Beckwith–Wiedemann syndrome with juvenile fibrous nodules and lobular breast tumors: a case report and review of the literature
Abstract Background Beckwith–Wiedemann syndrome (BWS) is a genomic imprinting disorder caused by diverse genetic and/or epigenetic disorders of chromosome 11p15.5. BWS presents with a variety of clinical features, including overgrowth and an increased risk of embryonal tumors. Notably however, repor...
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Japan Surgical Society
2024-03-01
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| Series: | Surgical Case Reports |
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| Online Access: | https://doi.org/10.1186/s40792-024-01865-2 |
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| author | Yo Sato Yusuke Watanabe Takafumi Morisaki Saori Hayashi Yoshiki Otsubo Yurina Ochiai Kimihisa Mizoguchi Yuka Takao Mai Yamada Yusuke Mizuuchi Masafumi Nakamura Makoto Kubo |
| author_facet | Yo Sato Yusuke Watanabe Takafumi Morisaki Saori Hayashi Yoshiki Otsubo Yurina Ochiai Kimihisa Mizoguchi Yuka Takao Mai Yamada Yusuke Mizuuchi Masafumi Nakamura Makoto Kubo |
| author_sort | Yo Sato |
| collection | DOAJ |
| description | Abstract Background Beckwith–Wiedemann syndrome (BWS) is a genomic imprinting disorder caused by diverse genetic and/or epigenetic disorders of chromosome 11p15.5. BWS presents with a variety of clinical features, including overgrowth and an increased risk of embryonal tumors. Notably however, reports of patients with BWS and breast tumors are rare, and the association between these conditions is still unclear. Insulin-like growth factor-2 (IGF2) expression is known to be associated with the development of various cancers, including breast cancer, and patients with BWS with specific subtypes of molecular defects are known to show characteristic clinical features and IGF2 overexpression. Case presentation A 17-year-old girl who had been diagnosed with BWS based on an umbilical hernia, hyperinsulinemia, and left hemihypertrophy at birth, visited our department with a gradually swelling left breast. Her left breast was markedly larger than her right breast on visual examination. Imaging examinations showed two tumors measuring about 10 cm each in the left breast, and she was diagnosed with juvenile fibroadenoma following core needle biopsy. The two breast tumors were removed surgically and the patient remained alive with no recurrence. The final diagnosis was juvenile fibroadenoma without malignant findings. Immunohistochemical staining using IGF2 antibody revealed overexpression of IGF2 in the cytoplasm of ductal epithelial cells. Because of her clinical features and IGF2 overexpression, molecular defects of 11p15.5 including a possible genetic background of paternal uniparental disomy of chromosome 11 or hypermethylation of imprinting center 1 was suspected. Conclusions In this case, overexpression of IGF2 suggested a possible relationship between BWS and breast tumors. Moreover, the characteristic clinical features and IGF2 staining predicted the subtype of 11p15.5 molecular defects in this patient. |
| format | Article |
| id | doaj-art-468ebdc36d054de5b3cdf6fe9280bded |
| institution | Kabale University |
| issn | 2198-7793 |
| language | English |
| publishDate | 2024-03-01 |
| publisher | Japan Surgical Society |
| record_format | Article |
| series | Surgical Case Reports |
| spelling | doaj-art-468ebdc36d054de5b3cdf6fe9280bded2025-08-20T03:56:13ZengJapan Surgical SocietySurgical Case Reports2198-77932024-03-011011710.1186/s40792-024-01865-2Beckwith–Wiedemann syndrome with juvenile fibrous nodules and lobular breast tumors: a case report and review of the literatureYo Sato0Yusuke Watanabe1Takafumi Morisaki2Saori Hayashi3Yoshiki Otsubo4Yurina Ochiai5Kimihisa Mizoguchi6Yuka Takao7Mai Yamada8Yusuke Mizuuchi9Masafumi Nakamura10Makoto Kubo11Departments of Surgery and Oncology, Graduate School of Medical Sciences, Kyushu University HospitalDepartments of Surgery and Oncology, Graduate School of Medical Sciences, Kyushu University HospitalDepartment of Breast Surgical Oncology, Kyushu University HospitalDepartment of Breast Surgical Oncology, Kyushu University HospitalDepartment of Breast Surgical Oncology, Kyushu University HospitalDepartment