Loading…

Successful Radiotherapy for Metastatic Basal Cell Carcinoma to the Parotid Gland in a Patient With Gorlin-Goltz Syndrome

Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant condition characterized by a predisposition to multiple basal cell carcinomas (BCCs) and other neoplasms and is commonly associated with pathogenic variants in the PTCH1 or SUFU tumor su...

Full description

Saved in:
Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2024-08, Vol.16 (8), p.e67152
Main Authors: Neaga, Stefan, Beiu, Cristina, Popa, Liliana G, Orlov Slavu, Cristina M, Anghel, Andrei W
Format: Article
Language:English
Subjects:
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by
cites
container_end_page
container_issue 8
container_start_page e67152
container_title Curēus (Palo Alto, CA)
container_volume 16
creator Neaga, Stefan
Beiu, Cristina
Popa, Liliana G
Orlov Slavu, Cristina M
Anghel, Andrei W
description Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant condition characterized by a predisposition to multiple basal cell carcinomas (BCCs) and other neoplasms and is commonly associated with pathogenic variants in the PTCH1 or SUFU tumor suppressor genes. However, the absence of these genetic markers does not preclude the diagnosis due to the variable genetic expression of the syndrome. Diagnosis relies on a set of established major and minor criteria, particularly when genetic testing fails to identify the typical pathogenic variants. The primary clinical manifestation of GGS is the development of multiple BCCs. While these typically exhibit slow growth and remain localized, they can manifest more aggressive behavior in individuals with GGS, including local invasiveness and metastatic potential. Moreover, patients with GGS display heightened sensitivity to ionizing radiation, leading to general contraindications for radiation therapy (RT) due to the risk of inducing additional BCCs. Despite these concerns, we report a case where RT was the only feasible treatment for an inoperable BCC that had metastasized to the parotid gland in a GGS patient. The successful use of RT, which resulted in a cure without adverse effects, illustrates that RT may be a viable option for some GGS patients, reflecting individual variability in radiation sensitivity. This case underscores the importance of personalized treatment plans in managing the complex presentations of GGS, challenging the traditional constraints regarding the use of RT in these patients and suggesting the potential for its reconsideration under specific circumstances.
doi_str_mv 10.7759/cureus.67152
format article
fullrecord <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11408743</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>3111420409</sourcerecordid><originalsourceid>FETCH-LOGICAL-p263t-30ada702966fccdb82a169a0f740c8776d47a1c1efa60b0136b61429e6949dd53</originalsourceid><addsrcrecordid>eNpdkcFrFTEQxoNY2tL25lkCXrxsnSS7yeYk-qhPoUVpKx6XeUnWl7KbPJNs8fnXG2iV6mVmmPnx8c0MIS8YnCvV6TdmSW7J51Kxjj8jx5zJvulZ3z5_Uh-Rs5zvAICB4qDgkBwJzXWnQB6TnzeLMS7ncZnoNVofy9Yl3O3pGBO9cgVzweINfY8ZJ7pyUw2YjA9xRloirTj9gikWb-l6wmCpDxRrq3gXCv3my5auY5p8aNZxKr_ozT7YFGd3Sg5GnLI7e8wn5OuHi9vVx-by8_rT6t1ls-NSlEYAWlTAtZSjMXbTc2RSI4yqBdMrJW2rkBnmRpSwASbkRrKWayd1q63txAl5-6C7Wzazs6a6SjgNu-RnTPshoh_-nQS_Hb7H-4GxFnrViqrw-lEhxR-Ly2WYfTb1EhhcXPIgGEgluk7Jir76D72LSwp1v0pVQQ4t6Eq9fGrpr5c_XxG_AT2TkNI</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>3111420409</pqid></control><display><type>article</type><title>Successful Radiotherapy for Metastatic Basal Cell Carcinoma to the Parotid Gland in a Patient With Gorlin-Goltz Syndrome</title><source>Publicly Available Content Database (Proquest) (PQ_SDU_P3)</source><source>PubMed Central</source><creator>Neaga, Stefan ; Beiu, Cristina ; Popa, Liliana G ; Orlov Slavu, Cristina M ; Anghel, Andrei W</creator><creatorcontrib>Neaga, Stefan ; Beiu, Cristina ; Popa, Liliana G ; Orlov Slavu, Cristina M ; Anghel, Andrei W</creatorcontrib><description>Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant condition characterized by a predisposition to multiple basal cell carcinomas (BCCs) and other neoplasms and is commonly associated with pathogenic variants in the PTCH1 or SUFU tumor suppressor genes. However, the absence of these genetic markers does not preclude the diagnosis due to the variable genetic expression of the syndrome. Diagnosis relies on a set of established major and minor criteria, particularly when genetic testing fails to identify the typical pathogenic variants. The primary clinical manifestation of GGS is the development of multiple BCCs. While these typically exhibit slow growth and remain localized, they can manifest more aggressive behavior in individuals with GGS, including local invasiveness and metastatic potential. Moreover, patients with GGS display heightened sensitivity to ionizing radiation, leading to general contraindications for radiation therapy (RT) due to the risk of inducing additional BCCs. Despite these concerns, we report a case where RT was the only feasible treatment for an inoperable BCC that had metastasized to the parotid gland in a GGS patient. The successful use of RT, which resulted in a cure without adverse effects, illustrates that RT may be a viable option for some GGS patients, reflecting individual variability in radiation sensitivity. This case underscores the importance of personalized treatment plans in managing the complex presentations of GGS, challenging the traditional constraints regarding the use of RT in these patients and suggesting the potential for its reconsideration under specific circumstances.</description><identifier>ISSN: 2168-8184</identifier><identifier>EISSN: 2168-8184</identifier><identifier>DOI: 10.7759/cureus.67152</identifier><identifier>PMID: 39295706</identifier><language>eng</language><publisher>United States: Cureus Inc</publisher><subject>Cancer ; Case reports ; Dermatology ; Exocrine glands ; Genetic testing ; Lymphatic system ; Metastasis ; Oncology ; Plastic surgery ; Radiation Oncology ; Radiation therapy ; Tomography ; Tumors</subject><ispartof>Curēus (Palo Alto, CA), 2024-08, Vol.16 (8), p.e67152</ispartof><rights>Copyright © 2024, Neaga et al.</rights><rights>Copyright © 2024, Neaga et al. This work is published under https://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>Copyright © 2024, Neaga et al. 2024 Neaga et al.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.proquest.com/docview/3111420409/fulltextPDF?pq-origsite=primo$$EPDF$$P50$$Gproquest$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/3111420409?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,25753,27924,27925,37012,37013,44590,53791,53793,75126</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39295706$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Neaga, Stefan</creatorcontrib><creatorcontrib>Beiu, Cristina</creatorcontrib><creatorcontrib>Popa, Liliana G</creatorcontrib><creatorcontrib>Orlov Slavu, Cristina M</creatorcontrib><creatorcontrib>Anghel, Andrei W</creatorcontrib><title>Successful Radiotherapy for Metastatic Basal Cell Carcinoma to the Parotid Gland in a Patient With Gorlin-Goltz Syndrome</title><title>Curēus (Palo Alto, CA)</title><addtitle>Cureus</addtitle><description>Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant condition characterized by a predisposition to multiple basal cell carcinomas (BCCs) and other neoplasms and is commonly associated with pathogenic variants in the PTCH1 or SUFU tumor suppressor genes. However, the absence of these genetic markers does not preclude the diagnosis due to the variable genetic expression of the syndrome. Diagnosis relies on a set of established major and minor criteria, particularly when genetic