RESUMEN
Salivary gland carcinoma is a rare form of head and neck carcinoma, but it comprises a variety of subsites and histologic subtypes that each present with unique clinical courses and management challenges. Preoperative work-up generally consists of fine-needle aspiration cytology and MRI. However, because of the large variety of subtypes, there are often challenges obtaining a histologic diagnosis before surgery. Upfront surgery at the primary site leads to the greatest improvement in survival. Posttreatment surveillance of these patients is important. This article discusses some of the current controversies in the management of salivary gland carcinomas.
Asunto(s)
Neoplasias de las Glándulas Salivales , Humanos , Neoplasias de las Glándulas Salivales/terapia , Neoplasias de las Glándulas Salivales/patología , Neoplasias de las Glándulas Salivales/diagnósticoRESUMEN
Salivary gland carcinomas are a heterogeneous group of rare tumors. There is no established standard of care therapy for metastatic disease. We describe the case of a patient with metastatic salivary gland adenocarcinoma harboring STRN-ALK translocation, with tumor response and clinical benefit from anaplastic lymphoma kinase (ALK) inhibition. Our patient experienced clinical benefit from first and second generation ALK inhibition in a chemotherapy refractory tumor. Tumor mutation profiling can identify mutations that may render tumors sensitive to targeted therapy with tyrosine kinase inhibitors.
Asunto(s)
Quinasa de Linfoma Anaplásico , Neoplasias de las Glándulas Salivales , Humanos , Neoplasias de las Glándulas Salivales/tratamiento farmacológico , Neoplasias de las Glándulas Salivales/genética , Neoplasias de las Glándulas Salivales/patología , Quinasa de Linfoma Anaplásico/genética , Quinasa de Linfoma Anaplásico/antagonistas & inhibidores , Masculino , Inhibidores de Proteínas Quinasas/uso terapéutico , Adenocarcinoma/tratamiento farmacológico , Adenocarcinoma/genética , Adenocarcinoma/patología , Persona de Mediana Edad , Femenino , Proteínas de Unión a Calmodulina , Proteínas de la Membrana , Proteínas del Tejido NerviosoRESUMEN
RATIONAL: Pleomorphic adenoma (PA) is a rare benign tumor mainly affecting the major salivary glands, known for its diverse histological appearances that can mimic malignancies. When it occurs in the hard palate it present diagnostic and management challenges compared to other sites due to the anatomical location and potential proximity to critical structures. This case reports a rare presentation PA starting as an ulcer, alongside a review of rare cases of PA reported in last 5 years. We aim to highlight clinical challenges and emphasize the need for awareness in diagnosis of this diverse entity amongst the clinicians before reaching a definitive conclusion. PATIENT CONCERNS: A 41-year-old female reported an asymptomatic large swelling on the right side of the posterior palatal region. Clinical diagnosis revealed a firm, rubbery, and non-tender swelling of approximately 4 cmâ ×â 4 cm diameter. A triangular incisional biopsy was performed to confirm the diagnosis. DIAGNOSIS: The histopathological evaluation confirmed the presence of a PA with a well-encapsulated and compressed salivary gland. A wide surgical dissection was made to remove the entire encapsulated tumor mass, including the mucoperiosteum and eroded bone of the palate. The borderline of the tumor was carefully identified in the surrounding healthy tissue. The hemostasis was obtained using a simple interrupted suture. LESSON: The diagnosis of PA is difficult as it usually involves extensive squamous and mucous metaplasia, confusing it with malignant disorders. Histopathological and clinical examinations are important for differentiating this lesion from other tumors. Complete surgical excision is reported as the first line of treatment.
