YWHAE

Pathology

 17p13.3 deletion syndrome or Miller-Dieker syndrome

• The 17p13.3 deletion syndrome (or Miller-Dieker syndrome, MDS, MIM.247200) is characterized by lissencephaly, mental retardation and facial dysmorphism.
  *The phenotype is attributed to haploinsufficiency of two genes present in the minimal critical region of MDS: PAFAH1B1 (formerly referred to as LIS1) ; YWHAE.
  Whereas isolated PAFAH1B1 deletion causes lissencephaly, YWHAE is a candidate for the dysmorphic phenotype associated with MDS.
• Phenotype: isolated lissencephaly, Miller-Dieker syndrome, dysmorphic facial features

 YWHAE rearrangement identified by FISH and RT-PCR in endometrial stromal sarcomas (23599159)

• Endometrial stromal sarcomas represent the second most common mesenchymal uterine tumor.
• The 2003 WHO classification distinguishes low-grade and undifferentiated endometrial stromal sarcomas with different prognoses.
• Endometrial stromal sarcomas are a genetically heterogeneous group of sarcomas harboring different cytogenetic anomalies.
• A fusion between the YWHAE and FAM22A/B genes subsequent to a t(10;17) (q22;p13) has been described in endometrial sarcomas with high-grade histology.

References

 YWHAE rearrangement identified by FISH and RT-PCR in endometrial stromal sarcomas: genetic and pathological correlations. Croce S, Hostein I, Ribeiro A, Garbay D, Velasco V, Stoeckle E, Guyon F, Floquet A, Neuville A, Coindre JM, Macgrogan G, Chibon F. Mod Pathol. 2013 Apr 19. doi : 10.1038/modpathol.2013.69 PMID: 23599159

 Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: Four additional patients. Schiff M, Delahaye A, Andrieux J, Sanlaville D, Vincent-Delorme C, Aboura A, Benzacken B, Bouquillon S, Elmaleh-Berges M, Labalme A, Passemard S, Perrin L, Manouvrier-Hanu S, Edery P, Verloes A, Drunat S. Eur J Med Genet. 2010 Jul 1. PMID: 20599530