Difference between revisions of "BRST5:Secretory carcinoma"
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+ | ==Primary Author(s)*== | ||
− | + | Hui Chen, MD, PhD, The University of Texas MD Anderson Cancer Center | |
+ | |||
+ | Morteza Seifi, PhD, University of Wisconsin | ||
__TOC__ | __TOC__ | ||
Line 6: | Line 9: | ||
==Cancer Category/Type== | ==Cancer Category/Type== | ||
− | Breast | + | Breast Tumours / Epithelial tumours of the breast |
==Cancer Sub-Classification / Subtype== | ==Cancer Sub-Classification / Subtype== | ||
− | + | Rare and salivary gland-type tumours / Secretory carcinoma | |
==Definition / Description of Disease== | ==Definition / Description of Disease== | ||
− | + | Secretory carcinoma is a low-grade tumor displaying pushing borders and areas of unequivocal stromal invasion. Tumors may show combinations of microcystic, solid and tubular patterns. The microcystic pattern is composed of irregular shaped small cysts lined with single layer of tumor cells and filled with eosinophilic secretions. The tubular pattern shows luminal eosinophil secretions. The microcystic and tubular patterns can mimic thyroid follicles and can merge into solid islands. Tumor cells are polygonal with granular eosinophilic to foamy cytoplasm. Tumor nuclei are slightly enlarged and regular in shape with inconspicuous nucleoli. Mitotic activity is rare. | |
==Synonyms / Terminology== | ==Synonyms / Terminology== | ||
− | + | Synonyms: Juvenile breast carcinoma (historical) | |
==Epidemiology / Prevalence== | ==Epidemiology / Prevalence== | ||
− | + | Rare, < 0.02% of all breast cancers. <ref name=":0">{{Cite journal|last=Horowitz|first=David P.|last2=Sharma|first2=Charu S.|last3=Connolly|first3=Eileen|last4=Gidea-Addeo|first4=Daniela|last5=Deutsch|first5=Israel|date=2012-06|title=Secretory carcinoma of the breast: results from the survival, epidemiology and end results database|url=https://pubmed.ncbi.nlm.nih.gov/22494666|journal=Breast (Edinburgh, Scotland)|volume=21|issue=3|pages=350–353|doi=10.1016/j.breast.2012.02.013|issn=1532-3080|pmid=22494666}}</ref><ref name=":1">{{Cite journal|last=Jacob|first=John Doromal|last2=Hodge|first2=Caitlin|last3=Franko|first3=Jan|last4=Pezzi|first4=Christopher M.|last5=Goldman|first5=Charles D.|last6=Klimberg|first6=Vicki Suzanne|date=2016-06|title=Rare breast cancer: 246 invasive secretory carcinomas from the National Cancer Data Base|url=https://pubmed.ncbi.nlm.nih.gov/27040042|journal=Journal of Surgical Oncology|volume=113|issue=7|pages=721–725|doi=10.1002/jso.24241|issn=1096-9098|pmid=27040042}}</ref> | |
+ | |||
+ | Initially described in children; most common childhood breast cancer. <ref>{{Cite journal|last=McDivitt|first=R. W.|last2=Stewart|first2=F. W.|date=1966-01-31|title=Breast carcinoma in children|url=https://pubmed.ncbi.nlm.nih.gov/4285563|journal=JAMA|volume=195|issue=5|pages=388–390|issn=0098-7484|pmid=4285563}}</ref> | ||
+ | |||
+ | Wide age range, bimodal age distribution with peaks in second and seventh decades <ref name=":0" /> | ||
+ | |||
+ | M:F = 1:6 to 1:31. <ref name=":1" /><ref>{{Cite journal|last=Arce|first=C.|last2=Cortes-Padilla|first2=D.|last3=Huntsman|first3=D. G.|last4=Miller|first4=M. A.|last5=Dueñnas-Gonzalez|first5=A.|last6=Alvarado|first6=A.|last7=Pérez|first7=V.|last8=Gallardo-Rincón|first8=D.|last9=Lara-Medina|first9=F.|date=2005-06-17|title=Secretory carcinoma of the breast containing the ETV6-NTRK3 fusion gene in a male: case report and review of the literature|url=https://pubmed.ncbi.nlm.nih.gov/15963235|journal=World Journal of Surgical Oncology|volume=3|pages=35|doi=10.1186/1477-7819-3-35|issn=1477-7819|pmc=1184104|pmid=15963235}}</ref><ref>{{Cite journal|last=Li|first=Dali|last2=Xiao|first2=Xiuying|last3=Yang|first3=Wentao|last4=Shui|first4=Ruohong|last5=Tu|first5=Xiaoyu|last6=Lu|first6=Hongfen|last7=Shi|first7=Daren|date=2012-04|title=Secretory breast carcinoma: a clinicopathological and immunophenotypic study of 15 cases with a review of the literature|url=https://pubmed.ncbi.nlm.nih.gov/22157932|journal=Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc|volume=25|issue=4|pages=567–575|doi=10.1038/modpathol.2011.190|issn=1530-0285|pmid=22157932}}</ref><ref>{{Cite journal|last=Herz|first=H.