Difference between revisions of "BRST5:Tall cell carcinoma with reversed polarity"

From Compendium of Cancer Genome Aberrations
Jump to navigation Jump to search
VisualWikitext
[checked revision][checked revision]
 
(16 intermediate revisions by 3 users not shown)
Line 1: Line 1:
 
==Primary Author(s)*==
 
==Primary Author(s)*==
  
−
Put your text here
+
H. Evin Gulbahce, MD, MSCI, University of Utah, UT, and Katherine Geiersbach, MD, Mayo Clinic
  
 
__TOC__
 
__TOC__
Line 7: Line 7:
 
==Cancer Category/Type==
 
==Cancer Category/Type==
  
−
Put your text here
+
Breast cancer / Epithelial Tumours of the Breast
  
 
==Cancer Sub-Classification / Subtype==
 
==Cancer Sub-Classification / Subtype==
  
−
Put your text here
+
Tall cell carcinoma with reversed polarity  
  
 
==Definition / Description of Disease==
 
==Definition / Description of Disease==
  
−
Put your text here
+
Tall cell carcinoma with reversed polarity is a rare variant of invasive breast carcinoma with unusual histopathologic features. In 2019, 5th edition of the World Health Organization (WHO) classification of breast tumors, it is in the group of rare and salivary gland-type tumors and is associated with favorable prognosis.  
  
 
==Synonyms / Terminology==
 
==Synonyms / Terminology==
  
−
Put your text here
+
*Breast tumor resembling tall cell variant of papillary thyroid carcinoma
 +
*Solid papillary breast carcinoma resembling the tall cell variant of papillary thyroid neoplasms (Historical)
 +
 
 +
*Breast cancer with altered nuclear polarity (Historical)
 +
*Solid papillary carcinoma with reverse polarity (Historical)
 +
*Tall cell variant of papillary breast carcinoma (Historical)
  
 
==Epidemiology / Prevalence==
 
==Epidemiology / Prevalence==
  
−
Put your text here
+
Rare; fewer than 100 cases reported. No specific epidemiologic data are available. All patients have been women with a mean age of 64 years.
  
 
==Clinical Features==
 
==Clinical Features==
−
 
−
Put your text here and fill in the table
 
 
{| class="wikitable"
 
{| class="wikitable"
 
|'''Signs and Symptoms'''
 
|'''Signs and Symptoms'''
−
|EXAMPLE Asymptomatic (incidental finding on complete blood counts)
+
|Mammographic or palpable mass
  
−
EXAMPLE B-symptoms (weight loss, fever, night sweats)
+
Axillary lymph node metastasis (rare; reported in only three patients)
−
 
 
−
EXAMPLE Fatigue
 
−
 
 
−
EXAMPLE Lymphadenopathy (uncommon)
 
 
|-
 
|-
 
|'''Laboratory Findings'''
 
|'''Laboratory Findings'''
−
|EXAMPLE Cytopenias
+
|Not applicable
−
 
 
−
EXAMPLE Lymphocytosis (low level)
 
 
|}
 
|}
  
 
==Sites of Involvement==
 
==Sites of Involvement==
  
−
Put your text here
+
There is no specific predilection for location in the breast.
  
 
==Morphologic Features==
 
==Morphologic Features==
  
−
Put your text here
+
*Circumscribed nests of cells, many of which have fibrovascular cores. Foamy histiocytes are often present within the fibrovascular cores.  
 +
*Occasionally true papillae and cyst-like structures with colloid-like material are identified.
 +
*Epithelial cells are tall, may have nuclear grooves and intranuclear cytoplasmic inclusions.  
 +
*The most characteristic feature is the presence of nuclei in the apical rather than basal pole of the cells hence the “reverse polarity.”
  
