Bailey.Glen: Created page with " ==Primary Author(s)*== S. Shawn Liu, MD, PhD and Thuy Phung, MD, PhD TOC ==Cancer Category/Type== Mastocytosis ==Cancer Sub-Classification / Subtype== Cutaneous..."

2023-11-03T17:28:39Z

Created page with " ==Primary Author(s)*== S. Shawn Liu, MD, PhD and Thuy Phung, MD, PhD __TOC__ ==Cancer Category/Type== Mastocytosis ==Cancer Sub-Classification / Subtype== Cutaneous..."

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==Primary Author(s)*==

S. Shawn Liu, MD, PhD and Thuy Phung, MD, PhD

__TOC__

==Cancer Category/Type==

[[Mastocytosis]]

==Cancer Sub-Classification / Subtype==

Cutaneous Mastocytosis

==Definition / Description of Disease==

Cutaneous mastocytosis is a mast cell disorder that primarily affects the skin.

==Synonyms / Terminology==

Urticaria pigmentosa

==Epidemiology / Prevalence==

Cutaneous mastocytosis (CM) most commonly affect children, which is usually diagnosed prior to 2 years old with slight male predominance <ref>{{Cite journal|last=Castells|first=Mariana|last2=Metcalfe|first2=Dean D.|last3=Escribano|first3=Luis|date=2011-08-01|title=Diagnosis and treatment of cutaneous mastocytosis in children: practical recommendations|url=https://pubmed.ncbi.nlm.nih.gov/21668033|journal=American Journal of Clinical Dermatology|volume=12|issue=4|pages=259–270|doi=10.2165/11588890-000000000-00000|issn=1179-1888|pmc=4126834|pmid=21668033}}</ref><ref>{{Cite journal|last=Hartmann|first=Karin|last2=Henz|first2=Beate M.|date=2002-02|title=Cutaneous mastocytosis -- clinical heterogeneity|url=https://pubmed.ncbi.nlm.nih.gov/11919426|journal=International Archives of Allergy and Immunology|volume=127|issue=2|pages=143–146|doi=10.1159/000048187|issn=1018-2438|pmid=11919426}}</ref>. Approximately 80% of patient of mastocytosis develop cutaneous lesion <ref>{{Cite journal|last=Pardanani|first=A.|last2=Akin|first2=C.|last3=Valent|first3=P.|date=2006|title=Pathogenesis, clinical features, and treatment advances in mastocytosis|url=https://pubmed.ncbi.nlm.nih.gov/16781490|journal=Best Practice & Research. Clinical Haematology|volume=19|issue=3|pages=595–615|doi=10.1016/j.beha.2005.07.010|issn=1521-6926|pmid=16781490}}</ref>.

==Clinical Features==

There are three typical variants of cutaneous mastocytosis: 1) urticaria pigmentosa (UP)/maculopapular cutaneous mastocytosis (MPCM), 2) diffuse CM, and 3) mastocytoma of skin. UP/MPCM is the most common type and presents as brown or red macule or macule and papules with melanin pigmentation. Diffuse CM is almost exclusively in childhood and presents as diffusely thickened skin, pachydermia. Familial cases and germline mutations can be associated diffuse CM. Cutaneous mastocytoma is also known as solitary mastocytoma of skin, which is single or less than 3 lesions without predilection for presenting site. In addition, CM cannot be diagnosed if the features or criteria of systemic mastocytosis are met.

==Sites of Involvement==

Cutaneous mastocytosis can present in any location of the body with common involvement of extremities and trunk.

==Morphologic Features==

Histologically, CM demonstrates increased number of mast cells in skin lesion. UP/MPCM reveals spindle-shaped mast cells in papillary dermis with extension to reticular dermis. Diffuse CM demonstrate highest number of mast cells in sheets filling papillary and upper reticular dermis. Cutaneous mastocytoma usually involves subcutaneous tissue with abundant granular cytoplasm of mast cells.

==Immunophenotype==

Put your text here and/or fill in the table

{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive (universal)||CD117; Tryptase
|-
|Positive (subset)||Aberrant CD25 and CD2; CD30 in well-differentiated mastocytosis
|-
|Negative (universal)||B-cell antigens; CD3; CD5; CD7; MPO; CD15; CD21; CD34
|}
==Genomic Gain/Loss/LOH==

Put your text here and/or fill in the table

{| class="wikitable sortable"
|-
!Chromosome Number!!Gain/Loss/Amp/LOH!!Region
|-
|EXAMPLE 8||EXAMPLE Gain||EXAMPLE chr8:0-1000000
|-
|EXAMPLE 7||EXAMPLE Loss||EXAMPLE chr7:0-1000000
|}
==Gene Mutations (SNV/INDEL)==