Asunto(s)
Adenoma Pleomórfico , Paladar Duro , Neoplasias de las Glándulas Salivales , Humanos , Adenoma Pleomórfico/patología , Adenoma Pleomórfico/cirugía , Adenoma Pleomórfico/diagnóstico , Femenino , Adulto , Paladar Duro/patología , Paladar Duro/cirugía , Neoplasias de las Glándulas Salivales/patología , Neoplasias de las Glándulas Salivales/diagnóstico , Neoplasias de las Glándulas Salivales/cirugía , Neoplasias Palatinas/patología , Neoplasias Palatinas/diagnóstico , Neoplasias Palatinas/cirugía , Diagnóstico DiferencialRESUMEN
Salivary gland tumors are highly variable in clinical presentation and histology. The World Health Organization (WHO) classifies 22 types of malignant and 11 types of benign tumors of the salivary glands. Diagnosis of salivary gland tumors is based on imaging (ultrasound, magnetic resonance imaging) and fine-needle aspiration biopsy, but the final diagnosis is based on histopathological examination of the removed tumor tissue. In this pilot study, we are testing a new approach to identifying peptide biomarkers in saliva that can be used to diagnose salivary gland tumors. The research material for the peptidomic studies was extracts from washings of neoplastic tissues and healthy tissues (control samples). At the same time, saliva samples from patients and healthy individuals were analyzed. The comparison of the peptidome composition of tissue extracts and saliva samples may allow the identification of potential peptide markers of salivary gland tumors in patients' saliva. The peptidome compositions extracted from 18 tumor and 18 healthy tissue samples, patients' saliva samples (11 samples), and healthy saliva samples (8 samples) were analyzed by LC-MS tandem mass spectrometry. A group of 109 peptides was identified that were present only in the tumor tissue extracts and in the patients' saliva samples. Some of the identified peptides were derived from proteins previously suggested as potential biomarkers of salivary gland tumors (ANXA1, BPIFA2, FGB, GAPDH, HSPB1, IGHG1, VIM) or tumors of other tissues or organs (SERPINA1, APOA2, CSTB, GSTP1, S100A8, S100A9, TPI1). Unfortunately, none of the identified peptides were present in all samples analyzed. This may be due to the high heterogeneity of this type of cancer. The surprising result was that extracts from tumor tissue did not contain peptides derived from salivary gland-specific proteins (STATH, SMR3B, HTN1, HTN3). These results could suggest that the developing tumor suppresses the production of proteins that are essential components of saliva.
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Biomarcadores de Tumor , Glándula Parótida , Saliva , Humanos , Saliva/química , Saliva/metabolismo , Masculino , Glándula Parótida/patología , Glándula Parótida/metabolismo , Glándula Parótida/química , Femenino , Biomarcadores de Tumor/análisis , Persona de Mediana Edad , Adulto , Proteoma/análisis , Proteómica/métodos , Péptidos/análisis , Anciano , Espectrometría de Masas en Tándem , Neoplasias de las Glándulas Salivales/diagnóstico , Neoplasias de las Glándulas Salivales/patología , Neoplasias de las Glándulas Salivales/metabolismo , Proyectos PilotoRESUMEN
Although immune checkpoint inhibitors (ICIs) are effective in some patients with salivary gland carcinoma (SGC), biomarkers which predict the efficacy and prognosis of SGC patients treated with pembrolizumab have not been identified. We conducted a multi-institutional retrospective cohort study to evaluate the efficacy and safety of pembrolizumab monotherapy in patients with recurrent and/or metastatic SGC and to determine optimal cut-off values of the combined positive score (CPS) and tumor proportion score (TPS) as numerical expression levels of programmed death-ligand 1 (PD-L1), which predict the efficacy of pembrolizumab. Furthermore, we investigated the association of patient characteristics and hematological markers with clinical outcomes, including overall response rate (ORR), progression-free survival (PFS), and overall survival (OS). From 2016 to 2021, 27 patients were included in the analysis. ORR of SGC was 25.9%. Optimal cut-off values of CPS and TPS were 15 and 25%, respectively. ORRs of CPS-high and TPS-high were 55.6 and 75.0%, respectively, and significantly higher than those of CPS-low and TPS-low. Furthermore, patients with a low platelet-lymphocyte ratio (PLR) had a significantly longer PFS. No grade 4 or greater adverse events were observed. This study demonstrated the efficacy and safety of pembrolizumab monotherapy and identified optimal cut-off values of CPS and TPS.
