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Jirapath Wiwitkeyoonwong
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P35 - Pathology - Genomics (ID 105)
- Event: WCLC 2020
- Type: Posters
- Track: Pathology, Molecular Pathology and Diagnostic Biomarkers
- Presentations: 1
- Moderators:
- Coordinates: 1/28/2021, 00:00 - 00:00, ePoster Hall
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P35.18 - Genomic Alteration Profiles in Rare Types of Lung Cancer (ID 1471)
00:00 - 00:00 | Presenting Author(s): Jirapath Wiwitkeyoonwong
- Abstract
Introduction
The uncommon type of lung cancer is known to have a poor prognosis because of diagnostic difficulty and lack of efficient treatment. Next generation sequencing (NGS) is extensively used for molecular diagnosis and helps guiding cancer treatment in precision medicine era. Our study reported a case series of rare types of lung cancer and the result of NGS profile.
Methods
We enrolled patients with rare types of lung cancer in Ramathibodi hospital from year of 2014 to 2019 and performed genomic testing by FoundationOne CDx NGS platform from tissue specimens.
Results
There were four cases of pleomorphic carcinoma, two cases of hepatoid adenocarcinoma, one case of pulmonary blastoma and pulmonary enteric carcinoma. The NGS results were shown in Table 1.
Case number
Gender/age
Diagnosis
Smoking
Stage
Biomarker finding
Gene Alterations
Overall survival
(months)
Microsatellite status
TMB (mut/mb)
1
M/58
pleomorphic carcinoma
n/a
IV
Stable
Low(4 mut/mb)
KRAS,CSF1R,DNMT3A,
0.6
2
M/82
pleomorphic carcinoma
YES
IIA
Stable
Intermediate
(11 mut/mb)
TP53,MET,NF1,INPP4B
7.3
3
M/77
pleomorphic carcinoma
YES
IIIA
Stable
Intermediate
(13 mut/mb)
TP53,KRAS,CSF1R ,SMO
3.5
4
M/56
pleomorphic carcinoma
YES
IA3
Cannot determined
Intermediate
(13 mut/mb)
TP53,FBXW7,RB
31.2
5
M/52
hepatoid adenocarcinoma
NO
IIIA
Stable
Intermediate
(6 mut/mb)
EGFRdel19,MCL1,NOTCH2
22.8
6
M/58
hepatoid adenocarcinoma
YES
IV
Stable
Intermediate
(9 mut/mb)
STK11
5.2
7
M/39
pulmonary blastoma
YES
IIB
Stable
Low(3 mut/mb)
CTNNB1
32.3
8
F/68
Pulmonary enteric carcinoma
NO
IIIB
Stable
Low(3 mut/mb)
KRAS,TP53,APC,MSH6
16.4
The NGS results from pleomorphic carcinoma of lung showed TP53 mutation (75%) and KRAS mutation (50%). Thus TP53 is probably a common gene alteration in pleomorphic carcinoma. A patient with hepatoid adenocarcinoma (Case number 5) demonstrated EGFR exon 19 deletions and MCL amplification, which had been reported in both lung adenocarcinoma and hepatocellular carcinoma in the previous literature. In addition, another type of rare lung cancer in one of our patient, pulmonary blastoma, the NGS reported CTNNB1 mutation which was also mentioned in the previous report that CTNNB1 mutation was one of the common mutations in pulmonary blastoma. The patient number 8 was very interesting. She had pulmonary enteric adenocarcinoma which tissue IHC showed positive CK20, CDX2, and negative CK7 and TTF1. She also had KRAS, APC, and MSH6 mutation. The PET/CT showed irregular border mass at RUL consistent with primary lung cancer, but all histology and molecular profiles trend to support colorectal cancer. We had started to treat her with lung cancer chemotherapy regimen without any responses then we switched to 5-FU-based regimen with partial response until now.
Furthermore, we also reported predictive biomarkers for immune checkpoint inhibitor which were MSI and tumor mutation burden (TMB). All cases had stable MSI except case number 4 whom had insufficient tissue. Most of patients had low and intermediate TMB in this study.
Conclusion
We don’t know much about molecular profile data in rare types of lung cancer. However, NGS testing may help identifying potential target genes and provide new therapeutic options for this group of patients. The pooled-data from all regions of the world will be very useful for gathering all information to develop the novel treatment.
