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preLekára.sk / Journals / Czecho-Slovak Pathology / 2023 - 3

Tall cell carcinoma of the breast with reversed polarity - a report of three cases with a review of the literature

Česká verzia

Authors: Karol Kajo 1,2;  Mojmír Ducár 2;  Ján Dzuracký 3;  Katarína Kajová Macháleková 1,2;  Miroslava Vallová 1;  Csaba Biró 1;  Lukáš Šebest 4;  Tomáš Slamka 4;  Regína Behulová Lohajová 4;  Pavol Žúbor 5
Authors place of work: Ústav patológie OÚSA, s. r. o., Bratislava 1;  Unilabs Slovensko, s. r. o., Diagnostické centrum patológie, Banská Bystrica 2;  Oddelenie patologickej anatómie, Nemocnica Poprad, a. s., Poprad 3;  Oddelenie lekárskej genetiky OÚSA, s. r. o., Bratislava 4;  OBGY Health & Care s. r. o., Žilina 5
Published in the journal: Čes.-slov. Patol., 59, 2023, No. 3, p. 132-138
Category: Original Article

Summary

Tall cell carcinoma with reverse polarity (TCCRP) is a rare special type of breast epithelial neoplasm presented by columnar cells with opposite nuclear polarity, solid and solid-papillary architecture, and frequent IDH2 gene alterations.

Hereby, the authors present three cases of TCCRP in women aged 56, 66 and 67 years with maximum tumour sizes of 29 mm, 10 mm and 8 mm. Tumours showed histomorphological characteristics of TCCRP supported by immunohistochemical profile of tumour cells, in which positive expression of CK7, CK5/6, GCDFP15, mammaglobin, GATA3 and calretinin and negativity of CK14, p63, TTF1, thyroglobulin and neuroendocrine markers were demonstrated. Two tumours were triple negative, and in one tumour, only weak focal ER expression was noted along with PR and HER2 negativity.

Pathogenic somatic variants in mutational hotspot region p.R172 in IDH2 gene were detected using NGS technology in all three tumours. Moreover, in two of these tumours, the most common pathogenic variants p.E545A and p.H1047R of PIK3CA were identified.

TCCRP represents a rare breast neoplasm of low malignant potential, the incidence of which will probably increase due to the more clearly defined histomorphological, immunohistochemical and molecular-genetic characteristics, which were all responsible for including this entity into the 5th edition of WHO classification breast tumours.

Keywords:

immunohistochemistry – Mutation – breast – tall cell carcinoma – nuclear polarity – IDH2

