ESPN 51th Annual Meeting

ESPN 2018


 
DICER1 pleuropulmonary blastoma familial tumor predisposition syndrome: a case report
EDA DIDEM KURT-SUKUR 1 SALIH TAŞKIN 2 SUAT FITOZ 3 NURDAN TAÇYILDIZ 4 MESIHA EKIM 1

1- ANKARA UNIVERSITY SCHOOL OF MEDICINE DEPARTMENT OF PEDIATRIC NEPHROLOGY
2- ANKARA UNIVERSITY SCHOOL OF MEDICINE DEPARTMENT OF OBSTETRICS&GYNECOLOGY
3- ANKARA UNIVERSITY SCHOOL OF MEDICINE DEPARTMENT OF RADIOLOGY
4- ANKARA UNIVERSITY SCHOOL OF MEDICINE DEPARTMENT OF PEDIATRIC ONCOLOGY
 
Introduction:

DICER1 (MIM# 606241) is an endoribonuclease crucial for processing pre-microRNA into active microRNA which are modulators of mRNA expression. Germ-line inactivating DICER1 mutations cause a familial tumour susceptibility syndrome which may involve the pulmonary and urogenital systems.

Material and methods:

A 13.5 year-old girl with a history of cystic nephroma and pulmonary sequestration came to medical attention with dysfunctional uterine bleeding. At the age of 15 months she was referred to our clinic with abdominal distention and hypertension. Her parents were second degree cousins and family history was unremarkable for renal diseases. During  investigations a multicystic mass in the left kidney was found. An incidental cystic mass was detected in her right lung during radiological examinations. Left nephrectomy was performed and pathological examination of the mass was compatible with cystic nephroma (CN). In the 17th month of follow-up the patient had pneumonia around the cystic lesion  and excisional biopsy revealed an intralobar sequestration. Genetic screening was performed. A mutation in the DICER1 gene (c.1966C>T) was found which was predicted to cause a premature stop codon resulting in p.Arg656* at the protein level. The patient was followed-up for 12 years. At the age of 13.5 she started suffering from dysfunctional uterine bleeding. A left ovarian solid/cystic mass 14 x8 cm in size was detected on pelvic ultrasound. The tumour markers were within normal ranges. Left salpingoopherectomy was performed and pathology of the ovarian mass was compatible with Sertoli-Leydig cell tumour (SLCT). During follow-up for one year after operation patient didn’t have any complaints.

Results:

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Conclusions:

Rare childhood tumors like pulmonary blastoma, CN, ovarian sex-cord stromal tumors like SLCT, Wilms tumor have been reported with DICER1 mutations. Because of these associations, for patients with one typical DICER1 condition genetic analysis should be offered. Early diagnosis is important and being suspicious for malignancies would be life saving.