|last2=Cooke|first2=B.|last3=Goldstein|first3=D.|date=2000-10|title=Metastatic secretory breast cancer. Non-responsiveness to chemotherapy: case report and review of the literature|url=https://pubmed.ncbi.nlm.nih.gov/11106125|journal=Annals of Oncology: Official Journal of the European Society for Medical Oncology|volume=11|issue=10|pages=1343–1347|doi=10.1023/a:1008387800525|issn=0923-7534|pmid=11106125}}</ref> | ||
==Clinical Features== | ==Clinical Features== | ||
− | Put your text here | + | Put your text here and fill in the table |
+ | {| class="wikitable" | ||
+ | |'''Signs and Symptoms''' | ||
+ | |Well-circumscribed mobile masses | ||
+ | |- | ||
+ | |'''Laboratory Findings''' | ||
+ | |Not applicable | ||
+ | |} | ||
==Sites of Involvement== | ==Sites of Involvement== | ||
− | + | The tumors are commonly seen in sub-areolar area. | |
==Morphologic Features== | ==Morphologic Features== | ||
− | + | Microcystic, solid and tubular patterns | |
==Immunophenotype== | ==Immunophenotype== | ||
− | Put your text here and | + | Put your text here and fill in the table |
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
− | ! Finding | + | !Finding!!Marker |
|- | |- | ||
− | |Positive (universal) || | + | |Positive (universal)||S100, EMA, TRK |
|- | |- | ||
− | |Positive (subset) || | + | |Positive (subset)||CEA (polyclonal), mammaglobin, SOX10 |
|- | |- | ||
− | |Negative (universal) || | + | |Negative (universal)||ER, PR, and HER2 |
|- | |- | ||
− | |Negative (subset) || | + | |Negative (subset)|| |
|} | |} | ||
==Chromosomal Rearrangements (Gene Fusions)== | ==Chromosomal Rearrangements (Gene Fusions)== | ||
− | Put your text here and | + | Put your text here and fill in the table |
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
− | ! Chromosomal Rearrangement !! Genes in Fusion (5’ or 3’ Segments) !! Pathogenic Derivative !! Prevalence | + | !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 | ||
|- | |- | ||
− | | | + | |t(12;15)(p13;q25)||''ETV6::NTRK3''||der(15)||92% <ref name=":2" /> |
− | |- | + | |Yes |
− | | | + | |Yes |
+ | |Yes | ||
+ | |The ''ETV6::NTRK3'' fusion is diagnostic of secretory carcinoma of breast in the appropriate morphology and clinical context. <ref name=":2">{{Cite journal|last=Tognon|first=Cristina|last2=Knezevich|first2=Stevan R.|last3=Huntsman|first3=David|last4=Roskelley|first4=Calvin D.|last5=Melnyk|first5=Natalya|last6=Mathers|first6=Joan A.|last7=Becker|first7=Laurence|last8=Carneiro|first8=Fatima|last9=MacPherson|first9=Nicol|date=2002-11|title=Expression of the ETV6-NTRK3 gene fusion as a primary event in human secretory breast carcinoma|url=https://pubmed.ncbi.nlm.nih.gov/12450792|journal=Cancer Cell|volume=2|issue=5|pages=367–376|doi=10.1016/s1535-6108(02)00180-0|issn=1535-6108|pmid=12450792}}</ref> This fusion is responsive to targeted therapy such as larotrectinib (Vitrakvi) and entrectinib (Rozlytrek). <ref>{{Cite journal|last=Krebs|first=M. G.|last2=Blay|first2=J.-Y.|last3=Le Tourneau|first3=C.|last4=Hong|first4=D.|last5=Veronese|first5=L.|last6=Antoniou|first6=M.|last7=Bennett|first7=I.|date=2021-04|title=Intrapatient comparisons of efficacy in a single-arm trial of entrectinib in tumour-agnostic indications|url=https://pubmed.ncbi.nlm.nih.gov/33676294|journal=ESMO open|volume=6|issue=2|pages=100072|doi=10.1016/j.esmoop.2021.100072|issn=2059-7029|pmc=8103537|pmid=33676294}}</ref> | ||
|} | |} | ||
− | == | + | ==Individual Region Genomic Gain/Loss/LOH== |
− | + | Put your text here and fill in the table | |