 
==Immunophenotype==
 
==Immunophenotype==
  
−
Put your text here and fill in the table
+
*Most carcinomas do not express estrogen or progesterone receptors (ER, PR). Those that tend to show staining of only a small fraction of the cells.  
 +
*No cases reported to be HER2 positive (3+) or amplified by ISH.  
 +
*Proliferative index (Ki67) has been less than 20%.
  
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
Line 60: Line 62:
 
!Finding!!Marker
 
!Finding!!Marker
 
|-
 
|-
−
|Positive (universal)||EXAMPLE CD1
+
|Positive (universal)||Cytokeratin 7, cytokeratin 5/6
 
|-
 
|-
−
|Positive (subset)||EXAMPLE CD2
+
|Positive (subset)||GCDFP-15, GATA3, IDH1/2 mutant<ref name=":3">{{Cite journal|last=Pareja|first=Fresia|last2=da Silva|first2=Edaise M.|last3=Frosina|first3=Denise|last4=Geyer|first4=Felipe C.|last5=Lozada|first5=John R.|last6=Basili|first6=Thais|last7=Da Cruz Paula|first7=Arnaud|last8=Zhong|first8=Elaine|last9=Derakhshan|first9=Fatemeh|date=2020-06|title=Immunohistochemical analysis of IDH2 R172 hotspot mutations in breast papillary neoplasms: applications in the diagnosis of tall cell carcinoma with reverse polarity|url=https://pubmed.ncbi.nlm.nih.gov/31896809|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=33|issue=6|pages=1056–1064|doi=10.1038/s41379-019-0442-2|issn=1530-0285|pmc=7286791|pmid=31896809}}</ref>, calretinin
 
|-
 
|-
−
|Negative (universal)||EXAMPLE CD3
+
|Negative (universal)||HER2 (ERBB2) expression or amplification; TTF-1, thyroglobulin, myoepithelial markers (p63, myosin)
 
|-
 
|-
−
|Negative (subset)||EXAMPLE CD4
+
|Negative (subset)||
−
|}
+
|}<br />
−
 
 
 
==Chromosomal Rearrangements (Gene Fusions)==
 
==Chromosomal Rearrangements (Gene Fusions)==
−
 
−
Put your text here and fill in the table
 
  
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
Line 81: Line 80:
 
!Notes
 
!Notes
 
|-
 
|-
−
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC)
+
|N/A
−
EXAMPLE 30% (add reference)
+
|N/A
−
|Yes
+
|N/A
−
|No
+
|N/A
−
|Yes
+
|N/A
−
|EXAMPLE
+
|N/A
−
 
+
|N/A
−
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).
+
|N/A
 
|}
 
|}
 
 
 
==Individual Region Genomic Gain/Loss/LOH==
 
==Individual Region Genomic Gain/Loss/LOH==
−
 
−
Put your text here and fill in the table
 
  
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
Line 103: Line 100:
 
!Notes
 
!Notes
 
|-
 
|-
−
|EXAMPLE
+
|N/A
−
 
+
|N/A
−
7
+
|N/A
−
|EXAMPLE Loss
+
|N/A
−
|EXAMPLE
+
|N/A
−
 
+
|N/A
−
chr7:1- 159,335,973 [hg38]
+
|N/A
−
|EXAMPLE
+
|N/A
−
 
 
−
chr7
 
−
|Yes
 
−
|Yes
 
−
|No
 
−
|EXAMPLE
 
−
 
 
−
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).
 
−
|-
 
−
|EXAMPLE
 
−
 
 
−
8
 
−
|EXAMPLE Gain
 
−
|EXAMPLE
 
−
 
 
−
chr8:1-145,138,636 [hg38]
 
−
|EXAMPLE
 
−
 
 
−
chr8
 
−
|No
 
−
|No
 
−
|No
 
−
|EXAMPLE
 
−
 
 
−
Common recurrent secondary finding for t(8;21) (add reference).
 
 
|}
 
|}
 
==Characteristic Chromosomal Patterns==
 
==Characteristic Chromosomal Patterns==
−
 
−
Put your text here
 
  
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
Line 149: Line 119:
 