Zdroje
  1. WHO Classification of Tumours Editorial Board. Breast Tumours; 5th ed.; vol.2. Lyon (France): International Agency for Research on Cancer; 2019.
  2. Eusebi V, Damiani S, Ellis IO, Azzopardi JG, Rosai J. Breast tumor resembling the tall cell variant of papillary thyroid carcinoma: report of 5 cases. Am J Surg Pathol 2003; 27(8): 1114-1118.
  3. Hameed O, Perry A, Banerjee R, Zhu X, Pfeifer JD. Papillary carcinoma of the breast lacks evidence of RET rearrangements despite morphological similarities to papillary thyroid carcinoma. Mod Pathol 2009; 22(9):1236-1242.
  4. Zhong E, Scognamiglio T, D’Alfonso T, Song W, Tran H, Baek I, Hoda SA. Breast tumor resembling the tall cell variant of papillary thyroid carcinoma: Molecular characterization by next-generation sequencing and histopathological comparison with tall cell papillary carcinoma of thyroid. Int J Surg Pathol 2019; 27(2): 134-141.
  5. Masood S, Davis C, Kubik MJ. Changing the term “breast tumor resembling the tall cell variant of papillary thyroid carcinoma” to “tall cell variant of papillary breast carcinoma”. Adv Anat Pathol 2012; 19(2): 108-110.
  6. Chiang S, Weigelt B, Wen HC, et al. IDH2 mutations define a unique subtype of breast cancer with altered nuclear polarity. Cancer Res 2016; 76(24): 7118-7129.
  7. Alsadoun N, MacGrogan G, Truntzer C, et al. Solid papillary carcinoma with reverse polarity of the breast harbors specific morphologic, immunohistochemical and molecular profile in comparison with other benign or malignant papillary lesions of the breast: a comparative study of 9 additional cases. Mod Pathol 2018; 31(9): 1367-1380.
  8. Lozada JR, Basili T, Pareja F, et al. Solid papillary breast carcinomas resembling the tall cell variant of papillary thyroid neoplasms (solid papillary carcinomas with reverse polarity) harbour recurrent mutations affecting IDH2 and PIK3CA: a validation cohort. Histopathology 2018; 73(2): 339-344.
  9. Lebeau A, Denkert C. Aktualisierte WHO-Klassifikation der Tumoren der Mamma: Die wichtigsten Änderungen [Updated WHO classification of tumors of the breast: the most important changes]. Pathologe 2021; 42(3): 270-280.
  10. Trihia HJ, Lampropoulos P, Karelis L, Souka E, Galanopoulos G, Provatas I. Tall cell carcinoma with reversed polarity: A case report of a very rare breast tumor entity and mini review. Breast J 2021; 27(4): 369-376.
  11. den Dunnen JT, Dalgleish R, Maglott DR, et al. HGVS recommendations for the description of sequence variants: 2016 update. Hum Mutat 2016; 37(6): 564-569.
  12. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med 2015; 17(5): 405–423.
  13. Li MM, Datto M, Duncavage EJ, Kulkarni S, et al. Standards and guidelines for the interpretation and reporting of sequence variants in cancer: A joint consensus recommendation of the Association for molecular pathology, American society of clinical oncology, and College of american pathologists. J Mol Diagn 2017; 19(1): 4-23.
  14. Landrum MJ, Lee JM, Benson M, et al. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res 2018; 46(D1): D1062–D1067.
  15. Tate JG, Bamford S, Jubb HC, et al. COSMIC: The catalogue of somatic mutations in cancer. Nucleic Acids Res 2019; 47(D1): D941-D947.
  16. Patterson SE, Liu R, Statz CM, Durkin D, Lakshminarayana A, Mockus SM. The clinical trial landscape in oncology and connectivity of somatic mutational profiles to targeted therapies. Hum Genomics 2016; 10: 4.
  17. Wei Y, Ding L, Song X, et al. Tall cell carcinoma with reversed polarity: case report with gene sequencing and literature review. Gland Surg 2021; 10(11): 3147-3154.
  18. Tan PH, Ellis I, Allison K, et al. WHO Classification of Tumours Editorial Board. The 2019 World Health Organization classification of tumours of the breast. Histopathology 2020; 77(2): 181-185.
  19. Jassim M, Premalata CS, Okaly G, Srinivas C. Tall cell carcinoma with reverse polarity of breast: Report of a case with unique morphologic and molecular features. Turk Patoloji Derg 2021; 37(2): 183-188.
