A Case of an Adult Wilms Tumour in a Patient With Velocardiofacial Syndrome

Ferreira, Elizabeth O.; Mohaghegh, Mohammad Ali; Venkat, Siv; Drachenberg, Darrel; Battistuzzi, Susan; Ji, Shuying

doi:10.1016/j.urology.2019.12.019

Cited by 2 publications

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“…It is known that many congenitally inherited syndromes are associated with a higher risk of malignancy ( 16 , 17 ) with the development of malignancies, mainly hematological but also hepatic, renal, and cerebral ( 8 , 18 ). Malignant tumors in the head and neck region, as well as in other districts, have rarely been described ( 19 – 21 ). The risk of malignancy in 22q11.2DS is moderately increased when compared to the healthy general pediatric population with a reported frequency of 1% in the 22q11.2DS population ( 20 ).…”

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confidence: 99%

Risk of thyroid neoplasms in patients with 22q11.2 deletion and DiGeorge-like syndromes: an insight for follow-up

et al. 2023

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IntroductionThe chromosome 22q11.2 deletion syndrome comprises phenotypically similar diseases characterized by abnormal development of the third and fourth branchial arches, resulting in variable combinations of congenital heart defects, dysmorphisms, hypocalcemia, palatal dysfunction, developmental or neuropsychiatric disorders, and impairment of the immune system due to thymic dysfunction. Other genetic syndromes, often called DiGeorge-like, share clinical and immunological features with 22q11.2 deletion syndrome. This syndrome has been rarely associated with malignancies, mainly hematological but also hepatic, renal, and cerebral. Rarely, malignancies in the head and neck region have been described, although no aggregate of data on the development of thyroid neoplasms in patients with this clinical phenotype has been conducted so far.Materials and methodsTo characterize this possible association, a multicenter survey was made. Thus, we present a case series of five pediatric patients with 22q11.2 deletion syndrome or DiGeorge-like syndrome who were occasionally found with confirmed or highly suspected neoplasms of the thyroid gland during their follow-up. In three cases, malignancies were histologically confirmed, but their outcome was good due to an early recognition of suspicious nodules and precocious surgery.ConclusionsThis study underlines for clinicians the higher risk of neoplasms in the head and neck district for patients affected by these syndromes. It also emphasizes the importance of a prolonged clinical and ultrasound follow-up for patients with this clinical and immunological phenotype.

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Section: Introductionmentioning

confidence: 99%

Risk of thyroid neoplasms in patients with 22q11.2 deletion and DiGeorge-like syndromes: an insight for follow-up

et al. 2023

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Literature Review of an Adult Woman with Wilms' Tumor

Cakiroglu,

Tas,

Solak

et al. 2021

Hellenic Urology

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Wilms' tumor (WT), also known as nephroblastoma, is considered as an embryonal tumor due to nephrogenesis and histologic mimics of the early-onset age. WT is the most common renal tumor in children, but it is extremely rare in adults. WT is known to be a very chemosensitive tumor, and modern clinical trials aim to improve risk classification to reduce the burden of treatment. Diagnosis of WT is usually made after nephrectomy, so the possibility of preoperative chemotherapy is only possible in patients diagnosed with biopsy. A 48-year-old female with a history of 3-week left upper quadrant and left flank pain applied to a general practitioner. There was no previous trauma, hematuria, or other systemic symptoms. Further investigation with computed tomography (CT) scan of the abdomen with intravenous contrast revealed enlarged left kidney mass lesion within the left lower pole measuring up to 7.4 cm × 7.5 cm × 9.2 cm [Figure 1]. The patient underwent open radical left nephrectomy, retroperitoneal lymph node dissection, and partial excision [Figure 2]. Radical nephrectomy was performed, and when nephroblastoma was detected in histopathological examination, she was consulted with medical oncology. After positron emission tomography-CT examination revealed a thyroid involvement, a biopsy was performed, and it was diagnosed as papillary thyroid carcinoma. Total thyroidectomy was performed by the ear, nose, and throat and papillary thyroid carcinoma was diagnosed. Then, the patient started on vincristine dactinomycin therapy. There was no recurrence at the 3rd, 6th, 12th, and 36th month controls of the patient.

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A Case of an Adult Wilms Tumour in a Patient With Velocardiofacial Syndrome

Cited by 2 publications

References 3 publications

Risk of thyroid neoplasms in patients with 22q11.2 deletion and DiGeorge-like syndromes: an insight for follow-up

Risk of thyroid neoplasms in patients with 22q11.2 deletion and DiGeorge-like syndromes: an insight for follow-up

Literature Review of an Adult Woman with Wilms' Tumor

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