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Mesenterial involvement of Mycobacterium genavense infection: hard to find, hard to treat.

ABSTRACT: Mycobacterium genavense is a rare pathogen affecting severely immunosuppressed patients. We report the case of persistent relapsing M. genavense infection in a 48-year-old African man with a positive diagnosis of HIV infection. Despite being under effective antiretroviral therapy with partial immune reconstitution, he developed irreversible long-term abdominal complications, possibly due to persistent M. genavense infection and sustained inflammation. Case management consists of individual risk assessment, close follow-up and personalised treatment strategies concerning the duration of antimycobacterial therapy and early application of steroids. Patients with profound immunosuppression, a high viral load at HIV diagnosis and a high burden of M. genavense, appear to be at higher risk. The pathogenicity of this complication is not well known and its optimal management has still to be determined.

SUBMITTER: Wassilew N

PROVIDER: S-EPMC4434391 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature

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Mesenterial involvement of Mycobacterium genavense infection: hard to find, hard to treat.

Wassilew Nasstasja N Ciaffi Laura L Calmy Alexandra A

BMJ case reports 20150514

Mycobacterium genavense is a rare pathogen affecting severely immunosuppressed patients. We report the case of persistent relapsing M. genavense infection in a 48-year-old African man with a positive diagnosis of HIV infection. Despite being under effective antiretroviral therapy with partial immune reconstitution, he developed irreversible long-term abdominal complications, possibly due to persistent M. genavense infection and sustained inflammation. Case management consists of individual risk ...[more]

PMID: 25976189

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Project description:BackgroundSarcoidosis is a systemic inflammatory disease that is characterized by non-caseating epithelioid-cell granulomas upon histology. However, similar histological findings may also be seen with certain infections. Thus, differentiation from infection is pivotal to ensure appropriate treatment. Here, we present a case of a disseminated infection with Mycobacterium genavense owing to an interleukin 12 receptor subunit beta 1 (IL-12Rβ1) associated immunodeficiency in a previously healthy female who was initially misdiagnosed with sarcoidosis. M. genavense is a nontuberculous mycobacterium which can cause lymphadenopathy, gastrointestinal and bone marrow infiltration in immunocompromised patients. With this case report we aim to highlight that an infection with M. genavense on the ground of a genetic defect of mycobacterial immune control may represent a rare differential diagnosis of sarcoidosis.Case presentationA 31-year-old female was referred to our hospital with progressive lymphadenopathy, hepatosplenomegaly, pancytopenia and systemic inflammation. She had previously been evaluated for generalized lymphadenopathy in another hospital. At that time, lymph node biopsies had revealed sarcoid-like lesions and a systemic corticosteroid treatment was initiated based on a putative diagnosis of sarcoidosis. When her condition worsened, she was transferred to our university clinic, where the diagnosis of disseminated M. genavense infection owing to an inborn interferonopathy was made. Her family history revealed that her brother had also suffered from IL-12Rβ1 deficiency and had died from a systemic infection with M. genavense at the age of 21. The patient received antimycobacterial treatment combined with subcutaneous type I interferon, which eventually led to a gradual improvement over the next months.ConclusionsDifferentiating between sarcoidosis and sarcoid-like lesions secondary to infections may be challenging, especially when pathogens are difficult to detect or not expected in an apparently immunocompetent patient. Patients with IL-12Rβ1-associated immunodeficiency may be asymptomatic until adulthood, and disseminated M. genavense infection on the grounds of an IL-12Rβ1-associated immunodeficiency may represent a rare differential diagnosis of sarcoidosis.

Project description:ImportanceLittle progress in pediatric cancer treatment has been noted in the past decade, urging the development of novel therapeutic strategies for adolescents and children with hard-to-treat cancers. Use of comprehensive molecular profiling in the clinical management of children and adolescents with cancer appears a suitable approach to improve patient care and outcomes, particularly for hard-to-treat cases.ObjectiveTo assess the feasibility of identifying potentially actionable mutations using next-generation sequencing-based assays in a clinically relevant time frame.Design, setting, and participantsThis diagnostic study reports the results of the TRICEPS study, a prospective genome sequencing study conducted in Québec, Canada. Participants, aged 18 years or younger at diagnosis, with refractory or relapsed childhood and adolescent cancers were enrolled from April 2014 through January 2018. Whole-exome sequencing (WES) of matched tumor normal samples and RNA sequencing of tumor were performed to identify single-nucleotide variants, fusion transcripts, differential gene expression, and copy number alterations. Results reviewed by a team of experts were further annotated, synthesized into a report, and subsequently discussed in a multidisciplinary molecular tumor board.Main outcomes and measuresMolecular profiling of pediatric patients with hard-to-treat cancer, identification of actionable and targetable alteration needed for the management of these patients, and proposition of targeted and personalized novel therapeutic strategies.ResultsA total of 84 patients with hard-to-treat cancers were included in the analysis. These patients had a mean (range) age of 10.1 (1-21) years and a similar proportion of male (45 [54%]) and female (39 [46%]). Sixty-two patients (74%) had suitable tissues for multimodal molecular profiling (WES and RNA sequencing). The process from DNA or RNA isolation to genomic sequencing and data analysis steps took a median (range) of 24 (4-41) days. Potentially actionable alterations were identified in 54 of 62 patients (87%). Actions were taken in 22 of 54 patients (41%), and 18 (33%) either were on a second or third line of treatment, were in remission, or had stable disease and thus no actions were taken.Conclusions and relevanceIncorporating genomic sequencing into the management of hard-to-treat childhood and adolescent cancers appeared feasible; molecular profiling may enable the identification of potentially actionable alterations with clinical implications for most patients, including targeted therapy and clinically relevant information of diagnostic, prognostic, and monitoring significance.

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Mesenterial involvement of Mycobacterium genavense infection: hard to find, hard to treat.

Publications

Mesenterial involvement of Mycobacterium genavense infection: hard to find, hard to treat.

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