scholarly journals An extremely rare case of Rosai-Dorfman disease in the spleen

BMC Surgery ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Xuewu Yang ◽  
Chuang Fang ◽  
Yuanpu Sha ◽  
Qi Li ◽  
Xing Zhang ◽  
...  
Keyword(s):  
Rare Case ◽  
Young Male ◽  
Abdominal Ultrasonography ◽  
Case Presentation ◽  
Rosai Dorfman Disease ◽  
Enhanced Ct ◽  
Splenic Involvement ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing ◽  
Ct And Mri

Abstract Background Rosai-Dorfman disease (RDD) is a rare, multisystemic histiocytic disorder, and commonly manifesting as lymphadenopathy in the young male. Abdominal manifestations of RDD are extremely rare. Case presentation In August 2018, a 42-year-old man underwent an abdominal ultrasonography examination due to his weight loss of 10 kg in only three months and found a giant solid tumor was found in his spleen. Then, he was admitted to our hospital and diagnosed as a splenic mass via abdominal enhanced CT and MRI. Laparoscopic splenectomy was administrated within six days of admission due to the clear surgical indications. The pathogenesis of RDD remained poorly understood and the disease should be diagnosed based on histopathology and immunohistochemistry (IHC). The mutations in ATM and NFKBIA were observed using next generation sequencing (NGS). Conclusion We reported a case of splenic involvement of RDD with NGS genetic testing, indicating the difficulty of making a diagnosis before surgery. This extremely rare case offers new references for the understanding of abdominal viscera RDD.

scholarly journals A Rare Case of Recurrent Ovarian Cancer With NTRK1-TPM3 Gene Rearrangement

2021 ◽  
Author(s):  
Yuta Endo ◽  
Takafumi Watanabe ◽  
Motonobu Saito ◽  
Katsuharu Saito ◽  
Rei Suzuki ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Gene Fusion ◽  
Rare Case ◽  
Gynecologic Cancer ◽  
Stage Iv ◽  
Recurrent Ovarian Cancer ◽  
Case Presentation ◽  
Interval Debulking Surgery ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Background: NTRK gene fusion is rare in gynecologic cancer. Entrectinib is a novel targeted drug which is a potent inhibitor of TRK A, B and C. Here, we present a case of recurrent ovarian cancer with NTRK1-TPM3 rearrangement, which was detected by next-generation sequencing (NGS) and treated with entrectinib. Case Presentation: A 56-year-old woman was diagnosed as having stage IV ovarian cancer due to pleural effusion. Neoadjuvant chemotherapy and interval debulking surgery followed by chemotherapy were performed. Ten months after completion of chemotherapy, the patient’s disease recurred. She was treated with multimodal therapy for recurrence. DNA-based NGS detected NTRK1-TPM3 rearrangement and entrectinib was started. However, the patient’s disease progressed despite six weeks’ administration of entrectinib, and one month after discontinuation of entrectinib, she died. After her death immunohistochemistry with a pan-Trk monoclonal antibody was performed to determine the expression of TRK. However, immunohistochemistry was negative for TRK.Conclusion: We presented a rare case of recurrent ovarian cancer with NTRK1-TPM3 gene fusion, in which entrectinib was not effective. While NTRK gene fusion was detected by DNA-based NGS, immunohistochemistry was negative for TRK. Immunohistchemitory should be performed for confirmation of TRK protein expression before entrectinib administration.

scholarly journals Severe pneumonia caused by Parvimonas micra: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Qing Yu ◽  
Lingling Sun ◽  
Zuqing Xu ◽  
Lumei Fan ◽  
Yunbo Du
Keyword(s):  
Bronchoalveolar Lavage Fluid ◽  
Case Reports ◽  
Severe Pneumonia ◽  
Lavage Fluid ◽  
Due Date ◽  
Case Presentation ◽  
Abdominal Abscesses ◽  
Parvimonas Micra ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Background Parvimonas micra (P. micra) is a gram-positive anaerobic coccus that is detected widely on the skin, in the oral mucosa and in the gastrointestinal tract. In certain circumstances, P. micra can cause abdominal abscesses, bacteraemia and other infections. To the best of our knowledge, there have been no case reports describing the biological characteristics of P. micra-related pneumonia. These bacteria do not always multiply in an aerobic organ, such as the lung, and they could be easily overlooked because of the clinical mindset. Case presentation A 35-year-old pregnant woman was admitted to the emergency department 4 weeks prior to her due date who was exhibiting 5 points on the Glasgow coma scale. A computed tomography (CT) scan showed a massive haemorrhage in her left basal ganglia. She underwent a caesarean section and brain surgery before being admitted to the ICU. She soon developed severe pneumonia and hypoxemia. Given that multiple sputum cultures were negative, the patient’s bronchoalveolar lavage fluid was submitted for next-generation sequencing (NGS) to determine the pathogen responsible for the pneumonia; as a result, P. micra was determined to be the causative pathogen. Accordingly the antibiotic therapy was altered and the pneumonia improved. Conclusion In this case, we demonstrated severe pneumonia caused by the anaerobic organism P. micra, and the patient benefited from receiving the correct antibiotic. NGS was used as a method of quick diagnosis when sputum culture failed to distinguish the pathogen.

