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  1. Article ; Online: Aggressive fibromatosis-like tumour with ANGPTL2::USP6 fusion.

    Mejbel, Haider A / Morris, Jonathan / Bahrami, Armita

    Histopathology

    2024  Volume 84, Issue 7, Page(s) 1243–1245

    MeSH term(s) Humans ; Ubiquitin Thiolesterase/genetics ; Angiopoietin-like Proteins/genetics ; Angiopoietin-like Proteins/metabolism ; Angiopoietin-Like Protein 2 ; Fibromatosis, Aggressive/pathology ; Fibromatosis, Aggressive/genetics ; Female ; Male ; Angiopoietins/genetics
    Chemical Substances Ubiquitin Thiolesterase (EC 3.4.19.12) ; Angiopoietin-like Proteins ; Angiopoietin-Like Protein 2 ; ANGPTL2 protein, human ; USP6 protein, human (EC 3.4.19.12) ; Angiopoietins
    Language English
    Publishing date 2024-02-20
    Publishing country England
    Document type Case Reports ; Letter
    ZDB-ID 131914-0
    ISSN 1365-2559 ; 0309-0167
    ISSN (online) 1365-2559
    ISSN 0309-0167
    DOI 10.1111/his.15158
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Superficial dedifferentiated liposarcoma: A clinicopathologic study.

    Bourgeau, Melanie / Gandhi, Jatin S / Deeb, Kristin K / Bahrami, Armita

    Human pathology

    2024  Volume 145, Page(s) 63–70

    Abstract: Introduction: Dedifferentiation occurs in approximately 10% of atypical lipomatous tumors/well-differentiated liposarcomas (ALT/WDLPS), primarily in retroperitoneal or deep-seated tumors, conferring metastatic potential. Superficial dedifferentiated ... ...

    Abstract Introduction: Dedifferentiation occurs in approximately 10% of atypical lipomatous tumors/well-differentiated liposarcomas (ALT/WDLPS), primarily in retroperitoneal or deep-seated tumors, conferring metastatic potential. Superficial dedifferentiated liposarcoma (sDDLPS) is rare, and its progression and natural history are poorly documented.
    Methods: We performed a 15-year retrospective review of our pathology database to identify cases of DDLPS in the skin or subcutaneous tissue. Diagnosis of primary sDDLPS required evidence of non-lipogenic sarcoma in the skin or subcutis, with concurrent ALT/WDLPS and/or MDM2 amplification.
    Results: We identified 14 cases of DDLPS involving skin or subcutis: 7 primary sDDLPS and 7 secondary lesions (3 from recurrent deep DDLPS and 4 from metastasis). Primary sDDLPS cases (4 females, 3 males; median age: 74) mainly presented as undifferentiated spindle cell or pleomorphic sarcoma. Tumor grades were grade 2 (5 cases) and grade 3 (2 cases), with three cases also showing grade 1 areas. MDM2 amplification was confirmed in 6 sDDLPSs for which FISH was successfully performed. Follow-up available for 6 sDDLPS patients showed 2 local recurrences, treated with re-excision and radiation therapy, with all disease-free at last follow-up (5-126 months). Of the 7 secondary cases, 2 had ongoing disease after multiple recurrences, 1 was disease-free, and all 4 with cutaneous metastasis died of disease (follow-up range: 24-263 months).
    Conclusion: These findings emphasize the importance of distinguishing between primary sDDLPS and secondary lesions due to their distinct prognoses. Metastasis or superficial extensions from deep DDLP correlate with a considerably worse prognosis than those originating in superficial tissues.
    MeSH term(s) Female ; Male ; Humans ; Aged ; Skin ; Lipoma ; Sarcoma ; Skin Neoplasms/genetics ; Skin Neoplasms/therapy ; Liposarcoma/genetics ; Proto-Oncogene Proteins c-mdm2/genetics
    Chemical Substances Proto-Oncogene Proteins c-mdm2 (EC 2.3.2.27)
    Language English
    Publishing date 2024-02-27
    Publishing country United States
    Document type Journal Article
    ZDB-ID 207657-3
    ISSN 1532-8392 ; 0046-8177
    ISSN (online) 1532-8392
    ISSN 0046-8177
    DOI 10.1016/j.humpath.2024.02.008
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: A Contemporary Clinicopathologic Analysis of Primary Sarcomas of the Perinephric Soft Tissue and Hilar Vessels Including a Subset Secondarily Involving the Kidney.

