Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A potential role of pericentrin in hematopoiesis. Issue 2 (17th September 2013)

• Record Type: Journal Article
• Authors: Unal, Sule; Alanay, Yasemin; Cetin, Mualla; Boduroglu, Koray; Utine, Eda; Cormier‐Daire, Valerie; Huber, Celine; Ozsurekci, Yasemin; Kilic, Esra; Simsek Kiper, Ozlem Pelin; Gumruk, Fatma
• Is Part Of: Pediatric blood & cancer. Volume 61:Issue 2(2014:Feb.)
• Page Start: 302
• Page End: 305
• Publication Date: 2013-09-17
• Subjects: Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.24783
• Languages: English
• ISSNs: 1545-5009

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="pbc24783-sec-0001" sec-type="section"> <title>Background</title> <p>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.</p> </sec> <sec id="pbc24783-sec-0002" sec-type="section"> <title>Materials and Methods</title> <p>The study included eight patients with MOPD II that were analyzed via molecular testing, and physical and laboratory examinations.</p> </sec> <sec id="pbc24783-sec-0003" sec-type="section"> <title>Results</title> <p>Molecular testing showed that seven of the eight patients had pericentrin (<italic>PCNT</italic>) 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.</p> </sec> <sec id="pbc24783-sec-0004" sec-type="section"> <title>Conclusions</title> <p>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 <italic>PCNT</italic> gene in hematopoietic cell proliferation and differentiation. Pediatr Blood Cancer 2014;61:302–305. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>