testing fails to identify the typical pathogenic variants. The primary clinical manifestation of GGS is the development of multiple BCCs. While these typically exhibit slow growth and remain localized, they can manifest more aggressive behavior in individuals with GGS, including local invasiveness and metastatic potential. Moreover, patients with GGS display heightened sensitivity to ionizing radiation, leading to general contraindications for radiation therapy (RT) due to the risk of inducing additional BCCs. Despite these concerns, we report a case where RT was the only feasible treatment for an inoperable BCC that had metastasized to the parotid gland in a GGS patient. The successful use of RT, which resulted in a cure without adverse effects, illustrates that RT may be a viable option for some GGS patients, reflecting individual variability in radiation sensitivity. This case underscores the importance of personalized treatment plans in managing the complex presentations of GGS, challenging the traditional constraints regarding the use of RT in these patients and suggesting the potential for its reconsideration under specific circumstances.</description><subject>Cancer</subject><subject>Case reports</subject><subject>Dermatology</subject><subject>Exocrine glands</subject><subject>Genetic testing</subject><subject>Lymphatic system</subject><subject>Metastasis</subject><subject>Oncology</subject><subject>Plastic surgery</subject><subject>Radiation Oncology</subject><subject>Radiation therapy</subject><subject>Tomography</subject><subject>Tumors</subject><issn>2168-8184</issn><issn>2168-8184</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><recordid>eNpdkcFrFTEQxoNY2tL25lkCXrxsnSS7yeYk-qhPoUVpKx6XeUnWl7KbPJNs8fnXG2iV6mVmmPnx8c0MIS8YnCvV6TdmSW7J51Kxjj8jx5zJvulZ3z5_Uh-Rs5zvAICB4qDgkBwJzXWnQB6TnzeLMS7ncZnoNVofy9Yl3O3pGBO9cgVzweINfY8ZJ7pyUw2YjA9xRloirTj9gikWb-l6wmCpDxRrq3gXCv3my5auY5p8aNZxKr_ozT7YFGd3Sg5GnLI7e8wn5OuHi9vVx-by8_rT6t1ls-NSlEYAWlTAtZSjMXbTc2RSI4yqBdMrJW2rkBnmRpSwASbkRrKWayd1q63txAl5-6C7Wzazs6a6SjgNu-RnTPshoh_-nQS_Hb7H-4GxFnrViqrw-lEhxR-Ly2WYfTb1EhhcXPIgGEgluk7Jir76D72LSwp1v0pVQQ4t6Eq9fGrpr5c_XxG_AT2TkNI</recordid><startdate>20240818</startdate><enddate>20240818</enddate><creator>Neaga, Stefan</creator><creator>Beiu, Cristina</creator><creator>Popa, Liliana G</creator><creator>Orlov Slavu, Cristina M</creator><creator>Anghel, Andrei W</creator><general>Cureus Inc</general><general>Cureus</general><scope>NPM</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20240818</creationdate><title>Successful Radiotherapy for Metastatic Basal Cell Carcinoma to the Parotid Gland in a Patient With Gorlin-Goltz Syndrome</title><author>Neaga, Stefan ; Beiu, Cristina ; Popa, Liliana G ; Orlov Slavu, Cristina M ; Anghel, Andrei W</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p263t-30ada702966fccdb82a169a0f740c8776d47a1c1efa60b0136b61429e6949dd53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Cancer</topic><topic>Case reports</topic><topic>Dermatology</topic><topic>Exocrine glands</topic><topic>Genetic testing</topic><topic>Lymphatic system</topic><topic>Metastasis</topic><topic>Oncology</topic><topic>Plastic surgery</topic><topic>Radiation Oncology</topic><topic>Radiation therapy</topic><topic>Tomography</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Neaga, Stefan</creatorcontrib><creatorcontrib>Beiu, Cristina</creatorcontrib><creatorcontrib>Popa, Liliana G</creatorcontrib><creatorcontrib>Orlov Slavu, Cristina M</creatorcontrib><creatorcontrib>Anghel, Andrei W</creatorcontrib><collection>PubMed</collection><collection>ProQuest Central (Corporate)</collection><collection>Health &amp; Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health &amp; Medical Complete (Alumni)</collection><collection>Health &amp; Medical Collection (Alumni Edition)</collection><collection>Publicly Available Content