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Pelger-Huet Anomaly Clinical Presentation

  • Author: Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP; Chief Editor: Hassan M Yaish, MD  more...
 
Updated: May 03, 2016
 

History

Heterozygotes are healthy with no excessive predisposition to infection. In homozygous individuals, Pelger-Huët anomaly (PHA) may be associated with skeletal anomalies[12]

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Physical

Unique physical findings are not observed in heterozygous individuals with PHA. The proportion of neutrophils with abnormal morphology is usually 50% or more. This distinguishes it from pseudo–Pelger-Huët anomaly, which may be seen in association with malignancies and other disease states, for which the proportion of abnormal appearing cells is usually around 5%.

Homozygous individuals are extremely rare and inconsistently have skeletal anomalies such as postaxial polydactyly, short metacarpals, short upper limbs, short stature, or hyperkyphosis.[10]

The practical importance of identifying PHA lies in distinguishing this defect from a bandemia with a left-shifted peripheral blood smear that can be observed in association with infection. In addition, acquired or pseudo–Pelger-Huët anomaly often develops in the course of acute or chronic myelogenous leukemia and in myelodysplastic syndromes.

In pseudo–Pelger-Huët anomaly, the percentage of abnormal neutrophils is usually less than 20% and often around 5%. Coarser clumping of nuclear matter may be seen. Pseudo–Pelger-Huët cells may be seen in large numbers following paclitaxel or docetaxel therapy, but this is usually transient and resolves after 10-14 days of chemotherapy administration. The morphologic changes have also been described in myxedema associated with panhypopituitarism, vitamin B-12 and folate deficiency, multiple myeloma, enteroviral infections, malaria, muscular dystrophy, leukemoid reactions secondary to metastases to the bone marrow, and drug sensitivity.

Because PHA is autosomal dominant, when PHA is encountered on a blood smear, family studies can often relieve anxiety about pseudo–Pelger-Huët anomaly and avoid unnecessary investigations.

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Causes

Pelger-Huët anomaly is secondary to a mutation of the LBR gene on band 1q42.[13] It is inherited in a highly penetrant, dominant pattern.

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Contributor Information and Disclosures
Author

Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP Professor of Pediatrics, Albany Medical College; Chief, Division of Pediatric Hematology-Oncology, John and Anna Landis Endowed Chair for Pediatric Hematology-Oncology, Medical Director, Melodies Center for Childhood Cancer and Blood Disorders, Albany Medical Center

Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP is a member of the following medical societies: American Academy of Pediatrics, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Children's Oncology Group, International Society of Pediatric Oncology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

James L Harper, MD Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Associate Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center

James L Harper, MD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology, American Federation for Clinical Research, Council on Medical Student Education in Pediatrics, Hemophilia and Thrombosis Research Society, American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology

Disclosure: Nothing to disclose.

Chief Editor

Hassan M Yaish, MD Medical Director, Intermountain Hemophilia and Thrombophilia Treatment Center; Professor of Pediatrics, University of Utah School of Medicine; Director of Hematology, Pediatric Hematologist/Oncologist, Department of Pediatrics, Primary Children's Medical Center

Hassan M Yaish, MD is a member of the following medical societies: American Academy of Pediatrics, New York Academy of Sciences, American Medical Association, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Michigan State Medical Society

Disclosure: Nothing to disclose.

Additional Contributors

Sharada A Sarnaik, MBBS Professor of Pediatrics, Wayne State University School of Medicine; Director, Sickle Cell Center, Associate Hematologist/Oncologist, Children's Hospital of Michigan

Sharada A Sarnaik, MBBS is a member of the following medical societies: American Society of Hematology, American Society of Pediatric Hematology/Oncology, New York Academy of Sciences, Society for Pediatric Research, Children's Oncology Group, American Academy of Pediatrics, Midwest Society for Pediatric Research

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author Frank E Shafer, MD, to the original writing and development of this topic.

References
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  2. Cunningham JM, Patnaik MM, Hammerschmidt DE, Vercellotti GM. Historical perspective and clinical implications of the Pelger-Hüet cell. Am J Hematol. 2009 Feb. 84(2):116-9. [Medline].

  3. Kuriyama K, Tomonaga M, Matsuo T, Ginnai I, Ichimaru M. Diagnostic significance of detecting pseudo-Pelger-Huët anomalies and micro-megakaryocytes in myelodysplastic syndrome. Br J Haematol. 1986 Aug. 63(4):665-9. [Medline].

  4. Hoffmann K, Dreger CK, Olins AL, et al. Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). Nat Genet. 2002 Aug. 31(4):410-4. [Medline].

  5. Hoffmann K, Sperling K, Olins AL, Olins DE. The granulocyte nucleus and lamin B receptor: avoiding the ovoid. Chromosoma. 2007 Jun. 116(3):227-35. [Medline].

  6. Best S, Salvati F, Kallo J, et al. Lamin B-receptor mutations in Pelger-Huët anomaly. Br J Haematol. 2003 Nov. 123(3):542-4. [Medline].

  7. Ye Q, Callebaut I, Pezhman A, Courvalin JC, Worman HJ. Domain-specific interactions of human HP1-type chromodomain proteins and inner nuclear membrane protein LBR. J Biol Chem. 1997 Jun 6. 272(23):14983-9. [Medline].

  8. Cohen TV, Klarmann KD, Sakchaisri K, Cooper JP, Kuhns D, Anver M, et al. The lamin B receptor under transcriptional control of C/EBPepsilon is required for morphological but not functional maturation of neutrophils. Hum Mol Genet. 2008 Oct 1. 17(19):2921-33. [Medline].

  9. Matsumoto T, Harada Y, Yamaguchi K, et al. Cytogenetic and functional studies of leukocytes with Pelger-Huët anomaly. Acta Haematol. 1984. 72(4):264-73. [Medline].

  10. Erice JG, Perez JM, Pericas FS. Homozygous form of the Pelger-Huët anomaly. Haematologica. 1999 Aug. 84(8):748. [Medline].

  11. Oosterwijk JC, Mansour S, van Noort G, et al. Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes. J Med Genet. 2003 Dec. 40(12):937-41. [Medline].

  12. Borovik L, Modaff P, Waterham HR, Krentz AD, Pauli RM. Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. Am J Med Genet A. 2013 Aug. 161A(8):2066-73. [Medline].

  13. Kalfa TA, Zimmerman SA, Goodman BK, et al. Pelger-Huët anomaly in a child with 1q42.3-44 deletion. Pediatr Blood Cancer. 2006 May 1. 46(5):645-8. [Medline].

  14. Christensen RD, Yaish HM. A neonate with the Pelger-Huët anomaly, cleft lip and palate, and agenesis of the corpus callosum, with a chromosomal microdeletion involving 1q41 to 1q42.12. J Perinatol. 2012 Mar. 32 (3):238-40. [Medline].

  15. Sun M, Yang S, Jiang J, Wang Q. Detection of Pelger-Huet anomaly based on augmented fast marching method and speeded up robust features. Biomed Mater Eng. 2015. 26 Suppl 1:S1241-8. [Medline].

 
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Neutrophils in this blood smear (original magnification X1500) have the 2 characteristics of the Pelger-Huët anomaly: the pince nezappearance of the bilobate nuclei and excessively coarse clumping of chromatin. Used with permission from Little, Brown.
 
 
 
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