Papillary thyroid carcinoma in one of identical twin patients with Pendred syndrome

Sakurai, Kazutoshi; Hata, Mitsumasa; Hishinuma, Akira; Ushijima, Ryo; Okada, Akiho; Taeda, Yoshinori; Arihara, Zenei; Fukazawa, Hiroshi; Takahashi, Kazuhiro

doi:10.1507/endocrj.ej12-0396

Cited by 19 publications

(7 citation statements)

References 23 publications

(12 reference statements)

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“…Similarly, Sakurai et al showed that identical twins with PDS can have different levels of progression [ 36 ]. Particularly, although both had thyroid nodules, one of the twins developed papillary thyroid carcinoma whereas the other twin’s nodules were benign [ 36 ]. Several studies showed that PDS nodules can progress to thyroid carcinoma [ 36 ].…”

Section: Discussionmentioning

confidence: 99%

“…Particularly, although both had thyroid nodules, one of the twins developed papillary thyroid carcinoma whereas the other twin’s nodules were benign [ 36 ]. Several studies showed that PDS nodules can progress to thyroid carcinoma [ 36 ]. This association was validated functionally by low SLC26A4 ’s mRNA expression and low immunostaining for pendrin in cancerous thyroid tumors [ 36 , 37 ].…”

Section: Discussionmentioning

confidence: 99%

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SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management

Tawalbeh

Aburizeg

Alragheb

et al. 2022

Genes

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SLC26A4 is one of the most common genes causing autosomal recessive non-syndromic sensorineural hearing loss (SNHL). It has been reported to cause Pendred Syndrome (PDS) and DFNB4 which is deafness with enlarged vestibular aqueduct (EVA). However, mutated SLC26A4 is not conclusive for having either DFNB4 or PDS. Three unrelated Jordanian families consisting of eight affected individuals with congenital bilateral hearing loss (HL) participated in this study. Whole-exome and Sanger sequencing were performed to investigate the underlying molecular etiology of HL. Further clinical investigations, including laboratory blood workup for the thyroid gland, CT scan for the temporal bone, and thyroid ultrasound were performed. Three disease-causing variants were identified in SLC26A4 in the three families, two of which were novel. Two families had a novel pathogenic homozygous splice-site accepter variant (c.165-1G>C), while the third family had compound heterozygous pathogenic variants (c.1446G>A; p.Trp482* and c.304G>A; p.Gly102Arg). Our approach helped in redirecting the diagnosis of several affected members of three different families from non-syndromic HL to syndromic HL. Two of the affected individuals had typical PDS, one had DFNB4, while the rest had atypical PDS. Our work emphasized the intra- and inter-familial variability of SLC26A4-related phenotypes. In addition, we highlighted the variable phenotypic impact of SLC26A4 on tailoring a personalized healthcare management.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management

Tawalbeh

Aburizeg

Alragheb

et al. 2022

Genes

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“…Recently, thyroid cancer complicated by DH stemming from variants of TG (96-100), TPO (101,102), NIS (103), and PDS (104, 105) have been reported (Table 4). These cancers can develop at various ages but are most common in middle-aged individuals and can be aggressive (91)(92)(93)(94)(95)(96)(97)(98)(99)(100)(101)(102)(103)(104)(105). Few cancer-driver gene variants have been identified in thyroid cancer associated with DH (Table 4), although the presence of such variants is generally required for carcinogenesis (106).…”

Section: Is There Any Cancer Risk Associated With Ch?mentioning

confidence: 99%

Knowns and unknowns about congenital hypothyroidism: 2022 update

Itonaga

Hasegawa

Higuchi

et al. 2023

Clin Pediatr Endocrinol

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Several excellent guidelines and expert opinions on congenital hypothyroidism (CH) are currently available. Nonetheless, these guidelines do not address several issues related to CH in detail.In this article, the authors chose the following seven clinical issues that they felt were especially deserving of closer scrutiny in the hope that drawing attention to them through discussion would help pediatric endocrinologists and promote further interest in the treatment of CH.1. How high should the levothyroxine (L-T4) dose be for initial treatment of severe and permanent CH?2. What is the optimal method for monitoring treatment of severe CH? 3. At what level does maternal iodine intake during pregnancy affect fetal and neonatal thyroid function? 4. Does serum thyroglobulin differ between patients with a dual oxidase 2 (DUOX2) variants and those with excess iodine? 5. Who qualifies for a genetic diagnosis? 6. What is the best index for distinguishing transient and permanent CH? 7. Is there any cancer risk associated with CH?The authors discussed these topics and jointly edited the manuscript to improve the understanding of CH and related issues.

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“…A loss of function mutation in SLC26A4 may disrupt iodine transport and result in goitre and hypothyroidism [146]. Additionally, follicular thyroid cancer, Hürthle cell adenoma, MNG, and fvPTC have been observed in families affected by Pendred syndrome [147][148][149][150]. Untreated congenital hypothyroidism, chronic stimulation by thyroidstimulating hormone, and additional genetic alterations may also be involved in the formation of thyroid cancer in pendred patients [145,149,151].…”

Section: Rare Syndromes Associated With Nmtcmentioning

confidence: 99%

Genetic susceptibility to hereditary non-medullary thyroid cancer

Kamani

Charkhchi

Zahedi

et al. 2022

Hered Cancer Clin Pract

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Non-medullary thyroid cancer (NMTC) is the most common type of thyroid cancer. With the increasing incidence of NMTC in recent years, the familial form of the disease has also become more common than previously reported, accounting for 5–15% of NMTC cases. Familial NMTC is further classified as non-syndromic and the less common syndromic FNMTC. Although syndromic NMTC has well-known genetic risk factors, the gene(s) responsible for the vast majority of non-syndromic FNMTC cases are yet to be identified. To date, several candidate genes have been identified as susceptibility genes in hereditary NMTC. This review summarizes genetic predisposition to non-medullary thyroid cancer and expands on the role of genetic variants in thyroid cancer tumorigenesis and the level of penetrance of NMTC-susceptibility genes.

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Papillary thyroid carcinoma in one of identical twin patients with Pendred syndrome

Cited by 19 publications

References 23 publications

SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management

SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management

Knowns and unknowns about congenital hypothyroidism: 2022 update

Genetic susceptibility to hereditary non-medullary thyroid cancer

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