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 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.

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.

scholarly journals Squamous cell carcinoma of the scrotum in HIV: two case reports

2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Jeff John ◽  
Ken Kesner ◽  
John Lazarus
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Case Reports ◽  
Treatment Options ◽  
Punch Biopsy ◽  
Delayed Treatment ◽  
Clinical Presentations ◽  
T1 N0 M0

Abstract Background Squamous cell carcinoma (SCC) of the scrotum was the first malignancy known to be associated with exposure to an occupational carcinogen—in this case, soot trapped in the breeches of chimney sweeps. Better civil rules and regulations and the replacement of hearths with other forms of heating have rendered SCC of the scrotum a rarity. We report two cases of scrotal SCC with vastly differing clinical presentations and management. Case presentation Case 1 had T1 N0 M0 disease and presented with a small (< 2 cm), innocuous-looking, non-healing ulcer of eight years duration. A punch biopsy revealed a superficially invasive SCC confirmed on immunohistochemical profiling. A wide local excision of the lesion was subsequently performed. Follow-up at three years showed no signs of recurrence. Case 2 presented with T4 N1 M1 disease and rapidly progressing locally destructive mass. A punch biopsy of the scrotal lesion confirmed invasive moderately differentiated focally keratinising SCC. The metastatic evaluation confirmed the presence of metastatic, extensive para-aortic lymphadenopathy. He was managed with cisplatin-based chemoradiotherapy. Conclusion Early detection and management of patients with SCC of the scrotum are essential. If the diagnosis is delayed, treatment options become limited, and the prognosis is poor. Notwithstanding the rarity of this disease, multicentre trials are needed to provide more precise guidelines as to the optimal management of these patients.

Progressive increasing in the risk of second and subsequent malignant tumors in patients with a head and neck cancer: A validation study with SEER data.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 5595-5595
Author(s):  
Xavier Leon ◽  
Antonio Lopez-Pousa ◽  
J Carlos Villatoro ◽  
Miquel Quer ◽  
Ivana Sullivan ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Head And Neck ◽  
Squamous Cell ◽  
Malignant Tumors ◽  
Progressive Increase ◽  
Aerodigestive Tract ◽  
Seer Program ◽  
Increased Risk

5595 Background: Patients with a head and neck squamous cell carcinoma (HNSCC) index tumor have a increased risk (2-4% per year) for appearance of a second malignant neoplasms (SMN) and higher risk for successive malignant tumors during the follow-up. The objective of our study was to validate this concept with data of patients included in the Surveillance Epidemiology and End Results (SEER) program (1973-2008). Methods: We performed a population-based cohort study of 149.328 patients with a primary oral cavity, oropharynx, hypopharynx and larynx squamous cell carcinoma index tumor, included in the SEER program, to analize the actuarial survival-free of second and successive tumors. A total of 11.948 (8%) patients had one or more malignant tumors before the diagnosis of HNSCC. Results: During the follow-up period, a total of 31.507 new SMN appeared. There was a progressive and significant increase in the risk of SMN. The annual hazard ratio for 2nd to 7th successive SMN was 2.3%, 2.7%, 3.9%, 5.4%, 8.9% and 19.1% annual risk respectively. Additionally 11 patients had 8th SMN. We observed a progressive increase in the risk of appearence of new malignant tumors located in and outside the aerodigestive tract. The increase in the risk of SMN was higher for tumors located in the aerodigestive tract than tumors located outside aerodigestive tract. It was a tendency towards the increase in the proportion of HNSCC with the appearance of new tumors, with a decrease in the proportion of the malignant tumors located in the lung and in locations outside the aerodigestive tract. There were significant differences inthe risk of SMN between second and third, third and fourth, fourth and fifth, and sist and seventh tumors (p<0.0001). Conclusions: In patients with HNSCC there is a progressive increase in the risk of appearance of successive tumors. Previous tobacco and alcohol consumption, persistence in the exposure to carcinogens and individual susceptibility (genetic) could play a role in the increased risk of SMN. We have validated this concept with data from the SEER program.

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.

Intraoral Mitochondrial-Targeted GS Nitroxide JP4-039 Ameliorates Radiation-Induced Mucositis in Orthotopic Tumor-Bearing Fanconi Anemia (FA) (Fancd2-/-) Mice.