scholarly journals Protruded duodenal tumor arising from Santorini’s duct of the pancreas: a rare case of intraductal papillary mucinous neoplasm mimicking a duodenal polypoid tumor

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Haruna Komatsubara ◽  
Hiroyuki Kato ◽  
Daisuke Noguchi ◽  
Kazuyuki Gyoten ◽  
Aoi Hayasaki ◽  
...  
Keyword(s):  
Intraductal Papillary Mucinous Neoplasm ◽  
Rare Case ◽  
Resected Specimen ◽  
Case Presentation ◽  
Duodenal Tumor ◽  
Mucinous Neoplasm ◽  
First Case ◽  
Enhanced Ct ◽  
Duodenal Lumen ◽  
Polypoid Tumor

Abstract Background We experienced a rare case of intraductal papillary mucinous neoplasm arising from Santorini’s duct (SD) forming a tumor protruding into the duodenum . Case presentation A 71-year-old woman was incidentally diagnosed with a 3 cm type Isp polypoid tumor in the second portion of the duodenum at another hospital. Enhanced CT and endoscopic ultrasound revealed that the origin of this protruding tumor was arising from SD and that the tumor mimicked a pedunculated duodenal tumor. Our preoperative diagnosis was a malignant pancreatic tumor arising from SD with invasion into the duodenum. She underwent a subtotal stomach-preserving pancreaticoduodenectomy, and the resected specimen showed a 25 mm tumor protruding into the duodenum with a villous surface. The pathological findings revealed that the tumor was intraductal papillary mucinous adenoma (IPMA) arising from SD. Conclusions To the best of our knowledge, this is the first case of IPMA protruding into the duodenal lumen from SD, although most of the tumors arising from SD have been reported to be malignant.

scholarly journals Empyema caused by Streptococcus constellatus: a case report and literature review

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jingyan Xia ◽  
Lexin Xia ◽  
Hui Zhou ◽  
Xiuhui Lin ◽  
Feng Xu
Keyword(s):  
Computed Tomography ◽  
Pleural Effusion ◽  
Clinical Laboratory ◽  
Case Presentation ◽  
Chest Computed Tomography ◽  
Streptococcus Anginosus ◽  
Streptococcus Constellatus ◽  
Routine Clinical Laboratory ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Background Streptococcus constellatus is a member of Streptococcus anginosus group (SAG) that tends to cause pyogenic infections in various sites. However, Streptococcus constellatus is easily ignored by routine clinical laboratory tests for its prolonged anaerobic culture environment. Case presentation A 71-year-old man was admitted to our hospital due to productive cough, fever, chest pain and shortness of breath for 3 weeks. Chest computed tomography showed patchy opacities and right-sided pleural effusion, so a chest tube was inserted and purulent and hemorrhagic fluid was aspirated. The routine etiological examinations of the pleural effusion were all negative, and next-generation sequencing (NGS) detected Streptococcus constellatus. Intravenous piperacillin-tazobactam 4.5 g every 8 h was used accordingly. The patient recovered and subsequent chest computed tomography confirmed the improvement. Conclusions We reported a case of empyema secondary to Streptococcus constellatus infection, which was identified by NGS, instead of bacterial culture. This case highlights the utility of NGS in detecting pathogens negative in traditional bacterial tests.

scholarly journals A rare case of recurrent ovarian cancer with NTRK1-TPM3 gene rearrangement