Asunto(s)
Anticuerpos Monoclonales Humanizados , Antígeno B7-H1 , Biomarcadores de Tumor , Neoplasias de las Glándulas Salivales , Humanos , Anticuerpos Monoclonales Humanizados/uso terapéutico , Neoplasias de las Glándulas Salivales/tratamiento farmacológico , Neoplasias de las Glándulas Salivales/patología , Neoplasias de las Glándulas Salivales/metabolismo , Neoplasias de las Glándulas Salivales/mortalidad , Masculino , Femenino , Persona de Mediana Edad , Anciano , Antígeno B7-H1/metabolismo , Biomarcadores de Tumor/metabolismo , Estudios Retrospectivos , Adulto , Recurrencia Local de Neoplasia/tratamiento farmacológico , Recurrencia Local de Neoplasia/patología , Pronóstico , Metástasis de la Neoplasia , Antineoplásicos Inmunológicos/uso terapéutico , Anciano de 80 o más Años , Resultado del Tratamiento , Supervivencia sin ProgresiónRESUMEN
Fine-needle aspiration represents a valid tool for the diagnosis/management of salivary gland lesions. The past years assessed the lack of uniform diagnostic reports for salivary cytopathology leading to interpretative issues. In 2015, an international group of cytopathologists developed an evidence-based tiered classification system for reporting salivary gland fine-needle aspiration (FNA) specimens, the "Milan System for Reporting Salivary Gland Cytopathology" (MSRSGC). The present landscape of salivary cytology is represented by the growing adoption of the MSRSGC and the assessment of its diagnostic role. The future landscape is characterized by the increasing role of ancillary techniques for diagnostic and prognostic purposes.
Asunto(s)
Neoplasias de las Glándulas Salivales , Glándulas Salivales , Humanos , Biopsia con Aguja Fina/métodos , Neoplasias de las Glándulas Salivales/patología , Neoplasias de las Glándulas Salivales/diagnóstico , Glándulas Salivales/patología , PronósticoRESUMEN
BACKGROUND: ETV6 gene rearrangement is the molecular hallmark of secretory carcinoma (SC), however; the nature, frequency, and clinical implications of atypical ETV6 signal patterns by fluorescence in situ hybridization (FISH) has not yet been systematically evaluated in salivary gland neoplasms. METHODS: The clinical, histopathologic, immunohistochemical and molecular features of seven salivary SCs, including four cases with atypical ETV6 FISH patterns, were retrospectively analyzed along with a critical appraisal of the literature on unbalanced ETV6 break-apart in SCs. RESULTS: The patients were four males and three females (31-70 years-old). Five presented with a painless neck mass and two patients with recurrent disease had a history of a previously diagnosed acinic cell carcinoma of the buccal mucosa. Histologically, there were varied combinations of microcystic, papillary, tubular, and solid patterns. All tumors were diffusely positive for S100 and/or SOX10, while 2 cases also showed luminal DOG1 staining. Rearrangement of the ETV6 locus was confirmed in 5/7 cases, of which 3 cases showed classic break-apart signals, 1 case further demonstrated duplication of the ETV6 5`end and the other loss of one copy of ETV6. Two cases harbored ETV6 deletion without rearrangement. Two of the 4 cases with atypical ETV6 FISH patterns represented recurrent tumors, one with widespread skeletal muscle involvement, bone and lymphovascular invasion. Surgical treatment resulted in gross-total resection in all 7 cases, with a median follow up of 9.5 months post-surgery for primary (n = 3) and recurrent disease (n = 1). CONCLUSION: Duplication of the distal/telomeric ETV6 probe represented the most common (26/40; 65%) variant ETV6 break-apart FISH pattern in salivary SC reported in the literature and appears indicative of an aggressive clinical course.
Asunto(s)
Proteína ETS de Variante de Translocación 6 , Proteínas Proto-Oncogénicas c-ets , Proteínas Represoras , Neoplasias de las Glándulas Salivales , Humanos , Masculino , Neoplasias de las Glándulas Salivales/genética , Neoplasias de las Glándulas Salivales/patología , Proteínas Proto-Oncogénicas c-ets/genética , Femenino , Adulto , Anciano , Persona de Mediana Edad , Proteínas Represoras/genética , Hibridación Fluorescente in Situ , Reordenamiento Génico , Carcinoma/genética , Carcinoma/patología , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/análisisRESUMEN
AIMS: Most salivary gland neoplasms are distinguished by specific recurrent gene fusions. Recently, a subset of pleomorphic adenomas (PAs) originated from the parotid gland harboring the HMGA2:WIF1 fusion was described with a canalicular adenoma-like morphology and a greater propensity for recurrence and carcinomatous transformation. METHODS AND RESULTS: This study delineates the clinicopathological attributes of 54 cases of PAs exhibiting HMGA2 alterations, predominantly characterized by the HMGA2:WIF1 fusion, alongside a comparative analysis of their morphological and immunohistochemical profiles. The cohort consisted of 23 females and 31 males (n = 54), mean age was 56.7 (25-84), tumors predominantly originated from the parotid gland (94.4%, 51/54), with 3 cases from seromucous glands (5.6%). Mean tumor size was 2.6 cm (0.8-7.5). No clinical difference (demographic, follow-up) was observed among histological subsets (conventional, hybrid, and pure). Complete excision was performed in all cases, with follow-up data available for 41% (22/54) of patients, showing 13.6% of recurrence (3/22) between 5 and 8 months. Various histological growth patterns were identified, with the pure hypercellular monomorphic subset being the most prevalent. The HMGA2:WIF1 gene was identified in all subsets without any particular predominance. Novel gene partners of HMGA2 were identified, comprising NRXN1, INPP4B, MSRB3, PHLDA1, and FLJ41278. CONCLUSIONS: The present study reports that the HMGA2:WIF1 gene fusion was present in all subsets of PAs without significant predominance. However, further investigations are warranted to explore the relationship between histological subsets of PAs and the molecular alterations underlying them.
