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Your search keyword '"Hereditary tumor syndrome"' showing total 2 results
Start Over Descriptor "Hereditary tumor syndrome" Journal international journal of hematology
2 results on '"Hereditary tumor syndrome"'

1. Lymphoplasmacytic lymphoma in a patient with Birt-Hogg-Dubé syndrome.

Author

Kurata, Keiji, Matsumoto, Hisayuki, Jimbo, Naoe, Yakushijin, Kimikazu, Yamamoto, Katsuya, Ito, Mitsuhiro, Nakamachi, Yuji, Matsuoka, Hiroshi, Saegusa, Jun, Seyama, Kuniaki, Itoh, Tomoo, and Minami, Hironobu

Abstract

Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disease characterized by benign skin hamartomas, pulmonary cysts leading to spontaneous pneumothorax, and an increased risk of renal cancer. BHD syndrome is caused by germline mutations in the folliculin (FLCN) gene, a putative tumor suppressor, which result in loss of function of the folliculin protein and may cause cancer predisposition. In a 45-year-old woman with anemia, lymphadenopathy, and a history of recurrent spontaneous pneumothorax, 18F-FDG PET/CT detected diffuse and slight 18F-FDG accumulation in the bone marrow, enlarged spleen, and systemic multiple enlarged lymph nodes. Genetic examination identified a germline nonsense mutation [c.998C > G (p.Ser333*)] on exon 9 of FLCN. Pathological examination of the lymph node revealed a diffuse neoplastic proliferation of plasmacytoid lymphocytes. The neoplastic lymphoid cells were positive for CD20, CD138, and light chain kappa as per immunohistochemistry and mRNA in situ hybridization, and a MYD88 gene mutation [c.755T > C (p.L252P)] was identified. Accordingly, she was diagnosed with lymphoplasmacytic lymphoma concomitant with BHD syndrome. To the best of our knowledge, this is the first report describing the development of hematological malignancy in a patient with BHD syndrome. The FLCN mutation might contribute lymphomagenesis as an additional mutation cooperating with the MYD88 mutation. [ABSTRACT FROM AUTHOR]

Published
2020
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2. Lymphoplasmacytic lymphoma in a patient with Birt-Hogg-Dube syndrome

Author

Kuniaki Seyama, Mitsuhiro Ito, Yuji Nakamachi, Kimikazu Yakushijin, Jun Saegusa, Katsuya Yamamoto, Keiji Kurata, Hisayuki Matsumoto, Hironobu Minami, Tomoo Itoh, Hiroshi Matsuoka, and Naoe Jimbo

Subjects
Pathology, medicine.medical_specialty, Nonsense mutation, Gene mutation, Birt–Hogg–Dubé syndrome, Lymphoplasmacytic Lymphoma, Birt-Hogg-Dube Syndrome, Germline mutation, Hereditary tumor syndrome, Positron Emission Tomography Computed Tomography, Proto-Oncogene Proteins, Biomarkers, Tumor, Medicine, Humans, Genetic Predisposition to Disease, Folliculin, Germ-Line Mutation, business.industry, Tumor Suppressor Proteins, Autosomal dominant trait, Birt-Hogg-Dubé syndrome, Hematology, Exons, Middle Aged, MYD88 Gene Mutation, medicine.disease, Antigens, CD20, Myeloid Differentiation Factor 88, Lymphoplasmacytic lymphoma, Female, Syndecan-1, Waldenstrom Macroglobulinemia, business
Abstract

Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disease characterized by benign skin hamartomas, pulmonary cysts leading to spontaneous pneumothorax, and an increased risk of renal cancer. BHD syndrome is caused by germline mutations in the folliculin (FLCN) gene, a putative tumor suppressor, which result in loss of function of the folliculin protein and may cause cancer predisposition. In a 45-year-old woman with anemia, lymphadenopathy, and a history of recurrent spontaneous pneumothorax,F-18-FDG PET/CT detected diffuse and slight (18)F-FDG accumulation in the bone marrow, enlarged spleen, and systemic multiple enlarged lymph nodes. Genetic examination identified a germline nonsense mutation [c.998C > G (p.Ser333*)] on exon 9 of FLCN. Pathological examination of the lymph node revealed a diffuse neoplastic proliferation of plasmacytoid lymphocytes. The neoplastic lymphoid cells were positive for CD20, CD138, and light chain kappa as per immunohistochemistry and mRNA in situ hybridization, and a MYD88g ene mutation [c.755T > C (p.L252P)] was identified. Accordingly, she was diagnosed with lymphoplasmacytic lymphoma concomitant with BHD syndrome. To the best of our knowledge, this is the first report describing the development of hematological malignancy in a patient with BHD syndrome. The FLCN mutation might contribute lymphomagenesis as an additional mutation cooperating with the MYD88 mutation.

Published
2020

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