Volunteer Assignments and Opportunities: Difference between revisions

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Welcome! 


*For assignments, please see the "Author" column below.  If no name is present, volunteer to create content!
*We will be creating content for all entities with genetic findings in the current WHO Classification of Tumours books.  '''<u>If there is an entity not yet listed below that you would like to author in any WHO book, we would be happy to create a page for you now</u>'''.
*To volunteer, please '''[Mailto:CCGA@cancergenomics.org <u>Contact us</u>]''' with your page of interest.
*'''<u>NOTE: A new version of the Heme/Lymphoid book (5th edition) is in beta form on the WHO website with publication of a final form anticipated by mid-2023; we're working on a plan to align the related CCGA content to the new structure.</u>'''
__TOC__
==WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues Content==
{| class="wikitable"
{| class="wikitable"
|+WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues Content
|-
|-
!'''Disease'''!!'''Page Type'''!!'''Author'''
!'''Disease'''!!'''Page Type'''!!'''Author'''
Line 25: Line 17:
|
|
|Fabiola Quintero-Rivera (FQR)
|Fabiola Quintero-Rivera (FQR)
|Date page was created
|
|
|
|-
|-
Line 35: Line 27:
|
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|FQR
|FQR
|Date page was created
|
|
|
|-
|-
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|FQR
|FQR
|Date page was created
|
|
|
|-
|-
Line 69: Line 61:
|-
|-
|    Essential  Thrombocythaemia (ET)||Disease
|    Essential  Thrombocythaemia (ET)||Disease
|Rebecca Smith
|Rebecca Smith (trainee) + Fabiola Quintero-Rivera
|
|
|
|
|complete
|complete/pending faculty review
|
|
|FQR
|FQR
|
|
|8/1/21 FQR deleted "'''This page is under construction'''
|
|-
|-
|    Chronic Eosinophilic  Leukemia, Not Otherwise Specified||Disease
|    Chronic Eosinophilic  Leukemia, Not Otherwise Specified||Disease
|Chelsea D. Kramish (trainee), Daynna J.Wolff
|(trainee), Daynna J.Wolff
|
|
|
|
|complete/pending faculty review
|pending faculty review
|
|
|FQR
|FQR
Line 90: Line 82:
|    Myeloproliferative  Neoplasm (MPN), Unclassifiable||Disease
|    Myeloproliferative  Neoplasm (MPN), Unclassifiable||Disease
|Thomas Lee
|Thomas Lee
|
|8/17/2020
|
|9/7/2020
|complete
|complete
|
|
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|
|
|-
|-
|'''''Mastocytosis'''''||'''''Overview'''''||Shashi Shetty, Ph.D.
|'''''Mastocytosis'''''||'''''Overview'''''||'''Shashi Shetty, Ph.D.'''
|
|
|
|
Line 107: Line 99:
|-
|-
|    Cutaneous  Mastocytosis||Disease
|    Cutaneous  Mastocytosis||Disease
|Thuy Phung + Shuo-Shawn Liu (trainee)
|Thuy Phung/Shuo-Shawn Liu
|
|
|
|
|complete
|complete/pending adding content online as of 2/4/21
|
|
|FQR
|FQR
|
|
|8/1/21 FQR deleted "'''This page is under construction'''
|
|-
|-
|    Systemic Mastocytosis||Disease
|    Systemic Mastocytosis||Disease
Line 127: Line 119:
|-
|-
|    Mast Cell Sarcoma||Disease
|    Mast Cell Sarcoma||Disease
|Thuy Phung +Jordan Lowery (trainee)
|Thuy Phung +Jordan Lowery
|
|
|
|
Line 183: Line 175:
|Myeloid/Lymphoid Neoplasms with ETV6-JAK2
|Myeloid/Lymphoid Neoplasms with ETV6-JAK2
|Disease
|Disease
|Lauren R. Crowson-Hindman (trainee) + Daynna J. Wolff
|Lauren R. Crowson (trainee)-Hindman + Daynna J. Wolff
|
|
|
|
Line 194: Line 186:
|Myeloid/Lymphoid Neoplasms with BCR-JAK2
|Myeloid/Lymphoid Neoplasms with BCR-JAK2
|Disease
|Disease
|Lauren R. Crowson-Hindman (trainee) + Daynna J. Wolff
|Lauren R. Crowson (trainee) + Daynna J. Wolff
|
|
|
|
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|
|
|9/1/20
|9/1/20
|PENDING importing content and reference formatting
|PENDING
|
|
|FQR
|FQR
|
|
|FQR has emailed SR several times, last 4/20/22
|
|-
|-
|     Myelodysplastic/Myeloproliferative Neoplasms with Ring Sideroblasts  and Thrombocytosis (MDS/MPN-RS-T)||Disease||Anamaria Munteanu (trainee)+Fabiola Quintero-Rivera
|     Myelodysplastic/Myeloproliferative Neoplasms with Ring Sideroblasts  and Thrombocytosis (MDS/MPN-RS-T)||Disease||Anamaria Munteanu (trainee)+Fabiola Quintero-Rivera
Line 245: Line 237:
|
|
|FQR
|FQR
|Date page was created
|
|
|
|-
|-
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|
|
|-
|-
|'''''Myelodysplastic Syndromes (MDS)'''''||'''''Overview'''''||Jack Reid (trainee)+Fabiola Quintero-Rivera
|'''''Myelodysplastic Syndromes (MDS)'''''||'''''Overview'''''||Teresa Smolarek?