2021 ◽  
Author(s):  
Yuta Endo ◽  
Takafumi Watanabe ◽  
Motonobu Saito ◽  
Katsuharu Saito ◽  
Rei Suzuki ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Gene Fusion ◽  
Rare Case ◽  
Multimodal Therapy ◽  
Gynecologic Cancer ◽  
Stage Iv ◽  
Recurrent Ovarian Cancer ◽  
Interval Debulking Surgery ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Background: NTRK gene fusion is rare in gynecologic cancer. Entrectinib is a novel targeted drug which is a potent inhibitor of TRK A, B and C. Here, we present a case of recurrent ovarian cancer with NTRK1-TPM3 rearrangement, which was detected by next-generation sequencing (NGS) and treated with entrectinib. Case Presentation:A 56-year-old woman was diagnosed as having stage IV ovarian cancer due to pleural effusion. Neoadjuvant chemotherapy and interval debulking surgery followed by chemotherapy were performed. Ten months after completion of chemotherapy, the patient’s disease recurred. She was treated with multimodal therapy for recurrence. DNA-based NGS detected NTRK1-TPM3 rearrangement and entrectinib was started. However, the patient’s disease progressed despite six weeks’ administration of entrectinib, and one month after discontinuation of entrectinib, she died. After her death immunohistochemistry with a pan-Trk monoclonal antibody was performed to determine the expression of NTRK. However, immunohistochemistry was negative for NTRK.Conclusion: We presented a rare case of recurrent ovarian cancer with NTRK1-TPM3 gene fusion, in which entrectinib was not effective. While NTRK gene fusion was detected by DNA-based NGS, immunohistochemistry was negative for NTRK. Immunohistchemitory should be performed for confirmation of NTRK protein expression before entrectinib administration.

scholarly journals A mass in the upper abdomen derived from Talaromyces marneffei infected lymphadenopathy: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Xue Chen ◽  
Lin Jia ◽  
Yongfeng Wu ◽  
Jing Chang ◽  
Tong Zhang ◽  
...  
Keyword(s):  
Human Immunodeficiency Virus ◽  
Case Report ◽  
Abdominal Mass ◽  
Case Presentation ◽  
Talaromyces Marneffei ◽  
Immunodeficiency Virus ◽  
Upper Abdominal ◽  
Upper Abdomen ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Background An upper abdominal mass without tenderness often indicates a benign or malignant tumor once liver or spleen hyperplasia has been excluded. A lymphadenopathic mass from Talaromyces marneffei infection is rare. Case presentation We report the case of a 29-year-old human immunodeficiency virus (HIV) infected man who presented with an upper abdominal mass and without any symptoms related with infection. Histopathology and next-generation sequencing (NGS) following biopsy of the mass confirmed T. marneffei-infected lymphadenopathy, and the patient was successfully treated with amphotericin B and itraconazole. Conclusions This case report suggests that potential fungal infection should be considered during the diagnostic workup of a mass in clinical practice.

scholarly journals Acute Lymphocytic Leukemia With KMT2A-ELL Fusion Mutation in a Patient With Untreated Chronic Lymphocytic Leukemia: A Case Report and Literature Review

2021 ◽  
Author(s):  
Shilin Zhang ◽  
Sennan Qiao ◽  
Wei Han ◽  
Ruiping Hu ◽  
Zhonghua Du ◽  
...  
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Fusion Gene ◽  
Tp53 Gene ◽  
Lymphocytic Leukemia ◽  
Lower Limbs ◽  
Case Presentation ◽  
Coding Sequence ◽  
Patient Reported ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Background: The concurrent of chronic lymphocytic leukemia (CLL) and acute myeloid leukemia (AML) in a patient is a rare situation, and has caused obstacles in clinical management. Case presentation: In the current study, we described a 64-year old female who was characterized by intermittent fatigue, edema of both lower limbs, dyspnea, and occasionally fever up to 39°C. The admission blood routine detections and the flow cytometry showed the patient was impaired by both CLL and AML. In RT-qPCR molecular detection, KMT2A-ELL fusion gene t (11:10) (q23:p13.1) was detected, which was verified by FISH detections. The next-generation sequencing (NGS) revealed a missense mutation of p.V157F in the coding sequence of TP53 gene, and frameshift mutations of p.V220fs and p.A382fs in the coding sequence of WT1. Conclusions: Collectively, the patient reported in this case was simultaneously impaired by CLL and AML. Our findings also inferred that the concurrent of CLL and AML might be attributed to the fusion mutation in KMT2A-ELL gene.