Asunto(s)
Adenoma Pleomórfico , Biomarcadores de Tumor , Proteína HMGA2 , Inmunohistoquímica , Neoplasias de las Glándulas Salivales , Humanos , Proteína HMGA2/genética , Adenoma Pleomórfico/patología , Adenoma Pleomórfico/genética , Masculino , Femenino , Persona de Mediana Edad , Anciano , Adulto , Anciano de 80 o más Años , Biomarcadores de Tumor/genética , Biomarcadores de Tumor/análisis , Neoplasias de las Glándulas Salivales/patología , Neoplasias de las Glándulas Salivales/genética , Neoplasias de las Glándulas Salivales/química , Recurrencia Local de Neoplasia/patología , Recurrencia Local de Neoplasia/genética , Fusión GénicaRESUMEN
IMPORTANCE: Recurrent/metastatic adenoid cystic carcinoma (R/M AdCC) presents a clinical challenge with limited treatment options, particularly in the face of unsatisfactory efficacy from current therapeutic approaches. This review underscores the unmet clinical needs in managing R/M AdCC, emphasising the imperative for novel therapeutic strategies to address this critical gap. OBJECTIVE: The primary objective of this review is to comprehensively analyse and assess trials investigating therapeutic approaches for R/M AdCC. Emphasis is placed on endpoints such as tumour response rates and progression-free survival. The specific interventions, populations, and outcomes examined in these trials will be detailed to provide a focused and informative systematic review. EVIDENCE REVIEW: The systematic search spanned databases, including PubMed, EMBASE, and the Cochrane database of systematic reviews. Employing terms like "Carcinoma, Adenoid Cystic" and "trial," the search focused on English full-text articles from April 1, 2010, to August 9, 2023. Inclusion criteria encompassed studies with patients having R/M AdCC, involving drug interventions. Study quality was assessed using the Newcastle-Ottawa Scale for retrospective studies, Cochrane ROBINS-I tool for non-randomised trials, and the ROB-2 tool for randomised controlled trials. FINDINGS: A total of 46 trials involving 1244 patients are included in this review, encompassing a variety of therapeutic approaches for R/M AdCC. Targeted therapies, particularly Apatinib at 500 mg, exhibit efficacy with a 47.1% objective response rate (ORR). Conversely, immunotherapeutic agents demonstrate suboptimal performance, with an overall ORR ranging from 0 to 18%. While Apatinib shows promise, the review underscores the imperative for a thorough exploration of drugs targeting unique mechanisms in the immunologically cold nature of R/M AdCC. CONCLUSIONS AND RELEVANCE: Substantial progress in systemic therapy for R/M AdCC is evident, driven by early-phase clinical trials, particularly with promising outcomes in VEGF-2 inhibitors. However, challenges persist, notably in immunotherapy due to the cancer's immunologically cold nature. Ongoing research, prioritising early-stage trials, is crucial, emphasising exploration of emerging therapies like cell therapy and antibody-drug conjugates. Transitioning to Phase III trials is essential for more precise therapeutic insights. Collaborative efforts and a focus on personalised precision medicine are vital for overcoming challenges and advancing our understanding of treatment efficacy in this rare cancer.
