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

Rekhi B, Badhe RR, Desouza MA, Chaukar D, D'Cruz AK, Arya S, Kane SV - Diagn Pathol (2007)

Bottom Line: Radiological examination revealed nodular masses in the left lobe of her thyroid, along with one in the isthmus, extending into the right lobe and associated with enlarged neck nodes.Subsequently, she underwent radioablation.RET gene analysis of the patient, her 2 daughters and a grandson revealed a unique G691S polymorphism on Exon 11.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Pathology, Tata Memorial Hospital, Mumbai, Maharashtra, India. rekh.bharat@gmail.com

ABSTRACT

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

Case presentation: A 59 year old lady presented with a neck mass, associated with hoarseness of voice of 5 years duration. Radiological examination revealed nodular masses in the left lobe of her thyroid, along with one in the isthmus, extending into the right lobe and associated with enlarged neck nodes. FNAC from the left thyroid showed features of medullary carcinoma. On total thyroidectomy, 2 distinct tumor nodules were identified in the left lobe with another in the isthmus, showing features of medullary carcinoma (MTC), papillary carcinoma and follicular variant of papillary carcinoma, respectively, accompanied with nodal metastasis. Subsequently, she underwent radioablation. RET gene analysis of the patient, her 2 daughters and a grandson revealed a unique G691S polymorphism on Exon 11.

Conclusion: This unique case of a collision tumor of thyroid, including component of an MTC deals with the value of RET gene analysis and therapeutic implications in the index case and in family members.

No MeSH data available.


Related in: MedlinePlus

Pedigree of the family with the index case (arrow). Affected individuals (shaded dark) were heterozygous for the polymorphism.
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Figure 5: Pedigree of the family with the index case (arrow). Affected individuals (shaded dark) were heterozygous for the polymorphism.

Mentions: The patients' DNA revealed a polymorphism in the heterozygous form in the RET Proto-oncogene at the exon 11 codon 691, resulting in GGT to AGT conversion, substituting Glycine to Serine (Figure 3A, B). Among her children, who underwent the similar genetic screening, both her daughters revealed the similar polymorphism in heterozygous form. However, the daughters' only child was spared with this mutation. In addition, one of her grandson also revealed the same polymorphism in heterozygous form (Figure 4A, B, C, D). Her son escaped the polymorphism (Figure 5). A follow-up of the patient, her daughters and grandson was recommended.


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

Rekhi B, Badhe RR, Desouza MA, Chaukar D, D'Cruz AK, Arya S, Kane SV - Diagn Pathol (2007)

Pedigree of the family with the index case (arrow). Affected individuals (shaded dark) were heterozygous for the polymorphism.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2164940&req=5

Figure 5: Pedigree of the family with the index case (arrow). Affected individuals (shaded dark) were heterozygous for the polymorphism.
Mentions: The patients' DNA revealed a polymorphism in the heterozygous form in the RET Proto-oncogene at the exon 11 codon 691, resulting in GGT to AGT conversion, substituting Glycine to Serine (Figure 3A, B). Among her children, who underwent the similar genetic screening, both her daughters revealed the similar polymorphism in heterozygous form. However, the daughters' only child was spared with this mutation. In addition, one of her grandson also revealed the same polymorphism in heterozygous form (Figure 4A, B, C, D). Her son escaped the polymorphism (Figure 5). A follow-up of the patient, her daughters and grandson was recommended.

Bottom Line: Radiological examination revealed nodular masses in the left lobe of her thyroid, along with one in the isthmus, extending into the right lobe and associated with enlarged neck nodes.Subsequently, she underwent radioablation.RET gene analysis of the patient, her 2 daughters and a grandson revealed a unique G691S polymorphism on Exon 11.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Pathology, Tata Memorial Hospital, Mumbai, Maharashtra, India. rekh.bharat@gmail.com

ABSTRACT

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

Case presentation: A 59 year old lady presented with a neck mass, associated with hoarseness of voice of 5 years duration. Radiological examination revealed nodular masses in the left lobe of her thyroid, along with one in the isthmus, extending into the right lobe and associated with enlarged neck nodes. FNAC from the left thyroid showed features of medullary carcinoma. On total thyroidectomy, 2 distinct tumor nodules were identified in the left lobe with another in the isthmus, showing features of medullary carcinoma (MTC), papillary carcinoma and follicular variant of papillary carcinoma, respectively, accompanied with nodal metastasis. Subsequently, she underwent radioablation. RET gene analysis of the patient, her 2 daughters and a grandson revealed a unique G691S polymorphism on Exon 11.

Conclusion: This unique case of a collision tumor of thyroid, including component of an MTC deals with the value of RET gene analysis and therapeutic implications in the index case and in family members.

No MeSH data available.


Related in: MedlinePlus