|
|
|4/21/22
|9/1/20
|pending
|pending
|
|
Line 295: Line 287:
|    Myelodysplastic Syndrome (MDS) with  Multilineage Dysplasia||Disease||Xiaoli Du(trainee)+Teresa Smolarek
|    Myelodysplastic Syndrome (MDS) with  Multilineage Dysplasia||Disease||Xiaoli Du(trainee)+Teresa Smolarek
|
|
|
|9/1/20
|Complete
|PENDING
|
|
|FQR
|FQR
Line 305: Line 297:
|
|
|9/1/20
|9/1/20
|Complete
|PENDING
|
|
|FQR
|FQR
Line 332: Line 324:
|
|
|9/1/20
|9/1/20
|Complete
|PENDING
|
|
|FQR
|FQR
Line 366: Line 358:
|
|
|
|
|''<s>PENDING</s> Complete - awaiting clarification''
|PENDING
| ||JH / MS
| ||JH / MS
|04/26/2021 -MS (re-review)
|04/26/2021 -MS (re-review)
|Review completed, awaiting some clarification from JH - 07/04/2022
|
|-
|-
|    Myeloid Neoplasms with Germline DDX41  Mutation||Disease||Fei Yang
|    Myeloid Neoplasms with Germline DDX41  Mutation||Disease||Fei Yang
Line 476: Line 468:
|
|
|-
|-
|    Acute Myeloid Leukemia (AML) with  BCR-ABL1||Disease||Kay Weng Choy + Greg
|    Acute Myeloid Leukemia (AML) with  BCR-ABL1||Disease||Kay Weng Choy + Greg Conboy (Monash Health)
Corboy (Monash Health)
|
|
|
|
Line 485: Line 476:
|
|
|-
|-
|    Acute Myeloid Leukemia (AML) with  Mutated NPM1||Disease||Xinjie Xu
|    Acute Myeloid Leukemia (AML) with  Mutated NPM1||Disease||Xinjie Xu+Kay Weng Choy + Greg Conboy (Monash Health)
|
|
|
|
Line 493: Line 484:
|Add WHO reference
|Add WHO reference
|-
|-
|    Acute Myeloid Leukemia (AML) with  Biallelic Mutations of CEBPA||Disease||Paul deFazio, MSc + Greg  Corboy (Monash Health)
|    Acute Myeloid Leukemia (AML) with  Biallelic Mutations of CEBPA||Disease||Paul deFazio, MSc + Greg  Conboy (Monash Health)
|
|
|
|
Line 711: Line 702:
|Acute  Myeloid Leukemia (AML) with Mutated FLT3
|Acute  Myeloid Leukemia (AML) with Mutated FLT3
|Disease
|Disease
|Kay Weng Choy + Greg Corboy (Monash Health)
|Kay Weng Choy + Greg Conboy (Monash Health)
|
|
|
|
Line 766: Line 757:
|
|
|-
|-
|    B-Lymphoblastic  Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1    ||Disease||Afia Hasnain (trainee) + Yassmine Akkari
|    B-Lymphoblastic  Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1    ||Disease||Afia Hasnain + Yassmine Akkari
|
|
|
|
Line 838: Line 829:
|
|
|
|
|Complete
|PENDING
| ||YA
| ||YA
|
|
Line 931: Line 922:
| ||YA
| ||YA
|
|
|2021 template added
|
|-
|-
|NK-Lymphoblastic Leukemia/Lymphoma||Disease||Fei Yang
|NK-Lymphoblastic Leukemia/Lymphoma||Disease||Fei Yang
Line 939: Line 930:
| ||YA
| ||YA
|
|
|2021 template added
|
|-
|-
| || ||
| || ||
Line 973: Line 964:
|SP
|SP
|
|
|2021 template added
|
|-
|-
|B-cell Prolymphocytic Leukemia||Disease||Zejuan Li
|B-cell Prolymphocytic Leukemia||Disease||
|4/28/22
|
|
|
|
|PENDING
|
|
|SP
|SP
|
|
|2021 template added
|
|-
|-
|Splenic Marginal Zone Lymphoma||Disease||Snehal Patel
|Splenic Marginal Zone Lymphoma||Disease||Snehal Patel
Line 1,029: Line 1,020:
|
|
|-
|-
|Lymphoplasmacytic Lymphoma||Disease||Kapitolina Semenova (trainee)+Fabiola Quintero-Rivera
|Lymphoplasmacytic Lymphoma||Disease||
|
|
|
|
|
|PENDING review  by FQR
|
|
|SP
|SP
|
|
|2021 template added
|
|-
|-
|   Waldenstrom  Macroglobulinemia||Disease||Kapitolina Semenova (trainee)+Fabiola Quintero-Rivera
|   Waldenstrom  Macroglobulinemia||Disease||
|
|
|
|
|
|PENDING review  by FQR
|
|
|SP
|SP
|
|
|2021 template added
|
|-
|-
|IgM Monoclonal Gammopathy of Undetermined Significance||Disease||
|IgM Monoclonal Gammopathy of Undetermined Significance||Disease||
Line 1,132: Line 1,123:
|
|
|-
|-
|'''''    Monoclonal  Immunoglobulin Deposition Diseases'''''||'''''Overview'''''||Chen Yang, MD, PhD
|'''''    Monoclonal  Immunoglobulin Deposition Diseases'''''||'''''Overview'''''||
|
|
|
|
|Complete
|
|09/10/2022||SP
| ||SP
|
|
|
|
|-
|-
|           Primary  Amyloidosis||Disease||Heather E. Williams, PhD
|           Primary  Amyloidosis||Disease||
|
|
|
|
|
|?PENDING
| ||SP
| ||SP
|
|
|
|
|-
|-
|           Light Chain and Heavy Chain Deposition Disease||Disease||Chen Yang, MD, PhD
|           Light Chain and Heavy Chain Deposition Disease||Disease||
|
|
|
|
|
|Complete
| ||SP
|10/15/2022||SP
|
|
|
|
|-
|-
|'''''Plasma Cell Neoplasms with Associated Paraneoplastic Syndrome'''''||'''''Overview'''''||Sohini Anand
|'''''Plasma Cell Neoplasms with Associated Paraneoplastic Syndrome'''''||'''''Overview'''''||
|8/31/2021
|
|9/15/2021
|
|PENDING
|
| ||SP
