scholarly journals Systemic and Craniospinal Rosai Dorfman Disease with Intraparenchymal, Intramedullary and Leptomeningeal Disease

2021 ◽  
Author(s):  
Yi Li MD ◽  
Emily Sloan ◽  
Andrew Bollen ◽  
David Solomon ◽  
Philip Theodosopoulos ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Rare Case ◽  
Leptomeningeal Disease ◽  
Next Generation ◽  
Leptomeningeal Involvement ◽  
Massive Lymphadenopathy ◽  
Rosai Dorfman Disease ◽  
Immunohistochemical Diagnosis ◽  
Generation Sequencing ◽  
Sinonasal Involvement

Rosai Dorfman disease is a rare histiocytic disorder of over-production of non-Langerhans histiocytes, which typically manifests with massive lymphadenopathy and sinonasal involvement.  We report a rare case of systemic and disseminated craniospinal Rosai-Dorfman disease with intraparenchymal and leptomeningeal involvement, but no sinus or dural-based disease.  The diagnosis was established by biopsy of a hypothalamic mass.  Additionally, UCSF500 Next Generation Sequencing demonstrated a solitary pathogenic alteration affecting the BRAF oncogene, which supports the morphologic and immunohistochemical diagnosis of Rosai-Dorfman disease.

scholarly journals Pericardial rosai-dorfman disease: the role of next generation sequencing

Pathology ◽  
2021 ◽  
Vol 53 ◽  
pp. S32
Author(s):  
Sharron Liang ◽  
Min Li Huang ◽  
Bin Wang ◽  
Min R. Qiu
Keyword(s):  
Next Generation Sequencing ◽  
Next Generation ◽  
Rosai Dorfman Disease ◽  
Generation Sequencing

scholarly journals Cutaneous metastasis as a primary presentation of a pulmonary enteric adenocarcinoma

2019 ◽  
Vol 34 (4) ◽  
pp. 421-426 ◽  
Author(s):  
Annalisa Todisco ◽  
Valeria Internò ◽  
Luigia Stefania Stucci ◽  
Carmela Ostuni ◽  
Domenica Lovero ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Primary Tumor ◽  
Rare Case ◽  
Cutaneous Metastasis ◽  
Response To Treatment ◽  
Sequencing Analysis ◽  
Next Generation ◽  
Molecular Features ◽  
Next Generation Sequencing Analysis ◽  
Generation Sequencing

Background: Primary pulmonary enteric adenocarcinoma (PEAC) is a rare non-small cell lung cancer subtype sharing morphologic and immunohistochemical features with colorectal adenocarcinoma. Given the frequency of lung metastases in colorectal cancer, the differential diagnosis of PEAC according to routine morphological and immunohistochemical findings may be difficult. Genome sequence by next-generation sequencing has recently introduced new perspectives to better define the diagnosis and tumor sensitivity to treatments, while the rarity of this subtype of cancer still limits the current knowledge of its molecular features and provides no information to address patients to tailored therapies. Methods: We diagnosed a rare case of subcutaneous metastasis as a first symptom of a PEAC. Formalin-fixed paraffin-embedded samples of the primary tumor and subcutaneous metastases were examined by immunohistochemistry, and subsequently by targeted next-generation sequencing analysis. Results: Morphological and immunohistochemical findings suggested a rare case of metastatic pulmonary adenocarcinoma with enteric aspects. Next-generation sequencing analysis performed on both the primary tumor sample and the cutaneous lesion identified two pathogenic variants on CDKN2A and KRAS in both of them. However, the metastasis showed two additional pathogenic mutations located in SMAD4 and FLT3 genes. Conclusions: We describe for the first time an extensive molecular analysis on a rare case of PEAC with an unusual cutaneous metastasis. Our observation suggests that a specific pattern of mutations is harbored in this neoplasm, and that additional molecular studies may provide further information to identify prognostic and hopefully predictive genes of response to treatment.

scholarly journals A rare case of adrenal gland abscess due to anaerobes detected by metagenomic next-generation sequencing

2020 ◽  
Vol 8 (5) ◽  
pp. 247-247 ◽  
Author(s):  
Wenting Jin ◽  
Qing Miao ◽  
Mengran Wang ◽  
Yao Zhang ◽  
Yuyan Ma ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Adrenal Gland ◽  
Rare Case ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene

2019 ◽  
Vol 99 (9) ◽  
pp. 828-830 ◽  
Author(s):  
A Diociaiuti ◽  
A Angioni ◽  
E Pisaneschi ◽  
M Margollicci ◽  
R Boldrini ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Nonsense Mutation ◽  
Rare Case ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals A Rare Case of Human Diphallia Associated with Hypospadias

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Andrey Frolov ◽  
Yun Tan ◽  
Mohammed Waheed-Uz-Zaman Rana ◽  
John R. Martin
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Variants ◽  
Rare Case ◽  
The Body ◽  
Next Generation ◽  
Live Births ◽  
Clinical Observations ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing ◽  
Congenital Variant

Diphallia or penile duplication is a rare congenital variant with an estimated frequency of 1 per 5 to 6 million live births. The extent of duplication varies widely and typically occurs with other malformations including urogenital, gastrointestinal, and musculoskeletal anomalies. Here we present a case of human diphallia that was detected during routine dissection of an 84-year-old cadaver. Upon thorough examination, this case was characterized as a complete bifid penis which was accompanied by hypospadias with no other anatomical abnormalities detected. To gain insights into the etiology of this case, we analyzed DNA procured from the body for putative genetic variants using Next Generation Sequencing (NGS) technology. Our results support clinical observations consistent with human diphallia being a polygenic syndrome and identify new genetic variants that might underlie its etiology.

Sign in / Sign up

Export Citation Format

Share Document