− | |||
− | |||
− | |||
− | Put your text here and | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
− | ! | + | !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== | ||
− | Put your text here | + | Put your text here |
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
− | ! | + | !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 | |
+ | | | ||
+ | |} | ||
+ | ==Gene Mutations (SNV/INDEL)== | ||
+ | |||
+ | Put your text here and fill in the table | ||
+ | |||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
− | ! | + | !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 | ||
|- | |- | ||
− | | | + | |N/A |
− | | | + | |N/A |
− | | | + | |N/A |
− | | | + | |N/A |
− | | | + | |N/A |
+ | |N/A | ||
+ | |N/A | ||
+ | |N/A | ||
+ | | | ||
|} | |} | ||
+ | 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== |
− | + | N/A | |
==Genes and Main Pathways Involved== | ==Genes and Main Pathways Involved== | ||
− | + | <br /> | |
− | + | {| class="wikitable sortable" | |
− | ==Diagnostic Testing Methods== | + | |- |
+ | !Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | ||
+ | |- | ||
+ | |NTRK3 fusion; Activating mutations | ||
+ | |Ras-Mek1 and PI3K-Akt pathways | ||
+ | |Increased cell growth and proliferation | ||
+ | |- | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |- | ||
+ | | | ||
+ | | | ||
+ | | | ||
+ | |} | ||
+ | ==Genetic Diagnostic Testing Methods== | ||
− | + | FISH, RT-PCR, RNAseq | |
− | |||
− | |||
− | |||
− | |||
==Familial Forms== | ==Familial Forms== | ||
− | + | <br /> | |
− | == | + | ==Additional Information== |
− | + | <br /> | |
==Links== | ==Links== | ||
− | Put your | + | Put your text placeholder here (use "Link" icon at top of page) |
==References== | ==References== | ||
+ | <references /> | ||
+ | (use "Cite" icon at top of page) | ||
+ | ===EXAMPLE Book=== | ||
− | + | #Secretory carcinoma, in World Health Organization Classification of Tumours of Breast Tumours, Revised 5th edition. Allison KH, Brogi E, Ellis IO, Fox SB, Morris EA, Sahin A, Salgado R, Sapino A, Sasano H, Schnitt SJ, Sotiriou C, van Diest PJ, Editorial board expert members. IARC Press: Lyon, France, p146-148. | |
− | # | ||
− | |||
− | |||
− | |||
− | == 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 16:30, 12 July 2024
Primary Author(s)*
Hui Chen, MD, PhD, The University of Texas MD Anderson Cancer Center
Morteza Seifi, PhD, University of Wisconsin
Cancer Category/Type
Breast Tumours / Epithelial tumours of the breast
Cancer Sub-Classification / Subtype
Rare and salivary gland-type tumours / Secretory carcinoma
Definition / Description of Disease
Secretory carcinoma is a low-grade tumor displaying pushing borders and areas of unequivocal stromal invasion. Tumors may show combinations of microcystic, solid and tubular patterns. The microcystic pattern is composed of irregular shaped small cysts lined with single layer of tumor cells and filled with eosinophilic secretions. The tubular pattern shows luminal eosinophil secretions. The microcystic and tubular patterns can mimic thyroid follicles and can merge into solid islands. Tumor cells are polygonal with granular eosinophilic to foamy cytoplasm. Tumor nuclei are slightly enlarged and regular in shape with inconspicuous nucleoli. Mitotic activity is rare.
Synonyms / Terminology
Synonyms: Juvenile breast carcinoma (historical)
Epidemiology / Prevalence
Rare, < 0.02% of all breast cancers. [1][2]
Initially described in children; most common childhood breast cancer. [3]
Wide age range, bimodal age distribution with peaks in second and seventh decades [1]
M:F = 1:6 to 1:31. [2][4][5][6]
Clinical Features
Put your text here and fill in the table
Signs and Symptoms | Well-circumscribed mobile masses |
Laboratory Findings | Not applicable |
Sites of Involvement
The tumors are commonly seen in sub-areolar area.
