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Mosaicism of a novel variant in the ANKRD11 gene in a child with a mild KBG phenotype:A case report

World Journal of Medical Genetics 2023年第2期11卷 21-27页

作者： Roberto Franceschi Francesca Rivieri Antonio Novelli Daniele Ferretti adriano anesi Massimo Soffiati Giulia Porretti Evelina Maines Mafalda Mucciolo Giorgio Radetti Department of Pediatrics S.Chiara Hospital of TrentoAPSSTrento 38122Italy Genetic Unit Laboratory of Clinical PathologyDepartment of LaboratoriesAPSSTrento 38122Italy Laboratory of Medical Genetics Ospedale Pediatrico Bambino GesùRome 00165Italy Human Genetics Laboratory Ospedale Pediatrico Bambino GesùRome 00165Italy Department of Pediatrics S.Chiara General HospitalAPSSTrento 38122Italy Department of Radiology S.Chiara General HospitalAPSSTrento 38122Italy Department of Pediatrics General Hospital BolzanoMarienklinikBolzano 39100Italy

BACKGROUND KBG syndrome is likely underdiagnosed because of mild and non-specific features in some affected patients especially before the upper permanent central incisors eruption at about the age of 7-8 *** mosaicisms are usually recognized in the parents only after a typically affected son is diagnosed with KBG *** describe for the first time the mosaicism of a novel variant in a child with a mild KBG *** SUMMARY Our patient presented at 24 mo of age with short stature,hand abnormalities,facial dysmorphism and mild developmental *** hypoplasia and central hypothyroidism were also *** next generation sequencing(NGS)analysis we found a novel deletion in the ANKRD11 gene(c.4880_4893del.),that can be classified as likely pathogenic for the syndrome,with the percentage of mutated allele of 36%.We considered this finding as causative of the mild and non-specific phenotype for KBG syndrome in our patient,as previously reported in adults.A heterozygous variant in HESX1 gene,classified as variant of uncertain significance,but suspected of causing pituitary hypoplasia and hormonal deficiency,was also *** patient started levothyroxine and growth hormone *** The increased use of NGS analysis may expand the phenotypic spectrum of KBG syndrome because it allows genetic diagnosis of somatic mosaicisms also in children.

关键词： ANKRD11 KBG Mosaic HESX1 Child Case report

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Absence of adjuvant radiotherapy may be an additional criteria in diagnosing a branchiogenic squamous cell carcinoma: A case report

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Open Journal of Stomatology 2012年第1期2卷 63-67页

作者： Alexandre anesi Giuseppe Pollastri Vincenzo Bondì Sara Barberini Luigi Chiarini Section of Cranio-Maxillo-Facial Surgery Department of Head and Neck Surgery University Hospital of Modena Modena Italy Section of Oral and Maxillofacial Surgery Department of Surgery Azienda Ospedaliera Universitaria Integrata Verona Italy

Branchiogenic carcinoma is extremely rare. The majority of branchiogenic carcinomas are cystic metastases originating in the tonsils, and not true carcinomas arising in a branchial cleft cyst. Isolated cystic neck lesions necessitate a thorough search for a primary tumor, as with other occult primaries presenting with cervical metastases. As the existence of primary branchiogenic carcinoma is controversial, Martin and colleagues and then Khafif and coworkers established a series of widely accepted criteria to recognize this type of carcinoma. We report a case of a large cervical mass, consistent with a branchiogenic carcinoma of the second branchial arch. The patient underwent excision of the neck mass through a radical neck dissection. The cyst wall was found to have squamous cell carcinoma arising from the benign epithelium. Follow-up at 7 years revealed no evidence of recurrence. All diagnostic criteria for a true branchiogenic carcinoma were met in this case. The absence of adjuvant irradiation is a further confirmation that the mass is not a cystic node metastasis but a carcinoma arised from within a branchial cleft cyst.

关键词： Branchial Cleft Cyst Branchial Cyst Branchiogenic Carcinoma Malignant Branchioma Cystic Cervical Lymph Node Metastasis

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