!Notes
 
!Notes
 
|-
 
|-
−
|EXAMPLE
+
|N/A
−
 
+
|N/A
−
Co-deletion of 1p and 18q
+
|N/A
−
|Yes
+
|N/A
−
|No
+
|N/A
−
|No
 
−
|EXAMPLE:
 
−
 
 
−
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
 
 
|}
 
|}
 
==Gene Mutations (SNV/INDEL)==
 
==Gene Mutations (SNV/INDEL)==
−
 
−
Put your text here and fill in the table
 
  
 
{| class="wikitable sortable"
 
{| class="wikitable sortable"
Line 171: Line 135:
 
!Notes
 
!Notes
 
|-
 
|-
−
|EXAMPLE: TP53; Variable LOF mutations
+
|''IDH2'' codon 172 mutations<ref name=":1">{{Cite journal|last=Chiang|first=Sarah|last2=Weigelt|first2=Britta|last3=Wen|first3=Huei-Chi|last4=Pareja|first4=Fresia|last5=Raghavendra|first5=Ashwini|last6=Martelotto|first6=Luciano G.|last7=Burke|first7=Kathleen A.|last8=Basili|first8=Thais|last9=Li|first9=Anqi|date=2016-12-15|title=IDH2 Mutations Define a Unique Subtype of Breast Cancer with Altered Nuclear Polarity|url=https://pubmed.ncbi.nlm.nih.gov/27913435|journal=Cancer Research|volume=76|issue=24|pages=7118–7129|doi=10.1158/0008-5472.CAN-16-0298|issn=1538-7445|pmc=5502804|pmid=27913435}}</ref><ref name=":2">{{Cite journal|last=Lozada|first=John R.|last2=Basili|first2=Thais|last3=Pareja|first3=Fresia|last4=Alemar|first4=Barbara|last5=Paula|first5=Arnaud Da Cruz|last6=Gularte-Merida|first6=Rodrigo|last7=Giri|first7=Dilip D.|last8=Querzoli|first8=Patricia|last9=Cserni|first9=Gabor|date=2018-08|title=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|url=https://pubmed.ncbi.nlm.nih.gov/29603332|journal=Histopathology|volume=73|issue=2|pages=339–344|doi=10.1111/his.13522|issn=1365-2559|pmc=6783257|pmid=29603332}}</ref><ref name=":0">{{Cite journal|last=Alsadoun|first=Nadjla|last2=MacGrogan|first2=Gaëtan|last3=Truntzer|first3=Caroline|last4=Lacroix-Triki|first4=Magali|last5=Bedgedjian|first5=Isabelle|last6=Koeb|first6=Marie-Hélène|last7=El Alam|first7=Elsy|last8=Medioni|first8=Dan|last9=Parent|first9=Michel|date=2018-09|title=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|url=https://pubmed.ncbi.nlm.nih.gov/29785016|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=31|issue=9|pages=1367–1380|doi=10.1038/s41379-018-0047-1|issn=1530-0285|pmid=29785016}}</ref>
 +
|Gain of function (Oncogene)
 +
|<1 % (TCGA)  
 +
|''PIK3CA'' (most commonly H1047R), PIK3R1
 +
|*
 +
|Yes
 +
|No
 +
|No
 +
|90% of cases show ''IDH2'' hot spot mutation.
 +
No targeted therapy for ''IDH2'' mutated breast cancer.
  
−
EXAMPLE:
+
<br />
 +
|}
 +
<nowiki>*</nowiki>A single case without ''IDH2'' mutation but with a ''TET2'' Q548* truncating mutation and with a ''PIK3CA'' H1047R mutation has been reported in one study.<ref name=":1" />
  
−
EGFR; Exon 20 mutations
 
  
−
EXAMPLE: BRAF; Activating mutations
 
−
|EXAMPLE: TSG
 
−
|EXAMPLE: 20% (COSMIC)
 
−
 
−
EXAMPLE: 30% (add Reference)
 
−
|EXAMPLE: IDH1 R123H
 
−
|EXAMPLE: EGFR amplification
 
−
|
 
−
|
 
−
|
 
−
|EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).
 
