A unique RET EXON 11 (G691S) polymorphism in an Indian patient with a collision tumor of the thyroid

Rekhi, Bharat; Badhe, Rupali; Desouza, Maria Alina; Chaukar, Devendra A; D'Cruz, Anil; Arya, Suprita; Kane, Shubhada

doi:10.1186/1746-1596-2-39

Cited by 7 publications

(3 citation statements)

References 25 publications

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“…However, the prevalence of the SNPs in the Indian group was significantly different from the data on European groups including Germans, Italians, French, Spanish and Hungarians (Griseri et al 2000;Bounacer et al 2002;Magalhães et al 2004;Baumgartner-Parzer et al 2005;Costa et al 2005;Bergant et al 2006;Fernandez et al 2006;Guerrero et al 2006;Gursoy et al 2006;Weinhaeusel et al 2008). The SNP in codon 691 has been demonstrated in a collision tumour of the thyroid in an Indian patient (Rekhi et al 2007). A metaanalysis of SNPs at the mentioned codons demonstrated differences of significantly increased percentages of the SNPs in our group (table 5) (Griseri et al 2000;Bounacer et al 2002;Magalhães et al 2004;Baumgartner-Parzer et al 2005;Costa et al 2005;Bergant et al 2006;Fernandez et al 2006;Guerrero et al 2006;Gursoy et al 2006;Weinhaeusel et al 2008).…”

Section: Discussionmentioning

confidence: 60%

RET gene mutations and polymorphisms in medullary thyroid carcinomas in Indian patients

Sharma

Saranath

2011

J Biosci

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Germline mutations of RET gene are pathognomonic of multiple endocrine neoplasia (MEN; MEN 2A/MEN 2B) and familial medullary thyroid carcinoma (FMTC), constituting 25% of medullary thyroid carcinomas (MTCs). We investigated RET gene mutations and polymorphisms at exons 10, 11, 13, 14, 15 and 16 in 140 samples, comprising 51 clinically diagnosed MTC patients, 39 family members of patients and 50 normal individuals. The method of choice was PCR and direct nucleotide sequencing of the PCR products. RET gene mutations were detected in 15 (29.4%) patients, with MEN 2A/FMTC in 13 patients and MEN 2B in 2 patients. Further, 39 family members of seven index cases were analysed, wherein four of the seven index cases showed identical mutations, in 13 of 25 family members. We also examined single nucleotide polymorphisms (SNPs) in RET gene exons in 101 unrelated samples. Significant differences in the allelic frequencies of SNPs at codons 691, 769, 836 and 904 between patient and control groups were not observed. However, SNP frequencies were significantly different in the Indian group as compared with other European groups. We identified two novel, rare and unique SNPs separately in single patients. Our study demonstrated presence of MEN 2A/MEN 2B/FMTC-associated mutations in accordance with the reported literature. Thus, RET gene mutations in exons 10, 11, 13, 14, 15 and 16 constitute a rapid test to confirm diagnosis and assess risk of the disease in familial MEN 2A/MEN 2B/FMTC.

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Section: Discussionmentioning

confidence: 60%

RET gene mutations and polymorphisms in medullary thyroid carcinomas in Indian patients

Sharma

Saranath

2011

J Biosci

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“…This extremely rare coexistence of follicular with papillary carcinoma was first reported in March 2013 [3], followed by a second case in the same year [1] followed by a case reported as minimally invasive follicular carcinoma with papillary microcarcinoma [6] Likewise, a single case of combined tall cell carcinoma and hurthle cell carcinoma also was reported in the literature [4], another case of co-occurring follicular carcinoma with papillary carcinoma and anaplastic carcinoma was reported in 2013 [5]. Moreover, there are 20 cases combining medullary and papillary carcinomas reported before [7][8][9]. There were also several reports of metastatic lesions appearing in conjunction with papillary carcinoma [10][11][12].…”

Section: Discussionmentioning

confidence: 99%

Collision tumor of the thyroid gland: Follicular carcinoma and papillary microcarcinoma

et al. 2022

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Collision tumor represents the proximal coexistence of two histologically distinct tumors. The combination of two different types of tumors in a single thyroid gland is extremely unusual. We reported a case of follicular carcinoma and papillary microcarcinoma occur independently as a primary tumor separated by a normal tissue in a 59-yearold Saudi female, presented at the clinic with goiter for two months duration without symptoms of thyroid hormonal disorders. This case is one of few cases to be reported as a combined follicular thyroid carcinoma and papillary thyroid carcinoma in English literature.

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“…Capsular invasion is present in 60% of the parathyroid carcinomas. They affect the surrounding skeletal muscle, thyroid gland [ 17 , 18 ] or other tissues. Vascular invasion is characterized by carcinoma cells present within vessels of the fibrous tumor capsule.…”

Section: Discussionmentioning

confidence: 99%

Intrathyroidal parathyroid carcinoma: a case report with clinical and histological findings

Sinowatz¹,

Hussein

Al-Sanea

et al. 2008

Diagn Pathol

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The chance of an intrathyroidal occurrence of a parathyroid gland is about 1–3%. Among the causes of hyperparathyroidism, parathyroid cases occur in less than 1% of patients. Here we present the case of a 63 year old Saudi female suffering from an intrathryroidal parathyroid carcinoma. The suspicion coming from the clinical investigations that the removed tumor tissue may be a parathyroid carcinoma could be confirmed by histology. Additionally non-radioactive in situ hybridization to localize mRNA transcripts for Cyclin D1 and immunohistochemical localization of Cyclin D1 was performed. Although parathyroid adenoma and carcinoma have disparate natural history, it can be difficult to differentiate between the two entities. Clinical presentation, operative findings may raise suspicion, but may not be conclusive especially if there is no evidence of invasion or metastasis, especially if the gland was intrathyroidal.

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A unique RET EXON 11 (G691S) polymorphism in an Indian patient with a collision tumor of the thyroid

Abstract: Background: Collision tumors of the thyroid are rare, with occasional reports dealing with their genetic analysis.

Cited by 7 publications

References 25 publications

RET gene mutations and polymorphisms in medullary thyroid carcinomas in Indian patients

RET gene mutations and polymorphisms in medullary thyroid carcinomas in Indian patients

Collision tumor of the thyroid gland: Follicular carcinoma and papillary microcarcinoma

Intrathyroidal parathyroid carcinoma: a case report with clinical and histological findings

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