Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case
We report a rare case with pheochromocytoma as the first manifestation of multiple endocrine neoplasia type 2A with RET mutation S891A. Bilateral pheochromocytomas were identified in a 54-year-old woman. Screening for RET revealed a rare S891A mutation located in the intracellular tyrosine kinase do...
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| Veröffentlicht in: | Surgery today (Tokyo, Japan) Japan), 2014-11, Vol.44 (11), p.2195-2200 |
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| creator | Hibi, Yatsuka Ohye, Tamae Ogawa, Kimio Shimizu, Yoshimi Shibata, Masahiro Kagawa, Chikara Mizuno, Yutaka Uchino, Shinya Kosugi, Shinji Kurahashi, Hiroki Iwase, Katsumi |
| description | We report a rare case with pheochromocytoma as the first manifestation of multiple endocrine neoplasia type 2A with
RET
mutation S891A. Bilateral pheochromocytomas were identified in a 54-year-old woman. Screening for RET revealed a rare S891A mutation located in the intracellular tyrosine kinase domain. This mutation was previously recognized as one of the mutations only in cases manifesting solely medullary thyroid carcinomas (MTCs). Since calcitonin stimulation test indicated positive result, total thyroidectomy was performed 1 year after the bilateral adrenalectomy, and C-cell hyperplasia was diagnosed by histopathological examination. Our report suggests that cases with S891A mutation, akin to those with other
RET
mutations, require screening for pheochromocytoma. In addition, it is indicated that calcitonin stimulation test should be performed even in the unaffected elder cases with S891A mutation although the mutation is classified as lowest risk group on MTC in guidelines. |
| doi_str_mv | 10.1007/s00595-013-0826-8 |
| format | Article |
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RET
mutation S891A. Bilateral pheochromocytomas were identified in a 54-year-old woman. Screening for RET revealed a rare S891A mutation located in the intracellular tyrosine kinase domain. This mutation was previously recognized as one of the mutations only in cases manifesting solely medullary thyroid carcinomas (MTCs). Since calcitonin stimulation test indicated positive result, total thyroidectomy was performed 1 year after the bilateral adrenalectomy, and C-cell hyperplasia was diagnosed by histopathological examination. Our report suggests that cases with S891A mutation, akin to those with other
RET
mutations, require screening for pheochromocytoma. In addition, it is indicated that calcitonin stimulation test should be performed even in the unaffected elder cases with S891A mutation although the mutation is classified as lowest risk group on MTC in guidelines.</description><identifier>ISSN: 0941-1291</identifier><identifier>EISSN: 1436-2813</identifier><identifier>DOI: 10.1007/s00595-013-0826-8</identifier><identifier>PMID: 24449023</identifier><language>eng</language><publisher>Tokyo: Springer Japan</publisher><subject>Adrenal Gland Neoplasms - diagnosis ; Adrenal Gland Neoplasms - genetics ; Adrenal Gland Neoplasms - pathology ; Adrenal Gland Neoplasms - surgery ; Adrenalectomy ; Calcitonin ; Case Report ; Diagnostic Imaging ; Female ; Humans ; Medicine ; Medicine & Public Health ; Middle Aged ; Multiple Endocrine Neoplasia ; Multiple Endocrine Neoplasia Type 2a - diagnosis ; Multiple Endocrine Neoplasia Type 2a - genetics ; Multiple Endocrine Neoplasia Type 2a - pathology ; Multiple Endocrine Neoplasia Type 2a - surgery ; Mutation ; Pedigree ; Pheochromocytoma - diagnosis ; Pheochromocytoma - genetics ; Pheochromocytoma - pathology ; Pheochromocytoma - surgery ; Protein Structure, Tertiary - genetics ; Protein-Tyrosine Kinases - chemistry ; Protein-Tyrosine Kinases - genetics ; Proto-Oncogene Proteins c-ret - genetics ; Surgery ; Surgical Oncology ; Thyroid Function Tests - methods ; Thyroid Neoplasms - diagnosis ; Thyroid Neoplasms - genetics ; Thyroid Neoplasms - pathology ; Thyroid Neoplasms - surgery ; Thyroidectomy</subject><ispartof>Surgery today (Tokyo, Japan), 2014-11, Vol.44 (11), p.2195-2200</ispartof><rights>The Author(s) 2014</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c536t-983787747fda35b10fed3bddc911fd566cabf5286f4c6be38dcb0ea6b6e0322c3</citedby><cites>FETCH-LOGICAL-c536t-983787747fda35b10fed3bddc911fd566cabf5286f4c6be38dcb0ea6b6e0322c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00595-013-0826-8$$EPDF$$P50$$Gspringer$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00595-013-0826-8$$EHTML$$P50$$Gspringer$$Hfree_for_read</linktohtml><link.rule.ids>230,314,776,780,881,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24449023$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hibi, Yatsuka</creatorcontrib><creatorcontrib>Ohye, Tamae</creatorcontrib><creatorcontrib>Ogawa, Kimio</creatorcontrib><creatorcontrib>Shimizu, Yoshimi</creatorcontrib><creatorcontrib>Shibata, Masahiro</creatorcontrib><creatorcontrib>Kagawa, Chikara</creatorcontrib><creatorcontrib>Mizuno, Yutaka</creatorcontrib><creatorcontrib>Uchino, Shinya</creatorcontrib><creatorcontrib>Kosugi, Shinji</creatorcontrib><creatorcontrib>Kurahashi, Hiroki</creatorcontrib><creatorcontrib>Iwase, Katsumi</creatorcontrib><title>Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case</title><title>Surgery today (Tokyo, Japan)</title><addtitle>Surg Today</addtitle><addtitle>Surg Today</addtitle><description>We report a rare case with pheochromocytoma as the first manifestation of multiple endocrine neoplasia type 2A with
RET
mutation S891A. Bilateral pheochromocytomas were identified in a 54-year-old woman. Screening for RET revealed a rare S891A mutation located in the intracellular tyrosine kinase domain. This mutation was previously recognized as one of the mutations only in cases manifesting solely medullary thyroid carcinomas (MTCs). Since calcitonin stimulation test indicated positive result, total thyroidectomy was performed 1 year after the bilateral adrenalectomy, and C-cell hyperplasia was diagnosed by histopathological examination. Our report suggests that cases with S891A mutation, akin to those with other
RET
mutations, require screening for pheochromocytoma. In addition, it is indicated that calcitonin stimulation test should be performed even in the unaffected elder cases with S891A mutation although the mutation is classified as lowest risk group on MTC in guidelines.</description><subject>Adrenal Gland Neoplasms - diagnosis</subject><subject>Adrenal Gland Neoplasms - genetics</subject><subject>Adrenal Gland Neoplasms - pathology</subject><subject>Adrenal Gland Neoplasms - surgery</subject><subject>Adrenalectomy</subject><subject>Calcitonin</subject><subject>Case Report</subject><subject>Diagnostic Imaging</subject><subject>Female</subject><subject>Humans</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Middle Aged</subject><subject>Multiple Endocrine Neoplasia</subject><subject>Multiple Endocrine Neoplasia Type 2a - diagnosis</subject><subject>Multiple Endocrine Neoplasia Type 2a - genetics</subject><subject>Multiple Endocrine Neoplasia Type 2a - pathology</subject><subject>Multiple Endocrine Neoplasia Type 2a - surgery</subject><subject>Mutation</subject><subject>Pedigree</subject><subject>Pheochromocytoma - diagnosis</subject><subject>Pheochromocytoma - genetics</subject><subject>Pheochromocytoma - pathology</subject><subject>Pheochromocytoma - surgery</subject><subject>Protein Structure, Tertiary - genetics</subject><subject>Protein-Tyrosine Kinases - chemistry</subject><subject>Protein-Tyrosine Kinases - genetics</subject><subject>Proto-Oncogene Proteins c-ret - genetics</subject><subject>Surgery</subject><subject>Surgical Oncology</subject><subject>Thyroid Function Tests - methods</subject><subject>Thyroid Neoplasms - diagnosis</subject><subject>Thyroid Neoplasms - genetics</subject><subject>Thyroid Neoplasms - pathology</subject><subject>Thyroid Neoplasms - surgery</subject><subject>Thyroidectomy</subject><issn>0941-1291</issn><issn>1436-2813</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>EIF</sourceid><recordid>eNp9kcFu1DAURS1ERYfSD2CDvGST8p7tOA4LpFE1FKSWVrTd1nIcu0k1iQfboerfk9EMVdmw8uKed-3nQ8h7hBMEqD4lgLIuC0BegGKyUK_IAgWXBVPIX5MF1AILZDUekrcpPQAwoQDekEMmhKiB8QW5u-pcsF0MQ7BPOQyGmkRz56jvY8p0MGPvXcom92GkwdOL1Q-2pI997ujP1Q0dpn10rWpcfqbRbULMW9BQa5J7Rw68WSd3vD-PyO3X1c3pt-L88uz76fK8sCWXuagVr1RVicq3hpcNgnctb9rW1oi-LaW0pvElU9ILKxvHVWsbcEY20gFnzPIj8mXXu5mawbXWjTmatd7EfjDxSQfT63-Tse_0ffitBdYCEOaCj_uCGH5N88Z66JN167UZXZiSRolQlUpWOKO4Q20MKUXnn69B0FsveudFz1701otW88yHl-97nvgrYgbYDkhzNN67qB_CFMf5z_7T-gcYMJlO</recordid><startdate>20141101</startdate><enddate>20141101</enddate><creator>Hibi, Yatsuka</creator><creator>Ohye, Tamae</creator><creator>Ogawa, Kimio</creator><creator>Shimizu, Yoshimi</creator><creator>Shibata, Masahiro</creator><creator>Kagawa, Chikara</creator><creator>Mizuno, Yutaka</creator><creator>Uchino, Shinya</creator><creator>Kosugi, Shinji</creator><creator>Kurahashi, Hiroki</creator><creator>Iwase, Katsumi</creator><general>Springer Japan</general><scope>C6C</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20141101</creationdate><title>Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case</title><author>Hibi, Yatsuka ; Ohye, Tamae ; Ogawa, Kimio ; Shimizu, Yoshimi ; Shibata, Masahiro ; Kagawa, Chikara ; Mizuno, Yutaka ; Uchino, Shinya ; Kosugi, Shinji ; Kurahashi, Hiroki ; Iwase, Katsumi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c536t-983787747fda35b10fed3bddc911fd566cabf5286f4c6be38dcb0ea6b6e0322c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adrenal Gland Neoplasms - diagnosis</topic><topic>Adrenal Gland Neoplasms - genetics</topic><topic>Adrenal Gland Neoplasms - pathology</topic><topic>Adrenal Gland Neoplasms - surgery</topic><topic>Adrenalectomy</topic><topic>Calcitonin</topic><topic>Case Report</topic><topic>Diagnostic Imaging</topic><topic>Female</topic><topic>Humans</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Middle Aged</topic><topic>Multiple Endocrine Neoplasia</topic><topic>Multiple Endocrine Neoplasia Type 2a - diagnosis</topic><topic>Multiple Endocrine Neoplasia Type 2a - genetics</topic><topic>Multiple Endocrine Neoplasia Type 2a - pathology</topic><topic>Multiple Endocrine Neoplasia Type 2a - surgery</topic><topic>Mutation</topic><topic>Pedigree</topic><topic>Pheochromocytoma - diagnosis</topic><topic>Pheochromocytoma - genetics</topic><topic>Pheochromocytoma - pathology</topic><topic>Pheochromocytoma - surgery</topic><topic>Protein Structure, Tertiary - genetics</topic><topic>Protein-Tyrosine Kinases - chemistry</topic><topic>Protein-Tyrosine Kinases - genetics</topic><topic>Proto-Oncogene Proteins c-ret - genetics</topic><topic>Surgery</topic><topic>Surgical Oncology</topic><topic>Thyroid Function Tests - methods</topic><topic>Thyroid Neoplasms - diagnosis</topic><topic>Thyroid Neoplasms - genetics</topic><topic>Thyroid Neoplasms - pathology</topic><topic>Thyroid