    Scheiderer, Ashley N / Bahrami, Armita / Master, Viraj A / Osunkoya, Adeboye O

    International journal of surgical pathology

    2022  Volume 31, Issue 7, Page(s) 1179–1186

    Abstract: A variety of primary malignant mesenchymal neoplasms can arise from the perinephric soft tissue and hilar vessels and potentially involve the kidney, mimicking primary renal tumors. A search was made at our institution for patients that underwent radical ...

    Abstract A variety of primary malignant mesenchymal neoplasms can arise from the perinephric soft tissue and hilar vessels and potentially involve the kidney, mimicking primary renal tumors. A search was made at our institution for patients that underwent radical nephrectomy with associated perinephric or hilar sarcomas from 2010 to 2021. Twenty-six patients were identified. Mean patient age was 60 years (range: 34-83 years), with 16 (62%) females and 10 (38%) males. The mean tumor size was 21.6 cm (range: 8.1-36.5 cm). Among the perinephric/retroperitoneal sarcomas, 14/20 (70%) were dedifferentiated liposarcoma, 4/20 (20%) were well-differentiated liposarcoma, and 2/20 (10%) were leiomyosarcoma. There were 4 grade 1 (20%; all well-differentiated liposarcoma), 9 grade 2 (45%), and 7 grade 3 (35%) tumors. All 6 sarcomas arising from the renal vein/inferior vena cava were leiomyosarcoma: grade 2 in 1 (17%), grade 3 in 4 (67%), and ungraded (due to neoadjuvant therapy effect) in 1 (17%) patient. Four of the 26 (15%) tumors involved the ipsilateral kidney. All 4 tumors were grade 3 sarcomas. On follow-up, 8/26 (31%) patients developed local recurrence and/or metastasis. The mean time for recurrence was 22 months (range: 7-48 months). Two patients progressed with metastasis to the lungs, both of which were grade 3 leiomyosarcoma, and appeared 11 months after the initial diagnosis. Our data suggest that while local recurrence is prevalent with most subtypes of perinephric sarcomas, high-grade leiomyosarcoma has a distinct proclivity for distant metastasis, with the lungs being the most common site.
    MeSH term(s) Male ; Female ; Humans ; Adult ; Middle Aged ; Aged ; Aged, 80 and over ; Leiomyosarcoma/diagnosis ; Leiomyosarcoma/surgery ; Sarcoma/diagnosis ; Sarcoma/surgery ; Sarcoma/pathology ; Liposarcoma/diagnosis ; Liposarcoma/surgery ; Liposarcoma/pathology ; Kidney Neoplasms/surgery ; Kidney Neoplasms/pathology ; Soft Tissue Neoplasms/diagnosis ; Soft Tissue Neoplasms/surgery ; Soft Tissue Neoplasms/pathology ; Kidney/pathology ; Retrospective Studies ; Neoplasm Recurrence, Local
    Language English
    Publishing date 2022-11-27
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1336393-1
    ISSN 1940-2465 ; 1066-8969
    ISSN (online) 1940-2465
    ISSN 1066-8969
    DOI 10.1177/10668969221133356
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: UVEAL MELANOMA PRESENTING AS HEPATIC METASTASIS IN A PATIENT WITH OCULODERMAL MELANOCYTOSIS.

    Evans, William I / Wilson, Matthew W / Bahrami, Armita / Pappo, Alberto S / Hoehn, Mary E

    Retinal cases & brief reports

    2023  Volume 17, Issue 4, Page(s) 403–405

    Abstract: Purpose: To report an atypical case of occult uveal melanoma in a patient with oculodermal melanocytosis that first presented with symptoms of hepatic metastasis.: Methods: A previously healthy 16-year-old boy with noted ocular hyperpigmentation ... ...