Morphologic Features
Microcystic, solid and tubular patterns
Immunophenotype
Put your text here and fill in the table
Finding | Marker |
---|---|
Positive (universal) | S100, EMA, TRK |
Positive (subset) | CEA (polyclonal), mammaglobin, SOX10 |
Negative (universal) | ER, PR, and HER2 |
Negative (subset) |
Chromosomal Rearrangements (Gene Fusions)
Put your text here and fill in the table
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 |
---|---|---|---|---|---|---|---|
t(12;15)(p13;q25) | ETV6::NTRK3 | der(15) | 92% [7] | Yes | Yes | Yes | The ETV6::NTRK3 fusion is diagnostic of secretory carcinoma of breast in the appropriate morphology and clinical context. [7] This fusion is responsive to targeted therapy such as larotrectinib (Vitrakvi) and entrectinib (Rozlytrek). [8] |
Individual Region Genomic Gain/Loss/LOH
Put your text here and fill in the table
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
Put your text here
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 |
Gene Mutations (SNV/INDEL)
Put your text here and fill in the table
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 |
---|---|---|---|---|---|---|---|---|
N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
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
N/A
Genes and Main Pathways Involved
Gene; Genetic Alteration | Pathway | Pathophysiologic Outcome |
---|---|---|
NTRK3 fusion; Activating mutations | Ras-Mek1 and PI3K-Akt pathways | Increased cell growth and proliferation |
Genetic Diagnostic Testing Methods
FISH, RT-PCR, RNAseq
Familial Forms
Additional Information
Links
Put your text placeholder here (use "Link" icon at top of page)
References
- ↑ 1.0 1.1 Horowitz, David P.; et al. (2012-06). "Secretory carcinoma of the breast: results from the survival, epidemiology and end results database". Breast (Edinburgh, Scotland). 21 (3): 350–353. doi:10.1016/j.breast.2012.02.013. ISSN 1532-3080. PMID 22494666. Check date values in:
|date=
(help) - ↑ 2.0 2.1 Jacob, John Doromal; et al. (2016-06). "Rare breast cancer: 246 invasive secretory carcinomas from the National Cancer Data Base". Journal of Surgical Oncology. 113 (7): 721–725. doi:10.1002/jso.24241. ISSN 1096-9098. PMID 27040042. Check date values in:
|date=
(help) - ↑ McDivitt, R. W.; et al. (1966-01-31). "Breast carcinoma in children". JAMA. 195 (5): 388–390. ISSN 0098-7484. PMID 4285563.
- ↑ Arce, C.; et al. (2005-06-17). "Secretory carcinoma of the breast containing the ETV6-NTRK3 fusion gene in a male: case report and review of the literature". World Journal of Surgical Oncology. 3: 35. doi:10.1186/1477-7819-3-35. ISSN 1477-7819. PMC 1184104. PMID 15963235.
- ↑ Li, Dali; et al. (2012-04). "Secretory breast carcinoma: a clinicopathological and immunophenotypic study of 15 cases with a review of the literature". Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc. 25 (4): 567–575. doi:10.1038/modpathol.2011.190. ISSN 1530-0285. PMID 22157932. Check date values in:
|date=
(help) - ↑ Herz, H.; et al. (2000-10). "Metastatic secretory breast cancer. Non-responsiveness to chemotherapy: case report and review of the literature". Annals of Oncology: Official Journal of the European Society for Medical Oncology. 11 (10): 1343–1347. doi:10.1023/a:1008387800525. ISSN 0923-7534. PMID 11106125. Check date values in:
|date=
(help) - ↑ 7.0 7.1 Tognon, Cristina; et al. (2002-11). "Expression of the ETV6-NTRK3 gene fusion as a primary event in human secretory breast carcinoma". Cancer Cell. 2 (5): 367–376. doi:10.1016/s1535-6108(02)00180-0. ISSN 1535-6108. PMID 12450792. Check date values in:
|date=
(help) - ↑ Krebs, M. G.; et al. (2021-04). "Intrapatient comparisons of efficacy in a single-arm trial of entrectinib in tumour-agnostic indications". ESMO open. 6 (2): 100072. doi:10.1016/j.esmoop.2021.100072. ISSN 2059-7029. PMC 8103537 Check
|pmc=
value (help). PMID 33676294 Check|pmid=
value (help). Check date values in:|date=
(help)
(use "Cite" icon at top of page)
EXAMPLE Book
- Secretory carcinoma, in World Health Organization Classification of Tumours of Breast Tumours, Revised 5th edition. Allison KH, Brogi E, Ellis IO, Fox SB, Morris EA, Sahin A, Salgado R, Sapino A, Sasano H, Schnitt SJ, Sotiriou C, van Diest PJ, Editorial board expert members. IARC Press: Lyon, France, p146-148.
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.