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. 2019 May;137(5):851-854.
doi: 10.1007/s00401-019-01990-5. Epub 2019 Mar 14.

Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma

Julieann C Lee  1 , Tali Mazor  2   3 , Richard Lao  4 , Eunice Wan  4 , Alpha B Diallo  5 , Nicholas S Hill  5 , Naina Thangaraj  5 , Katherine Wendelsdorf  5 , David Samuel  6 , Cassie N Kline  7 , Anuradha Banerjee  7 , Kurtis Auguste  2 , Corey Raffel  2 , Nalin Gupta  2 , Mitchel Berger  2 , David R Raleigh  2   8 , Anny Shai  2 , Joanna J Phillips  1   2 , Andrew W Bollen  1 , Tarik Tihan  1 , Arie Perry  1   2 , Joseph Costello  2 , David A Solomon  9
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Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma

Julieann C Lee et al. Acta Neuropathol. 2019 May.
No abstract available

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Conflict of interest statement

Conflict of interest

The authors declare that they have no competing interests related to this study.

Figures

Fig. 1
Fig. 1
Pineoblastoma is characterized by mutually exclusive DICER1 mutation and DROSHA homozygous deletion and absence of KBTBD4 mutation, whereas pineal parenchymal tumor of intermediate differentiation (PPTID) is characterized by a recurrent KBTBD4 small in-frame insertion and absence of DICER1 mutation or DROSHA deletion. a, Clinicopathologic features and identified genetic alterations in the eight pineal parenchymal tumors. b, Diagram of human KBTBD4 protein with the location of the recurrent p.R313delinsPRR small in-frame insertion identified in the three PPTID. UniProt Q9NVX7, RefSeq NM_018095. c, Pre-operative magnetic resonance imaging and tumor histology for patient PPT #1 with pineoblastoma harboring DICER1 mutation. d, Pre-operative magnetic resonance imaging and tumor histology for patient PPT #3 with pineoblastoma harboring DROSHA homozygous deletion. e, Pre-operative magnetic resonance imaging and tumor histology for patient PPT #5 with PPTID harboring KBTBD4 small in-frame insertion.
See this image and copyright information in PMC

References

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