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Carcinoma Adenoide Quístico , Recurrencia Local de Neoplasia , Neoplasias de las Glándulas Salivales , Humanos , Carcinoma Adenoide Quístico/tratamiento farmacológico , Carcinoma Adenoide Quístico/patología , Neoplasias de las Glándulas Salivales/tratamiento farmacológico , Neoplasias de las Glándulas Salivales/patología , Neoplasias de las Glándulas Salivales/terapia , Recurrencia Local de Neoplasia/tratamiento farmacológico , Metástasis de la Neoplasia , Piridinas/uso terapéuticoRESUMEN
A 56-year-old female was referred to our service for management of a malignant salivary gland neoplasm with compromised margins that had been biopsied previously at another service. The patient reported a twenty-year history of a lesion in the oral cavity with progressive and exuberant growth over the past two years, associated with local pain and dyspnea. Physical examination revealed an erythematous, ulcerated, and hemorrhagic lesion measuring approximately 3 cm on the left soft palate and tonsillar pillar. Computed tomography revealed an expansile lesion in the topography of the left soft palate, growing predominantly toward the lumen of the nasopharynx and partially invading the left wall of this region. The patient underwent surgery and histopathologic examination revealed an infiltrative and aggressive epithelial neoplasia with large vacuolated and eosinophilic cytoplasm, vesicular nuclei, and prominent nucleoli. The neoplastic cells were arranged in a solid, microcystic, tubular, and follicular pattern with eosinophilic luminal secretion. Mitotic figures were frequent and all margins were affected by the neoplasia. Morphologic and immunohistochemical features supported the diagnosis of secretory carcinoma, and the patient is currently being followed for further therapeutic intervention.
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Neoplasias de las Glándulas Salivales , Glándulas Salivales Menores , Humanos , Femenino , Persona de Mediana Edad , Neoplasias de las Glándulas Salivales/patología , Neoplasias de las Glándulas Salivales/diagnóstico , Glándulas Salivales Menores/patología , Carcinoma/patología , Tomografía Computarizada por Rayos XRESUMEN
Mucoepidermoid carcinoma arising from minor salivary glands at the base of the tongue is rare. Surgical excision of the tumours remains the primary treatment of choice. The prognosis of this tumour depends on optimum clearance of the disease surgically, clinical staging and histopathological grading. Postoperatively, radiotherapy depends on the grading and histopathological features of the tumour. Long-term follow-up is a must to detect early recurrences of oropharyngeal tumours. In our case, the tumour was removed by the transoral route because it was a limited tumour and for better postoperative functional outcomes. Concurrent chemoradiotherapy was advised to address the perineural invasion and residual tumour of the base of the tongue region.
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Carcinoma Mucoepidermoide , Neoplasias de la Lengua , Humanos , Neoplasias de la Lengua/patología , Neoplasias de la Lengua/diagnóstico , Neoplasias de la Lengua/terapia , Carcinoma Mucoepidermoide/patología , Carcinoma Mucoepidermoide/diagnóstico , Carcinoma Mucoepidermoide/cirugía , Masculino , Adolescente , Glándulas Salivales Menores/patología , Neoplasias de las Glándulas Salivales/patología , Neoplasias de las Glándulas Salivales/diagnóstico , Neoplasias de las Glándulas Salivales/terapia , FemeninoRESUMEN
Palisading adenocarcinoma is a morphologically distinct salivary gland neoplasm that has been recently described with predilection to the sublingual gland. We report our experience with this neoplasm to corroborate and enrich the literature and further clarify its phenotype.
Asunto(s)
Adenocarcinoma , Humanos , Adenocarcinoma/patología , Neoplasias de las Glándulas Salivales/patología , Masculino , Persona de Mediana Edad , Femenino , Anciano , Biomarcadores de Tumor/análisisRESUMEN
BACKGROUND: Canonical transient receptor potential channels play a crucial role in cancer cell proliferation. While TRPC6 subtype detection in submandibular glands and the relevance of some TRPC channels in this gland have been shown in animal models, its histological detection in human lacrimal and submandibular glands, as well as related tumors, lacks systematic study. Studying TRPC6 in humans could lead to new therapeutic options. This research aimed to immunohistochemically detect TRPC6 in human samples of physiological lacrimal and submandibular glands and of adenoid cystic carcinoma and mucoepidermoid carcinoma. METHODS: Seven fixed body donors and samples of six cancer patients were examined. The ten tissue samples collected from the submandibular and lacrimal glands were then processed into histological slides and stained with hematoxylin-eosin. Tumor samples were provided as sections. TRPC6 presence was determined by immunohistochemistry, which was performed by indirect detection with a primary TRPC6 antibody, a secondary HRP-conjugated antibody and the chromogen diaminobenzidine. RESULTS: Results confirm TRPC6 expression in all ten physiological gland samples: all samples showed a immunohistochemical signal with varying intensity. No significant gender-specific differences could be observed. TRPC6 was detected in four of six submandibular adenoid cystic carcinoma and the mucoepidermoid carcinoma samples, especially in tumor cells' cytoplasma and nuclei. Excretory ducts consistently showed TRPC6. Mucous tubules, their nuclei and the nuclei of adipocytes generally showed no signal while serous acini and their nuclei showed a weak TRPC6 signal. CONCLUSION: The discovery of TRPC6 in glandular tissue indicates a role in salivary gland function and calcium homeostasis is a basis for further research into its significance for tumor development in adenoid cystic carcinoma and mucoepidermoid carcinoma of salivary glands. TRPC6 could be used as a target for treatment of these tumors. However, the correlation between TRPC6 and submandibular and lacrimal gland diseases requires further exploration.
