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

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural deafness, a partial defect in iodide organification, and dyshormonogenetic goiter. Several cases of Pendred syndrome with follicular thyroid carcinomas were reported previously. Here we report identical twin patients...

Full description

Saved in:
Bibliographic Details
Published inEndocrine Journal Vol. 60; no. 6; pp. 805 - 811
Main Authors Sakurai, Kanako, Hata, Masahiro, Hishinuma, Akira, Ushijima, Ryo, Okada, Akiho, Taeda, Yoshinori, Arihara, Zenei, Fukazawa, Hiroshi, Takahashi, Kazuhiro
Format Journal Article
LanguageEnglish
Published Japan The Japan Endocrine Society 2013
Subjects
Adult
Carcinoma - complications
Carcinoma - diagnosis
Carcinoma, Papillary
Diseases in Twins - diagnosis
Dyshormonogenetic goiter
Goiter, Nodular - complications
Goiter, Nodular - diagnosis
Hearing Loss, Sensorineural - complications
Hearing Loss, Sensorineural - diagnosis
Humans
Male
Membrane Transport Proteins - genetics
Multinodular goiter
Papillary carcinoma
Pedigree
Pendred syndrome
Sulfate Transporters
Thyroid Cancer, Papillary
Thyroid Neoplasms - complications
Thyroid Neoplasms - diagnosis
Twins, Monozygotic
Online AccessGet full text

Cover

Abstract Pendred syndrome is an autosomal recessive disorder characterized by sensorineural deafness, a partial defect in iodide organification, and dyshormonogenetic goiter. Several cases of Pendred syndrome with follicular thyroid carcinomas were reported previously. Here we report identical twin patients with Pendred syndrome, who had thyroid tumors with distinct histopathological findings. 34-year-old identical twins with congenital deafness and goiter were referred to our hospital with complaint of neck discomfort. The genetic testing showed that these twin patients were compound heterozygotes carrying the same two mutations in the Pendred’s syndrome (PDS / SLC26A4) gene (c2168A > G and ins2110GCTGG), which confirmed the diagnoses of Pendred syndrome. They underwent thyroidectomy. Histological examination of the thyroid tumors resected from these twin patients revealed follicular variant of papillary thyroid carcinoma, and diffuse and nodular goiter without any evidence of malignancy, respectively. To our knowledge, the former is the first case of follicular variant of papillary thyroid carcinoma in Pendred Syndrome.
AbstractList Pendred syndrome is an autosomal recessive disorder characterized by sensorineural deafness, a partial defect in iodide organification, and dyshormonogenetic goiter. Several cases of Pendred syndrome with follicular thyroid carcinomas were reported previously. Here we report identical twin patients with Pendred syndrome, who had thyroid tumors with distinct histopathological findings. 34-year-old identical twins with congenital deafness and goiter were referred to our hospital with complaint of neck discomfort. The genetic testing showed that these twin patients were compound heterozygotes carrying the same two mutations in the Pendred’s syndrome (PDS / SLC26A4) gene (c2168A > G and ins2110GCTGG), which confirmed the diagnoses of Pendred syndrome. They underwent thyroidectomy. Histological examination of the thyroid tumors resected from these twin patients revealed follicular variant of papillary thyroid carcinoma, and diffuse and nodular goiter without any evidence of malignancy, respectively. To our knowledge, the former is the first case of follicular variant of papillary thyroid carcinoma in Pendred Syndrome.
