, Alkhateeb MA, Jamra RA, Duplomb L, Tisserant E, Duffourd Y, Bruel AL, Jackson A, Banka S, McEntagart M, Saggar A, Gleeson JG, Sievert D, Bae H, Lee BH, Kwon K, Seo GH, Lee H, Saeed A, Anjum N, Cheema H, Alawbathani S, Khan I, Pinto-Basto J, Teoh J, Wong J, Sahari UBM, Houlden H, Zhelcheska K, Pannetier M, Awad MA, Lesieur-Sebellin M, Barcia G, Amiel J, Delanne J, Philippe C, Faivre L, Odent S, Bertoli-Avella A, Thauvin C, Sadikovic B, Reversade B, Maroofian R, Govin J, Tartaglia M, Vitobello A
Am J Hum Genet 2022 Oct 6;109(10):1909-1922. Epub 2022 Aug 30 doi: 10.1016/j.ajhg.2022.08.008. PMID: 36044892Free PMC Article
Transient Deformation of Neutrophils in Kawasaki Disease.
Koike Y, Yanagisawa R, Ogiso Y, Cho Y, Minami K, Takeuchi K, Sakashita K, Higuchi T
J Pediatr 2016 Jun;173:238-241.e1. Epub 2016 Mar 30 doi: 10.1016/j.jpeds.2016.02.065. PMID: 27039225
Pseudo-Pelger-Huët anomaly and granulocytic dysplasia associated with human granulocytic anaplasmosis.
Lee S, Khankhanian P, Salama C, Brown M, Lieber J
Int J Hematol 2015 Jul;102(1):129-33. Epub 2015 Mar 7 doi: 10.1007/s12185-015-1769-1. PMID: 25749661
Appearance of pseudo-Pelger Huet anomaly after accidental exposure to ionizing radiation in vivo.
Goans RE, Iddins CJ, Christensen D, Wiley A, Dainiak N
Health Phys 2015 Mar;108(3):303-7. doi: 10.1097/HP.0000000000000183. PMID: 25627941
Neutrophil dysplasia characterised by a pseudo-Pelger-Huet anomaly occurring with the use of mycophenolate mofetil and ganciclovir following renal transplantation: a report of five cases.
Kennedy GA, Kay TD, Johnson DW, Hawley CM, Campbell SB, Isbel NM, Marlton P, Cobcroft R, Gill D, Cull G
Pathology 2002 Jun;34(3):263-6. doi: 10.1080/0031302022013136. PMID: 12109788

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