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PP-119 Squamous cell carcinoma in a child with bloom syndrome
  1. Iris Mustafaraj1,
  2. Mert Yurtsever1,
  3. Mert Yücel1,
  4. Tuba Eren2,
  5. Yıldız Gürsel Ürün3,
  6. Canberk Topuz4,
  7. Nuray Can4,
  8. Hakan Gürkan5
  1. 1Trakya University School of Medicine, Edirne, Türkiye
  2. 2Department of Pediatric Hematology and Oncology, Trakya University School of Medicine, Edirne, Türkiye
  3. 3Department of Dermatology and Venereology, Trakya University School of Medicine, Edirne, Türkiye
  4. 4Department of Medical Pathology, Trakya University School of Medicine, Edirne, Türkiye
  5. 5Department of Medical Genetics, Trakya University School of Medicine, Edirne, Türkiye


Aim Bloom syndrome is a rare genetic disorder characterized by an increased risk of early-onset malignancies. Since its description half a century ago, there have been fewer than 300 reported cases, and only 8 of them presented with squamous cell carcinoma. We present a young male with advanced squamous cell carcinoma of the skin with Bloom syndrome.

Material and Method Case Report: A 16-year-old male patient submitted with a skin lesion on the left temporal area. An excisional biopsy was performed, reporting a moderately differentiated squamous cell carcinoma. The patient‘s early-onset cancer, clinically short stature, skin rashes, and café-au-lait spots raise suspicion of cancer predisposition syndrome. As a result of genetic tests, the patient was found to be heterozygous for the BLM gene (NM_000057.4) with a c.34C>T (p.Gln12Ter) variant. This is a novel variant that has not been reported in open-access databases, which causes Bloom syndrome. Extended local resection was performed 4 times due to the progression of the tumor, and then the patient was referred to the pediatric hematology and oncology service. Cranial MRI revealed lymph nodes and brain metastasis. The patient was treated with cisplatin/5-fluorouracil and radiotherapy for metastasis. After 6 cycles of chemotherapy, the refractory pain resolved and the progression of the tumor stopped.

Results -

Conclusions As a rare genetic disorder, knowledge about Bloom syndrome is limited. Therefore, it is essential to raise awareness for the early diagnosis of patients with this syndrome and prevent tumor development, such as squamous cell carcinoma, by avoiding their exposure to different carcinogenic agents. It would also be necessary to implement policies to reduce consanguineous marriages within the population, which is a significant factor contributing to the prevalence of Bloom syndrome.

  • Bloom syndrome
  • squamous cell carcinoma
  • Cancer predisposition
  • Genetic instability
  • BLM mutation

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