Author Hishinuma, Akira
Ushijima, Ryo
Taeda, Yoshinori
Sakurai, Kanako
Hata, Masahiro
Fukazawa, Hiroshi
Takahashi, Kazuhiro
Okada, Akiho
Arihara, Zenei
Author_xml – sequence: 1
  fullname: Sakurai, Kanako
  organization: Department of Endocrinology and Metabolism, KKR Suifu Hospital, Mito 311-4141, Japan
– sequence: 2
  fullname: Hata, Masahiro
  organization: Department of Surgery, KKR Suifu Hospital, Mito 311-4141, Japan
– sequence: 3
  fullname: Hishinuma, Akira
  organization: Department of Infection Control and Clinical Laboratory Medicine, Dokkyo Medical University, Tochigi 321-0293, Japan
– sequence: 4
  fullname: Ushijima, Ryo
  organization: Department of Surgery, KKR Suifu Hospital, Mito 311-4141, Japan
– sequence: 5
  fullname: Okada, Akiho
  organization: Department of Surgery, KKR Suifu Hospital, Mito 311-4141, Japan
– sequence: 6
  fullname: Taeda, Yoshinori
  organization: Department of Surgery, KKR Suifu Hospital, Mito 311-4141, Japan
– sequence: 7
  fullname: Arihara, Zenei
  organization: Department of Endocrinology and Metabolism, KKR Suifu Hospital, Mito 311-4141, Japan
– sequence: 8
  fullname: Fukazawa, Hiroshi
  organization: Department of Endocrinology and Metabolism, KKR Suifu Hospital, Mito 311-4141, Japan
– sequence: 9
  fullname: Takahashi, Kazuhiro
  organization: Department of Endocrinology and Applied Medical Science, Tohoku University Graduate School of Medicine, Sendai 980-8575, Japan
BackLink https://www.ncbi.nlm.nih.gov/pubmed/23459462$$D View this record in MEDLINE/PubMed
BookMark eNo9kEtPAyEYRYmpsQ_9AW4MSzdTYWAeLE1Tq6aJTdQ1YYCxNDNDBZqm_14mrbPhS8j5LtwzBaPOdhqAe4zmOEPFk-6UlW43X77jNEGE5VdgggktE5pRNAITxHCZlCxjYzD1focQIRklN2CcEpoxmqcT8LkRe9M0wp1g2J6cNQpK4aTpbCug6WB8ENoaGqW7YKRoYDjG270IJl54eDRhCzfxH04r6E9x2lbfgutaNF7fXeYMfL8svxavyfpj9bZ4XieSsjIkSpV1bKEypkqklCgrVCCMpZIsViF1oTXTNcZEVSgtapTmqmKkzpGUGCPFyAw8nnP3zv4etA-8NV7q2KbT9uA5JgWhJCeMRBSfUems907XfO9MG1tzjHjvkl9c8t4l713GnYdL_KFqtRo2_uVFYHUGdj6IHz0AwkVVjR4ic8Tz_hiiB0JuhYsY-QP3KI4t
CitedBy_id crossref_primary_10_1016_j_endinu_2021_12_010
crossref_primary_10_1016_j_ando_2021_05_001
crossref_primary_10_1186_s13053_022_00215_3
crossref_primary_10_29254_2077_4214_2020_4_158_292_296
crossref_primary_10_1016_j_beem_2017_04_011
crossref_primary_10_1016_j_endien_2021_12_013
crossref_primary_10_3390_genes13122192
crossref_primary_10_1007_s12022_015_9413_4
crossref_primary_10_1297_cpe_2022_0016
crossref_primary_10_1136_bcr_2016_215271
Cites_doi 10.1002/(SICI)1096-9896(199905)188:1<87::AID-PATH322>3.0.CO;2-5
10.1210/jcem.87.7.8679
10.1002/1097-0142(19910415)67:8<2191::AID-CNCR2820670831>3.0.CO;2-B
10.1038/ncpendmet0621
10.1007/s12022-011-9170-y
10.1089/thy.2011.0478
10.1111/j.1469-1809.1964.tb00479.x
10.1515/JPEM.2008.21.12.1179
10.1210/jcem-52-2-294
10.1152/physrev.1992.72.3.667
10.1097/PAP.0b013e3181f8b028
10.1210/er.2004-0005
10.1016/S0140-6736(01)74403-0
10.1089/thy.2005.15.1079
10.1507/endocrj1954.34.955
10.1056/NEJM195807312590505
10.1089/105072501753211073
10.1017/S0022215100085571
10.1016/j.ando.2011.03.010
10.1210/jc.83.11.4162
10.1210/endo.141.2.7303
10.1097/00000658-195712000-00008
ContentType Journal Article
Copyright The Japan Endocrine Society
Copyright_xml – notice: The Japan Endocrine Society
DBID CGR
CUY
CVF
ECM
EIF
NPM
AAYXX
CITATION
7X8
DOI 10.1507/endocrj.EJ12-0396
DatabaseName Medline
MEDLINE
MEDLINE (Ovid)
MEDLINE
MEDLINE
PubMed
CrossRef
MEDLINE - Academic
DatabaseTitle MEDLINE
Medline Complete
MEDLINE with Full Text
PubMed
MEDLINE (Ovid)
CrossRef
MEDLINE - Academic
DatabaseTitleList
MEDLINE
Database_xml – sequence: 1
  dbid: NPM
  name: PubMed
  url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed
