Update on cancer predisposition syndromes and surveillance guidelines for childhood brain tumors
Clin Cancer Res. 2024 Apr 4. doi: 10.1158/1078-0432.CCR-23-4033. Online ahead of print.ABSTRACTTumors of the central nervous system (CNS) comprise the second most common group of neoplasms in childhood. The incidence of germline predisposition among children with brain tumors continues to grow as our knowledge on disease aetiology increases. Some children with brain tumors may present with non-malignant phenotypic features of specific syndromes (e.g. nevoid basal cell carcinoma syndrome, neurofibromatosis type 1 and type 2, DICER1 syndrome, and constitutional mismatch repair deficiency), while others may present with a str...
Source: Cell Research - April 4, 2024 Category: Cytology Authors: Jordan R Hansford Anirban Das Rose B McGee Yoshiko Nakano Jack Brzezinski Sarah R Scollon Surya P Rednam Jaclyn Schienda Orli Michaeli Sun Young Kim Mary-Louise C Greer Rosanna Weksberg Douglas R Stewart William D Foulkes Uri Tabori Kristian W Pajtler Ste Source Type: research
Update on cancer predisposition syndromes and surveillance guidelines for childhood brain tumors
Clin Cancer Res. 2024 Apr 4. doi: 10.1158/1078-0432.CCR-23-4033. Online ahead of print.ABSTRACTTumors of the central nervous system (CNS) comprise the second most common group of neoplasms in childhood. The incidence of germline predisposition among children with brain tumors continues to grow as our knowledge on disease aetiology increases. Some children with brain tumors may present with non-malignant phenotypic features of specific syndromes (e.g. nevoid basal cell carcinoma syndrome, neurofibromatosis type 1 and type 2, DICER1 syndrome, and constitutional mismatch repair deficiency), while others may present with a str...
Source: Clinical Cancer Research - April 4, 2024 Category: Cancer & Oncology Authors: Jordan R Hansford Anirban Das Rose B McGee Yoshiko Nakano Jack Brzezinski Sarah R Scollon Surya P Rednam Jaclyn Schienda Orli Michaeli Sun Young Kim Mary-Louise C Greer Rosanna Weksberg Douglas R Stewart William D Foulkes Uri Tabori Kristian W Pajtler Ste Source Type: research
Update on cancer predisposition syndromes and surveillance guidelines for childhood brain tumors
Clin Cancer Res. 2024 Apr 4. doi: 10.1158/1078-0432.CCR-23-4033. Online ahead of print.ABSTRACTTumors of the central nervous system (CNS) comprise the second most common group of neoplasms in childhood. The incidence of germline predisposition among children with brain tumors continues to grow as our knowledge on disease aetiology increases. Some children with brain tumors may present with non-malignant phenotypic features of specific syndromes (e.g. nevoid basal cell carcinoma syndrome, neurofibromatosis type 1 and type 2, DICER1 syndrome, and constitutional mismatch repair deficiency), while others may present with a str...