  20. Zhang X, Wu H, Wang Z, Zhou Y, Mao F, Lin Y, Shen S, Liang Z, Sun Q. Tall cell carcinoma of the breast with reverse polarity: case report with gene sequencing and literature review. Gland Surg 2021; 10(2):837-843.
  21. Cima L, Kaya H, Marchiò C, Nishimura R, Wen HY, Fabbri VP, Foschini MP. Triple-negative breast carcinomas of low malignant potential: review on diagnostic criteria and differential diagnoses. Virchows Arch 2022; 480(1): 109-126.
  22. Chang SY, Fleiszer DM, Mesurolle B, El Khoury M, Omeroglu A. Breast tumor resembling the tall cell variant of papillary thyroid carcinoma. Breast J 2009; 15(5):531-535.
  23. Schnitt SJ, Fend F, Decker T. Breast carcinomas of low malignant potential. Virchows Arch 2022; 480(1): 5-19.
  24. Foschini MP, Asioli S, Foreid S, Cserni G, Ellis IO, Eusebi V, Rosai J. Solid Papillary Breast Carcinomas Resembling the Tall Cell Variant of Papillary Thyroid Neoplasms: A Unique Invasive Tumor With Indolent Behavior. Am J Surg Pathol 2017; 41(7): 887-895.
  25. Cameselle-Teijeiro J, Abdulkader I, Barreiro-Morandeira F, Ruiz-Ponte C, ReyesSantías R, Chavez E, Sobrinho-Simões M. Breast tumor resembling the tall cell variant of papillary thyroid carcinoma: a case report. Int J Surg Pathol 2006; 14(1): 79-84.
  26. Tosi AL, Ragazzi M, Asioli S, Del Vecchio M, Cavalieri M, Eusebi LH, Foschini MP. Breast tumor resembling the tall cell variant of papillary thyroid carcinoma: report of 4 cases with evidence of malignant potential. Int J Surg Pathol 2007; 15(1): 14-19.
  27. Haefliger S, Muenst S, Went P, Bihl M, Dellas S, Weber WP, Vlajnic T. Tall cell carcinoma of the breast with reversed polarity (TCCRP) with mutations in the IDH2 and PIK3CA genes: a case report. Mol Biol Rep 2020; 47(6): 4917-4921.
  28. Villegas SL, Nekljudova V, Pfarr N, et al. Therapy response and prognosis of patients with early breast cancer with low positivity for hormone receptors An analysis of 2765 patients from neoadjuvant clinical trials. Eur J Cancer 2021; 148: 159-170.
  29. Pareja F, da Silva EM, Frosina D, et al. Immunohistochemical analysis of IDH2 R172 hotspot mutations in breast papillary neoplasms: applications in the diagnosis of tall cell carcinoma with reverse polarity. Mod Pathol 2020; 33(6): 1056-1064.
  30. Shea EKH, Koh VCY, Tan PH. Invasive breast cancer: Current perspectives and emerging views. Pathol Int 2020; 70(5): 242-252.
  31. Marotti JD, Schnitt SJ. Genotype-Phenotype Correlations in Breast Cancer. Surg Pathol Clin 2018; 11(1): 199-211.
  32. Bhargava R, Florea AV, Pelmus M, Jones MW, Bonaventura M, Wald A, Nikiforova M. Breast Tumor Resembling Tall Cell Variant of Papillary Thyroid Carcinoma: A Solid Papillary Neoplasm with Characteristic Immunohistochemical Profile and Few Recurrent Mutations. Am J Clin Pathol 2017; 147(4): 399-410.
  33. Cimino-Mathews A. Novel uses of immunohistochemistry in breast pathology: interpretation and pitfalls. Mod Pathol 2021; 34(Suppl1): 62-77.
  34. Sasaki E, Iwakoshi A, Satake T, et al. The Diagnostic Utility of IDH2 R172 immunohistochemistry in tall cell carcinoma with reversed polarity of the breast. Appl Immunohistochem Mol Morphol 2022; 30(10): 654-661.
  35. Matute G, Barcenas L, Bautista C, Restrepo Ramirez CA, Llinas Quintero N. Tall cell carcinoma with reversed polarity of the breast. Cureus 2021; 13(8): e16814.
  36. Eberle CA, Piscuoglio S, Rakha EA, et al. Infiltrating epitheliosis of the breast: characterization of histological features, immunophenotype and genomic profile. Histopathology 2016; 68(7): 1030-1039.
  37. Pang M, Yuan M, Yu M. Imaging findings of a tall cell variant of papillary breast carcinoma. Med Ultrason 2022; 24(1): 122-123.
  38. Cserni G, Quinn CM, Foschini MP, et al. Triple-negative breast cancer histological subtypes with a favourable prognosis. Cancers (Basel) 2021; 13(22): 5694.
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Czecho-Slovak Pathology

Číslo 3
2023 Číslo 3
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