−
<br />
 
−
|}
 
 
Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
 
Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
  
 
==Epigenomic Alterations==
 
==Epigenomic Alterations==
  
−
Put your text here
+
Global DNA hypermethylation
  
 
==Genes and Main Pathways Involved==
 
==Genes and Main Pathways Involved==
Line 203: Line 164:
 
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
|-
 
|-
−
|EXAMPLE: BRAF and MAP2K1; Activating mutations
+
|''IDH2'' codon 172 mutations (majority are R172S, R172T; other mutations include R172G, R172W, R172I)<ref name=":4">{{Cite journal|last=Zhong|first=Elaine|last2=Scognamiglio|first2=Theresa|last3=D'Alfonso|first3=Timothy|last4=Song|first4=Wei|last5=Tran|first5=Hung|last6=Baek|first6=Inji|last7=Hoda|first7=Syed A.|date=2019-04|title=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|url=https://pubmed.ncbi.nlm.nih.gov/30227763|journal=International Journal of Surgical Pathology|volume=27|issue=2|pages=134–141|doi=10.1177/1066896918800779|issn=1940-2465|pmid=30227763}}</ref><ref name=":2" /><ref name=":1" /><ref name=":0" />
−
|EXAMPLE: MAPK signaling
+
|Carbon metabolism: citrate cycle
−
|EXAMPLE: Increased cell growth and proliferation
+
|Increased conversion of α-ketoglutarate (α-KG) to the oncometabolite R-2-hydroxylglutarate (R-2-HG). Increased levels of 2-HG result in hypermethylation of epigenetic targets and a subsequent block in cellular differentiation. Due to widespread hypermethylation, there is increased H3K27me3 nuclear immunoreactivity in tumors harboring ''IDH2'' R172 mutations.
 
|-
 
|-
−
|EXAMPLE: CDKN2A; Inactivating mutations
+
|''PIK3CA'' mutations: H1047R most common<ref name=":2" />
−
|EXAMPLE: Cell cycle regulation
+
|PI3K/AKT/mTOR pathway
−
|EXAMPLE: Unregulated cell division
+
|Three most common ''PIK3CA'' mutations are H1047R, E542K, and E545K; ''PIK3CA'' mutations induce hyperactivation of the alpha isoform of the catalytic subunit (p110α) of class IA PI3K kinase. Mutations are often co-occurring with other drivers in ER-positive breast cancers and are associated with endocrine resistance. ''PIK3CA'' mutations are targetable with the PI3K inhibitor alpelisib in ER positive breast cancers; however, tall cell carcinoma with reverse polarity is usually ER negative.
 
|-
 
|-
−
|EXAMPLE:  KMT2C and ARID1A; Inactivating mutations
+
|
−
|EXAMPLE:  Histone modification, chromatin remodeling
+
|
−
|EXAMPLE:  Abnormal gene expression program
+
|
 
|}
 
|}
 
==Genetic Diagnostic Testing Methods==
 
==Genetic Diagnostic Testing Methods==
  
−
Put your text here
+
Next generation sequencing (NGS); immunohistochemistry with monoclonal antibodies against ''IDH2'' mutant codon R172S (monoclonal antibody clone 11C8B1 is reactive against R172S or R172T); pyrosequencing; Sanger sequencing; PCR with allele detection (examples include PCR with melting curve analysis, or PCR with use of allele-specific probes); allele-specific PCR; single base extension.  
  