    Abstract Purpose: To report an atypical case of occult uveal melanoma in a patient with oculodermal melanocytosis that first presented with symptoms of hepatic metastasis.
    Methods: A previously healthy 16-year-old boy with noted ocular hyperpigmentation developed abdominal pain and vomiting and was found to have a hepatic mass consistent with a metastatic lesion from an occult uveal melanoma.
    Results: On examination, the patient's visual acuity was 20/20, and pupils were reactive without an afferent pupillary defect in both eyes. Examination of the left eye revealed normal findings. In the right eye, conjunctiva was freely moving over hyperpigmented sclera. Dilated fundus examination demonstrated a hyperpigmented, minimally elevated, choroidal mass in the right eye. Results of fundus autofluorescence, IV fluorescein angiography, spectral-domain optical coherence tomography, and ultrasonography were suspicious for uveal melanoma. Genetic testing of the hepatic mass was positive for BAP1, confirming that the metastasis originated as uveal melanoma rather than cutaneous or intracranial melanoma. Magnetic resonance imaging of the brain and orbits showed negative impression for intracranial lesions. A PET scan revealed numerous additional metastatic lesions, and the patient was referred to palliative care.
    Conclusion: Patients with oculodermal melanocytosis are at an increased risk for both uveal melanoma and subsequent metastasis, and frequent monitoring should be performed because treatment options for metastatic uveal melanoma are limited.
    MeSH term(s) Male ; Humans ; Adolescent ; Melanoma/pathology ; Uveal Neoplasms/pathology ; Choroid/pathology ; Liver Neoplasms
    Language English
    Publishing date 2023-06-26
    Publishing country United States
    Document type Case Reports ; Journal Article
    ISSN 1937-1578
    ISSN (online) 1937-1578
    DOI 10.1097/ICB.0000000000001205
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Adult-onset Langerhans cell histiocytosis of bone: A case series highlighting a rare entity.

    Javadi, Tiffany / Hill, Charles / McLemore, Morgan Lee / Oskouei, Shervin / Bahrami, Armita

    Annals of diagnostic pathology

    2023  Volume 66, Page(s) 152171

    Abstract: Langerhans cell histiocytosis (LCH) is a neoplastic disorder derived from LCH precursor cells that can manifest as a single-system disease or a multisystem disorder. While extensively studied in children, LCH has received less attention in adult patients. ...

    Abstract Langerhans cell histiocytosis (LCH) is a neoplastic disorder derived from LCH precursor cells that can manifest as a single-system disease or a multisystem disorder. While extensively studied in children, LCH has received less attention in adult patients. We aimed to investigate the pathology and clinical course of LCH in adults presenting with a bone lesion. Cases of osseous LCH diagnosed in patients ≥18 in our center were analyzed. Histologic slides were reviewed, and clinical data were collated. Molecular analysis for BRAF mutation was performed in a subset. Twelve osseous LCH cases with classic morphology and CD1a+/S100+ immunophenotype were identified. Tumors occurred in six females and five males with a median age of 34 years (range: 18-77 years) and involved the craniofacial bones (4), pelvis (3), spine (2), appendicular skeleton (2), and rib (1). Radiographically, tumors appeared as ill-defined lytic lesions, often accompanied by cortical erosion and soft tissue extension, with pain being the most common presentation. On staging work-up with available data, two patients had multifocal bone lesions, two had multi-system disease, and four had solitary lesions. Two patients had prior or concurrent neoplasms, and 63 % of patients (5 out of 8) had a history of smoking. BRAF mutational analysis performed in six cases revealed a BRAF
    MeSH term(s) Male ; Child ; Female ; Humans ; Adult ; Adolescent ; Young Adult ; Middle Aged ; Aged ; Proto-Oncogene Proteins B-raf/genetics ; Histiocytosis, Langerhans-Cell/genetics ; Histiocytosis, Langerhans-Cell/diagnosis ; Neoplasms ; Bone and Bones/pathology ; Mutation
    Chemical Substances Proto-Oncogene Proteins B-raf (EC 2.7.11.1)
    Language English
    Publishing date 2023-06-02
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1440011-x
    ISSN 1532-8198 ; 1092-9134
    ISSN (online) 1532-8198
    ISSN 1092-9134
    DOI 10.1016/j.anndiagpath.2023.152171
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Regional lymph node evaluation in pediatric conventional melanoma subtype: a single-center 10-year review.

    Sutthatarn, Pattamon / Davidoff, Andrew M / Bahrami, Armita / Richard, Celine / Shalini, Bhatia / Santiago, Teresa C / Shulkin, Barry L / Pappo, Alberto S / Abdelhafeez, Abdelhafeez

    Pediatric surgery international

    2024  Volume 40, Issue 1, Page(s) 68

    Abstract: Purpose: To assess the prognostic and therapeutic significance of sentinel lymph node biopsy (SLNB) and completion lymph node dissection (CLND) in pediatric conventional melanoma (CM), while evaluating potential predictive factors for outcomes.: ... ...