The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Enise Avci Durmusalioglu ◽  
Esra Isik ◽  
Durdugul Ayyildiz Emecen ◽  
Damla Goksen ◽  
Samim Ozen ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Diagnostic Process ◽  
Homozygous Mutation ◽  
Lysinuric Protein Intolerance ◽  
Case Presentation ◽  
Lysinuric Protein ◽  
Next Generation Sequencing Ngs ◽  
Protein Intolerance ◽  
Generation Sequencing

Abstract Objectives Childhood osteoporosis is often a consequence of a chronic disease or its treatment. Lysinuric protein intolerance (LPI), a rare secondary cause of the osteoporosis, is an autosomal recessive disorder with clinical features ranging from minimal protein intolerance to severe multisystemic involvement. We report a case diagnosed to have LPI using a Next Generation Sequencing (NGS) panel and evaluate the utility of reverse phenotyping. Case presentation A fifteen-year-old-boy with an initial diagnosis of osteogenesis imperfecta, was referred due to a number of atypical findings accompanying to osteoporosis such as splenomegaly and bicytopenia. A NGS panel (TruSight One Sequencing Panel) was performed and a novel homozygous mutation of c.257G>A (p.Gly86Glu) in the SLC7A7 gene (NM_001126106.2), responsible for LPI, was detected. The diagnosis was confirmed via reverse phenotyping. Conclusions Reverse phenotyping using a multigene panel shortens the diagnostic process.

scholarly journals A Case of Adult Pancreatoblastoma With Novel APC Mutation and Genetic Heterogeneity

2021 ◽  
Vol 11 ◽  
Author(s):  
Yamato Suemitsu ◽  
Yusuke Ono ◽  
Yusuke Mizukami ◽  
Juanjuan Ye ◽  
Keiko Yamakawa ◽  
...  
Keyword(s):  
Tumor Cells ◽  
Clonal Evolution ◽  
Neuroendocrine Differentiation ◽  
Cell Types ◽  
Case Presentation ◽  
Molecular Abnormalities ◽  
Cartilaginous Tumor ◽  
Next Generation Sequencing Ngs ◽  
Apc Mutation ◽  
Generation Sequencing

BackgroundPancreatoblastoma is a rare malignant epithelial neoplasm of the pancreas that mainly occurs in children and involves abnormalities in the WNT/β-catenin pathway, such as CTNNB1 mutation. However, the molecular abnormalities in adult pancreatoblastoma are not well known.Case PresentationAn elderly man, who underwent elective distal pancreatectomy and splenectomy, was referred to our hospital with a mass in the tail of the pancreas. Histologically, the lesion revealed proliferation of clear, basophilic, and cartilaginous tumor cells with lymphatic metastasis. Each of the morphologically distinct tumor components showed different immunohistochemical patterns, indicating heterogeneous differentiation, including epithelial (both acinar and ductal), mesenchymal, and neuroendocrine differentiation. All tumor components showed nuclear expression of β-catenin and cyclin D1. Per next-generation sequencing (NGS), the clear and basophilic tumor cells shared mutations in APC, GRM8, LAMP1, and AKA9. Among the mutations, APC, c.1816_1817insA showed the highest frequency in both cell types, indicating that APC mutation was a driver mutation of the tumor. A diagnosis of PB was rendered.SummaryIn conclusion, the clear and basophilic cells of the tumor were supposedly derived from the same clone and subsequently acquired additional mutations. This is the first report of clonal evolution in pancreatoblastoma.

scholarly journals An extremely rare case of Rosai–Dorfman disease in the thymus

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Cheng Shen ◽  
Hu Liao
Keyword(s):  
Preoperative Diagnosis ◽  
Rare Case ◽  
Review Of The Literature ◽  
Short Term ◽  
Case Presentation ◽  
Massive Lymphadenopathy ◽  
Rosai Dorfman Disease ◽  
Night Sweats ◽  
Systemic Symptoms ◽  
Clinical And Pathological Features

Abstract Background There were very few reports of Rosai–Dorfman disease in the thymus, which known as sinus histiocytosis with massive lymphadenopathy. It usually accompanied with other systemic symptoms such as fever, malaise, night sweats, or weight loss in the short term. Case presentation We herein report a rare case of RDD of thymic origin and a review of the literature concerning the clinical and pathological features of this disease, which is often misdiagnosed as thymoma. The patient was underwent thymectomy to extirpate the lesion completely by video-assisted thoracic surgery. Conclusions To the best of our knowledge, this is the fourth thymus occurring RDD case with proof via histology and IHC. Our findings suggest the difficulty of making a diagnosis before surgery and more cases will need to be reported in order to facilitate the preoperative diagnosis of such a rare tumor.

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