Put your text here and/or fill in the tables

{| class="wikitable sortable"
|-
!Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other)
|-
|c-KIT||c.2447A>T; p.D816V
(Chr 4: 54733154-54733155)
|Oncogene||GOF||40-80%<ref name=":0">{{Cite journal|last=Bodemer|first=Christine|last2=Hermine|first2=Olivier|last3=Palmérini|first3=Fabienne|last4=Yang|first4=Ying|last5=Grandpeix-Guyodo|first5=Catherine|last6=Leventhal|first6=Phillip S.|last7=Hadj-Rabia|first7=Smail|last8=Nasca|first8=Laurent|last9=Georgin-Lavialle|first9=Sophie|date=2010-03|title=Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations|url=https://pubmed.ncbi.nlm.nih.gov/19865100|journal=The Journal of Investigative Dermatology|volume=130|issue=3|pages=804–815|doi=10.1038/jid.2009.281|issn=1523-1747|pmid=19865100}}</ref><ref>{{Cite journal|last=Longley|first=B. J.|last2=Reguera|first2=M. J.|last3=Ma|first3=Y.|date=2001-07|title=Classes of c-KIT activating mutations: proposed mechanisms of action and implications for disease classification and therapy|url=https://pubmed.ncbi.nlm.nih.gov/11377682|journal=Leukemia Research|volume=25|issue=7|pages=571–576|doi=10.1016/s0145-2126(01)00028-5|issn=0145-2126|pmid=11377682}}</ref>
|-
|c-KIT<ref name=":0" /><ref name=":1">{{Cite journal|last=Longley|first=B. J.|last2=Metcalfe|first2=D. D.|last3=Tharp|first3=M.|last4=Wang|first4=X.|last5=Tyrrell|first5=L.|last6=Lu|first6=S. Z.|last7=Heitjan|first7=D.|last8=Ma|first8=Y.|date=1999-02-16|title=Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis|url=https://pubmed.ncbi.nlm.nih.gov/9990072|journal=Proceedings of the National Academy of Sciences of the United States of America|volume=96|issue=4|pages=1609–1614|doi=10.1073/pnas.96.4.1609|issn=0027-8424|pmc=PMC15534|pmid=9990072}}</ref> <ref name=":2">{{Cite journal|last=Sotlar|first=Karl|last2=Escribano|first2=Luis|last3=Landt|first3=Olfert|last4=Möhrle|first4=Stefanie|last5=Herrero|first5=Sonia|last6=Torrelo|first6=Antonio|last7=Lass|first7=Ulrich|last8=Horny|first8=Hans-Peter|last9=Bültmann|first9=Burkhard|date=2003-03|title=One-step detection of c-kit point mutations using peptide nucleic acid-mediated polymerase chain reaction clamping and hybridization probes|url=https://pubmed.ncbi.nlm.nih.gov/12598308|journal=The American Journal of Pathology|volume=162|issue=3|pages=737–746|doi=10.1016/S0002-9440(10)63870-9|issn=0002-9440|pmc=1868096|pmid=12598308}}</ref>
|c.2446G>T; p.D816Y (Chr 4: 54733153-54733154)
|Oncogene
|GOF
|
|-
|c-KIT<ref name=":0" />
|c.2446_2447delinsAT; p.D816I (Chr 4: 54733153-54733155)
|Oncogene
|GOF
|
|-
|c-KIT<ref name=":0" />
|c.1715A>C; p.D572A (Chr 4: 54727482-54727483)
|Oncogene
|GOF
|
|-
|c-KIT<ref name=":0" />
|c.1526A>T; p.K509I (Chr 4: 54726035-54726036)
|Oncogene
|LOF
|
|-
|c-KIT<ref name=":0" />
|c.1621A>C; p.M541L (Chr 4: 54727297-54727298)
|Oncogene
|LOF
|
|-
|c-KIT<ref name=":0" />
|c.1328G>A; p.C443Y (Chr 4: 54723679-54723680)
|Oncogene
|LOF
|
|-
|c-KIT<ref name=":0" />
|c.1427G>T; p.S476I (Chr 4: 54725936-54725937)
|Oncogene
|LOF
|
|-
|c-KIT<ref name=":0" />
|c.1255_1257del; p.D419del (Chr 4: 54723606-54723609)
|Oncogene
|
|
|-
|c-KIT<ref name=":0" />
|c.1249_1255delinsT; p.T417_D419delinsY (Chr 4: 54723601-54723607)
|Oncogene
|LOF
|
|-
|c-KIT<ref name=":0" />
|c.1255insTTCTTC; p.D419insFF (Chr 4: 54723606-54723607)
|Oncogene
|
|
|-
|c-KIT<ref name=":0" />