    Abstract Purpose: To assess the prognostic and therapeutic significance of sentinel lymph node biopsy (SLNB) and completion lymph node dissection (CLND) in pediatric conventional melanoma (CM), while evaluating potential predictive factors for outcomes.
    Methods: We conducted a retrospective analysis of medical records spanning 2009-2020, focusing on patients aged 18 or younger with localized cutaneous conventional melanoma.
    Results: Among the 33 patients, SLNB detected metastasis in 57.6% of cases, with 52.6% undergoing CLND. Positive SLN patients had higher relapse risk (HR 5.92; 95% CI 1.27-27.7; P = 0.024) but similar overall survival (HR 3.19; 95% CI 0.31-33.1, P = 0.33). No significant differences in disease-free survival (DFS) and OS were found between patients who underwent CLND and those who did not (HR 1.91; 95% CI 0.49-7.43, P = 0.35, and HR 0.52; 95% CI 0.03-8.32, P = 0.64, respectively). Univariate analysis showed age at diagnosis (P = 0.02) correlated with higher recurrence risk, with a 21% hazard increase per additional year of age.
    Conclusions: Positive SLN status and age at diagnosis were associated with worse DFS in CM patients. Our study did not find any prognostic or therapeutic value in CLND for pediatric melanoma. Further multicenter trials are needed to confirm our single-institution experience.
    Level of evidence: Level IV.
    MeSH term(s) Humans ; Child ; Melanoma/surgery ; Retrospective Studies ; Lymph Nodes ; Skin Neoplasms/surgery ; Disease-Free Survival
    Language English
    Publishing date 2024-03-05
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 632773-4
    ISSN 1437-9813 ; 0179-0358
    ISSN (online) 1437-9813
    ISSN 0179-0358
    DOI 10.1007/s00383-024-05646-8
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  7. Article ; Online: Myoepithelial Tumors of Bone with EWSR1::PBX3 Fusion: A Spectrum from Benign to Malignant.

    Gandhi, Jatin S / Schneider, Thomas / Thangaiah, Judith / Lauer, Scott R / Gjeorgjievski, Sandra Gjorgova / Baumhoer, Daniel / Folpe, Andrew L / Bahrami, Armita

    Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

    2024  , Page(s) 100514

    Abstract: The EWSR1::PBX3 fusion gene, commonly associated with cutaneous syncytial myoepitheliomas, is also found in myoepithelial tumors (METs) of bone and soft tissue. These tumors typically demonstrate benign histology and favorable outcomes. This study ... ...

    Abstract The EWSR1::PBX3 fusion gene, commonly associated with cutaneous syncytial myoepitheliomas, is also found in myoepithelial tumors (METs) of bone and soft tissue. These tumors typically demonstrate benign histology and favorable outcomes. This study examines six previously unreported intraosseous METs harboring the EWSR1::PBX3 fusion, focusing on their histopathologic characteristics, immunophenotype, clinical and radiographic profiles, and patient outcomes. The cohort comprised five males and one female, aged 25 to 65 years (median age 31), with tumors located in the proximal tibia (three cases), distal radius (two cases), and ilium (one case), and sizes between 3.2 to 12.2 cm (median size 3.9 cm). Imaging showed osteolytic lesions with varying degrees of cortical involvement and soft tissue extension in three cases. Histologically, four tumors showed mainly uniform oval-to-spindled cells in syncytial or fascicular arrangements within a collagenous matrix, displaying either bland nuclear features or mild atypia, and low to slightly elevated mitotic activity (≤1 per 10 HPF in three cases and 6 per 10 HPFs in one), classifying them as benign or atypical METs. In contrast, two tumors exhibited pronounced nuclear atypia with ovoid, spindled, epithelioid and round cells, hyperchromatic nuclei, inconspicuous nucleoli, increased N/C ratios, high mitotic rates (17 and 19 per 10 HPFs), and extensive necrosis. Both tumors behaved aggressively-one patient underwent amputation after neoadjuvant chemotherapy and radiation, while the other died with the disease. Immunohistochemically, the tumors consistently expressed EMA and S100, but lacked keratin (AE1/AE3) expression. Our study demonstrates that bone METs with EWSR1::PBX3 fusions encompass a histologic continuum from benign to malignant, with benign/atypical METs mirroring their cutaneous analogs in morphology and malignant variants distinguished by heterogenous cytologic and architectural features, pronounced nuclear atypia, and high mitotic rates.
    Language English
    Publishing date 2024-05-17
    Publishing country United States
    Document type Journal Article
    ZDB-ID 645073-8
    ISSN 1530-0285 ; 0893-3952
    ISSN (online) 1530-0285
    ISSN 0893-3952
    DOI 10.1016/j.modpat.2024.100514
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  8. Article ; Online: Cutaneous rhabdomyosarcoma with FUS::TFCP2 fusion: A case report emphasizing early detection.