Database (Proquest) (PQ_SDU_P3)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Curēus (Palo Alto, CA)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Neaga, Stefan</au><au>Beiu, Cristina</au><au>Popa, Liliana G</au><au>Orlov Slavu, Cristina M</au><au>Anghel, Andrei W</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Successful Radiotherapy for Metastatic Basal Cell Carcinoma to the Parotid Gland in a Patient With Gorlin-Goltz Syndrome</atitle><jtitle>Curēus (Palo Alto, CA)</jtitle><addtitle>Cureus</addtitle><date>2024-08-18</date><risdate>2024</risdate><volume>16</volume><issue>8</issue><spage>e67152</spage><pages>e67152-</pages><issn>2168-8184</issn><eissn>2168-8184</eissn><abstract>Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant condition characterized by a predisposition to multiple basal cell carcinomas (BCCs) and other neoplasms and is commonly associated with pathogenic variants in the PTCH1 or SUFU tumor suppressor genes. However, the absence of these genetic markers does not preclude the diagnosis due to the variable genetic expression of the syndrome. Diagnosis relies on a set of established major and minor criteria, particularly when genetic testing fails to identify the typical pathogenic variants. The primary clinical manifestation of GGS is the development of multiple BCCs. While these typically exhibit slow growth and remain localized, they can manifest more aggressive behavior in individuals with GGS, including local invasiveness and metastatic potential. Moreover, patients with GGS display heightened sensitivity to ionizing radiation, leading to general contraindications for radiation therapy (RT) due to the risk of inducing additional BCCs. Despite these concerns, we report a case where RT was the only feasible treatment for an inoperable BCC that had metastasized to the parotid gland in a GGS patient. The successful use of RT, which resulted in a cure without adverse effects, illustrates that RT may be a viable option for some GGS patients, reflecting individual variability in radiation sensitivity. This case underscores the importance of personalized treatment plans in managing the complex presentations of GGS, challenging the traditional constraints regarding the use of RT in these patients and suggesting the potential for its reconsideration under specific circumstances.</abstract><cop>United States</cop><pub>Cureus Inc</pub><pmid>39295706</pmid><doi>10.7759/cureus.67152</doi><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier ISSN: 2168-8184
ispartof Curēus (Palo Alto, CA), 2024-08, Vol.16 (8), p.e67152
issn 2168-8184
2168-8184
language eng
recordid cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11408743
source Publicly Available Content Database (Proquest) (PQ_SDU_P3); PubMed Central
subjects Cancer
Case reports
Dermatology
Exocrine glands
Genetic testing
Lymphatic system
Metastasis
Oncology
Plastic surgery
Radiation Oncology
Radiation therapy
Tomography
Tumors
title Successful Radiotherapy for Metastatic Basal Cell Carcinoma to the Parotid Gland in a Patient With Gorlin-Goltz Syndrome
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-05T15%3A37%3A02IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Successful%20Radiotherapy%20for%20Metastatic%20Basal%20Cell%20Carcinoma%20to%20the%20Parotid%20Gland%20in%20a%20Patient%20With%20Gorlin-Goltz%20Syndrome&rft.jtitle=Cur%C4%93us%20(Palo%20Alto,%20CA)&rft.au=Neaga,%20Stefan&rft.date=2024-08-18&rft.volume=16&rft.issue=8&rft.spage=e67152&rft.pages=e67152-&rft.issn=2168-8184&rft.eissn=2168-8184&rft_id=info:doi/10.7759/cureus.67152&rft_dat=%3Cproquest_pubme%3E3111420409%3C/proquest_pubme%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-p263t-30ada702966fccdb82a169a0f740c8776d47a1c1efa60b0136b61429e6949dd53%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=3111420409&rft_id=info:pmid/39295706&rfr_iscdi=true