of Breast Surgical Oncology, Kyushu University HospitalDepartments of Surgery and Oncology, Graduate School of Medical Sciences, Kyushu University HospitalDepartments of Surgery and Oncology, Graduate School of Medical Sciences, Kyushu University HospitalDepartments of Surgery and Oncology, Graduate School of Medical Sciences, Kyushu University HospitalDepartments of Surgery and Oncology, Graduate School of Medical Sciences, Kyushu University HospitalDepartments of Surgery and Oncology, Graduate School of Medical Sciences, Kyushu University HospitalDepartments of Surgery and Oncology, Graduate School of Medical Sciences, Kyushu University HospitalAbstract Background Beckwith–Wiedemann syndrome (BWS) is a genomic imprinting disorder caused by diverse genetic and/or epigenetic disorders of chromosome 11p15.5. BWS presents with a variety of clinical features, including overgrowth and an increased risk of embryonal tumors. Notably however, reports of patients with BWS and breast tumors are rare, and the association between these conditions is still unclear. Insulin-like growth factor-2 (IGF2) expression is known to be associated with the development of various cancers, including breast cancer, and patients with BWS with specific subtypes of molecular defects are known to show characteristic clinical features and IGF2 overexpression. Case presentation A 17-year-old girl who had been diagnosed with BWS based on an umbilical hernia, hyperinsulinemia, and left hemihypertrophy at birth, visited our department with a gradually swelling left breast. Her left breast was markedly larger than her right breast on visual examination. Imaging examinations showed two tumors measuring about 10 cm each in the left breast, and she was diagnosed with juvenile fibroadenoma following core needle biopsy. The two breast tumors were removed surgically and the patient remained alive with no recurrence. The final diagnosis was juvenile fibroadenoma without malignant findings. Immunohistochemical staining using IGF2 antibody revealed overexpression of IGF2 in the cytoplasm of ductal epithelial cells. Because of her clinical features and IGF2 overexpression, molecular defects of 11p15.5 including a possible genetic background of paternal uniparental disomy of chromosome 11 or hypermethylation of imprinting center 1 was suspected. Conclusions In this case, overexpression of IGF2 suggested a possible relationship between BWS and breast tumors. Moreover, the characteristic clinical features and IGF2 staining predicted the subtype of 11p15.5 molecular defects in this patient.https://doi.org/10.1186/s40792-024-01865-2Beckwith–Wiedemann syndromeHemihypertrophyFibrous nodules and lobular breast tumorInsulin-like growth factor-2 |
| spellingShingle | Yo Sato Yusuke Watanabe Takafumi Morisaki Saori Hayashi Yoshiki Otsubo Yurina Ochiai Kimihisa Mizoguchi Yuka Takao Mai Yamada Yusuke Mizuuchi Masafumi Nakamura Makoto Kubo Beckwith–Wiedemann syndrome with juvenile fibrous nodules and lobular breast tumors: a case report and review of the literature Surgical Case Reports Beckwith–Wiedemann syndrome Hemihypertrophy Fibrous nodules and lobular breast tumor Insulin-like growth factor-2 |
| title | Beckwith–Wiedemann syndrome with juvenile fibrous nodules and lobular breast tumors: a case report and review of the literature |
| title_full | Beckwith–Wiedemann syndrome with juvenile fibrous nodules and lobular breast tumors: a case report and review of the literature |
| title_fullStr | Beckwith–Wiedemann syndrome with juvenile fibrous nodules and lobular breast tumors: a case report and review of the literature |
| title_full_unstemmed | Beckwith–Wiedemann syndrome with juvenile fibrous nodules and lobular breast tumors: a case report and review of the literature |
| title_short | Beckwith–Wiedemann syndrome with juvenile fibrous nodules and lobular breast tumors: a case report and review of the literature |
| title_sort | beckwith wiedemann syndrome with juvenile fibrous nodules and lobular breast tumors a case report and review of the literature |
| topic | Beckwith–Wiedemann syndrome Hemihypertrophy Fibrous nodules and lobular breast tumor Insulin-like growth factor-2 |
| url | https://doi.org/10.1186/s40792-024-01865-2 |
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