The therapeutic mechanism of baritinib in idiopathic granulomatous mastitis treatment elucidated by single-cell RNA sequencing
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ABSTRACT:
PROVIDER: PRJNA1144462 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| SRR30134244_1.fastq.gz | Fastqsanger.gz | |||
| SRR30134244_2.fastq.gz | Fastqsanger.gz | |||
| SRR30338233_1.fastq.gz | Fastqsanger.gz | |||
| SRR30338233_2.fastq.gz | Fastqsanger.gz | |||
| SRR30338234_1.fastq.gz | Fastqsanger.gz |
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Project description:The pathogenesis of idiopathic granulomatous mastitis (IGM) remains poorly understood. Based on compelling clinical evidence, we have discovered that baricitinib, a widely prescribed medication for autoimmune disorders, exhibits remarkable efficacy in alleviating the symptoms associated with IGM. To gain a more comprehensive understanding of the underlying mechanism of baricitinib in IGM, we performed single-cell RNA sequencing (scRNA-seq) analysis and observed an augmented presence of lip-macrophages and plasma cells_IGHG in patients with IGM. Our results indicated that IGM may possess autoimmune characteristics, potentially triggered by an upregulation of plasma cells. And plasma cells were undergoing class-switch recombination from IGHA to IGHG to lead to development of autoimmunity in IGM. Our data also revealed that lip-macrophages involved in maintaining breast homeostasis are associated with pathways related to phagocytosis, endocytosis, and lipid metabolism
2025-04-15 | GSE274011 | GEO
Project description:Differential expression profiles analysis of miRNA in granulomatous lobular mastitis
| PRJNA808878 | ENA
Project description:Idiopathic granulomatous mastitis (IGM) is a rare and benign inflammatory breast disease with ambiguous aetiology. Contrastingly, lactational mastitis (LM) is commonly diagnosed in breastfeeding women. To investigate IGM aetiology, we profiled the microbial flora of pus and skin in patients with IGM and LM. A total of 26 patients with IGM and 6 patients with LM were included in the study. The 16S rRNA sequencing libraries were constructed from 16S rRNA gene amplified from total DNA extracted from pus and skin swabs in patients with IGM and LM controls. Constructed libraries were multiplexed and paired-end sequenced on HiSeq4000. Metagenomic analysis was conducted using modified microbiome abundance analysis suite customised R-resource for paired pus and skin samples. Microbiome multivariable association analyses were performed using linear models. A total of 21 IGM and 3 LM paired pus and skin samples underwent metagenomic analysis. Bray-Curtis ecological dissimilarity distance showed dissimilarity across four sample types (IGM pus, IGM skin, LM pus, and LM skin; PERMANOVA, p < 0.001). No characteristic dominant genus was observed across the IGM samples. The IGM pus samples were more diverse than corresponding IGM skin samples (Shannon and Simpson index; Wilcoxon paired signed-rank tests, p = 0.022 and p = 0.07). Corynebacterium kroppenstedtii, reportedly associated with IGM in the literature, was higher in IGM pus samples than paired skin samples (Wilcoxon, p = 0.022). Three other species and nineteen genera were statistically significant in paired IGM pus-skin comparison after antibiotic treatment adjustment and multiple comparisons correction. Microbial profiles are unique between patients with IGM and LM. Inter-patient variability and polymicrobial IGM pus samples cannot implicate specific genus or species as an infectious cause for IGM.
| S-EPMC9863225 | biostudies-literature
Project description:Granulomatous mastitis (GM) is a rare benign inflammatory breast disease that affects mostly women of childbearing age with a history of breastfeeding. The etiopathogenesis is still unknown; however, inflammation as the result of a reaction to trauma, metabolic or hormonal processes, autoimmunity, and an infection with Corynebacterium kroppenstedtii have all been implicated. Clinical findings are pain, mass, hyperemia, and inflammation. Because the clinical presentation can mimic infectious mastitis or inflammatory carcinoma, the disease course is often protracted. The diagnosis is made by histopathology. Biopsies show a granulomatous formation in combination with a localized infiltration of multi-nucleated giant cells, epithelioid histiocytes, and plasma cells. Ultrasound, mammography, and magnetic resonance imaging are not specific; however, ultrasound and mammography should be done to exclude other pathologies. Due to the lack of data including randomized controlled studies, the management of GM is controversial. In Western industrialized countries, most authors use a therapy regimen starting with antibiotics and corticosteroids, followed by continuous steroid therapy and surgery in patients with persisting symptoms. More data are needed to define the best therapy. The role of immunotherapy has not yet been ascertained. The implementation of a registry to collect more information on this rare disease is highly recommended.
| S-EPMC6381909 | biostudies-literature
Project description:Background Idiopathic granulomatous mastitis (IGM) is a rare, benign, but locally aggressive breast disease. Steroids are widely used as a breast-conserving option, however, the response rate of steroids varies in reported studies, as well as its different reported usage. This prospective observational cohort study aimed to report the outcomes of methylprednisolone for IGM treatment. Methods From Aug 2019 to Dec 2021, the clinicopathological information of 156 IGM patients who sought treatment at West China Hospital was prospectively collected. A total of 88 patients treated with methylprednisolone were included in the study. The clinical features, treatment response, and follow-up data were analyzed. Results The median age at diagnosis was 32 years, and 90.9% of patients were multipara. The predominant symptom at presentation was painful breast mass, with a median size of 4.7 cm. For steroid usage, an initial 20 mg methylprednisolone daily was given until disease stable. The median duration of 20 mg methylprednisolone treatment was 45 (range, 14–376) days. The median duration of whole steroid therapy was 105 (range, 28–381) days. A total of 80.7% of patients (71/88) responded well to steroid treatment. In 63 patients, steroid treatment was successfully withdrawn, and treatment was completed. With an average of 283 days follow-up (range, 0–770 days), relapse was observed in 21 (33.33%) patients. Compared with patients with residual disease as shown by physical examination (PE), those with complete clinical remission (CCR) at the end of treatment had longer relapse-free intervals. Conclusions Steroids are the preferable breast-conserving option for IGM. Treatment with 20 mg methylprednisolone for an average of 1.5 months is usually required, and full steroid treatment might last for 3 months.
