ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : 12 Issue : 1 Year : 2024
Forms

Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
An Unusual Presentation of Carney Complex [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2020; 12(1): 117-121 | DOI: 10.4274/jcrpe.galenos.2019.2019.0043

An Unusual Presentation of Carney Complex

Aydilek Dağdeviren Çakır1, Hande Turan1, Tiraje Celkan2, Nil Çomunoğlu3, Oya Ercan1, Olcay Evliyaoğlu1
1İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
2İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Pediatric Hematology-Oncology, İstanbul, Turkey
3İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, Department of Pathology, İstanbul, Turkey

Carney complex (CNC) is a multiple neoplasia syndrome, characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas and multiple endocrine and non-endocrine tumors. Most of the cases have an inactivating mutation in the PRKAR1A gene. Osteochondromyxoma (OMX) is an extremely rare myxomatous tumor of bone, affecting 1% of CNC patients. Large cell calcifying Sertoli cell tumor (LCCSCT) is a testicular tumor affecting more than 75% of males with CNC. Here, we report an atypical case of CNC without typical pigmented skin lesions, presenting with a bone based tumor as the first manifestation. Initial presentation was for a recurrent, locally invasive intranasal tumor without definite diagnosis. Further clinical developments during follow up, central precocious puberty and testicular tumor with calcification, led to the diagnosis of LCCSCT, a CNC-related tumor. Histopathologic examination of the intranasal tumor was re-evaluated with this knowledge and OMX was diagnosed. Coexistence of OMX and LCCSCT suggested CNC. Genetic analysis revealed a heterozygous non-sense p.Trp 224* (c.672G>A) in the PRKAR1A gene. In our case, the diagnosis of OMX was delayed, because it is extremely rare and little is known about this tumor. Thus the aim of this report was to alert other clinicians to consider CNC if OMX is diagnosed.

Keywords: Carney complex, osteochondromyxoma, large cell calcifying Sertoli cell tumor, central puberty precocious

Aydilek Dağdeviren Çakır, Hande Turan, Tiraje Celkan, Nil Çomunoğlu, Oya Ercan, Olcay Evliyaoğlu. An Unusual Presentation of Carney Complex. J Clin Res Pediatr Endocrinol. 2020; 12(1): 117-121
Manuscript Language: English
LookUs & Online Makale