  sourceTypes: Index Database
– sequence: 2
  dbid: EIF
  name: MEDLINE
  url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search
  sourceTypes: Index Database
DeliveryMethod fulltext_linktorsrc
Discipline Medicine
EISSN 1348-4540
EndPage 811
ExternalDocumentID 10_1507_endocrj_EJ12_0396
23459462
article_endocrj_60_6_60_EJ12_0396_article_char_en
Genre Journal Article
Case Reports
GroupedDBID ---
.55
.GJ
29G
2WC
3O-
53G
5GY
5RE
AAEJM
AAUGY
ACPRK
ACRZS
ADBBV
AENEX
AJJEV
ALMA_UNASSIGNED_HOLDINGS
BAWUL
BKOMP
CS3
DIK
DU5
E3Z
EBD
EBS
EJD
EMOBN
F5P
JMI
JSF
JSH
KQ8
MOJWN
M~E
OK1
P2P
RJT
RNS
RZJ
SV3
TKC
TR2
X7M
XSB
ZGI
ZXP
CGR
CUY
CVF
ECM
EIF
NPM
AAYXX
CITATION
GROUPED_DOAJ
7X8
ID FETCH-LOGICAL-c498t-dd8f507d59d80dda8b07011cdc93963f7ee9ef113db027f026db93f60cc110d93
ISSN 0918-8959
IngestDate Fri Jun 28 17:15:04 EDT 2024
Fri Aug 23 00:42:49 EDT 2024
Thu May 23 23:53:03 EDT 2024
Thu Aug 17 20:29:58 EDT 2023
IsDoiOpenAccess true
IsOpenAccess true
IsPeerReviewed true
IsScholarly true
Issue 6
Language English
LinkModel OpenURL
MergedId FETCHMERGED-LOGICAL-c498t-dd8f507d59d80dda8b07011cdc93963f7ee9ef113db027f026db93f60cc110d93
Notes ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
OpenAccessLink https://www.jstage.jst.go.jp/article/endocrj/60/6/60_EJ12-0396/_article/-char/en
PMID 23459462
PQID 1373436393
PQPubID 23479
PageCount 7
ParticipantIDs proquest_miscellaneous_1373436393
crossref_primary_10_1507_endocrj_EJ12_0396
pubmed_primary_23459462
jstage_primary_article_endocrj_60_6_60_EJ12_0396_article_char_en
PublicationCentury 2000
PublicationDate 2013-00-00
PublicationDateYYYYMMDD 2013-01-01
PublicationDate_xml – year: 2013
  text: 2013-00-00
PublicationDecade 2010
PublicationPlace Japan
PublicationPlace_xml – name: Japan
PublicationTitle Endocrine Journal
PublicationTitleAlternate Endocr J
PublicationYear 2013
Publisher The Japan Endocrine Society
Publisher_xml – name: The Japan Endocrine Society
References 9. Yashiro T, Ito K, Akiba M, Kanaji Y, Obara T, et al. (1987) Papillary carcinoma of the thyroid arising from dyshormonogenetic goiter. Endocrinol Jpn 34: 955-964.
17. Dumont JE, Lamy F, Roger P, Maenhaut C (1992) Physiological and pathological regulation of thyroid cell proliferation and differentiation by thyrotropin and other factors. Physiol Rev 72: 667-697.
5. Fraser GR (1965) Association of Congenital Deafness with Goitre (Pendred’s Syndrome) a Study of 207 Families. Ann Hum Genet 28: 201-249.
11. Thieme ET (1957) A report of the occurrence of deaf-mutism and goiter in four of six siblings of a North American family. Ann Surg 146: 941-948.
14. Camargo R, Limbert E, Gillam M, Henriques MM, Fernandes C, et al. (2001) Aggressive metastatic follicular thyroid carcinoma with anaplastic transformation arising from a long-standing goiter in a patient with Pendred’s syndrome. Thyroid 11: 981-988.
22. Elisei R, Pinchera A, Romei C, Gryczynska M, Pohl V, et al. (1994) Expression of thyrotropin receptor (TSH-R), thyroglobulin, thyroperoxidase, and calcitonin messenger ribonucleic acids in thyroid carcinomas: evidence of TSH-R gene transcript in medullary histotype. J Clin Endocrinol Metab 78: 867-871.
21. Chertok Shacham E, Ishay A, Irit E, Pohlenz J, Tenenbaum-Rakover Y (2012) Minimally invasive follicular thyroid carcinoma developed in dyshormonogenetic multinodular goiter due to thyroid peroxidase gene mutation. Thyroid 22: 542-546.
12. Elman DS (1958) Familial association of nerve deafness with nodular goiter and thyroid carcinoma. N Engl J Med 259: 219-223.
4. Royaux IE, Suzuki K, Mori A, Katoh R, Everett LA, et al. (2000) Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells. Endocrinology 141: 839-845.
