A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis

Hibi, Yatsuka; Ohye, Tamae; Ogawa, Kimio; Shimizu, Yoshimi; Shibata, Masahiro; Kagawa, Chikara; Mizuno, Yutaka; Kurahashi, Hiroki; Iwase, Katsumi

doi:10.1507/endocrj.ej13-0335

Cited by 11 publications

(10 citation statements)

References 26 publications

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“…The potential association of RET variants with CAKUT and MEN2A/MTC in the same individual has been reported in three other families (p.C618R, C620S and C634R) 13–15. A critical distinction from the present case, however, is that in these previous reports, a CAKUT diagnosis was a secondary finding in an adult who presented clinically with cancer.…”

Section: Discussioncontrasting

confidence: 39%

Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with aRETmutation

Wood

Else

Sampson³

2019

BMJ Case Rep

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Pathogenic variants in the RET gene can cause isolated and multi-system diseases. We report a patient diagnosed prenatally with unilateral multicystic dysplastic kidney and genitourinary abnormality whose mother had multiple endocrine neoplasia type 2A (MEN2A). Targeted RET sequencing found the same pathogenic variant p.C618S in the child as her mother. The child is followed by paediatric nephrology for congenital anomalies of the kidney and urinary tract (CAKUT) and by endocrine oncology for surveillance for MEN2A-related endocrine tumours. While implicated in each of these conditions individually, RET variants have never been reported to cause MEN2A and CAKUT together. This child’s family history prompted RET sequencing, resulting in presymptomatic, personalised care for MEN2A. However, this case supports the idea that genetic screening of RET (and many other genes) in patients with CAKUT may lead to molecular diagnoses that potentially improve their health through precision care.

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Section: Discussioncontrasting

confidence: 39%

Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with aRETmutation

Wood

Else

Sampson³

2019

BMJ Case Rep

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“…RET variants are a frequent cause of Hirschsprung disease and the underlying cause of multiple endocrine neoplasia type 2 (MEN2). RET variants have previously been reported in patients harboring both Hirschsprung disease and kidney anomalies or a combination of MEN2A and kidney anomalies, 32,33 which underlines that the same RET variant may cause multiple-organ manifestations.…”

Section: Variant In Ret (+164761)mentioning

confidence: 95%

Targeted gene sequencing and whole‐exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies

et al. 2018

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Identification of fetal kidney anomalies invites questions about underlying causes and recurrence risk in future pregnancies. We therefore investigated the diagnostic yield of next-generation sequencing in fetuses with bilateral kidney anomalies and the correlation between disrupted genes and fetal phenotypes. Fetuses with bilateral kidney anomalies were screened using an in-house-designed kidney-gene panel. In families where candidate variants were not identified, whole-exome sequencing was performed. Genes uncovered by this analysis were added to our kidney panel. We identified likely deleterious variants in 11 of 56 (20%) families. The kidney-gene analysis revealed likely deleterious variants in known kidney developmental genes in 6 fetuses and TMEM67 variants in 2 unrelated fetuses. Kidney histology was similar in the latter 2 fetuses-presenting a distinct prenatal form of nephronophthisis. Exome sequencing identified ROBO1 variants in one family and a GREB1L variant in another family. GREB1L and ROBO1 were added to our kidney-gene panel and additional variants were identified. Next-generation sequencing substantially contributes to identifying causes of fetal kidney anomalies. Genetic causes may be supported by histological examination of the kidneys. This is the first time that SLIT-ROBO signaling is implicated in human bilateral kidney agenesis.

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“…[ 8 ] Similarly “carriers” of MEN2 patients having renal agenesis have been described, who possibly show only one manifestation of the full spectrum of RET mutation effects. [ 10 ] Precise molecular mechanisms in such cases remain to be to be elucidated completely.…”

Section: Discussionmentioning

confidence: 99%

Bladder paraganglioma with renal agenesis: A possible new association and its implications in the light of REarranged in transfection gene genetics

et al. 2015

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Pheochromocytoma/paraganglioma and renal agenesis are commonly reported conditions. Their coexistence, however, is rare, with few cases reported. We report the case of a 21-year-old male who presented with painless hematuria. He was found to have congenital absent right kidney along with bladder mass on imaging. Examination including blood pressure was normal. He underwent cystoscopy that showed a solid looking tumor on the anterior wall. Paraganglioma was suspected due to intraoperative rise in blood pressure during resection and was confirmed on histopathology. Subsequently after work up and preoperative alpha blockade, patient underwent partial cystectomy and excision of the paravesical mass. Histopathology showed paraganglioma confined to bladder wall with surgical margins free and a paravesical mass that was seminal vesicle cyst. On follow-up, patient is normotensive and asymptomatic. This coexistence of paraganglioma and renal agenesis may have a common genetic mechanism in the form of REarranged in Transfection (RET) gene mutation. This is a well-characterized gene, mutations of which are known to be associated with both conditions. Current knowledge of the role of RET gene in both conditions is reviewed to put forth RET mutation as the possible common underlying genetic mechanism along with possible clinical implications of the combination.

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A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis

Cited by 11 publications

References 26 publications

Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with aRETmutation

Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with aRETmutation

Targeted gene sequencing and whole‐exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies

Bladder paraganglioma with renal agenesis: A possible new association and its implications in the light of REarranged in transfection gene genetics

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