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STK11 loss drives rapid progression in a breast cancer patient resulting in pulmonary tumor thrombotic microangiopathy.
- Source :
-
Breast cancer (Tokyo, Japan) [Breast Cancer] 2021 May; Vol. 28 (3), pp. 765-771. Date of Electronic Publication: 2021 Jan 02. - Publication Year :
- 2021
-
Abstract
- We experienced a case of breast cancer in which liver metastases spread rapidly and the patient died of pulmonary tumor thrombotic microangiopathy (PTTM). PTTM is a fatal cancer-associated respiratory complication disease. To reveal genetic alterations of the clinical course, we performed next generation sequencing of the serial specimens using the Ion AmpliSeqTM Comprehensive Cancer Panel and RNA sequencing for transcriptomic data, followed by gene set analysis. The analysis revealed an oncogenic TP53 R213* mutation in all specimens and STK11 loss in tissues sampled after disease progression. Immunohistochemistry with an anti-STK11 antibody confirmed no STK11 expression in the samples after progression. Transcriptome analysis showed a significant downregulation of proteins associated with apoptosis in the specimens with STK11 loss. STK11 loss may have triggered the rapid progression of PTTM from a comprehensive genomic analysis.
- Subjects :
- AMP-Activated Protein Kinase Kinases
Breast Neoplasms diagnosis
Carcinoma, Ductal, Breast diagnosis
Carcinoma, Ductal, Breast pathology
Fatal Outcome
Female
High-Throughput Nucleotide Sequencing
Humans
Liver Neoplasms complications
Liver Neoplasms pathology
Middle Aged
Mutation
Protein Serine-Threonine Kinases
Breast Neoplasms pathology
Carcinoma, Ductal, Breast secondary
Liver Neoplasms secondary
Thrombotic Microangiopathies etiology
Subjects
Details
- Language :
- English
- ISSN :
- 1880-4233
- Volume :
- 28
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Breast cancer (Tokyo, Japan)
- Publication Type :
- Academic Journal
- Accession number :
- 33389615
- Full Text :
- https://doi.org/10.1007/s12282-020-01200-1