8. Cooper DS, Axelrod L, DeGroot LJ, Vickery AL, Jr., Maloof F (1981) Congenital goiter and the development of metastatic follicular carcinoma with evidence for a leak of nonhormonal iodide: clinical, pathological, kinetic, and biochemical studies and a review of the literature. J Clin Endocrinol Metab 52: 294-306.
1. Pendred V (1896) Deaf-mutism and goitre. Lancet ii: 532.
2. Kopp P, Bizhanova A (2011) Clinical and molecular characteristics of Pendred syndrome. Ann Endocrinol (Paris) 72: 88-94.
15. Banghova K, Cinek O, Al Taji E, Zapletalova J, Vidura R, et al. (2008) Thyroidectomy in a patient with multinodular dyshormonogenetic goitre--a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene. J Pediatr Endocrinol Metab 21: 1179-1184.
18. Krohn K, Maier J, Paschke R (2007) Mechanisms of disease: hydrogen peroxide, DNA damage and mutagenesis in the development of thyroid tumors. Nat Clin Pract Endocrinol Metab 3: 713-720.
7. Bhaijee F, Nikiforov YE (2011) Molecular analysis of thyroid tumors. Endocr Pathol 22: 126-133.
13. Abs R, Verhelst J, Schoofs E, De Somer E (1991) Hyperfunctioning metastatic follicular thyroid carcinoma in Pendred’s syndrome. Cancer 67: 2191-2193.
24. Xing M, Tokumaru Y, Wu G, Westra WB, Ladenson PW, et al. (2003) Hypermethylation of the Pendred syndrome gene SLC26A4 is an early event in thyroid tumorigenesis. Cancer Res 63: 2312-2315.
23. Sheils OM, Sweeney EC (1999) TSH receptor status of thyroid neoplasms--TaqMan RT-PCR analysis of archival material. J Pathol 188: 87-92.
19. Krohn K, Fuhrer D, Bayer Y, Eszlinger M, Brauer V, et al. (2005) Molecular pathogenesis of euthyroid and toxic multinodular goiter. Endocr Rev 26: 504-524.
20. Medeiros-Neto G, Gil-Da-Costa MJ, Santos CL, Medina AM, Silva JC, et al. (1998) Metastatic thyroid carcinoma arising from congenital goiter due to mutation in the thyroperoxidase gene. J Clin Endocrinol Metab 83: 4162-4166.
6. Nose V (2010) Thyroid cancer of follicular cell origin in inherited tumor syndromes. Adv Anat Pathol 17: 428-436.
16. Illum P (1978) Thyroid carcinoma in Pendred’s syndrome. J Laryngol Otol 92: 435-439.
3. Yoshida A, Taniguchi S, Hisatome I, Royaux IE, Green ED, et al. (2002) Pendrin is an iodide-specific apical porter responsible for iodide efflux from thyroid cells. J Clin Endocrinol Metab 87: 3356-3361.
10. Hishinuma A, Fukata S, Kakudo K, Murata Y, Ieiri T (2005) High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations. Thyroid 15: 1079-1084.
11
22
12
23
13
24
14
15
16
17
18
19
1
2
3
4
5
6
7
8
9
20
10
21
References_xml – ident: 23
  doi: 10.1002/(SICI)1096-9896(199905)188:1<87::AID-PATH322>3.0.CO;2-5
– ident: 3
  doi: 10.1210/jcem.87.7.8679
– ident: 13
  doi: 10.1002/1097-0142(19910415)67:8<2191::AID-CNCR2820670831>3.0.CO;2-B
– ident: 18
  doi: 10.1038/ncpendmet0621
– ident: 7
  doi: 10.1007/s12022-011-9170-y
– ident: 21
  doi: 10.1089/thy.2011.0478
– ident: 5
  doi: 10.1111/j.1469-1809.1964.tb00479.x
– ident: 15
  doi: 10.1515/JPEM.2008.21.12.1179
– ident: 8
  doi: 10.1210/jcem-52-2-294
– ident: 17
  doi: 10.1152/physrev.1992.72.3.667
– ident: 6
  doi: 10.1097/PAP.0b013e3181f8b028
– ident: 19
  doi: 10.1210/er.2004-0005
– ident: 1
  doi: 10.1016/S0140-6736(01)74403-0
– ident: 10
  doi: 10.1089/thy.2005.15.1079
– ident: 9
  doi: 10.1507/endocrj1954.34.955
– ident: 24
– ident: 12
  doi: 10.1056/NEJM195807312590505
– ident: 14
  doi: 10.1089/105072501753211073
– ident: 16
  doi: 10.1017/S0022215100085571
– ident: 2
  doi: 10.1016/j.ando.2011.03.010
– ident: 20
  doi: 10.1210/jc.83.11.4162
– ident: 4
  doi: 10.1210/endo.141.2.7303
– ident: 11
  doi: 10.1097/00000658-195712000-00008
– ident: 22
SSID ssj0033543
Score 2.072317
Snippet Pendred syndrome is an autosomal recessive disorder characterized by sensorineural deafness, a partial defect in iodide organification, and dyshormonogenetic...