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 5961-5961
Author(s):  
Ashwin Shinde ◽  
Byung Han Rhieu ◽  
Hebist Berhane ◽  
Eva C. Guinan ◽  
Kalindi Parmar ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Oral Cavity ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Fanconi Anemia ◽  
Bone Marrow Failure ◽  
Fractionated Irradiation ◽  
Wild Type ◽  
Tumor Bearing ◽  
Radiation Induced

Abstract Fanconi anemia (FA) patients suffer from bone marrow failure, hematologic malignancies and late onset of squamous cell carcinoma. Some FA patients are highly sensitive to irradiation due to cellular DNA repair defect. Very severe radiation-induced mucositis can be dose limiting for these FA patients. We tested intraoral delivery of the mitochondrial-targeted antioxidant, JP4-039, in a novel F15 emulsion, to reduce mucositis in irradiated FA mice, namely FancD2-deficient mice, with orthotopic TC-1 squamous cell carcinoma cell line derived tumors. TC-1 cells (1 x 106) were injected into the left cheek of Fancd2+/+, Fancd2+/-, and Fancd2-/- mice. Once tumors were palpable, mice were treated with fractionated irradiation of 8 Gy x 4 days to the oral cavity. Subgroups of mice (N=4/group) received intraoral JP4-039/F15 (100 ul containing 4 mg/ml of JP4-039 via a feeding tube placed in the oral cavity) 10 minutes prior to irradiation, F15 alone or irradiation alone. Tumor size was measured daily. Five days after the last radiation dose, mice were sacrificed, tumors and tongue tissue removed for histopathology, and gene transcripts quantitated by real time polymerase chain reaction (RT-PCR). Intraoral JP4-039/F15 prior to 8 Gy x 4 significantly decreased oral cavity ulceration (p < 0.001). Following 8 Gy x 4, F15-JP4-039 treated Fancd2-/- knockout mice had 47.8 ± 11.1% of the tongue ulcerated compared to 81.7 ± 11.6% ulceration in irradiated control mice (p < 0.001). Results in F15-JP4-039 treated irradiated heterozygotes and wild-type Fancd2+/+ mice (34.1 ± 21.2 or 16.9 ± 12.6% ulceration, respectively) were also improved compared to control-irradiated mice (88.3 ± 8.0 or 76.3 ± 17.2% ulceration, respectively) (p < 0.001 for all groups). In contrast, F15 alone did not reduce ulceration. Fancd2-/- F15-JP4-039 treated mice still displayed increased ulceration compared to Fancd2+/+ mice (47.8 ± 11.1% and 16.9 ± 12.6%, respectively, p < 0.0001), Both single fraction and fractionated irradiation controlled tumors at 5 days in Fancd2+/+, Fancd2+/-, and Fancd2-/- mice (0.4 ± 0.3, 0.05 ± 0.05, or 0.1 ± 0.1 mm3, respectively) compared to nonirradiated controls (2.1 ± 0.4, 1.9 ± 0.5, or 3.1 ± 0.1 mm3, respectively, p ≤ 0.027). Tumor bearing Fancd2-/- mice had reduction in irradiation induced normal oral tissue NFKB, MnSOD, p21, and IL1a transcripts, while tumor bearing Fancd2+/+ and Fancd2+/- mice showed elevated transcripts for irradiation induced TGFB, Nrf2, Gadd45, IL1a, and p-21 (p<0.0412 and p<0.0041, respectively) compared to a nonirradiated tumor bearing mouse. In conclusion; an antioxidant intraoral JP4-039 protects normal tissue in irradiated Fancd2-/- as well as wild-type mice without associated tumor protection. JP4-039 therefore can be useful agent during radiation therapy of squamous cell carcinoma in Fanconi anemia patients. Disclosures No relevant conflicts of interest to declare.

Pembrolizumab for previously treated advanced anal squamous cell carcinoma: Pooled results from the KEYNOTE-028 and KEYNOTE-158 studies.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 4020-4020 ◽  
Author(s):  
Aurelien Marabelle ◽  
Philippe Alexandre Cassier ◽  
Marwan Fakih ◽  
Steven Chuan-Hao Kao ◽  
Dorte Nielsen ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Antitumor Activity ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Standard Therapy ◽  
Tissue Sample ◽  
Treatment Options ◽  
Anal Squamous Cell Carcinoma ◽  
Previously Treated

