Tags

Type your tag names separated by a space and hit enter

Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis.
Pediatr Blood Cancer. 2014 Feb; 61(2):302-5.PB

Abstract

BACKGROUND

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare primordial dwarfism that is similar to Seckel syndrome. Seckel syndrome is known to be associated with various hematological abnormalities; however, hematological findings in MOPD II patients have not been previously reported. The present study aimed to describe the hematological findings in a series of eight patients with MOPD II from a single center.

MATERIALS AND METHODS

The study included eight patients with MOPD II that were analyzed via molecular testing, and physical and laboratory examinations.

RESULTS

Molecular testing showed that seven of the eight patients had pericentrin (PCNT) gene mutations. Hematological evaluation showed that 7 (87.5%) patients had thrombocytosis, 6 (75%) had leukocytosis, 5 (62.5%) had both leukocytosis and thrombocytosis, and 2 (25%) had anemia.

CONCLUSIONS

We report leukocytosis and thrombocytosis as a common hematologic abnormality in patients with MOPD II. The present findings may improve our understanding of the potential function of the PCNT gene in hematopoietic cell proliferation and differentiation.

Authors+Show Affiliations

Department of Pediatric Hematology, Hacettepe University, Ankara, Turkey.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24106199

Citation

Unal, Sule, et al. "Striking Hematological Abnormalities in Patients With Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II): a Potential Role of Pericentrin in Hematopoiesis." Pediatric Blood & Cancer, vol. 61, no. 2, 2014, pp. 302-5.
Unal S, Alanay Y, Cetin M, et al. Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis. Pediatr Blood Cancer. 2014;61(2):302-5.
Unal, S., Alanay, Y., Cetin, M., Boduroglu, K., Utine, E., Cormier-Daire, V., Huber, C., Ozsurekci, Y., Kilic, E., Simsek Kiper, O. P., & Gumruk, F. (2014). Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis. Pediatric Blood & Cancer, 61(2), 302-5. https://doi.org/10.1002/pbc.24783
Unal S, et al. Striking Hematological Abnormalities in Patients With Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II): a Potential Role of Pericentrin in Hematopoiesis. Pediatr Blood Cancer. 2014;61(2):302-5. PubMed PMID: 24106199.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis. AU - Unal,Sule, AU - Alanay,Yasemin, AU - Cetin,Mualla, AU - Boduroglu,Koray, AU - Utine,Eda, AU - Cormier-Daire,Valerie, AU - Huber,Celine, AU - Ozsurekci,Yasemin, AU - Kilic,Esra, AU - Simsek Kiper,Ozlem Pelin, AU - Gumruk,Fatma, Y1 - 2013/09/17/ PY - 2013/04/24/received PY - 2013/08/27/accepted PY - 2013/10/10/entrez PY - 2013/10/10/pubmed PY - 2014/2/26/medline KW - MOPD II KW - leukocytosis KW - pericentrin KW - thrombocytosis SP - 302 EP - 5 JF - Pediatric blood & cancer JO - Pediatr Blood Cancer VL - 61 IS - 2 N2 - BACKGROUND: Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare primordial dwarfism that is similar to Seckel syndrome. Seckel syndrome is known to be associated with various hematological abnormalities; however, hematological findings in MOPD II patients have not been previously reported. The present study aimed to describe the hematological findings in a series of eight patients with MOPD II from a single center. MATERIALS AND METHODS: The study included eight patients with MOPD II that were analyzed via molecular testing, and physical and laboratory examinations. RESULTS: Molecular testing showed that seven of the eight patients had pericentrin (PCNT) gene mutations. Hematological evaluation showed that 7 (87.5%) patients had thrombocytosis, 6 (75%) had leukocytosis, 5 (62.5%) had both leukocytosis and thrombocytosis, and 2 (25%) had anemia. CONCLUSIONS: We report leukocytosis and thrombocytosis as a common hematologic abnormality in patients with MOPD II. The present findings may improve our understanding of the potential function of the PCNT gene in hematopoietic cell proliferation and differentiation. SN - 1545-5017 UR - https://www.unboundmedicine.com/medline/citation/24106199/Striking_hematological_abnormalities_in_patients_with_microcephalic_osteodysplastic_primordial_dwarfism_type_II__MOPD_II_:_a_potential_role_of_pericentrin_in_hematopoiesis_ L2 - https://doi.org/10.1002/pbc.24783 DB - PRIME DP - Unbound Medicine ER -