Source: Clinical Cancer Research - April 4, 2024 Category: Cancer & Oncology Authors: Jordan R Hansford Anirban Das Rose B McGee Yoshiko Nakano Jack Brzezinski Sarah R Scollon Surya P Rednam Jaclyn Schienda Orli Michaeli Sun Young Kim Mary-Louise C Greer Rosanna Weksberg Douglas R Stewart William D Foulkes Uri Tabori Kristian W Pajtler Ste Source Type: research
Novel PTCH1 Mutation Causes Gorlin-Goltz Syndrome
CONCLUSION: This study expands the mutation spectrum of PTCH1 in GS and facilitates the early diagnosis and screening of GS. PTCH1 [c.3512_3526del (p.1171_1176del)] may cause structural abnormalities and functional disabilities, leading to GS in families.PMID:38546523 | DOI:10.3290/j.cjdr.b5128601 (Source: Cell Research)
Source: Cell Research - March 28, 2024 Category: Cytology Authors: Hai Tang Yue Hai Yan Cao Miao He Source Type: research
Recurrent COF in a NBCCS patient: Case report and in vitro analysis
This report describes primary and recurrent COF in the mandible of a Nevoid Basal Cell Carcinoma Syndrome (NBCCS) patient. (Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics)
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - March 5, 2024 Category: ENT & OMF Authors: Dinesh K. Yadav, Caris M. Smith, Andrew B. Zhang, Patricia DeVilliers, Stephen L. Greene, Patrick J. Louis, Mary MacDougall, Hope M. Amm Source Type: research
Recurrent central odontogenic fibroma in a patient with nevoid basal cell carcinoma syndrome: case report and in vitro analysis
This report describes primary and recurrent COF in the mandible of a patient with nevoid basal cell carcinoma syndrome (NBCCS). (Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics)
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - March 5, 2024 Category: ENT & OMF Authors: Dinesh K. Yadav, Caris M. Smith, Andrew B. Zhang, Patricia DeVilliers, Stephen L. Greene, Patrick J. Louis, Mary MacDougall, Hope M. Amm Source Type: research
Infectious disease agents and their potential threat to transfusion safety (an update to the 2009 Transfusion supplement)
Transfusion. 2024 Feb;64 Suppl 1:S1-S3. doi: 10.1111/trf.17626.NO ABSTRACTPMID:38394041 | DOI:10.1111/trf.17626 (Source: Transfusion)
Source: Transfusion - February 23, 2024 Category: Hematology Authors: L M Katz Roger Y Dodd Paula Saa J B Gorlin K Palmer F B Hollinger S L Stramer Source Type: research
Infectious disease agents and their potential threat to transfusion safety (an update to the 2009 Transfusion supplement)
Transfusion. 2024 Feb;64 Suppl 1:S1-S3. doi: 10.1111/trf.17626.NO ABSTRACTPMID:38394041 | DOI:10.1111/trf.17626 (Source: Transfusion)
Source: Transfusion - February 23, 2024 Category: Hematology Authors: L M Katz Roger Y Dodd Paula Saa J B Gorlin K Palmer F B Hollinger S L Stramer Source Type: research
Applying Multiomics to Basosquamous Carcinoma
Basosquamous carcinoma (BSC) is a rare form of skin cancer defined by combined phenotypes of 2 common skin cancers: basal cell carcinoma (BCC) and cutaneous squamous cell carcinoma (cSCC). The heterogeneity of BSC provides tumors an intrinsic resistance to drugs that only target 1 phenotype, making standard therapy ineffective (Zelin et al, 2022). Jussila et al (20231) utilize single-cell transcriptomics, spatial transcriptomics, and whole-exome sequencing to interrogate and spatially map phenotypic differences in a drug-resistant tumor from a patient with Gorlin syndrome. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - February 21, 2024 Category: Dermatology Authors: Gavin R. Long, Arinnae I. Kurdian, Scott X. Atwood Tags: Commentary Source Type: research
Defining the progeria phenome
In conclusion, our study has provided tools to evaluate the likelihood of a syndrome or patient being progeroid. This is a considerable step forward in our understanding of what constitutes a premature aging disorder and how to diagnose them.PMID:38345566 | DOI:10.18632/aging.205537 (Source: Aging)
Source: Aging - February 12, 2024 Category: Biomedical Science Authors: Cecilie Worm Maya Elena Ramirez Schambye Garik V Mkrtchyan Alexander Veviorskiy Anastasia Shneyderman Ivan V Ozerov Alex Zhavoronkov Daniela Bakula Morten Scheibye-Knudsen Source Type: research
Results of clinical effectiveness of conventional versus Mirasol-treated Apheresis Platelets in Patients with Hypoproliferative Thrombocytopenia (MiPLATE) trial
This study did not support that MIRASOL was non-inferior compared to conventional platelets using the novel endpoint number of days with ≥Grade 2 bleeding in MIRASOL when compared to CONTROL.PMID:38314476 | DOI:10.1111/trf.17720 (Source: Transfusion)
Source: Transfusion - February 5, 2024 Category: Hematology Authors: Scott A Koepsell Moritz Stolla Rebecca L Sedjo Jeffrey Carson Michael Knudson Richard Cook Ross Fasano Samantha G Ngamsuntikul Claudia Cohn Jed Gorlin Meghan Delaney Sherrill Slichter Paul Ness Jeffrey McCullough Source Type: research
Agency via speech: A Lacanian perspective on the process toward agency in psychoanalytic therapy.