|c.1500_1505dup; p.S501‐A502dup (Chr 4: 54726014-54726016)
|Oncogene
|
|
|-
|c-KIT<ref name=":0" />
|ITD AY502‐503
|Oncogene
|LOF
|
|-
|c-KIT<ref name=":0" />
|ITD NFAF505‐508
|Oncogene
|
|
|-
|c-KIT
|D815K
|Oncogene
|
|<5% <ref name=":2" />
|-
|c-KIT<ref name=":1" />
|E839K
|Oncogene
|LOF
|
|-
|c-KIT
|c.2446_2447delincTT; p.D816F (Chr 4: 54733153-54733155)
|Oncogene
|GOF
|<5%<ref name=":1" /><ref name=":2" />
|-
|c-KIT
|c.2446_2448delinsCAT; p.D816H (Chr 4: 54733153-54733156)
|Oncogene
|GOF
|<5% <ref>{{Cite journal|last=Pullarkat|first=V. A.|last2=Pullarkat|first2=S. T.|last3=Calverley|first3=D. C.|last4=Brynes|first4=R. K.|date=2000-12|title=Mast cell disease associated with acute myeloid leukemia: detection of a new c-kit mutation Asp816His|url=https://pubmed.ncbi.nlm.nih.gov/11074560|journal=American Journal of Hematology|volume=65|issue=4|pages=307–309|doi=10.1002/1096-8652(200012)65:43.0.co;2-f|issn=0361-8609|pmid=11074560}}</ref>
|-
|c-KIT
|c.2459A>G; p.D820G (Chr 4: 54733166-54733167)
|Oncogene
|
|<5% <ref>{{Cite journal|last=Pignon|first=J. M.|last2=Giraudier|first2=S.|last3=Duquesnoy|first3=P.|last4=Jouault|first4=H.|last5=Imbert|first5=M.|last6=Vainchenker|first6=W.|last7=Vernant|first7=J. P.|last8=Tulliez|first8=M.|date=1997-02|title=A new c-kit mutation in a case of aggressive mast cell disease|url=https://pubmed.ncbi.nlm.nih.gov/9029028|journal=British Journal of Haematology|volume=96|issue=2|pages=374–376|doi=10.1046/j.1365-2141.1997.d01-2042.x|issn=0007-1048|pmid=9029028}}</ref>
|-
|c-KIT
|c.2449A>G; p.I817V (Chr 4: 54733156-54733157)
|Oncogene
|
|<5% <ref name=":3">{{Cite journal|last=Garcia-Montero|first=Andres C.|last2=Jara-Acevedo|first2=Maria|last3=Teodosio|first3=Cristina|last4=Sanchez|first4=Maria Luz|last5=Nunez|first5=Rosa|last6=Prados|first6=Aranzazu|last7=Aldanondo|first7=Isabel|last8=Sanchez|first8=Laura|last9=Dominguez|first9=Mercedes|date=2006-10-01|title=KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients|url=https://pubmed.ncbi.nlm.nih.gov/16741248|journal=Blood|volume=108|issue=7|pages=2366–2372|doi=10.1182/blood-2006-04-015545|issn=0006-4971|pmid=16741248}}</ref>
|-
|c-KIT
|c.2446_2447insTCATAG; p.R815_D816insVI (Chr 4: 54733153-54733155)
|Oncogene
|
|<5% <ref name=":3" />
|-
|c-KIT
|c.1598C>A; p.A533D (Chr 4: 54727274-54727275)
|Oncogene
|Germline
|<5% <ref name=":6">{{Cite journal|last=Tang|first=X.|last2=Boxer|first2=M.|last3=Drummond|first3=A.|last4=Ogston|first4=P.|last5=Hodgins|first5=M.|last6=Burden|first6=A. D.|date=2004-06|title=A germline mutation in KIT in familial diffuse cutaneous mastocytosis|url=https://pubmed.ncbi.nlm.nih.gov/15173254|journal=Journal of Medical Genetics|volume=41|issue=6|pages=e88|doi=10.1136/jmg.2003.015156|issn=1468-6244|pmc=1735799|pmid=15173254}}</ref>
|-
|c-KIT
|F522C
|Oncogene
|Germline
|<5% <ref name=":7">{{Cite journal|last=Akin|first=Cem|last2=Fumo|first2=Gerard|last3=Yavuz|first3=Akif S.|last4=Lipsky|first4=Peter E.|last5=Neckers|first5=Len|last6=Metcalfe|first6=Dean D.|date=2004-04-15|title=A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib|url=https://pubmed.ncbi.nlm.nih.gov/15070706|journal=Blood|volume=103|issue=8|pages=3222–3225|doi=10.1182/blood-2003-11-3816|issn=0006-4971|pmid=15070706}}</ref>
|-
|c-KIT
|Y560G
|Oncogene
|
