Metagenomic sequencing expedites diagnosis of disseminated BCG in an infant with BRAFV600E mutation
Introduction: Disseminated bacillus Calmette-Guérin (BCG) disease is a rare but serious BCG complication in children. Early diagnosis and timely interventions are essential to improve prognosis. However, its manifestations can closely mimic those of Langerhans cell histiocytosis (LCH), which usuall...
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The Journal of Infection in Developing Countries
2024-01-01
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| Series: | Journal of Infection in Developing Countries |
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| Online Access: | https://jidc.org/index.php/journal/article/view/18628 |
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| author | Que Yang Baojing Wu Wenxia Wang Ni Tan Huarong Huang |
| author_facet | Que Yang Baojing Wu Wenxia Wang Ni Tan Huarong Huang |
| author_sort | Que Yang |
| collection | DOAJ |
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Introduction: Disseminated bacillus Calmette-Guérin (BCG) disease is a rare but serious BCG complication in children. Early diagnosis and timely interventions are essential to improve prognosis. However, its manifestations can closely mimic those of Langerhans cell histiocytosis (LCH), which usually leads to a high rate of misdiagnoses. Herein we report the first case of successful application of biopsy tissue metagenomic next-generation sequencing (mNGS) in the differential diagnosis of disseminated BCG disease and LCH.
Case study: A 5-month-old female infant was transferred to our center for the treatment of paroxysmal cough, intermittent hematochezia and trunk rash. Examination on admission showed moderate anemia, erythropenia, thrombocytopenia and hepatosplenomegaly. The immunohistochemistry of her intestinal biopsy samples showed CD1a (+) and Langerin (+). Genetic testing of both peripheral blood and bone marrow samples suggested BRAFV600E mutation. Hence, she was initially diagnosed with LCH. However, no improvement was observed after a course of systemic chemotherapy. The left axillary lymph node and colonic mucosal biopsy specimens were sent for mNGS which resulted in sequence reads of Mycobacterium bovis-BCG. Triple antimycobacterial therapy was started according to the diagnosis.
Results: The diagnosis of this case was corrected as disseminated BCG disease by mNGS. Currently, she is doing well clinically and continues to follow-up at our outpatient clinic.
Conclusions: This case suggests that mNGS is a valuable tool in the differential diagnosis of disseminated BCG disease and LCH, which can improve the early diagnosis rate of disseminated BCG disease.
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| format | Article |
| id | doaj-art-e7f85ad063604b2b967799d99d5efbac |
| institution | DOAJ |
| issn | 1972-2680 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | The Journal of Infection in Developing Countries |
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| series | Journal of Infection in Developing Countries |
| spelling | doaj-art-e7f85ad063604b2b967799d99d5efbac2025-08-20T02:57:24ZengThe Journal of Infection in Developing CountriesJournal of Infection in Developing Countries1972-26802024-01-01180110.3855/jidc.18628Metagenomic sequencing expedites diagnosis of disseminated BCG in an infant with BRAFV600E mutationQue Yang0Baojing Wu1Wenxia Wang2Ni Tan3Huarong Huang4Children’s Medical Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, ChinaChildren’s Medical Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, ChinaChildren’s Medical Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, ChinaCellular & Molecular Diagnostics Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, ChinaChildren’s Medical Center, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China Introduction: Disseminated bacillus Calmette-Guérin (BCG) disease is a rare but serious BCG complication in children. Early diagnosis and timely interventions are essential to improve prognosis. However, its manifestations can closely mimic those of Langerhans cell histiocytosis (LCH), which usually leads to a high rate of misdiagnoses. Herein we report the first case of successful application of biopsy tissue metagenomic next-generation sequencing (mNGS) in the differential diagnosis of disseminated BCG disease and LCH. Case study: A 5-month-old female infant was transferred to our center for the treatment of paroxysmal cough, intermittent hematochezia and trunk rash. Examination on admission showed moderate anemia, erythropenia, thrombocytopenia and hepatosplenomegaly. The immunohistochemistry of her intestinal biopsy samples showed CD1a (+) and Langerin (+). Genetic testing of both peripheral blood and bone marrow samples suggested BRAFV600E mutation. Hence, she was initially diagnosed with LCH. However, no improvement was observed after a course of systemic chemotherapy. The left axillary lymph node and colonic mucosal biopsy specimens were sent for mNGS which resulted in sequence reads of Mycobacterium bovis-BCG. Triple antimycobacterial therapy was started according to the diagnosis. Results: The diagnosis of this case was corrected as disseminated BCG disease by mNGS. Currently, she is doing well clinically and continues to follow-up at our outpatient clinic. Conclusions: This case suggests that mNGS is a valuable tool in the differential diagnosis of disseminated BCG disease and LCH, which can improve the early diagnosis rate of disseminated BCG disease. https://jidc.org/index.php/journal/article/view/18628BCGLCHmNGSbiopsy |
| spellingShingle | Que Yang Baojing Wu Wenxia Wang Ni Tan Huarong Huang Metagenomic sequencing expedites diagnosis of disseminated BCG in an infant with BRAFV600E mutation Journal of Infection in Developing Countries BCG LCH mNGS biopsy |
| title | Metagenomic sequencing expedites diagnosis of disseminated BCG in an infant with BRAFV600E mutation |
| title_full | Metagenomic sequencing expedites diagnosis of disseminated BCG in an infant with BRAFV600E mutation |
| title_fullStr | Metagenomic sequencing expedites diagnosis of disseminated BCG in an infant with BRAFV600E mutation |
| title_full_unstemmed | Metagenomic sequencing expedites diagnosis of disseminated BCG in an infant with BRAFV600E mutation |
| title_short | Metagenomic sequencing expedites diagnosis of disseminated BCG in an infant with BRAFV600E mutation |
| title_sort | metagenomic sequencing expedites diagnosis of disseminated bcg in an infant with brafv600e mutation |
| topic | BCG LCH mNGS biopsy |
| url | https://jidc.org/index.php/journal/article/view/18628 |
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