scholarly journals Fanconi Anemia: main oral manifestations

2014 ◽  
Vol 62 (3) ◽  
pp. 281-288 ◽  
Author(s):  
Anna Clara Duszczak D'AGULHAM ◽  
Cassiano Lima CHAIBEN ◽  
Antônio Adilson Soares de LIMA ◽  
Cassius Carvalho TORRES-PEREIRA ◽  
Maria Ângela Naval MACHADO
Keyword(s):  
Bone Marrow ◽  
Squamous Cell Carcinoma ◽  
Bone Marrow Transplantation ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Fanconi Anemia ◽  
Marrow Transplantation ◽  
Genetic Disorder ◽  
Oral Manifestations ◽  
Increased Risk

Fanconi Anemia is a recessive and rare genetic disorder, characterized by chromosomal instability that induces congenital alterations in individuals. Aplastic anemia due to the progressive failure of the bone marrow, malignant neoplasias such as acute myeloid leukemia, liver tumors and squamous cell carcinoma are some of the possible evolutions of Fanconi Anemia. Some of these diseases develop mainly after bone marrow transplantation. The aim of this critical review of the literature was to discourse about the main oral manifestations and their involvement in the health of individuals who are ill with Fanconi Anemia. The clinical oral findings described in the literature include periodontal changes, such as gingivitis and aggressive periodontitis, recurrent aphthous ulcers and traumatic lesions. Papillary atrophy, macroglossia, melanic pigmentation and squamous cell carcinoma are the most common oral manifestations on the tongue. An increased risk for the development of malignant neoplasias in individuals with Fanconi Anemia has been reported, and this is progressive after bone marrow transplantation. In radiographs, dental anomalies such as the presence of supernumerary teeth, tooth agenesis, tooth rotation and transposition of teeth are observed. Salivary flow and some salivary components are also altered. Due to the increased susceptibility to the development of cancer in this specific population, it is important for the dentist to know the common oral manifestations and potentially cancerous lesions, in order to make an early diagnosis in individuals with Fanconi Anemia.

Oral squamous cell carcinoma in two siblings with Fanconi anemia after allogeneic bone marrow transplantation

2013 ◽  
Vol 34 (4) ◽  
pp. 212-215 ◽  
Author(s):  
Cassius Carvalho Torres-Pereira ◽  
Roberta Targa Stramandinoli-Zanicotti ◽  
José Miguel Amenábar ◽  
Laurindo Moacir Sassi ◽  
Paola Andrea Galbiatti Pedruzzi ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Squamous Cell Carcinoma ◽  
Bone Marrow Transplantation ◽  
Oral Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Fanconi Anemia ◽  
Marrow Transplantation ◽  
Allogeneic Bone Marrow Transplantation ◽  
Allogeneic Bone

scholarly journals Squamous cell carcinoma of the tongue after bone marrow transplantation in a patient with Fanconi anemia

2006 ◽  
Vol 17 (2) ◽  
pp. 161-165 ◽  
Author(s):  
Fernanda Gonçalves Salum ◽  
Gabriela Botelho Martins ◽  
Maria Antonia Zancanaro de Figueiredo ◽  
Karen Cherubini ◽  
Liliane Soares Yurgel ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Squamous Cell Carcinoma ◽  
Bone Marrow Transplantation ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Fanconi Anemia ◽  
Marrow Transplantation ◽  
Bone Marrow Failure ◽  
Oral Lesions ◽  
Carcinoma Of The Tongue

Fanconi anemia (FA) is an autosomal recessive disorder that might cause a variety of congenital and developmental abnormalities. The most important features of FA are progressive bone marrow failure and development of malignancies, particularly acute myeloid leukemia and solid tumors. This paper reports the case of a 12-year-old patient with FA assisted at the Stomatology and Bucomaxillofacial Cancer Prevention Service of São Lucas Hospital, Brazil, who had been submitted to bone marrow transplantation (BMT) at the age of 5 and exhibited oral lesions characteristic of chronic graft versus host disease (GVHD). The patient was treated and followed-up for the oral lesions. Eleven years after the BMT, he developed squamous cell carcinoma of the tongue with an aggressive behavior, which was considered an untreatable condition. The patient died few months later from asphyxia at the age of 16. The reasons for development of these malignant conditions are unknown. However, chromosomal instability typically observed in FA cases, BMT factors and GVHD have been considered. Systematic follow-up of these patients allows early and less invasive therapeutic approaches.