4020 Background: Patients (pts) with anal squamous cell carcinoma (ASCC) have poor outcomes and few treatment options. We report a pooled analysis of pembrolizumab (pembro) antitumor activity and safety in the ASCC cohorts of the multicohort studies KEYNOTE-028 (NCT02054806; phase 1b) and KEYNOTE-158 (NCT02628067; phase 2), providing a robust sample size and longer follow-up. Methods: Eligible pts were aged ≥18 y with histologically/cytologically confirmed metastatic/unresectable ASCC, had prior failure of/intolerance to standard therapy or no standard therapy options, measurable disease (RECIST v1.1), ECOG PS 0/1, and a tissue sample evaluable for PD-L1/biomarkers (KEYNOTE-028 required PD-L1 positivity). Baseline PD-L1 expression was assessed using a prototype IHC assay (QualTek) in KEYNOTE-028 and the PD-L1 IHC 22C3 pharmDx assay (Agilent Technologies) in KEYNOTE-158. Pts received pembro 10 mg/kg Q2W (KEYNOTE-028) or 200 mg Q3W (KEYNOTE-158) for 2 y or until PD/unacceptable AEs. The primary endpoint in both studies was ORR (per RECIST v1.1). Secondary endpoints were duration of response (DOR), PFS, OS, and safety. Results: 137 pts with ASCC were treated in KEYNOTE-028 (n = 25) or KEYNOTE-158 (n = 112) and were included in this analysis (median age, 61 y; 83.2% women; 73.0% had PD-L1–positive tumors). Median follow-up was 11.7 mo; 124 pts (90.5%) had discontinued treatment. ORR (95% CI) was 10.9% (6.3%–17.4%). 8 pts had CR and 7 had PR. ORR (95% CI) by PD-L1 status was 14.0% (7.9%–22.4%) in the PD-L1 positive group and 3.3% (0.1%–17.2%) in the PD-L1 negative group. Among all treated pts, median DOR was not reached (range, 6.0+ to 57.5+ mo). By Kaplan-Meier estimation, 84.6% of responders had a DOR ≥24 mo. Median PFS was 2.1 mo (95% CI, 2.0–2.1) and median OS was 11.7 mo (95% CI, 8.8–14.5). The 12-mo PFS and OS rates were 14.5% and 47.4%. 85 pts (62.0%) had +1 treatment-related AE, 24 pts (17.5%) with grade 3–4 events (no grade 5 events). 32 pts (23.4%) had immune-mediated AEs; 2 pts (1.5%) had infusion related reactions. Conclusions: In pts with previously treated advanced ASCC, pembro showed durable antitumor activity, particularly in pts with PD-L1–positive tumors, and manageable toxicity. Clinical trial information: NCT02054806 (KEYNOTE-028), NCT02628067 (KEYNOTE-158) .

Posterior pharyngeal wall squamous cell carcinoma arising in a patient with dyskeratosis congenita

2012 ◽  
Vol 126 (12) ◽  
pp. 1299-1301
Author(s):  
A Qureishi ◽  
A Lamyman ◽  
P Silva ◽  
G Cox
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Bone Marrow Failure ◽  
Posterior Pharyngeal Wall ◽  
Dyskeratosis Congenita ◽  
Upper Aerodigestive Tract ◽  
Bone Marrow Failure Syndrome ◽  
Pharyngeal Wall ◽  
Increased Risk

AbstractObjectives:Dyskeratosis congenita is a rare, inherited bone marrow failure syndrome characterised by telomerase dysfunction. This study aimed to demonstrate the importance of recognising that this condition predisposes individuals to head and neck malignancy, and also to discuss the challenges of treatment in such individuals.Case report:We present the case of a 30-year-old man with dyskeratosis congenita, who presented with a squamous cell carcinoma of the posterior pharyngeal wall. The patient was treated successfully with surgical resection.Conclusion:Dyskeratosis congenita is a rare condition; however, it is vital to recognise the increased risk of upper aerodigestive tract cancers in these patients. Management of such cancers can be particularly difficult in view of the need to avoid DNA-damaging therapies such as radiotherapy.

Management of extensive squamous cell carcinoma on the site of radiation-induced dermatitis with severe fibrosis: a case report

2010 ◽  
Vol 9 (2) ◽  
pp. 125-128
Author(s):  
Chirag B. Patel ◽  
Rashid M. Rashid ◽  
Tri H. Nguyen
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Treatment Options ◽  
Common Side Effect ◽  
Cutaneous Lesions ◽  
Increased Risk ◽  
Radiation Induced ◽  
Neck Mobility ◽  
Severe Fibrosis

AbstractDermatitis is a common side effect of radiation therapy (RT) whereas squamous cell carcinoma (SCC) is not. Management must include treatment options outside of RT, especially when cases are limited by extreme fibrosis. Here, we present a case in which a patient developed multiple SCC, severe radiation fibrosis, and limited neck mobility. This situation of increased risk for intubation required interdisciplinary coordination for proper therapeutic intervention, namely Mohs micrographic surgery to manage cutaneous lesions.

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