In:
Pathobiology, S. Karger AG, Vol. 88, No. 3 ( 2021), p. 251-260
Abstract:
〈 b 〉 〈 i 〉 Introduction: 〈 /i 〉 〈 /b 〉 Pleuropulmonary blastoma (PPB) is a rare sarcomatous malignancy involving the lung and pleura which occurs in early childhood. Cystic PPB in the early stage can be misdiagnosed as other cystic diseases. Early detection of this entity is important for appropriate treatment and prevention of disease progression. Hotspot mutations in the ribonuclease IIIb (RNase IIIb) domain of 〈 i 〉 DICER1 〈 /i 〉 have been reported to have a crucial role as genetic factors of PPB and 〈 i 〉 DICER1 〈 /i 〉 familial syndrome. We reviewed the clinicopathologic findings of PPB and the status of 〈 i 〉 DICER1 〈 /i 〉 hotspot mutation and patients’ clinical course. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 We retrospectively reviewed all patients with histologically confirmed PPB at Asan Medical Center between 2000 and 2017. Ten cases were identified in the database, and their clinicopathologic parameters were evaluated. PPB was classified into the following 3 pathologic subtypes: type I (purely cystic), type II (mixed cystic and solid), and type III (entirely solid). The status of 〈 i 〉 DICER1 〈 /i 〉 mutation in 2 hotspot regions of the RNase IIIb domain was evaluated by Sanger sequencing. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 The most frequent PPB type was II (6 cases), followed by I and III (2 cases each). The age at diagnosis ranged from 16 months to 15 years. All patients underwent surgery, and all patients received adjuvant or neoadjuvant chemotherapy. Four of 7 patients had missense mutations in the RNase IIIb hotspot; the base and predicted corresponding amino acid changes were c.5113 G & #x3e;A (p.E1705K), c.5407 G & #x3e;A (p.E1803K), c.5425 G & #x3e;A (p.G1809R), and c.5428 G & #x3e;T (p.D1810Y). There was no particular association between the presence of the hotspot mutation and histologic type. Nine patients survived with no evidence of disease for a median interval of 93 (range, 13–199) months. Only 1 patient diagnosed with type III PPB at the age of 18 years had recurrence after 20.8 months and eventually died 66 months after the initial diagnosis. 〈 b 〉 〈 i 〉 Conclusions: 〈 /i 〉 〈 /b 〉 Late detection of solid PPB is associated with poor prognosis. Considering the rarity of PPB disease and the importance of 〈 i 〉 DICER1 〈 /i 〉 hotspot mutation in pathogenesis, 〈 i 〉 DICER1 〈 /i 〉 hotspot mutation testing and identification in the early cystic stage can improve patient outcomes.
Type of Medium:
Online Resource
ISSN:
1015-2008
,
1423-0291
Language:
English
Publisher:
S. Karger AG
Publication Date:
2021
detail.hit.zdb_id:
1483541-1
SSG:
12
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