We examined if Gorlin and Békés’s (2021) “agency via awareness” framework—hypothesizing that agency is a key goal across therapeutic orientations and can be stimulated via increased awareness—aligns with Lacanian psychoanalysis1 and how so. We agree with Gorlin and Békés (2021) that stimulating agency is a key goal in psychoanalytic psychotherapy, though we advocate for another approach of agency—one that neither belongs to a self-conscious, intentional agent nor is considered an illusion of the ego. Building on Lacan’s (1969–1970/2007) Seminar XVII, and more specifically his concepts of “knowledge,...
Source: Psychoanalytic Psychology - February 1, 2024 Category: Psychiatry & Psychology Source Type: research
Genetics of Cardiac Tumours: A Narrative Review
Cardiac tumours can occur in association with genetic syndromes. Rhabdomyomas have been reported in association with tuberous sclerosis, myxomas with Carney's complex, cardiac fibromas with Gorlin syndrome, and paragangliomas with multiple endocrine neoplasm syndrome. The presentation and prognosis of cardiac tumours associated with genetic syndromes differ compared with sporadic cases. Knowledge about the associated syndromes' genetic features and extracardiac manifestations is essential for the diagnosis, prognosis, and management of cardiac neoplasms. (Source: Heart, Lung and Circulation)
Source: Heart, Lung and Circulation - December 30, 2023 Category: Cardiology Authors: Maha M. AlRasheed Tags: Review Source Type: research
Acquisition of drug resistance in basal cell nevus syndrome tumors through basal to squamous cell carcinoma transition
While basal cell carcinomas (BCCs) arise from ectopic hedgehog pathway activation and can be treated with pathway inhibitors, sporadic BCCs display high resistance rates while tumors arising in Gorlin syndrome patients with germline Patched (PTCH1) mutations are uniformly suppressed by inhibitor therapy. In rare cases, Gorlin syndrome patients on long-term inhibitor therapy will develop individual resistant tumor clones that rapidly progress, but the basis of this resistance remains unstudied. Here we report a case of an SMOi-resistant tumor arising in a Gorlin patient on suppressive SMOi for nearly a decade. (Source: Jour...
Source: Journal of Investigative Dermatology - December 27, 2023 Category: Dermatology Authors: Anna R. Jussila, Daniel Haensel, Sadhana Gaddam, Anthony E. Oro Tags: Original Article Source Type: research
Hedgehog Inhibitors Beyond Clinical Complete Response in Basal Cell Carcinoma: Should I Stop or Should I Go?
CONCLUSIONS: Our retrospective results suggest that HHIs should be continued after cCR to improve DFS in BCC.PMID:38127280 | DOI:10.1093/oncolo/oyad319 (Source: The Oncologist)
Source: The Oncologist - December 21, 2023 Category: Cancer & Oncology Authors: Salvatore Alfieri Rebecca Roman ò Sara Marceglia Vincenzo De Giorgi Ketty Peris Pietro Sollena Alfredo Piccerillo Ruggero Moro Giulio Gualdi Paolo Antonio Ascierto Marco Palla Miriam Paone Laura Eibenschutz Francesco Spagnolo Paola Queirolo Daria Maria F Source Type: research
