Colon adenocarcinoma and Birt–Hogg–Dubé syndrome in a young patient: case report and exploration of pathologic implications

Colon adenocarcinoma and Birt–Hogg–Dubé syndrome in a young patient: case report and exploration of pathologic implications

Birt–Hogg–Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN) that result in the functional loss of the tumor suppressor folliculin. It is classically associated with cutaneous hamartomas, pulmonary cysts with spontaneous pneumothorax, and...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Grant W. Jirka, Daniel S. Lefler, Jessica Russo, Babar Bashir
Μορφή:	Άρθρο
Γλώσσα:	English
Έκδοση:	Taylor & Francis Group 2023-12-01
Σειρά:	Cancer Biology & Therapy
Θέματα:	birt–hogg–dubé syndrome colorectal cancer folliculin gene flcn mutation wnt signaling
Διαθέσιμο Online:	http://dx.doi.org/10.1080/15384047.2023.2184153

Παρόμοια τεκμήρια

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A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
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A case of bilateral renal oncocytomas in the setting of Birt-Hogg-Dube syndrome
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Generation of the human induced pluripotent stem cell lines (CMCi009-A) from a patient with Birt-Hogg-Dubé syndrome (BHD) with heterozygous frameshift deletion mutation c.1285delC of the FLCN gene
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Characteristic Chest Computed Tomography Findings for Birt–Hogg–Dube Syndrome Indicating Requirement for Genetic Evaluation
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Oncocytic carcinoma of the parotid gland as a manifestation of Birt-Hogg-Dube syndrome
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Concurrent Germline and Somatic Mutations in FLCN and Preliminary Exploration of Its Function: A Case Report
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A familial case of Birt–Hogg–Dubé syndrome complicated with various cancers
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Birt-Hogg-Dubé syndrome in apparent primary spontaneous pneumothorax patients; results and recommendations for clinical practice
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A case of pulmonary ALK-positive histiocytosis combined with Birt-Hogg-Dubé syndrome carrying an EML4::ALK gene fusion: a case report and literature review
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