 
==Familial Forms==
 
==Familial Forms==
  
−
Put your text here
+
None  
  
 
==Additional Information==
 
==Additional Information==
−
 
−
Put your text here
 
  
 
==Links==
 
==Links==
  
−
Put your text placeholder here (use "Link" icon at top of page)
+
[https://www.pathologyoutlines.com/topic/breastmalignantspcrp.html PathologyOutlines.com]
  
 
==References==
 
==References==
−
(use "Cite" icon at top of page)
+
<references />
−
<references />'''EXAMPLE Book'''
 
  
−
#Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p129-171.
+
#
  
 
==Notes==
 
==Notes==
 
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome.
 
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome.

Latest revision as of 16:31, 12 July 2024

Primary Author(s)*

H. Evin Gulbahce, MD, MSCI, University of Utah, UT, and Katherine Geiersbach, MD, Mayo Clinic

Cancer Category/Type

Breast cancer / Epithelial Tumours of the Breast

Cancer Sub-Classification / Subtype

Tall cell carcinoma with reversed polarity  

Definition / Description of Disease

Tall cell carcinoma with reversed polarity is a rare variant of invasive breast carcinoma with unusual histopathologic features. In 2019, 5th edition of the World Health Organization (WHO) classification of breast tumors, it is in the group of rare and salivary gland-type tumors and is associated with favorable prognosis.  

Synonyms / Terminology

  • Breast tumor resembling tall cell variant of papillary thyroid carcinoma
  • Solid papillary breast carcinoma resembling the tall cell variant of papillary thyroid neoplasms (Historical)
  • Breast cancer with altered nuclear polarity (Historical)
  • Solid papillary carcinoma with reverse polarity (Historical)
  • Tall cell variant of papillary breast carcinoma (Historical)

Epidemiology / Prevalence

Rare; fewer than 100 cases reported. No specific epidemiologic data are available. All patients have been women with a mean age of 64 years.

Clinical Features

Signs and Symptoms Mammographic or palpable mass

Axillary lymph node metastasis (rare; reported in only three patients)

Laboratory Findings Not applicable

Sites of Involvement

There is no specific predilection for location in the breast.

Morphologic Features

  • Circumscribed nests of cells, many of which have fibrovascular cores. Foamy histiocytes are often present within the fibrovascular cores.  
  • Occasionally true papillae and cyst-like structures with colloid-like material are identified.
  • Epithelial cells are tall, may have nuclear grooves and intranuclear cytoplasmic inclusions.  
  • The most characteristic feature is the presence of nuclei in the apical rather than basal pole of the cells hence the “reverse polarity.”

Immunophenotype

  • Most carcinomas do not express estrogen or progesterone receptors (ER, PR). Those that tend to show staining of only a small fraction of the cells.  
  • No cases reported to be HER2 positive (3+) or amplified by ISH.  
  • Proliferative index (Ki67) has been less than 20%.
Finding Marker
Positive (universal) Cytokeratin 7, cytokeratin 5/6
Positive (subset) GCDFP-15, GATA3, IDH1/2 mutant[1], calretinin
Negative (universal) HER2 (ERBB2) expression or amplification; TTF-1, thyroglobulin, myoepithelial markers (p63, myosin)
Negative (subset)


Chromosomal Rearrangements (Gene Fusions)

Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
N/A N/A N/A N/A N/A N/A N/A N/A

Individual Region Genomic Gain/Loss/LOH

Chr # Gain / Loss / Amp / LOH Minimal Region Genomic Coordinates [Genome Build] Minimal Region Cytoband Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
N/A N/A N/A N/A N/A N/A N/A N/A

Characteristic Chromosomal Patterns

Chromosomal Pattern Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
N/A N/A N/A N/A N/A

Gene Mutations (SNV/INDEL)

Gene; Genetic Alteration Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other) Prevalence (COSMIC / TCGA / Other) Concomitant Mutations Mutually Exclusive Mutations Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
IDH2 codon 172 mutations[2][3][4] Gain of function (Oncogene) <1 % (TCGA)   PIK3CA (most commonly H1047R), PIK3R1 * Yes No No 90% of cases show IDH2 hot spot mutation.