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Carcinoma Adenoide Quístico , Inmunohistoquímica , Aparato Lagrimal , Neoplasias de las Glándulas Salivales , Glándula Submandibular , Canal Catiónico TRPC6 , Humanos , Femenino , Masculino , Neoplasias de las Glándulas Salivales/patología , Neoplasias de las Glándulas Salivales/metabolismo , Persona de Mediana Edad , Aparato Lagrimal/patología , Aparato Lagrimal/metabolismo , Carcinoma Adenoide Quístico/patología , Carcinoma Adenoide Quístico/metabolismo , Canal Catiónico TRPC6/metabolismo , Glándula Submandibular/patología , Glándula Submandibular/metabolismo , Anciano , Adulto , Carcinoma Mucoepidermoide/patología , Carcinoma Mucoepidermoide/metabolismo , Biomarcadores de Tumor/metabolismo , Biomarcadores de Tumor/análisisRESUMEN
OBJECTIVE: Limited availability of authentic human adenoid cystic carcinoma (ACC) cell lines has hindered progress in understanding mechanisms underpinning the biology of this disease and the development of safe and effective therapies. STUDY DESIGN: Surgical human ACC specimens (UM-HACC-6, UM-HACC-14) were dissociated into single cell suspensions and cultured in fibronectin-coated flasks. Alternatively, tumor fragments were transplanted subcutaneously into female immunodeficient (SCID) mice to establish patient-derived xenograft tumors (PDX; UM-PDX-HACC-14). RESULTS: Both ACC cell lines showed continuous growth in monolayers for over 100 passages. Total RNA-Seq, RT-PCR, and FISH analysis revealed that both are MYB-NFIB fusion negative. Western blots revealed passage-dependent expression of E-Cadherin, PCNA, p63, phospho-c-MYB, and NFIB. Both, UM-HACC-14 and UM-HACC-6 cells exhibited tumorigenic potential when injected orthotopically into mouse submandibular glands. CONCLUSION: UM-HACC-14, patient-matching UM-PDX-HACC-14, and the UM-HACC-6 cell line are new, authenticated preclinical models of ACC that are well suited for mechanistic and developmental therapeutics studies.
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Carcinoma Adenoide Quístico , Ratones SCID , Neoplasias de las Glándulas Salivales , Carcinoma Adenoide Quístico/patología , Carcinoma Adenoide Quístico/metabolismo , Animales , Humanos , Neoplasias de las Glándulas Salivales/patología , Neoplasias de las Glándulas Salivales/metabolismo , Ratones , Femenino , Línea Celular Tumoral , Western Blotting , Xenoinjertos , Hibridación Fluorescente in SituRESUMEN
RATIONALE: Salivary duct carcinoma (SDC) is an aggressive form of cancer, with cutaneous metastasis being a rare occurrence. Furthermore, cutaneous metastasis of SDC secondary to a scald is even rarer, and to the best of our knowledge, our case represents the first such instance. Considering the involvement of the fingers in the metastatic site, which may affect limb function and quality of life, we present this case to explore the reason why scald could lead to distant recurrence and better treatment options. PATIENT CONCERNS: An 85-year-old man diagnosed with SDC in the parotid gland found enlarged masses at the fingertips as a consequence of a burn, 6 years after his initial treatment. DIAGNOSES: Cutaneous metastasis of SDC in the parotid gland and left thumb loss due to surgery. INTERVENTIONS: Radiotherapy was offered, targeting at the masses on the fingers, with dose at 15 Gy in 3 fractions, 12 Gy in 3 fractions, 15 Gy in 3 fractions for both hands and additional 21 Gy in 7 fractions only for left hand. OUTCOMES: The tumors shrank after 2 months of radiotherapy and the patient recovered well. Side effects included nail hyperplasia and paronychia. LESSONS: Connections between scald and distant metastasis of malignant tumors in this case needed further investigation. Considering reserving function of the fingers while dealing with metastasis, radiotherapy is recommended rather than surgery.