| ||SP
|
|
|
|
|-
|-
|         POEMS Syndrome||Disease||Sohini Anand, MBBS, and Tharanga Niroshini Senaratne, PhD
|         POEMS Syndrome||Disease||
|
|
|
|
|
|?PENDING
| ||SP
| ||SP
|
|
|
|
|-
|-
|         TEMPI Syndrome||Disease||Sohini Anand, MBBS
|         TEMPI Syndrome||Disease||
|
|
|
|
|
|?PENDING
| ||SP
| ||SP
|
|
|
|
|-
|-
|Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue (MALT Lymphoma)||Disease||Whayoung Lee (trainee)/Fabiola Quintero-Rivera
|Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue (MALT Lymphoma)||Disease||Whayoung Lee, trainee)/Fabiola Quintero-Rivera
|3/9/21
|3/9/21
|
|
Line 1,187: Line 1,178:
|SP
|SP
|
|
|2021 template added
|
|-
|-
|Nodal Marginal Zone Lymphoma||Disease||Shivani Golem
|Nodal Marginal Zone Lymphoma||Disease||Shivani Golem
Line 1,197: Line 1,188:
|
|
|-
|-
|    Paediatric Nodal Marginal Zone Lymphoma||Disease||Ruthann Pfau, Kathleen Schieffer (trainee)
|    Paediatric Nodal Marginal Zone Lymphoma||Disease||Ruthann Pfau, Kathleen Schieffer (trainee)
|
|
|
|
Line 1,215: Line 1,206:
|
|
|-
|-
|    Testicular Follicular Lymphoma||Disease||Ruthann Pfau
|    Testicular Follicular Lymphoma||Disease||Ruthann Pfau
|
|
|
|
Line 1,224: Line 1,215:
|
|
|-
|-
|    In Situ Follicular Neoplasia||Disease||Ruthann Pfau
|    In Situ Follicular Neoplasia||Disease||Ruthann Pfau
|
|
|
|
Line 1,233: Line 1,224:
|
|
|-
|-
|    Duodenal-Type Follicular Lymphoma||Disease||Ruthann Pfau
|    Duodenal-Type Follicular Lymphoma||Disease||Ruthann Pfau
|
|
|
|
Line 1,262: Line 1,253:
|
|
|
|
|Complete
|PENDING
|09/10/2022
| ||SP
|SP
|
|
|
|
Line 1,277: Line 1,267:
|
|
|-
|-
|    Leukemic Non-Nodal  Mantle Cell Lymphoma||Disease||Mahsa Khanlari, MD
|    Leukemic Non-Nodal  Mantle Cell Lymphoma||Disease||
|
|
|
|
|
|?PENDING
|
|
|SP
|SP
Line 1,286: Line 1,276:
|
|
|-
|-
|    In Situ Mantle Cell  Neoplasia||Disease||Rina Kansal, MD
|    In Situ Mantle Cell  Neoplasia||Disease||
|6/12/22
|
|
|
|
|
|Complete
|7/26/2022
|SP
|SP
|
|
|2021 template added
|
|-
|-
| || ||
| || ||
Line 1,310: Line 1,300:
|Greg Corboy (GC)
|Greg Corboy (GC)
|
|
|Requested to update 14022022
|
|-
|-
|T-cell/Histiocyte-Rich Large B-cell Lymphoma||Disease||
|T-cell/Histiocyte-Rich Large B-cell Lymphoma||Disease||
Line 1,320: Line 1,310:
|
|
|-
|-
|Primary Diffuse Large B-cell Lymphoma of the CNS||Disease||Laveniya Satgunaseelan
|Primary Diffuse Large B-cell Lymphoma of the CNS||Disease||
|26/10/2021
|26/1/2022
|Complete
|03/28/22||GC
|03/28/22
|2021 template added
|-
|Primary Cutaneous Diffuse Large B-cell Lymphoma, Leg Type||Disease||
|
|
|
|
Line 1,336: Line 1,318:
|
|
|-
|-
|EBV-Positive Diffuse Large B-cell Lymphoma, Not Otherwise  Specified (NOS)||Disease||
|Primary Cutaneous Diffuse Large B-cell Lymphoma, Leg Type||Disease||
|
|
|
| ||GC
|
|
|-
|EBV-Positive Diffuse Large B-cell Lymphoma, Not Otherwise  Specified (NOS)||Disease||
|
|
|
|
Line 1,384: Line 1,374:
|
|
|-
|-
|Intravascular Large B-cell Lymphoma||Disease||Kate Berry, Greg Corboy
|Intravascular Large B-cell Lymphoma||Disease||
|25/01/2022
|
|25/4/2022
|
|Complete
|
|9/1/22||GC
| ||GC
|9/1/22
|
|Emailed 28/3/2022 for progress update
|
|-
|-
|ALK-Positive Large B-cell Lymphoma||Disease||Nakasaki Manando
|ALK-Positive Large B-cell Lymphoma||Disease||
|
|
|
|
|
|PENDING
| ||GC
| ||GC
|
|
|Nakasaki Manando removed March 2022 due to no progress/contact 1y. Added Nakasaki Manando back n 8/29/22 based on newer email communication (Jennelle's note).  2021 template added.
|
|-
|-
|Plasmablastic Lymphoma||Disease||Mark Evans (trainee), Fabiola Quintero-Rivera
|Plasmablastic Lymphoma||Disease||Mark Evans (trainee), Fabiola Quintero-Rivera
Line 1,405: Line 1,395:
|Complete
|Complete
| ||GC
| ||GC
|28/03/2022
|
|
|
|-
|-
Line 1,424: Line 1,414:
|
|
|-
|-
|   Multicentric Castleman  Disease||Disease||Sudha Arumugam
|   Multicentric Castleman  Disease||Disease||
|10/26/2021
|
|1/26/2022
|
|Complete
|24/01/2022||GC
|24/01/2022
|2021 template added
|-
|   HHV8-Positive Diffuse  Large B-cell Lymphoma, Not Otherwise Specified (NOS)||Disease||Xiao Zhou, MD, PhD, Siparadigm
|10/26/2021
|1/26/2022
|PENDING
| ||GC
|
|
|Emailed 28/3/2022 for progress update
|-
|   HHV8-Positive  Germinotropic Lymphoproliferative Disorder||Disease||Xiao Zhou, MD, PhD, Siparadigm
|10/26/2021
|1/26/2022
|PENDING
| ||GC
| ||GC
|
|
|Emailed 28/3/2022 for progress update