|<5%<ref>{{Cite journal|last=Lim|first=Ken-Hong|last2=Tefferi|first2=Ayalew|last3=Lasho|first3=Terra L.|last4=Finke|first4=Christy|last5=Patnaik|first5=Mrinal|last6=Butterfield|first6=Joseph H.|last7=McClure|first7=Rebecca F.|last8=Li|first8=Chin-Yang|last9=Pardanani|first9=Animesh|date=2009-06-04|title=Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors|url=https://pubmed.ncbi.nlm.nih.gov/19363219|journal=Blood|volume=113|issue=23|pages=5727–5736|doi=10.1182/blood-2009-02-205237|issn=1528-0020|pmid=19363219}}</ref>
|-
|TET2 <ref name=":4">{{Cite journal|last=Tefferi|first=A.|last2=Levine|first2=R. L.|last3=Lim|first3=K.-H.|last4=Abdel-Wahab|first4=O.|last5=Lasho|first5=T. L.|last6=Patel|first6=J.|last7=Finke|first7=C. M.|last8=Mullally|first8=A.|last9=Li|first9=C.-Y.|date=2009-05|title=Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates|url=https://pubmed.ncbi.nlm.nih.gov/19262599|journal=Leukemia|volume=23|issue=5|pages=900–904|doi=10.1038/leu.2009.37|issn=1476-5551|pmc=4654631|pmid=19262599}}</ref>
|1777_1778insG
|Suppressor
|
|
|-
|TET2<ref name=":4" />
|723_724delAG
|Suppressor
|
|
|-
|TET2<ref name=":4" />
|3248_delT
|Suppressor
|
|
|-
|TET2<ref name=":4" />
|278_279insA
|Suppressor
|
|
|-
|TET2<ref name=":4" />
|1554_delG
|Suppressor
|
|
|-
|TET2<ref name=":4" />
|1305A>G
|Suppressor
|
|
|-
|TET2<ref name=":4" />
|2628C>T
|Suppressor
|
|
|-
|TET2<ref name=":4" />
|231C>T
|Suppressor
|
|
|-
|TET2<ref name=":4" />
|695_696insT
|Suppressor
|
|
|-
|TET2<ref name=":4" />
|3070_3071insA
|Suppressor
|
|
|-
|TET2<ref name=":4" />
|955-956insT
|Suppressor
|
|
|-
|TET2<ref name=":4" />
|2812-2813insT
|Suppressor
|
|
|-
|TET2<ref name=":4" />
|252_262delCTCTACAGAAG
|Suppressor
|
|
|-
|TET2<ref name=":4" />
|236_delG
|Suppressor
|
|
|-
|TET2<ref name=":4" />
|2468_2469insA
|Suppressor
|
|
|-
|TET2<ref name=":4" />
|208C>T
|Suppressor
|
|
|-
|NRAS<ref name=":5">{{Cite journal|last=Wilson|first=Todd M.|last2=Maric|first2=Irina|last3=Simakova|first3=Olga|last4=Bai|first4=Yun|last5=Chan|first5=Eunice Ching|last6=Olivares|first6=Nicolas|last7=Carter|first7=Melody|last8=Maric|first8=Dragan|last9=Robyn|first9=Jamie|date=2011-03|title=Clonal analysis of NRAS activating mutations in KIT-D816V systemic mastocytosis|url=https://pubmed.ncbi.nlm.nih.gov/21134978|journal=Haematologica|volume=96|issue=3|pages=459–463|doi=10.3324/haematol.2010.031690|issn=1592-8721|pmc=3046279|pmid=21134978}}</ref>
|c.35G>A; p.G12D (Chr 1: 114716125-114716126)
|Oncogene
|
|
|-
|NRAS<ref name=":5" />
|c.38G>A; p.G13D (Chr 1: 114716122-114716123)
|Oncogene
|
|
|}
===Other Mutations===
{| class="wikitable sortable"
|-
!Type!!Gene/Region/Other
|-
|Concomitant Mutations||EXAMPLE IDH1 R123H
|-
|Secondary Mutations||EXAMPLE Trisomy 7
|-
|Mutually Exclusive||EXAMPLE EGFR Amplification
|}

==Familial Forms==

c-KIT A533D <ref name=":6" />

c-KIT F522C <ref name=":7" />

==References==
(use "Cite" icon at top of page)
<references />
==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.

HAEM4Backup:Cutaneous Mastocytosis - Revision history

Bailey.Glen: Created page with " ==Primary Author(s)*== S. Shawn Liu, MD, PhD and Thuy Phung, MD, PhD __TOC__ ==Cancer Category/Type== Mastocytosis ==Cancer Sub-Classification / Subtype== Cutaneous..."

Bailey.Glen: Created page with " ==Primary Author(s)*== S. Shawn Liu, MD, PhD and Thuy Phung, MD, PhD TOC ==Cancer Category/Type== Mastocytosis ==Cancer Sub-Classification / Subtype== Cutaneous..."