    Demirkesen, Cuyan / Danyeli, Ayça Erşen / Yıldız, Pelin / Ertekin, Sümeyre Seda / Yılmaz, Berkhan / Karahan, Süleyman İzzet / Bahrami, Armita

    Journal of cutaneous pathology

    2023  Volume 50, Issue 12, Page(s) 1059–1064

    Abstract: Rhabdomyosarcoma with TFCP2 rearrangement is a recently identified malignant neoplasm characterized by immunohistochemical evidence of rhabdomyoblastic differentiation, keratin expression, upregulation of ALK, and an aggressive clinical course. This ... ...

    Abstract Rhabdomyosarcoma with TFCP2 rearrangement is a recently identified malignant neoplasm characterized by immunohistochemical evidence of rhabdomyoblastic differentiation, keratin expression, upregulation of ALK, and an aggressive clinical course. This neoplasm has a tendency to affect craniofacial bones, with only a few reported cases of extra-osseous tumors. Here, we present a case of cutaneous rhabdomyosarcoma with FUS::TFCP2 fusion in a 35-year-old female. Notably, the tumor exhibited a pathologic spectrum, initially resembling sclerosing dermatitis at presentation but progressing into a high-grade malignant tumor within 8 months. The distinctive immunoprofile of this neoplasm highlights the importance of early molecular studies for diagnosis, even in the presence of low-grade cytomorphology. Early detection may offer an opportunity for timely resection before the tumor becomes unresectable.
    MeSH term(s) Female ; Humans ; Adult ; Early Detection of Cancer ; Transcription Factors/metabolism ; Rhabdomyosarcoma/diagnosis ; Rhabdomyosarcoma/genetics ; Rhabdomyosarcoma/chemistry ; Bone Neoplasms ; Biomarkers, Tumor/genetics ; DNA-Binding Proteins ; RNA-Binding Protein FUS/metabolism
    Chemical Substances Transcription Factors ; Biomarkers, Tumor ; TFCP2 protein, human ; DNA-Binding Proteins ; FUS protein, human ; RNA-Binding Protein FUS
    Language English
    Publishing date 2023-09-05
    Publishing country United States
    Document type Case Reports
    ZDB-ID 187078-6
    ISSN 1600-0560 ; 0303-6987
    ISSN (online) 1600-0560
    ISSN 0303-6987
    DOI 10.1111/cup.14526
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  9. Article ; Online: Non-cutaneous syncytial myoepitheliomas are identical to cutaneous counterparts: a clinicopathologic study of 24 tumors occurring at diverse locations.

    Wangsiricharoen, Sintawat / Gjeorgjievski, Sandra G / Bahrami, Armita / Torres-Mora, Jorge / Zou, Ying S / Michal, Michael / Charville, Gregory W / Gross, John M

    Virchows Archiv : an international journal of pathology

    2023  Volume 483, Issue 5, Page(s) 665–675

    Abstract: Aims: Cutaneous syncytial myoepithelioma (CSM) is a rare myoepithelioma variant of skin, characterized by intradermal syncytial growth of spindle cells with a distinct immunophenotype of EMA and S100 positivity and infrequent keratin expression. While ... ...