|-
|Burkitt Lymphoma||Disease||Becky Leung (trainee), Greg Corboy
|3/11/21
|06/28/2021
|Complete
|28/06/2021||GC
|28/06/2021
|
|
|-
|-
|Burkitt-Like Lymphoma with 11q Aberration||Disease||Lauren Shealy (trainee), Daynna Wolff
|   HHV8-Positive Diffuse  Large B-cell Lymphoma, Not Otherwise Specified (NOS)||Disease||
|10/13/21
|01/13/2022
|Complete
|27/01/2022
|GC
|27/01/2021
|2021 template added
|-
|'''''High-Grade B-cell Lymphoma'''''||'''''Overview'''''||
|
|
|
|
Line 1,473: Line 1,430:
|
|
|-
|-
|    High-Grade B-cell Lymphoma with MYC and BCL2 and/or BCL6 Rearrangements||Disease||Kate Berry, Greg Corboy
|   HHV8-Positive Germinotropic Lymphoproliferative Disorder||Disease||
|30/05/21
|
|30/08/21
|Complete
|24/02/2022||GC
|24/02/2022
|
|
|-
|    High-Grade B-cell  Lymphoma, Not Otherwise Specified (NOS)||Disease||Aiko Otsubo, Holli Drendel
|7/30/21
|10/30/21
|Complete
|15/11/2021
|GC
|16/11/2021
|
|
|-
| ||GC
|B-cell Lymphoma, Unclassifiable, with Features Intermediate Between Diffuse Large B-cell Lymphoma and Classic Hodgkin Lymphoma||Disease||
|
|
|
|
|-
|Burkitt Lymphoma||Disease||Becky Leung (trainee), Greg Corboy
|3/11/21
|
|
|PENDING
| ||GC
| ||GC
|
|
|
|
|-
|-
| || ||
|Burkitt-Like Lymphoma with 11q Aberration||Disease||
|
|
|
|
|
|
| ||
| ||GC
|
|
|
|
|-
|-
|'''''Mature T- and NK-cell Neoplasms'''''||'''''Overview'''''||
|'''''High-Grade B-cell Lymphoma'''''||'''''Overview'''''||
|
|
|
|
|
|
| ||Snehal Patel (SP)
| ||GC
|
|
|
|
|-
|-
|T-cell Prolymphocytic Leukemia||Disease||Michelle Don
|    High-Grade B-cell Lymphoma with MYC and BCL2 and/or BCL6 Rearrangements||Disease||
|
|
|
|
|
|PENDING
| ||GC
| ||SP
|
|
|
|
|-
|-
|T-cell Large Granular Lymphocytic Leukemia||Disease||Michelle Don
|    High-Grade B-cell Lymphoma, Not Otherwise Specified (NOS)||Disease||
|
|
|
|
|
|PENDING
| ||GC
| ||SP
|
|
|
|
|-
|-
|Chronic Lymphoproliferative Disorder of NK Cells||Disease||Michelle Don
|B-cell Lymphoma, Unclassifiable, with Features Intermediate  Between Diffuse Large B-cell Lymphoma and Classic Hodgkin Lymphoma||Disease||
|
|
|
|
|
|PENDING
| ||GC
| ||SP
|
|
|
|
|-
|-
|Aggressive NK-cell Leukemia||Disease||Shanelle De Lancy, MD, Shashirekha Shetty, PhD
| || ||
|
|
|
|
|?PENDING
|
| ||SP
| ||
|
|
|
|
|-
|-
|'''''EBV-Positive T-cell and NK-cell Lymphoproliferative Diseases of  Childhood'''''||'''''Overview'''''||
|'''''Mature T- and NK-cell Neoplasms'''''||'''''Overview'''''||
|
|
|
| ||Snehal Patel (SP)
|
|
|
|-
|T-cell Prolymphocytic Leukemia||Disease||Michelle Don
|
|
|
|
|PENDING
| ||SP
| ||SP
|
|
|
|
|-
|-
|  Systemic EBV-Positive  T-cell Lymphoma of Childhood||Disease||Lisa Lansdon (trainee)
|T-cell Large Granular Lymphocytic Leukemia||Disease||Michelle Don
|
|
|
|
|Complete
|PENDING
|11/21/2021||SP
| ||SP
|
|
|
|
|-
|-
|   Chronic Active EBV  Infection of T- and NK-cell Type, Systemic Form||Disease||
|Chronic Lymphoproliferative Disorder of NK Cells||Disease||Michelle Don
|
|
|
|
|
|PENDING
| ||SP
| ||SP
|
|
|
|
|-
|-
|    Hydroa Vacciniforme-Like Lymphoproliferative Disorder||Disease||
|Aggressive NK-cell Leukemia||Disease||
|
|
|
|
Line 1,578: Line 1,534:
|
|
|-
|-
|    Severe Mosquito Bite Allergy||Disease||
|'''''EBV-Positive T-cell and NK-cell Lymphoproliferative Diseases of Childhood'''''||'''''Overview'''''||
|
|
|
|
Line 1,586: Line 1,542:
|
|
|-
|-
|Adult T-cell Leukemia/Lymphoma||Disease||Prasad R. Kopparapu, PhD and Ferrin C. Wheeler, PhD, FACMG
|  Systemic EBV-Positive  T-cell Lymphoma of Childhood||Disease||Lisa Lansdon (trainee)
|
|
|
|
|?PENDING
|PENDING
| ||SP
| ||SP
|
|
|
|
|-
|-
|Extranodal NK/T-cell Lymphoma, Nasal Type||Disease||
|   Chronic Active EBV  Infection of T- and NK-cell Type, Systemic Form||Disease||
|
|
|
|
Line 1,602: Line 1,558:
|
|
|-
|-
|'''''Intestinal T-cell Lymphoma'''''||'''''Overview'''''||Sumire Kitahara, Derick Okwan (trainee)
|    Hydroa  Vacciniforme-Like Lymphoproliferative Disorder||Disease||
|
|
|
|
|
|Complete
| ||SP
|9/26/2022
|SP
|
|
|
|
|-
|-
|     Enteropathy-Associated T-cell Lymphoma||Disease||Sumire Kitahara, Derick Okwan (trainee)
|    Severe Mosquito Bite  Allergy||Disease||
|
|
|
| ||SP
|
|
|-
|Adult T-cell Leukemia/Lymphoma||Disease||
|
|
|
| ||SP
|
|
|-
|Extranodal NK/T-cell Lymphoma, Nasal Type||Disease||
|
|
|
| ||SP
|
|
|-
|'''''Intestinal T-cell Lymphoma'''''||'''''Overview'''''||Sumire Kitahara, Derick Okwan (trainee)
