Compendium of Cancer Genome Aberrations

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BRST5:Tall Cell Carcinoma with Reversed Polarity (view source)

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==Primary Author(s)*==
 
==Primary Author(s)*==
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H. Evin Gulbahce, MD, MSCI, University of Utah, UT, and Katherine Geiersbach, MD, Mayo Clinic
    
__TOC__
 
__TOC__
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==Cancer Category/Type==
 
==Cancer Category/Type==
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Breast cancer / Epithelial Tumours of the Breast
    
==Cancer Sub-Classification / Subtype==
 
==Cancer Sub-Classification / Subtype==
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Tall cell carcinoma with reversed polarity  
    
==Definition / Description of Disease==
 
==Definition / Description of Disease==
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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==
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Put your text here
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*Breast tumor resembling tall cell variant of papillary thyroid carcinoma
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*Solid papillary breast carcinoma resembling the tall cell variant of papillary thyroid neoplasms (Historical)
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 +
*Breast cancer with altered nuclear polarity (Historical)
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*Solid papillary carcinoma with reverse polarity (Historical)
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*Tall cell variant of papillary breast carcinoma (Historical)
    
==Epidemiology / Prevalence==
 
==Epidemiology / Prevalence==
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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==
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Put your text here and fill in the table
   
{| class="wikitable"
 
{| class="wikitable"
 
|'''Signs and Symptoms'''
 
|'''Signs and Symptoms'''
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|EXAMPLE Asymptomatic (incidental finding on complete blood counts)
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|Mammographic or palpable mass
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EXAMPLE B-symptoms (weight loss, fever, night sweats)
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Axillary lymph node metastasis (rare; reported in only three patients)
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EXAMPLE Fatigue
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EXAMPLE Lymphadenopathy (uncommon)
   
|-
 
|-
 
|'''Laboratory Findings'''
 
|'''Laboratory Findings'''
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|EXAMPLE Cytopenias
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|Not applicable
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EXAMPLE Lymphocytosis (low level)
   
|}
 
|}
    
==Sites of Involvement==
 
==Sites of Involvement==
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There is no specific predilection for location in the breast.
    
==Morphologic Features==
 
==Morphologic Features==
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*Circumscribed nests of cells, many of which have fibrovascular cores. Foamy histiocytes are often present within the fibrovascular cores.  
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*Occasionally true papillae and cyst-like structures with colloid-like material are identified.
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*Epithelial cells are tall, may have nuclear grooves and intranuclear cytoplasmic inclusions.  
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*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==
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*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.  
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*No cases reported to be HER2 positive (3+) or amplified by ISH.  
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*Proliferative index (Ki67) has been less than 20%.
    
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Finding!!Marker
 
!Finding!!Marker
 
|-
 
|-
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|Positive (universal)||EXAMPLE CD1
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|Positive (universal)||Cytokeratin 7, cytokeratin 5/6
 
|-
 
|-
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|Positive (subset)||EXAMPLE CD2
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|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
 
|-
 
|-
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|Negative (universal)||EXAMPLE CD3
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|Negative (universal)||HER2 (ERBB2) expression or amplification; TTF-1, thyroglobulin, myoepithelial markers (p63, myosin)
 
|-
 
|-
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|Negative (subset)||EXAMPLE CD4
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|Negative (subset)||
−
|}
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|}<br />
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==Chromosomal Rearrangements (Gene Fusions)==
 
==Chromosomal Rearrangements (Gene Fusions)==
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Put your text here and fill in the table
      
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Notes
 
!Notes
 
|-
 
|-
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|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC)
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|N/A
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EXAMPLE 30% (add reference)
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|N/A
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|Yes
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|N/A
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|No
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|N/A
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|Yes
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|N/A
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|EXAMPLE
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|N/A
−
 
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|N/A
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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).
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|N/A
 
|}
 
|}
 
 
 
==Individual Region Genomic Gain/Loss/LOH==
 
==Individual Region Genomic Gain/Loss/LOH==
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{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Notes
 
!Notes
 
|-
 
|-
−
|EXAMPLE
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|N/A
−
 
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|N/A
−
7
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|N/A
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|EXAMPLE Loss
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|N/A
−
|EXAMPLE
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|N/A
−
 
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|N/A
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chr7:1- 159,335,973 [hg38]
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|N/A
−
|EXAMPLE
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|N/A
−
 
  −
chr7
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|Yes
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|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).
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|-
  −
|EXAMPLE
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  −
8
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|EXAMPLE Gain
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|EXAMPLE
  −
 
  −
chr8:1-145,138,636 [hg38]
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|EXAMPLE
  −
 
  −
chr8
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|No
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|No
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|No
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|EXAMPLE
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Common recurrent secondary finding for t(8;21) (add reference).
   
|}
 
|}
 
==Characteristic Chromosomal Patterns==
 
==Characteristic Chromosomal Patterns==
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{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Notes
 
!Notes
 
|-
 
|-
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|EXAMPLE
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|N/A
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|N/A
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Co-deletion of 1p and 18q
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|N/A
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|Yes
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|N/A
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|No
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|N/A
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|No
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|EXAMPLE:
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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)==
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Put your text here and fill in the table
      
{| class="wikitable sortable"
 
{| class="wikitable sortable"
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!Notes
 
!Notes
 
|-
 
|-
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|EXAMPLE: TP53; Variable LOF mutations
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|''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>
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|Gain of function (Oncogene)
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|<1 % (TCGA)  
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|''PIK3CA'' (most commonly H1047R), PIK3R1
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|*
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|Yes
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|No
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|No
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|90% of cases show ''IDH2'' hot spot mutation.
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No targeted therapy for ''IDH2'' mutated breast cancer.
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EXAMPLE:
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<br />
 +
|}
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<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" />
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EGFR; Exon 20 mutations
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EXAMPLE: BRAF; Activating mutations
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|EXAMPLE: TSG
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|EXAMPLE: 20% (COSMIC)
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EXAMPLE: 30% (add Reference)
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|EXAMPLE: IDH1 R123H
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|EXAMPLE: EGFR amplification
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|
  −
|
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|
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|EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).
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<br />
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|}
   
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==
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Global DNA hypermethylation
    
==Genes and Main Pathways Involved==
 
==Genes and Main Pathways Involved==
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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
|-
 
|-
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|EXAMPLE: BRAF and MAP2K1; Activating mutations
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|''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
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|Carbon metabolism: citrate cycle
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|EXAMPLE: Increased cell growth and proliferation
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|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
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|''PIK3CA'' mutations: H1047R most common<ref name=":2" />
−
|EXAMPLE: Cell cycle regulation
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|PI3K/AKT/mTOR pathway
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|EXAMPLE: Unregulated cell division
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|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==
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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==
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None  
    
==Additional Information==
 
==Additional Information==
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  −
Put your text here
      
==Links==
 
==Links==
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Put your text placeholder here (use "Link" icon at top of page)
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[https://www.pathologyoutlines.com/topic/breastmalignantspcrp.html PathologyOutlines.com]
    
==References==
 
==References==
−
(use "Cite" icon at top of page)
+
<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.
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#
    
==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.
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