    Abstract Aims: Cutaneous syncytial myoepithelioma (CSM) is a rare myoepithelioma variant of skin, characterized by intradermal syncytial growth of spindle cells with a distinct immunophenotype of EMA and S100 positivity and infrequent keratin expression. While CSM was first described as a cutaneous tumor, singular non-cutaneous cases have since been reported in bone. We aimed to investigate the clinicopathological features of this variant across all anatomic sites through a large multi-institutional study.
    Methods and results: We complied a total of 24 myoepitheliomas with syncytial growth from our files. The tumors occurred in 12 male and 12 female patients (M:F = 1:1), with a median age of 31 years (range, 9-69 years). While the majority of tumors (75%, n = 18) occurred in skin, a significant subset (25%, n = 6) arose in non-cutaneous sites, including bone (n = 3), bronchus/trachea (n = 2), and interosseous membrane of tibia/fibula (n = 1). Tumor size ranged from 0.4 to 5.9 cm. Clinical follow-up (7 patients; range 14-202 months; median 56.5 months) showed a single local recurrence 8 years after incomplete skin excision but no metastases; all patients were alive at the time of last follow-up without evidence of disease. Histologically, all tumors were pink at low-power and characterized by a syncytial growth of bland ovoid, spindled, or histiocytoid cells with eosinophilic cytoplasm and prominent perivascular lymphoplasmacytic inflammation. One-third displayed adipocytic metaplasia (8/24). Rare cytologic atypia was seen but was not associated with increased mitotic activity. All tumors expressed S100, SMA, and/or EMA. Keratin expression was absent in most cases. Molecular analysis was performed in 16 cases, all showing EWSR1-rearrangments. In total, 15/15 (100%) harbored an EWSR1::PBX3 fusion, whereas 1 case EWSR1 FISH was the only molecular study performed.
    Conclusion: Syncytial myoepithelioma is a rare but recognizable morphologic variant of myoepithelioma which may have a predilection for skin but also occurs in diverse non-cutaneous sites. Our series provides evidence supporting a reappraisal of the term "cutaneous syncytial myoepithelioma," as 25% of patients in our series presented with non-cutaneous tumors; thus, we propose the term "syncytial myoepithelioma" to aid pathologist recognition and avoidance of potentially confusing terminology when referring to non-cutaneous examples. The behavior of syncytial myoepithelioma, whether it arises in cutaneous or non-cutaneous sites, is indolent and perhaps benign with a small capacity for local recurrence.
    MeSH term(s) Humans ; Male ; Female ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Aged ; Myoepithelioma/pathology ; Biomarkers, Tumor/analysis ; Skin Neoplasms/pathology ; Neoplasms, Glandular and Epithelial ; Keratins
    Chemical Substances Biomarkers, Tumor ; Keratins (68238-35-7)
    Language English
    Publishing date 2023-08-07
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1184867-4
    ISSN 1432-2307 ; 0945-6317
    ISSN (online) 1432-2307
    ISSN 0945-6317
    DOI 10.1007/s00428-023-03609-3
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  10. Article ; Online: Pathology and genomics of pediatric melanoma: A critical reexamination and new insights.

    Bahrami, Armita / Barnhill, Raymond L

    Pediatric blood & cancer

    2017  Volume 65, Issue 2

    Abstract: The clinicopathologic features of pediatric melanoma are distinct from those of the adult counterpart. For example, most childhood melanomas exhibit a uniquely favorable biologic behavior, save for those arising in large/giant congenital nevi. Recent ... ...

    Abstract The clinicopathologic features of pediatric melanoma are distinct from those of the adult counterpart. For example, most childhood melanomas exhibit a uniquely favorable biologic behavior, save for those arising in large/giant congenital nevi. Recent studies suggest that the characteristically favorable biologic behavior of childhood melanoma may be related to extreme telomere shortening and dysfunction in the cancer cells. Herein, we review the genomic profiles that have been defined for the different subtypes of pediatric melanoma and particularly emphasize the potential prognostic value of telomerase reverse transcriptase alterations for these tumors.
    MeSH term(s) Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Genomics ; Humans ; Infant ; Infant, Newborn ; Male ; Melanoma/genetics ; Melanoma/metabolism ; Melanoma/pathology ; Neoplasm Proteins/genetics ; Neoplasm Proteins/metabolism ; Telomerase/genetics ; Telomerase/metabolism ; Telomere/genetics ; Telomere/metabolism ; Telomere/pathology ; Telomere Homeostasis/genetics
    Chemical Substances Neoplasm Proteins ; TERT protein, human (EC 2.7.7.49) ; Telomerase (EC 2.7.7.49)
    Language English
    Publishing date 2017-09-12
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2131448-2
    ISSN 1545-5017 ; 1545-5009
    ISSN (online) 1545-5017
    ISSN 1545-5009
    DOI 10.1002/pbc.26792
    Database MEDical Literature Analysis and Retrieval System OnLINE

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