|
|
|PENDING
|
|SP
|
|
|-
|     Enteropathy-Associated T-cell Lymphoma||Disease||Sumire Kitahara, Derick Okwan (trainee)
|
|
|
|
Line 1,632: Line 1,620:
|
|
|
|
|Complete
|PENDING
|9/26/2022
|
|SP
|SP
|
|
Line 1,672: Line 1,660:
|
|
|-
|-
|Sézary Syndrome||Disease||Daynna Wolff, Madison Hannay (trainee), Tingting Barrett (trainee)
|Sézary Syndrome||Disease||Daynna Wolff, Madison Hannay (trainee)
|
|
|
|
Line 1,680: Line 1,668:
|
|
|-
|-
|'''''Primary Cutaneous CD30 Positive T-cell Lymphoproliferative  Disorders'''''||'''''Overview'''''||Peining Li, PhD
|'''''Primary Cutaneous CD30 Positive T-cell Lymphoproliferative  Disorders'''''||'''''Overview'''''||
|
|
|
|
|
|PENDING
| ||SP
| ||SP
|
|
|
|
|-
|-
|    Lymphomatoid  Papulosis||Disease||Peining Li, PhD
|    Lymphomatoid  Papulosis||Disease||
|
|
|
|
|
|PENDING
| ||SP
| ||SP
|
|
|
|
|-
|-
|    Primary Cutaneous Anaplastic Large Cell Lymphoma||Disease||Theresa Spivey, MD, Shashirekha Shetty, PhD
|    Primary Cutaneous Anaplastic Large Cell Lymphoma||Disease||
|
|
|
|
|
|PENDING
| ||SP
| ||SP
|
|
|
|
|-
|-
|'''''Primary Cutaneous Peripheral T-cell Lymphomas, Rare Subtypes'''''||'''''Overview'''''||Peining Li, PhD
|'''''Primary Cutaneous Peripheral T-cell Lymphomas, Rare Subtypes'''''||'''''Overview'''''||
|
|
|
|
|
|PENDING
| ||SP
| ||SP
|
|
|
|
|-
|-
|     Primary Cutaneous Gamma Delta T-cell Lymphoma||Disease||Peining Li, PhD
|     Primary Cutaneous Gamma Delta T-cell Lymphoma||Disease||
|
|
|
|
|
|PENDING
| ||SP
| ||SP
|
|
|
|
|-
|-
|     Primary Cutaneous CD8+ Aggressive Epidermotropic Cytotoxic T-cell Lymphoma||Disease||Peining Li, PhD
|     Primary Cutaneous CD8+ Aggressive Epidermotropic Cytotoxic T-cell Lymphoma||Disease||
|
|
|
|
|
|PENDING
| ||SP
| ||SP
|
|
|
|
|-
|-
|     Primary Cutaneous Acral CD8+ T-cell Lymphoma||Disease||Peining Li, PhD
|     Primary Cutaneous Acral CD8+ T-cell Lymphoma||Disease||
|
|
|
|
|
|PENDING
| ||SP
| ||SP
|
|
|
|
|-
|-
|     Primary Cutaneous CD4+ Small/Medium T-cell Lymphoproliferative Disorder||Disease||Peining Li, PhD
|     Primary Cutaneous CD4+ Small/Medium T-cell Lymphoproliferative Disorder||Disease||
|
|
|
|
|
|PENDING
| ||SP
| ||SP
|
|
Line 1,786: Line 1,774:
|
|
|-
|-
|Anaplastic Large Cell Lymphoma, ALK-Positive||Disease||Sumire Kitahara / Miguel Gonzalez (trainee)
|Anaplastic Large Cell Lymphoma, ALK-Positive||Disease||Sumire Kitahara
|
|
|
|PENDING
|
|
|Completed
|09/23/2022
|SP
|SP
|
|
|
|
|-
|-
|Anaplastic Large Cell Lymphoma, ALK-Negative||Disease||Sumire Kitahara / Miguel Gonzalez (trainee)
|Anaplastic Large Cell Lymphoma, ALK-Negative||Disease||Sumire Kitahara
|
|
|
|
|Completed
|PENDING
|09/23/2022
|
|SP
|SP
|
|
Line 1,829: Line 1,817:
|
|
|-
|-
|Nodular Lymphocyte Predominant Hodgkin Lymphoma||Disease||Thomas Harrington (resident) + Daynna Wolff
|Nodular Lymphocyte Predominant Hodgkin Lymphoma||Disease||
|06/22/2022
|
|09/22/2022
|
|PENDING
|
| ||GC
| ||GC
|
|
|2021 template added, Daynna organising
|
|-
|-
|'''''Classic Hodgkin Lymphoma'''''||'''''Overview'''''||
|'''''Classic Hodgkin Lymphoma'''''||'''''Overview'''''||
Line 1,845: Line 1,833:
|
|
|-
|-
|    Nodular Sclerosis  Classic Hodgkin Lymphoma||Disease||Xiaolin (Lynn) Hu
|    Nodular Sclerosis  Classic Hodgkin Lymphoma||Disease||
|
|
|
|
|Completed
|03/21/22||GC
|03/21/22
|Edits sent 14022022
|-
|    Lymphocyte-Rich Classic Hodgkin Lymphoma||Disease||Patricia V. Hernandez, M.D. (trainee)+Holli Drendel
|
|
| ||GC
|
|
|PENDING
| ||GC
|
|
|2021 template added
|-
|-
|    Mixed Cellularity Classic Hodgkin Lymphoma||Disease||Patricia V. Hernandez, M.D. (trainee)+Holli Drendel
|    Lymphocyte-Rich  Classic Hodgkin Lymphoma||Disease||
|
|
|
|
|
|PENDING
| ||GC
| ||GC
|
|
|2021 template added
|
|-
|-
|    Lymphocyte-Depleted Classic Hodgkin Lymphoma||Disease||Patricia V. Hernandez, M.D. (trainee)+Holli Drendel
|    Mixed Cellularity Classic Hodgkin Lymphoma||Disease||
|
|
|
|
|
|PENDING
| ||GC
| ||GC
|
|
|2021 template added
|
|-
|-
|'''''Immunodeficiency-Associated Lymphoproliferative Disorders'''''||'''''Overview'''''||
|    Lymphocyte-Depleted  Classic Hodgkin Lymphoma||Disease||
|
|
|
|
Line 1,885: Line 1,865:
|
|
|-
|-
|Lymphomas Associated with HIV Infection||Disease||Patricia V. Hernandez, M.D. (trainee)+Holli Drendel
|'''''Immunodeficiency-Associated Lymphoproliferative Disorders'''''||'''''Overview'''''||
