Illness[Pleuro]pulmonary blastoma

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion pleuropulmonary Blastoma

PS1342

Number of genes

1 Accredited laboratory test

Examined sequence length

5,8 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
DICER1	5769	606241	NM_177438.3	AD, Sus

Informations about the disease

Clinical Comment

DICER1-related familial tumor susceptibility syndrome with increased risk PPB; ovarian sex cord-stromal tumors (Sertoli-Leydig cell tumor, juvenile granulosa cell tumor, gynandroblastoma); cystic nephroma; thyroid gland neoplasia (multinodular goiter, adenomas, differentiated thyroid cancer)

Synonyms

Alias: DICER1 syndrome
Alias: DICER1-Pleuropulmonary blastoma familial tumor predisposition syndrome
Alias: PPB familial tumor and dysplasia syndrome
Alias: Pleuro-pulmonary blastoma familial tumor susceptibility syndrome
Alias: Pleuropulmonary blastoma; PPB
Allelic: GLOW syndrome, somatic mosaic (DICER1)A
Allelic: Goiter, multinodular 1, with/-out Sertoli-Leydig cell tumors (DICER1)
Allelic: Rhabdomyosarcoma, embryonal, 2 (DICER1)
Pleuropulmonary blastoma (DICER1)

Heredity, heredity patterns etc.

OMIM-Ps

606241

ICD10 Code

Bioinformatics and clinical interpretation

No text defined