SourceID proquest
crossref
pubmed
jstage
SourceType Aggregation Database
Index Database
Publisher
StartPage 805
SubjectTerms Adult
Carcinoma - complications
Carcinoma - diagnosis
Carcinoma, Papillary
Diseases in Twins - diagnosis
Dyshormonogenetic goiter
Goiter, Nodular - complications
Goiter, Nodular - diagnosis
Hearing Loss, Sensorineural - complications
Hearing Loss, Sensorineural - diagnosis
Humans
Male
Membrane Transport Proteins - genetics
Multinodular goiter
Papillary carcinoma
Pedigree
Pendred syndrome
Sulfate Transporters
Thyroid Cancer, Papillary
Thyroid Neoplasms - complications
Thyroid Neoplasms - diagnosis
Twins, Monozygotic
Title Papillary thyroid carcinoma in one of identical twin patients with Pendred syndrome
URI https://www.jstage.jst.go.jp/article/endocrj/60/6/60_EJ12-0396/_article/-char/en
https://www.ncbi.nlm.nih.gov/pubmed/23459462
https://search.proquest.com/docview/1373436393
Volume 60
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
ispartofPNX Endocrine Journal, 2013, Vol.60(6), pp.805-811
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3db9MwELdgIMQL4pvyJSPxBOpI4ny-gVDRNKlowCrtLfInS6smVdYKjb-eO9txO22TgJeosl079v18uTv77gh5K_PERBL2N1dxCQpKoceC5bDdK5PqSkYiU-jvPP2aH8zSw5PsZJuz1XqXrMW-_H2lX8n_UBXKgK7oJfsPlA2dQgH8BvrCEygMz7-i8RFfYdKgHiTI0_O-axQGmpZN2y052jG61hoEGuuLi7RY_9pGUvVubUcabzSqKyMXTFrVSfQOfL_7NmiO4YtN7_NY85Yvui0fc8LolJ_x06bflltL12bpjLiLpg8fgxlUzBtX8f282zVCOO_Rfe1YJkOTZOaCLg081eUI8NjZZZCldbK-zLgze1dD23nN9_UcL4wwl-t2h5CrpaVkwtKsSj0Xvxgte6i6SW4lBeh-eEz_LZwrMZalzJ9tw4gfLo2HsaF9DxcEldtzkNV_6uvVECuOHN8n97weQT85UDwgN3T7kNyZ-psSj8iPgA3qsUEDNmjTUsAG7QwN2KCIDTpggyI2qMcGHbDxmMy-TI4_H4x9Ao2xTKtyPVaqNDBNlVWqjJTipQAGH8dSyQrmykyhdaVNHDMloqQwoI4rUTGTR1KCVKgq9oTstfA-zwiNuFGpyfOCg4QdaewqMlKLRORSREqMyLthteqVi5NSo34Jw9d-levJYZzUuMoj8tGtZ2jqt1Bomkd1jo_wl9ACnRGh2Yi8GShRA0PEUy7e6m5zVsesYCkDwZuNyFNHojDMQNvn19a8IHcTm_AEjWwvyd663-hXIHauxWuLpD88bomh
link.rule.ids 315,786,790,4043,27956,27957,27958
linkProvider Colorado Alliance of Research Libraries
openUrl ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Papillary+thyroid+carcinoma+in+one+of+identical+twin+patients+with+Pendred+syndrome&rft.jtitle=Endocrine+journal&rft.au=Sakurai%2C+Kanako&rft.au=Hata%2C+Masahiro&rft.au=Hishinuma%2C+Akira&rft.au=Ushijima%2C+Ryo&rft.date=2013&rft.eissn=1348-4540&rft.volume=60&rft.issue=6&rft.spage=805&rft_id=info:doi/10.1507%2Fendocrj.ej12-0396&rft_id=info%3Apmid%2F23459462&rft.externalDocID=23459462
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0918-8959&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0918-8959&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0918-8959&client=summon