Neoplasms - surgery</topic><topic>Thyroidectomy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hibi, Yatsuka</creatorcontrib><creatorcontrib>Ohye, Tamae</creatorcontrib><creatorcontrib>Ogawa, Kimio</creatorcontrib><creatorcontrib>Shimizu, Yoshimi</creatorcontrib><creatorcontrib>Shibata, Masahiro</creatorcontrib><creatorcontrib>Kagawa, Chikara</creatorcontrib><creatorcontrib>Mizuno, Yutaka</creatorcontrib><creatorcontrib>Uchino, Shinya</creatorcontrib><creatorcontrib>Kosugi, Shinji</creatorcontrib><creatorcontrib>Kurahashi, Hiroki</creatorcontrib><creatorcontrib>Iwase, Katsumi</creatorcontrib><collection>Springer Nature OA Free Journals</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Surgery today (Tokyo, Japan)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hibi, Yatsuka</au><au>Ohye, Tamae</au><au>Ogawa, Kimio</au><au>Shimizu, Yoshimi</au><au>Shibata, Masahiro</au><au>Kagawa, Chikara</au><au>Mizuno, Yutaka</au><au>Uchino, Shinya</au><au>Kosugi, Shinji</au><au>Kurahashi, Hiroki</au><au>Iwase, Katsumi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case</atitle><jtitle>Surgery today (Tokyo, Japan)</jtitle><stitle>Surg Today</stitle><addtitle>Surg Today</addtitle><date>2014-11-01</date><risdate>2014</risdate><volume>44</volume><issue>11</issue><spage>2195</spage><epage>2200</epage><pages>2195-2200</pages><issn>0941-1291</issn><eissn>1436-2813</eissn><abstract>We report a rare case with pheochromocytoma as the first manifestation of multiple endocrine neoplasia type 2A with
RET
mutation S891A. Bilateral pheochromocytomas were identified in a 54-year-old woman. Screening for RET revealed a rare S891A mutation located in the intracellular tyrosine kinase domain. This mutation was previously recognized as one of the mutations only in cases manifesting solely medullary thyroid carcinomas (MTCs). Since calcitonin stimulation test indicated positive result, total thyroidectomy was performed 1 year after the bilateral adrenalectomy, and C-cell hyperplasia was diagnosed by histopathological examination. Our report suggests that cases with S891A mutation, akin to those with other
RET
mutations, require screening for pheochromocytoma. In addition, it is indicated that calcitonin stimulation test should be performed even in the unaffected elder cases with S891A mutation although the mutation is classified as lowest risk group on MTC in guidelines.</abstract><cop>Tokyo</cop><pub>Springer Japan</pub><pmid>24449023</pmid><doi>10.1007/s00595-013-0826-8</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adrenal Gland Neoplasms - diagnosis Adrenal Gland Neoplasms - genetics Adrenal Gland Neoplasms - pathology Adrenal Gland Neoplasms - surgery Adrenalectomy Calcitonin Case Report Diagnostic Imaging Female Humans Medicine Medicine & Public Health Middle Aged Multiple Endocrine Neoplasia Multiple Endocrine Neoplasia Type 2a - diagnosis Multiple Endocrine Neoplasia Type 2a - genetics Multiple Endocrine Neoplasia Type 2a - pathology Multiple Endocrine Neoplasia Type 2a - surgery Mutation Pedigree Pheochromocytoma - diagnosis Pheochromocytoma - genetics Pheochromocytoma - pathology Pheochromocytoma - surgery Protein Structure, Tertiary - genetics Protein-Tyrosine Kinases - chemistry Protein-Tyrosine Kinases - genetics Proto-Oncogene Proteins c-ret - genetics Surgery Surgical Oncology Thyroid Function Tests - methods Thyroid Neoplasms - diagnosis Thyroid Neoplasms - genetics Thyroid Neoplasms - pathology Thyroid Neoplasms - surgery Thyroidectomy |
| title | Pheochromocytoma as the first manifestation of MEN2A with RET mutation S891A: report of a case |
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