No targeted therapy for IDH2 mutated breast cancer.


*A single case without IDH2 mutation but with a TET2 Q548* truncating mutation and with a PIK3CA H1047R mutation has been reported in one study.[2]


Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.

Epigenomic Alterations

Global DNA hypermethylation

Genes and Main Pathways Involved

Put your text here and fill in the table

Gene; Genetic Alteration Pathway Pathophysiologic Outcome
IDH2 codon 172 mutations (majority are R172S, R172T; other mutations include R172G, R172W, R172I)[5][3][2][4] Carbon metabolism: citrate cycle Increased conversion of α-ketoglutarate (α-KG) to the oncometabolite R-2-hydroxylglutarate (R-2-HG). Increased levels of 2-HG result in hypermethylation of epigenetic targets and a subsequent block in cellular differentiation. Due to widespread hypermethylation, there is increased H3K27me3 nuclear immunoreactivity in tumors harboring IDH2 R172 mutations.
PIK3CA mutations: H1047R most common[3] PI3K/AKT/mTOR pathway Three most common PIK3CA mutations are H1047R, E542K, and E545K; PIK3CA mutations induce hyperactivation of the alpha isoform of the catalytic subunit (p110α) of class IA PI3K kinase. Mutations are often co-occurring with other drivers in ER-positive breast cancers and are associated with endocrine resistance. PIK3CA mutations are targetable with the PI3K inhibitor alpelisib in ER positive breast cancers; however, tall cell carcinoma with reverse polarity is usually ER negative.

Genetic Diagnostic Testing Methods

Next generation sequencing (NGS); immunohistochemistry with monoclonal antibodies against IDH2 mutant codon R172S (monoclonal antibody clone 11C8B1 is reactive against R172S or R172T); pyrosequencing; Sanger sequencing; PCR with allele detection (examples include PCR with melting curve analysis, or PCR with use of allele-specific probes); allele-specific PCR; single base extension.  

Familial Forms

None  

Additional Information

Links

PathologyOutlines.com

References

  1. ↑ Pareja, Fresia; et al. (2020-06). "Immunohistochemical analysis of IDH2 R172 hotspot mutations in breast papillary neoplasms: applications in the diagnosis of tall cell carcinoma with reverse polarity". Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc. 33 (6): 1056–1064. doi:10.1038/s41379-019-0442-2. ISSN 1530-0285. PMC 7286791 Check |pmc= value (help). PMID 31896809. Check date values in: |date= (help)
  2. ↑ 2.0 2.1 2.2 Chiang, Sarah; et al. (2016-12-15). "IDH2 Mutations Define a Unique Subtype of Breast Cancer with Altered Nuclear Polarity". Cancer Research. 76 (24): 7118–7129. doi:10.1158/0008-5472.CAN-16-0298. ISSN 1538-7445. PMC 5502804. PMID 27913435.
  3. ↑ 3.0 3.1 3.2 Lozada, John R.; et al. (2018-08). "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. 73 (2): 339–344. doi:10.1111/his.13522. ISSN 1365-2559. PMC 6783257. PMID 29603332. Check date values in: |date= (help)
  4. ↑ 4.0 4.1 Alsadoun, Nadjla; et al. (2018-09). "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". Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc. 31 (9): 1367–1380. doi:10.1038/s41379-018-0047-1. ISSN 1530-0285. PMID 29785016. Check date values in: |date= (help)
  5. ↑ Zhong, Elaine; et al. (2019-04). "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". International Journal of Surgical Pathology. 27 (2): 134–141. doi:10.1177/1066896918800779. ISSN 1940-2465. PMID 30227763. Check date values in: |date= (help)

Notes

*Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage).  Additional global feedback or concerns are also welcome.

Retrieved from "https://ccga.io/index.php?title=BRST5:Tall_cell_carcinoma_with_reversed_polarity&oldid=14650"