|11/2/21
|
|02/02/22
|
|Completed
|
|03/21/22
| ||GC
|GC
|
|03/21/22
|
|2021 template added
|-
|Lymphomas Associated with HIV Infection||Disease||
|
|
|
| ||GC
|
|
|-
|-
|'''''Post-Transplant Lymphoproliferative Disorders'''''||'''''Overview'''''||
|'''''Post-Transplant Lymphoproliferative Disorders'''''||'''''Overview'''''||
Line 1,910: Line 1,897:
|
|
|-
|-
|    Polymorphic  Post-Transplant Lymphoproliferative Disorders||Disease||Ania Shestakova (trainee) + Fabiola Quintero-Rivera
|    Polymorphic  Post-Transplant Lymphoproliferative Disorders||Disease||Anna Shestakova (trainee)''+,''
 
Fabiola Quintero-Rivera
|
|
|
|PENDING
|
|
|completed
|april 2022
|GC
|GC
|26/4/2022
|
|
|
|-
|-
Line 1,967: Line 1,956:
|
|
|-
|-
|Histiocytic Sarcoma||Disease||Marie-France Gagnon, MD, Mayo Clinic (LGG fellow trainee), Xinjie Xu, PhD FACMG, Mayo Clinic
|Histiocytic Sarcoma||Disease||
|
|
|
| ||GC
|
|
|
|
|Complete
|10/01/2021
|GC
|10/01/2021
|Xinjie Xu
|-
|-
|'''''Tumors Derived From Langerhans Cells'''''||'''''Overview'''''||
|'''''Tumors Derived From Langerhans Cells'''''||'''''Overview'''''||
Line 1,984: Line 1,972:
|
|
|-
|-
|   Langerhans Cell  Histiocytosis||Disease||Malaika Perchard, Greg Corboy
|   Langerhans Cell  Histiocytosis||Disease||
|02/01/2022
|05/01/2022
|Complete
|04/28/2022||GC
|5/19/2022
|
|-
|   Langerhans Cell  Sarcoma||Disease||Malaika Perchard, Greg Corboy
|02/01/2022
|05/01/2022
|Complete
|04/28/2022||GC
|5/19/2022
|
|-
|Indeterminate Dendritic Cell Tumour||Disease||
|
|
|
|
Line 2,008: Line 1,980:
|
|
|-
|-
|Interdigitating Dendritic Cell Sarcoma||Disease||
|   Langerhans Cell Sarcoma||Disease||
|
|
|
|
Line 2,016: Line 1,988:
|
|
|-
|-
|Follicular Dendritic Cell Sarcoma||Disease||
|Indeterminate Dendritic Cell Tumour||Disease||
|
|
|
| ||GC
|
|
|-
|Interdigitating Dendritic Cell Sarcoma||Disease||
|
|
|
| ||GC
|
|
|-
|Follicular Dendritic Cell Sarcoma||Disease||
|
|
|
|
Line 2,048: Line 2,036:
|
|
|-
|-
|Erdheim-Chester Disease||Disease||Prashant Deshpande
|Erdheim-Chester Disease||Disease||
|02/02/2022
|
|05/02/2022
|
|PENDING
|
| ||GC
| ||GC
|
|
|emailed 28/3/2022 to get update
|
|-
|-
| || ||
| || ||
Line 2,215: Line 2,203:
|
|
|
|
|}<br />
|}
 
{| class="wikitable sortable"
==WHO Central Nervous System Tumours  (5th ed.) Content==
|+Gene-Specific Pages
| class="wikitable"
!'''Gene'''
|-
!'''Author'''
!'''Disease'''!!'''Page Type'''!!'''Author'''
!'''Date Assigned to Author'''
!'''Date Assigned to Author'''
!'''Target Completion Date'''
!'''Target Completion Date'''
!'''Author Content (Pending or Complete)'''
!'''Author Content (Pending or Complete)'''
!'''Date Completed by Author'''!!'''Associate Editor'''
!'''Date Completed by Author'''
!'''Associate Editor'''
!'''Date of Last Editor Review'''
!'''Date of Last Editor Review'''
!'''Notes'''
!'''Notes'''
|-|Astrocytoma, IDH-mutant||Disease||
|-
|BCR
|Brian Davis
|
|
|
|
|Complete
|8/10/18
|
|
|
|
|
|-
|ABL1
|Brian Davis
|
|
|
|
|Complete
|4/16/19
|
|
|-
|Oligodendroglioma, IDH-mutant and 1p/19q-codeleted||Disease||
|
|
|
|
|-
|RUNX1
|Brian Davis
|
|
|
|
|Complete
|6/9/19
|
|
|
|
|
|
|-
|-
|Glioblastoma, IDH-wildtype||Disease||
|RUNX1T1
|Brian Davis
|
|
|
|
|Complete
|5/23/19
|
|
|
|
|
|
|-
|MYH11
|Brian Davis
|
|
|
|
|-
|Complete
|Diffuse astrocytoma, MYB- or MYBL1-altered||Disease||
|8/6/18
|
|
|
|
|
|
|
|
|
|
|-
|-
|Angiocentric glioma||Disease||
|FLT3
|
|Kay Weng Choy
|
|
|
|
|Complete
|
|
|
|
Line 2,272: Line 2,276:
|
|
|-
|-
|Polymorphous low-grade neuroepithelial tumour of the young||Disease||
|NPM1
|
|Kay Weng Choy
|
|
|
|
|Complete
|
|
|
|
Line 2,281: Line 2,286:
|
|
|-
|-
|Diffuse low-grade glioma, MAPK pathway-altered ||Disease||
|TP53
|
|Kay Weng Choy
|
|
|
|
|Complete
|
|
|
|
Line 2,290: Line 2,296:
|
|
|-
|-
|Diffuse midline glioma, H3 K27-altered||Disease||
|DNMT3A
|
|Kay Weng Choy
|
|
|
|
|Complete
|
|
|
|
Line 2,299: Line 2,306:
|
|
|-
|-
|Diffuse hemispheric glioma, H3 G34-mutant||Disease||
|CEBPA
|
|Gordana
|
|
|
|
|Complete
|
|
|
|
Line 2,308: Line 2,316:
|
|
|-
|-
|Diffuse paediatric-type high-grade glioma, H3-wildtype and IDH-wildtype||Disease||
|IDH1
|
|Paul De Fazio
|
|
|
|
|Complete
|
|
|
|
Line 2,317: Line 2,326:
|
|
|-
|-
|Infant-type hemispheric glioma||Disease||
|IDH2
|
|Paul De Fazio
|
|
|
|
|Complete
|
|
|
|
Line 2,326: Line 2,336:
|
|
|-
|-
