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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

Microscopic findings. A. Cellular smears from left lobe showing tumor cells with eccentric nuclei, mostly dispersed singly with hyperchromatic nuclei. Giemsa staining 400 ×. B. Section from the left lobe nodule showing sheets of plasmacytoid cells (arrow) with 'salt and pepper-like' chromatin amidst amyloid (Am) stroma. H & E 200 ×. C. Section from second nodule showing nuclear features of PTC, including nuclear grooves and intranuclear inclusions (arrow). H & E 400 ×. D. Isthmic nodule showing features of FVPTC. H & E 200 ×. E. Nodal deposits from MTC. H & E 200 ×. F. Apple green birefringence of amyloid stroma. Alkaline Congo Red 200 ×. G. Positive thyroglobulin expression in PTC. DAB 400 ×. H. Calcitonin positivity in MTC. DAB × 200. I. Positive CEA expression in MTC. DAB × 400.
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Figure 2: Microscopic findings. A. Cellular smears from left lobe showing tumor cells with eccentric nuclei, mostly dispersed singly with hyperchromatic nuclei. Giemsa staining 400 ×. B. Section from the left lobe nodule showing sheets of plasmacytoid cells (arrow) with 'salt and pepper-like' chromatin amidst amyloid (Am) stroma. H & E 200 ×. C. Section from second nodule showing nuclear features of PTC, including nuclear grooves and intranuclear inclusions (arrow). H & E 400 ×. D. Isthmic nodule showing features of FVPTC. H & E 200 ×. E. Nodal deposits from MTC. H & E 200 ×. F. Apple green birefringence of amyloid stroma. Alkaline Congo Red 200 ×. G. Positive thyroglobulin expression in PTC. DAB 400 ×. H. Calcitonin positivity in MTC. DAB × 200. I. Positive CEA expression in MTC. DAB × 400.

Mentions: FNAC smears were hypercellular with oval to polygonal cells, singly dispersed, including binucleate and plasmacytoid forms. Cells exhibited moderate amount of granular cytoplasm and 'salt and pepper' like nuclear chromatin. Few tumor giant cell forms were also noted. A diagnosis of a medullary carcinoma thyroid was rendered (Figure 2A).


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)

Microscopic findings. A. Cellular smears from left lobe showing tumor cells with eccentric nuclei, mostly dispersed singly with hyperchromatic nuclei. Giemsa staining 400 ×. B. Section from the left lobe nodule showing sheets of plasmacytoid cells (arrow) with 'salt and pepper-like' chromatin amidst amyloid (Am) stroma. H & E 200 ×. C. Section from second nodule showing nuclear features of PTC, including nuclear grooves and intranuclear inclusions (arrow). H & E 400 ×. D. Isthmic nodule showing features of FVPTC. H & E 200 ×. E. Nodal deposits from MTC. H & E 200 ×. F. Apple green birefringence of amyloid stroma. Alkaline Congo Red 200 ×. G. Positive thyroglobulin expression in PTC. DAB 400 ×. H. Calcitonin positivity in MTC. DAB × 200. I. Positive CEA expression in MTC. DAB × 400.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 2: Microscopic findings. A. Cellular smears from left lobe showing tumor cells with eccentric nuclei, mostly dispersed singly with hyperchromatic nuclei. Giemsa staining 400 ×. B. Section from the left lobe nodule showing sheets of plasmacytoid cells (arrow) with 'salt and pepper-like' chromatin amidst amyloid (Am) stroma. H & E 200 ×. C. Section from second nodule showing nuclear features of PTC, including nuclear grooves and intranuclear inclusions (arrow). H & E 400 ×. D. Isthmic nodule showing features of FVPTC. H & E 200 ×. E. Nodal deposits from MTC. H & E 200 ×. F. Apple green birefringence of amyloid stroma. Alkaline Congo Red 200 ×. G. Positive thyroglobulin expression in PTC. DAB 400 ×. H. Calcitonin positivity in MTC. DAB × 200. I. Positive CEA expression in MTC. DAB × 400.
Mentions: FNAC smears were hypercellular with oval to polygonal cells, singly dispersed, including binucleate and plasmacytoid forms. Cells exhibited moderate amount of granular cytoplasm and 'salt and pepper' like nuclear chromatin. Few tumor giant cell forms were also noted. A diagnosis of a medullary carcinoma thyroid was rendered (Figure 2A).

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