| S-EPMC9547707 | biostudies-literature
Project description:ObjectiveGranulomatous mastitis is a rare, benign, chronic inflammatory disease of the breast of unknown etiology. This study evaluated bacteriologic agents that might play a role in the etiology of granulomatous mastitis using a molecular method with a universal primer after isolating deoxyribonucleic acid (DNA) from pathology specimens from patients diagnosed with granulomatous mastitis.Materials and methodsBreast biopsy material in the pathology department obtained between July 2008 and June 2013 was analyzed. The history of the granulomatous mastitis patients was examined in detail and paraffin block sections of the biopsy material were used to determine the presence of bacteria with a universal DNA primer.ResultsThis study examined 45 granulomatous mastitis patients who had been diagnosed using excisional, incisional, or core biopsies. We evaluated multiple bacterial taxa, but obtained no positive result using a nucleic-acid-based assay with a universal primer.ConclusionThe etiology of idiopathic granulomatous mastitis remains unclear. Further studies with a large number of patients should aim to identify the causative agent.
| S-EPMC6385714 | biostudies-literature
Project description:Objectiveto determine the clinical presentations and histopathological findings of idiopathic granulomatous mastitis, and to evaluate clinical outcomes after management.Methodsbetween 2007 and 2021, the files and histopathology reports of 17 patients with idiopathic granulomatous mastitis at Tishreen University Hospital, Latakia, Syria were reviewed. The data were analyzed and a scan through relevant literature was carried out to review related cases.Resultsthe age of patients ranged from 23 years to 57 years, and the mean age was 37.2 ± 9.57 years. All patients were female. The most common clinical presentation was breast lumps and the most common mammographic finding was ill-defined masses, which mimics breast carcinoma. Multinucleated giant cells, polymorphonuclear leukocytes, lipogranuloma-like changes and lobulocentric abscesses were the most common histopathological findings. Treatment options include: drainage of abscess along with antibiotics, steroid administration, and surgical excision. Antibiotic treatment was associated with a higher rate of complications, while use of steroids showed complete remission of the disease.Conclusionidiopathic granulomatous mastitis is a spectrum of entities that should be differentiated from breast carcinoma and other mastitis conditions, the infectious or the non-infectious ones. The clinical and radiological features resemble those of breast carcinoma and infectious mastitis. The histopathological study is considered as the most crucial element in the multidisciplinary approach to diagnose idiopathic granulomatous mastitis (IGM) and determine the optimal management to be administered.
| S-EPMC9014359 | biostudies-literature
Project description:Idiopathic granulomatous mastitis (IGM) is a chronic inflammatory disease of the breast which may present as painful, unilateral, discrete, breast masses with a tendency to recur. The pathogenesis is still unclear. In Ayurvedic literature, clinical features similar to IGM is seen in Stanavidradhi (breast abscess). We present the case of a 25-year old uniparous woman who had previously undergone excision biopsy for a breast lump and was diagnosed with IGM by histopathology examination. After one month, she developed pain, redness, and swelling at the operated site. She was treated for two months with corticosteroids and antibiotics, but the symptoms did not subside. After Ayurvedic treatment, the condition started to respond in a week and was completely resolved within three months. She was followed-up with medicines for three months and without medicines for another six months during which period, no recurrence was seen. The non-healing nature and high rate of recurrence of IGM necessitates prolonged treatment with steroids and antibiotics that have long-lasting adverse effects. In this context, Ayurveda may be able to offer an effective option with significantly fewer adverse effects, not only in the management of abscess and sinus, but also in prevention of recurrence.
| S-EPMC8642695 | biostudies-literature
Project description:Introduction and importanceIdiopathic granulomatous mastitis is an uncommon, long-lasting inflammatory condition of the female breast. It is characterized by the development of a painful breast mass that gradually increases in size. This condition is benign and its cause is unknown. It primarily affects women of childbearing age who have a history of pregnancy and breastfeeding. The main feature of idiopathic granulomatous mastitis is the presence of chronic inflammation in the breast.Case presentationWe report a 36-year-old woman with a history of pregnancy and breastfeeding presented with pain and swelling of the right breast. Physical examination revealed a mass with redness and retraction of the nipple. Imaging revealed localized density and hypoechoic areas with collection, suggesting granulomatous mastitis. A biopsy confirmed the diagnosis. The abscess was drained through a small incision performed under local anesthesia. Treatment with corticosteroids resulted in significant improvement, with complete resolution after one month.Clinical discussionA comprehensive evaluation of potential causes is necessary to confirm the diagnosis of idiopathic granulomatous mastitis. Histologically, it is distinguished by the predominant presence of neutrophils and the absence of caseous necrosis. Treatment remains controversial, with recent literature supporting the efficacy of conservative management with steroid and immunosuppressive therapy, leaving surgical excision for complicated and refractory cases.ConclusionsIdiopathic granulomatous mastitis is an uncommon breast condition where the exact causes and recommended treatment approaches are not well-defined. It is important to consider this condition in women who are in their reproductive years.
| S-EPMC11004635 | biostudies-literature
Project description: Not available
| S-EPMC11607736 | biostudies-literature