|Pilocytic astrocytoma ||Disease||
|PML
|
|Brian Davis
|
|
|
|
|
|Complete
|12/5/18
|
|
|
|
|
|
|-
|-
|High-grade astrocytoma with piloid features||Disease||
|RARA
|
|Brian Davis
|
|
|
|
|
|Complete
|8/3/18
|
|
|
|
|
|
|-
|-
|Pleomorphic xanthoastrocytoma||Disease||
|ETV6
|
|Brian Davis
|
|
|
|
|
|Complete
|6/9/19
|
|
|
|
|
|
|-
|-
|Subependymal giant cell astrocytoma||Disease||
|KIT
|
|Brian Davis
|
|
|
|
|
|Complete
|10/1/18
|
|
|
|
|
|
|-
|-
|Chordoid glioma||Disease||
|CBFB
|
|Brian Davis
|
|
|
|
|
|Complete
|8/2/18
|
|
|
|
|
|
|-
|-
|Astroblastoma, MN1-altered||Disease||
|GATA2
|
|Kay Weng Choy
|
|
|
|
|
|
|-
|Ganglioglioma||Disease||
|
|
|
|
|
|
|
|-
|Gangliocytoma||Disease||
|
|
|
|
|
|
|
|-
|Desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma||Disease||
|
|
|
|
|
|
|
|-
|Dysembryoplastic neuroepithelial tumour||Disease||
|
|
|
|
|
|
|
|-
|Diffuse glioneuronal tumour with oligodendroglioma-like features and nuclear clusters||Disease||
|
|
|
|
|
|
|
|-
|Papillary glioneuronal tumour||Disease||
|
|
|
|
|
|
|
|-
|Rosette-forming glioneuronal tumour||Disease||
|
|
|
|
|
|
|
|-
|Myxoid glioneuronal tumour||Disease||
|
|
|
|
|
|
|
|-
|Diffuse leptomeningeal glioneuronal tumour||Disease||
|
|
|
|
|
|
|
|-
|Multinodular and vacuolating neuronal tumour||Disease||
|
|
|
|
|
|
|
|-
|Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease)||Disease||
|
|
|
|
|
|
|
|-
|Central neurocytoma||Disease||
|
|
|
|
|
|
|
|-
|Extraventricular neurocytoma||Disease||
|
|
|
|
|
|
|
|-
|Cerebellar liponeurocytoma||Disease||
|
|
|
|
|
|
|
|-
|Supratentorial ependymoma||Disease||
|
|
|
|
|
|
|
|-
|Supratentorial ependymoma, ZFTA fusion-positive ||Disease||
|
|
|
|
|
|
|
|-
|Supratentorial ependymoma, YAP1 fusion-positive||Disease||
|
|
|
|
|
|
|
|-
|Posterior fossa ependymoma||Disease||
|
|
|
|
|
|
|
|-
|Posterior fossa group A (PFA) ependymoma||Disease||
|
|
|
|
|
|
|
|-
|Posterior fossa group B (PFB) ependymoma||Disease||
|
|
|
|
|
|
|
|-
|Spinal ependymoma||Disease||
|
|
|
|
|
|
|
|-
|Spinal ependymoma, MYCN-amplified||Disease||
|
|
|
|
|
|
|
|-
|Myxopapillary ependymoma||Disease||
|
|
|
|
|
|
|
|-
|Subependymoma||Disease||
|
|
|
|
|
|
|
|-
|Choroid plexus papilloma||Disease||
|
|
|
|
|
|
|
|-
|Atypical choroid plexus papilloma||Disease||
|
|
|
|
|
|
|
|-
|Choroid plexus carcinoma||Disease||
|
|
|
|
|
|
|
|-
|Medulloblastoma, WNT-activated||Disease||
|
|
|
|
|
|
|
|-
|Medulloblastoma, SHH-activated and TP53-wildtype||Disease||
|
|
|
|
|
|
|
|-
|Medulloblastoma, SHH-activated and TP53-mutant||Disease||
|
|
|
|
|
|
|
|-
|Medulloblastoma, non-WNT/non-SHH||Disease||
|
|
|
|
|
|Complete
|
|
|
|
Line 2,659: Line 2,396:
|
|
|-
|-
|Medulloblastoma, histologically defined||Disease||
|PTEN
|
|Beth Pitel
|
|
|
|
|Pending
|
|
|
|
Line 2,668: Line 2,406:
|
|
|-
|-
|Atypical teratoid/rhabdoid tumour||Disease||
|MLTT3
|
|
|
|
|
|
|
|
|-
|Cribriform neuroepithelial tumour||Disease||
|
|
|
|
Line 2,686: Line 2,416:
|
|
|-
|-
|Embryonal tumour with multilayered rosettes||Disease||
|MECOM
|
|Brian Davis
|
|
|
|
|Pending
|
|
|
|
Line 2,695: Line 2,426:
|
|
|-
|-
|CNS neuroblastoma, FOXR2-activated||Disease||
|FGFR1(FLT2)
|
|Brian Davis
|
|
|
|
|Pending
|
|
|
|
Line 2,704: Line 2,436:
|
|
|-
|-
|CNS tumour with BCOR internal tandem duplication||Disease||
|KMT2A
|
|
|
|
|
|
|
|
|-
|CNS embryonal tumour NEC/NOS||Disease||
|
|
|
|
Line 2,722: Line 2,446:
|
|
|-
|-
|Pineocytoma||Disease||
|DEK
|
|Wahab A. Khan
|
|
|
|
|Pending
|
|
|
|
Line 2,731: Line 2,456:
|
|
|-
|-
|Pineal parenchymal tumour of intermediate differentiation||Disease||
|NUP214
|
|Wahab A. Khan
|
|
|
|
|Pending
|
|
|
|
Line 2,740: Line 2,466:
|
|
|-
|-
|Pineoblastoma||Disease||
|RBM15
|
|
|
|
|
|
|
|-
|Papillary tumour of the pineal region||Disease||
|
|
|
|
|
|
|
|
|-
|Desmoplastic myxoid tumour of the pineal region, SMARCB1-mutant||Disease||
|
|
|
|
Line 2,767: Line 2,476:
|
|
|-
|-
|Schwannoma||Disease||
|MKL1
|
|
|
|
|
|
|
|
|-
|Neurofibroma||Disease||
|
|
|
|
Line 2,785: Line 2,486:
|
|
|-
|-
|Perineurioma||Disease||
|DDX41
|
|Ying Zou
|
|8/7/20
|
|
|Pending
|
|
|
|
Line 2,794: Line 2,496:
|
|
|-
|-
|Hybrid nerve sheath tumours||Disease||
|ANKRD26
|
|
|
|
|
|
|
|
|-
|Malignant melanotic nerve sheath tumour||Disease||
|
|
|
|
Line 2,812: Line 2,506:
|
|
|-
|-
|Malignant peripheral nerve sheath tumour||Disease||
|CUX1
|
|
|
|
|
|
|
|
|-
