Cytogenetic/mutation profile of chronic lymphocytic leukemia/malignant melanoma collision tumors of the skin
Abstract Background Collision tumors are rare entities that consist of two histologically distinct tumor types arising in the same anatomic site. An association between chronic lymphocytic leukemia (CLL) and malignant melanoma (MM) has been already described. Up to now, they have been documented onl...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2018-01-01
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| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13039-017-0353-1 |
| _version_ | 1819034592267468800 |
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| author | Roberta La Starza Tiziana Pierini Lorenza Pastorino Elisa Albi Caterina Matteucci Barbara Crescenzi Paolo Sportoletti Piero Covarelli Franca Falzetti Giovanni Roti Stefano Ascani Cristina Mecucci |
| author_facet | Roberta La Starza Tiziana Pierini Lorenza Pastorino Elisa Albi Caterina Matteucci Barbara Crescenzi Paolo Sportoletti Piero Covarelli Franca Falzetti Giovanni Roti Stefano Ascani Cristina Mecucci |
| author_sort | Roberta La Starza |
| collection | DOAJ |
| description | Abstract Background Collision tumors are rare entities that consist of two histologically distinct tumor types arising in the same anatomic site. An association between chronic lymphocytic leukemia (CLL) and malignant melanoma (MM) has been already described. Up to now, they have been documented only at positive regional lymph nodes while we focused on collision tumor in a skin lesion. Case presentation We characterized the genomic profile of a skin CLL/MM collision tumor in a patient with a 9-years story of CLL. Typical high-grade genomic biomarkers featured the CLL: the immunoglobulin heavy variable genes were unmutated; a clonal del(11q), involving ATM and BIRC3, was present in the peripheral blood (PB) and skin lesion, while a subclonal large del(13q)/D13S319-RB1 was detected only in the PB. Interestingly, the del(13q) clone, increased from 10% to 46% from diagnosis to relapse. NOTCH1, SF3B1, and TP53 were wild type. The MM lesion carried a BRAFV600E and a TERT promoter mutation. As the family story was consistent with a genetic predisposition to cancer, we performed mutational analysis of genes involved in familial melanoma and CLL, and of BRCA1 and BRCA2. No germinal mutation known to predispose to CLL, MM, or breast cancer was found. Interestingly, conventional cytogenetic detected a constitutional t(12;17)(p13;p13). Conclusions Our data are consistent with distinct genetic landscape of the two tumors which were characterized by specific disease-related abnormalities. CLL cells carried poor prognostic imbalances, i.e. large deletions of the long arm of chromosomes 11 and 13, while in MM cells two functionally linked mutations, i.e. BRAFV600E and a TERT promoter occurred. Although, known germline variations predisposing to MM and/or CLL were ruled out, genetic counseling suggested the proband family was at high risk for MM. |
| first_indexed | 2024-12-21T07:36:11Z |
| format | Article |
| id | doaj.art-570ee78259ae4b429f4a3deddba5327e |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-12-21T07:36:11Z |
| publishDate | 2018-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-570ee78259ae4b429f4a3deddba5327e2022-12-21T19:11:27ZengBMCMolecular Cytogenetics1755-81662018-01-011111610.1186/s13039-017-0353-1Cytogenetic/mutation profile of chronic lymphocytic leukemia/malignant melanoma collision tumors of the skinRoberta La Starza0Tiziana Pierini1Lorenza Pastorino2Elisa Albi3Caterina Matteucci4Barbara Crescenzi5Paolo Sportoletti6Piero Covarelli7Franca Falzetti8Giovanni Roti9Stefano Ascani10Cristina Mecucci11Molecular Medicine Laboratory, Hematology and Bone Marrow Transplantation Unit, University of Perugia, Hospital S. Maria della MisericordiaMolecular Medicine Laboratory, Hematology and Bone Marrow Transplantation Unit, University of Perugia, Hospital S. Maria della MisericordiaDepartment of Internal Medicine and Medical Specialties (DiMI), University of Genova and IRCCS AOU San Martino-ISTMolecular Medicine Laboratory, Hematology and Bone Marrow Transplantation Unit, University of Perugia, Hospital S. Maria della MisericordiaMolecular