scholarly journals Oral Squamous Cell Carcinoma in a Patient with Fanconi Anemia

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Milla Huuhka ◽  
Aaro Turunen
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Fanconi Anemia ◽  
Bone Marrow Failure ◽  
Genetic Disorder ◽  
Treatment Options ◽  
Skin Lesions ◽  
Increased Risk

Fanconi anemia (FA) is a rare autosomal recessive genetic disorder characterized by different types of malformations, skin lesions, bone marrow failure, and increased risk for both hematological malignancies and solid tumors, especially head and neck squamous cell carcinomas (HNSCC). FA patients may also display a low tolerance to oncologic treatments. The authors present a case of mandibular squamous cell carcinoma in a young FA patient. Because of the aggressive nature of the SCC and complex treatment options, we recommend a strict lifelong follow-up for all FA patients to detect early changes in the oral mucosa.

scholarly journals A Case of Tongue Squamous Cell Carcinoma in a Chronic GVHD Patient after Bone Marrow Transplantation

2020 ◽  
Vol 26 (1) ◽  
pp. 52-55
Author(s):  
Aoi SAKUYAMA ◽  
Yoshinori JINBU ◽  
Junichi HAYASAKA ◽  
Naruo OKADA ◽  
Tadahide NOGUCHI ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Squamous Cell Carcinoma ◽  
Bone Marrow Transplantation ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Marrow Transplantation ◽  
Chronic Gvhd ◽  
Tongue Squamous Cell Carcinoma

scholarly journals Diagnosis and Treatment for Squamous Cell Carcinoma of the Oral Tongue in a Patient with Fanconi Anemia

2020 ◽  
Author(s):  
Siyao Deng ◽  
Wenjing Ye ◽  
Shichuan Zhang ◽  
Peng Zhang ◽  
Yanqiong Song ◽  
...  
Keyword(s):  
Risk Factors ◽  
Bone Marrow ◽  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Squamous Cell ◽  
Bone Marrow Failure ◽  
Genetic Disorder ◽  
Oral Tongue ◽  
Increased Risk

Abstract BackgroundFanconi anemia (FA) is a rare genetic disorder characterized by congenital anomalies, progressive bone marrow failure and high susceptibility to various solid tumors, especially head and neck squamous cell carcinoma (HNSCC). Management of FA patients with head and neck cancer is a challenge due to increased risk of surgery, poor tolerance of chemotherapy, and severe myelotoxicity of radiotherapy.MethodsWe present a case of a 33-year-old man with carcinoma of the oral tongue (T1N2M0), who experienced prolonged and profound bone marrow failure as a consequence of concurrent cisplatin/radiation. The young patient who developed HNSCC without risk factors, the myelotoxicity after exposure to the platinum-based agent cisplatin and the further evaluation of phenotypic characteristics raised suspicion of FA. Whole exome sequencing performed for the patient and parents ultimately established the diagnosis of FA.ResultsGenetic testing in the 23 FANC genes revealed two novel heterozygous mutations, c.367C>T (p.Gln123*) and c.3971_3972delCGinsTT (p.Pro13241.cu) in FANCA gene of the patient, which were inherited from his father and mother, respectively. Radiotherapy with reduced dose has successfully alleviated the symptoms of tumor invasion and progression, and the radiation-related side effects were acceptable. Unfortunately, the patient died of locoregional disease progression.ConclusionsThis case highlights the importance of considering the diagnosis of FA in young patients who develop HNSCC in the absence of risk factors, thus permitting more effective oncological treatment strategies and improved outcomes. In general, any decision on different modalities of management in such patients should be based on a balance between locoregional control and therapeutic toxicity.

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