|Cauda equina neuroendocrine tumour (previously paraganglioma)||Disease||
|
|
|
|
Line 2,830: Line 2,516:
|
|
|-
|-
|Meningioma||Disease||
|TET2
|
|
|
|
|
|
|
|
|-
|Solitary fibrous tumour||Disease||
|
|
|
|
Line 2,848: Line 2,526:
|
|
|-
|-
|Haemangiomas and vascular malformations||Disease||
|EZH2
|
|
|
|
|
|
|
|
|-
|Haemangioblastoma||Disease||
|
|
|
|
Line 2,866: Line 2,536:
|
|
|-
|-
|Rhabdomyosarcoma||Disease||
|FOXP1
|
|
|
|
|
|
|
|
|-
|Intracranial mesenchymal tumour, FET::CREB fusion-positive||Disease||
|
|
|
|
Line 2,884: Line 2,546:
|
|
|-
|-
|CIC-rearranged sarcoma||Disease||
|MYC
|
|
|
|
|
|
|
|
|-
|Primary intracranial sarcoma, DICER1-mutant||Disease||
|
|
|
|
Line 2,902: Line 2,556:
|
|
|-
|-
|Ewing sarcoma||Disease||
|JAK2
|
|
|
|
|
|
|
|
|-
|Mesenchymal chondrosarcoma||Disease||
|
|
|
|
Line 2,920: Line 2,566:
|
|
|-
|-
|Chondrosarcoma||Disease||
|WT1
|
|DONE
|
|
|
|
|DONE
|
|
|
|
Line 2,929: Line 2,576:
|
|
|-
|-
|Chordoma||Disease||
|CBL
|
|
|
|
|
|
|
|
|-
|Diffuse meningeal melanocytic neoplasms: Melanocytosis and melanomatosis||Disease||
|
|
|
|
Line 2,947: Line 2,586:
|
|
|-
|-
|Circumscribed meningeal melanocytic neoplasms: Melanocytoma and melanoma||Disease||
|NF1
|
|
|
|
|
|
|
|
|-
|Primary diffuse large B-cell lymphoma of the CNS||Disease||
|
|
|
|
Line 2,965: Line 2,596:
|
|
|-
|-
|Immunodeficiency-associated CNS lymphomas||Disease||
|SUZ12
|
|
|
|
|
|
|
|
|-
|Lymphomatoid granulomatosis||Disease||
|
|
|
|
Line 2,983: Line 2,606:
|
|
|-
|-
|Intravascular large B-cell lymphoma||Disease||
|ERG
|
|
|
|
|
|
|
|
|-
|MALT lymphoma of the dura||Disease||
|
|
|
|
Line 3,001: Line 2,616:
|
|
|-
|-
|Other low-grade B-cell lymphomas of the CNS||Disease||
|EST2
|
|
|
|
|
|
|
|
|-
|Anaplastic large cell lymphoma (ALK+/ALK−)||Disease||
|
|
|
|
Line 3,019: Line 2,626:
|
|
|-
|-
|T-cell and NK/T-cell lymphomas||Disease||
|RPS14
|
|
|
|
|
|
|
|
|-
|Erdheim-Chester disease||Disease||
|
|
|
|
Line 3,037: Line 2,636:
|
|
|-
|-
|Rosai-Dorfman disease||Disease||
|RB1
|
|
|
|
|
|
|
|
|-
|Juvenile xanthogranuloma||Disease||
|
|
|
|
Line 3,055: Line 2,646:
|
|
|-
|-
|Langerhans cell histiocytosis||Disease||
|MPL
|
|
|
|
|
|
|
|
|-
|Histiocytic sarcoma||Disease||
|
|
|
|
Line 3,073: Line 2,656:
|
|
|-
|-
|Germ cell tumours of the CNS||Disease||
|CHGA
|
|
|
|
|
|
|
|
|-
|Adamantinomatous craniopharyngioma||Disease||
|
|
|
|
Line 3,091: Line 2,666:
|
|
|-
|-
|Papillary craniopharyngioma||Disease||
|CDH1
|
|
|
|
|
|
|
|
|-
|Pituicytoma, granular cell tumour of the sellar region, and spindle cell oncocytoma||Disease||
|
|
|
|
Line 3,109: Line 2,676:
|
|
|-
|-
|Pituitary adenoma / pituitary neuroendocrine tumour||Disease||
|SRSF2
|
|
|
|
|
|
|
|
|-
|Pituitary blastoma||Disease||
|
|
|
|
Line 3,127: Line 2,686:
|
|
|-
|-
|Metastases to the brain and spinal cord parenchyma||Disease||
|DNMT1
|
|
|
|
|
|
|
|
|-
|Metastases to the meninges||Disease||
|
|
|
|
Line 3,145: Line 2,696:
|
|
|-
|-
|Neurofibromatosis type 1||Disease||
|PRDX2
|
|
|
|
|
|
|
|
|-
|Neurofibromatosis type 2||Disease||
|
|
|
|
Line 3,163: Line 2,706:
|
|
|-
|-
|Schwannomatosis||Disease||
|ASXL1
|
|DONE
|
|
|
|
|DONE
|
|
|
|
Line 3,172: Line 2,716:
|
|
|-
|-
|Von Hippel-Lindau syndrome||Disease||
|MN1
|
|
|
|
|
|
|
|
|-
|Tuberous sclerosis||Disease||
|
|
|
|
Line 3,190: Line 2,726:
|
|
|-
|-
|Li-Fraumeni syndrome||Disease||
|SF3A1
|
|
|
|
|
|
|
|
|-
|Cowden syndrome||Disease||
|
|
|
|
Line 3,208: Line 2,736:
|
|
|-
|-
|Constitutional mismatch repair deficiency syndrome||Disease||
|EP300
|
|
|
|
|
|
|
|
|-
|Familial adenomatous polyposis 1||Disease||
|
|
|
|
Line 3,226: Line 2,746:
|
|
|-
|-
|Naevoid basal cell carcinoma syndrome||Disease||
|JARID2
|
|
|
|
|
|
|
|
|-
|Rhabdoid tumour predisposition syndrome||Disease||
|
|
|
|
Line 3,244: Line 2,756:
|
|
|-
|-
|Carney complex||Disease||
|BRCA1
|
|
|
|
|
|
|
|
|-
|DICER1 syndrome||Disease||
|
|
|
|
Line 3,262: Line 2,766:
|
|
|-
|-
|Familial paraganglioma syndromes||Disease||
|BRCA2
|
|
|
|
|
|
|
|
|-
|Melanoma-astrocytoma syndrome||Disease||
|
|
|
|
Line 3,280: Line 2,776:
|
|
|-
|-
|Familial retinoblastoma||Disease||
|
|
|
|
|
|
|
|
|
|-
|BAP1 tumour predisposition syndrome||Disease||
|
|
|
|
Line 3,298: Line 2,786:
|
|
|-
|-
|Fanconi anaemia||Disease||
|
|
|
|
|
|
|
|
|
|-
|ELP1-medulloblastoma syndrome||Disease||
|
|
|
|
Line 3,315: Line 2,795:
|
|
|
|
|-
|}
}