Medicine Laboratory, Hematology and Bone Marrow Transplantation Unit, University of Perugia, Hospital S. Maria della MisericordiaMolecular Medicine Laboratory, Hematology and Bone Marrow Transplantation Unit, University of Perugia, Hospital S. Maria della MisericordiaMolecular Medicine Laboratory, Hematology and Bone Marrow Transplantation Unit, University of Perugia, Hospital S. Maria della MisericordiaDepartment of Surgery, University of PerugiaMolecular Medicine Laboratory, Hematology and Bone Marrow Transplantation Unit, University of Perugia, Hospital S. Maria della MisericordiaC.S. Ematology and Center of bone marrow transplants, University and Hospital of ParmaInstitute of Pathology, University of Perugia and Hospital S. Maria di TerniMolecular Medicine Laboratory, Hematology and Bone Marrow Transplantation Unit, University of Perugia, Hospital S. Maria della MisericordiaAbstract Background Collision tumors are rare entities that consist of two histologically distinct tumor types arising in the same anatomic site. An association between chronic lymphocytic leukemia (CLL) and malignant melanoma (MM) has been already described. Up to now, they have been documented only at positive regional lymph nodes while we focused on collision tumor in a skin lesion. Case presentation We characterized the genomic profile of a skin CLL/MM collision tumor in a patient with a 9-years story of CLL. Typical high-grade genomic biomarkers featured the CLL: the immunoglobulin heavy variable genes were unmutated; a clonal del(11q), involving ATM and BIRC3, was present in the peripheral blood (PB) and skin lesion, while a subclonal large del(13q)/D13S319-RB1 was detected only in the PB. Interestingly, the del(13q) clone, increased from 10% to 46% from diagnosis to relapse. NOTCH1, SF3B1, and TP53 were wild type. The MM lesion carried a BRAFV600E and a TERT promoter mutation. As the family story was consistent with a genetic predisposition to cancer, we performed mutational analysis of genes involved in familial melanoma and CLL, and of BRCA1 and BRCA2. No germinal mutation known to predispose to CLL, MM, or breast cancer was found. Interestingly, conventional cytogenetic detected a constitutional t(12;17)(p13;p13). Conclusions Our data are consistent with distinct genetic landscape of the two tumors which were characterized by specific disease-related abnormalities. CLL cells carried poor prognostic imbalances, i.e. large deletions of the long arm of chromosomes 11 and 13, while in MM cells two functionally linked mutations, i.e. BRAFV600E and a TERT promoter occurred. Although, known germline variations predisposing to MM and/or CLL were ruled out, genetic counseling suggested the proband family was at high risk for MM.http://link.springer.com/article/10.1186/s13039-017-0353-1Collision tumorCLLMelanomaMolecular cytogeneticsMutational analysis |
| spellingShingle | Roberta La Starza Tiziana Pierini Lorenza Pastorino Elisa Albi Caterina Matteucci Barbara Crescenzi Paolo Sportoletti Piero Covarelli Franca Falzetti Giovanni Roti Stefano Ascani Cristina Mecucci Cytogenetic/mutation profile of chronic lymphocytic leukemia/malignant melanoma collision tumors of the skin Molecular Cytogenetics Collision tumor CLL Melanoma Molecular cytogenetics Mutational analysis |
| title | Cytogenetic/mutation profile of chronic lymphocytic leukemia/malignant melanoma collision tumors of the skin |
| title_full | Cytogenetic/mutation profile of chronic lymphocytic leukemia/malignant melanoma collision tumors of the skin |
| title_fullStr | Cytogenetic/mutation profile of chronic lymphocytic leukemia/malignant melanoma collision tumors of the skin |
| title_full_unstemmed | Cytogenetic/mutation profile of chronic lymphocytic leukemia/malignant melanoma collision tumors of the skin |
| title_short | Cytogenetic/mutation profile of chronic lymphocytic leukemia/malignant melanoma collision tumors of the skin |
| title_sort | cytogenetic mutation profile of chronic lymphocytic leukemia malignant melanoma collision tumors of the skin |
| topic | Collision tumor CLL Melanoma Molecular cytogenetics Mutational analysis |
| url | http://link.springer.com/article/10.1186/s13039-017-0353-1 |
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