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Dedos , Neoplasias Cutáneas , Anciano de 80 o más Años , Humanos , Masculino , Carcinoma Ductal/secundario , Carcinoma Ductal/patología , Carcinoma Ductal/terapia , Dedos/patología , Neoplasias de la Parótida/patología , Conductos Salivales/patología , Neoplasias de las Glándulas Salivales/patología , Neoplasias Cutáneas/secundario , Neoplasias Cutáneas/patologíaRESUMEN
BACKGROUND: Neurotrophic tyrosine receptor kinase (NTRK) gene fusions are oncogenic drivers. Using the Auria Biobank in Finland, we aimed to identify and characterize patients with these gene fusions, and describe their clinical and tumor characteristics, treatments received, and outcomes. MATERIAL AND METHODS: We evaluated pediatrics with any solid tumor type and adults with colorectal cancer (CRC), non-small cell lung cancer (NSCLC), sarcoma, or salivary gland cancer. We determined tropomyosin receptor kinase (TRK) protein expression by pan-TRK immunohistochemistry (IHC) staining of tumor samples from the Auria Biobank, scored by a certified pathologist. NTRK gene fusion was confirmed by next generation sequencing (NGS). All 2,059 patients were followed-up starting 1 year before their cancer diagnosis. RESULTS: Frequency of NTRK gene fusion tumors was 3.1% (4/127) in pediatrics, 0.7% (8/1,151) for CRC, 0.3% (1/288) for NSCLC, 0.9% (1/114) for salivary gland cancer, and 0% (0/379) for sarcoma. Among pediatrics there was one case each of fibrosarcoma (TPM3::NTRK1), Ewing's sarcoma (LPPR1::NTRK2), primitive neuroectodermal tumor (DAB2IP::NTRK2), and papillary thyroid carcinoma (RAD51B::NTRK3). Among CRC patients, six harbored tumors with NTRK1 fusions (three fused with TPM3), one harbored a NTRK3::GABRG1 fusion, and the other a NTRK2::FXN/LPPR1 fusion. Microsatellite instability was higher in CRC patients with NTRK gene fusion tumors versus wild-type tumors (50.0% vs. 4.4%). Other detected fusions were SGCZ::NTRK3 (NSCLC) and ETV6::NTRK3 (salivary gland cancer). Four patients (three CRC, one NSCLC) received chemotherapy; one patient (with CRC) received radiotherapy. CONCLUSION: NTRK gene fusions are rare in adult CRC, NSCLC, salivary tumors, sarcoma, and pediatric solid tumors.
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Receptor trkA , Receptor trkC , Humanos , Finlandia/epidemiología , Masculino , Niño , Femenino , Adulto , Persona de Mediana Edad , Adolescente , Receptor trkA/genética , Preescolar , Adulto Joven , Receptor trkC/genética , Anciano , Bancos de Muestras Biológicas , Neoplasias Colorrectales/genética , Neoplasias Colorrectales/patología , Fusión Génica , Sarcoma/genética , Sarcoma/patología , Neoplasias de las Glándulas Salivales/genética , Neoplasias de las Glándulas Salivales/patología , Receptor trkB/genética , Carcinoma de Pulmón de Células no Pequeñas/genética , Carcinoma de Pulmón de Células no Pequeñas/patología , Lactante , Proteínas de Fusión Oncogénica/genética , Neoplasias/genética , Neoplasias/patología , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patología , Secuenciación de Nucleótidos de Alto Rendimiento , Glicoproteínas de MembranaRESUMEN
Objective: To analyze the risk factors affecting regional lymph node metastasis in salivary gland mucoepidermoid carcinoma (MEC) and to establish a nomogram model for individually predicting lymph node metastasis in salivary gland MEC. Methods: The clinical data of 2 152 patients with salivary gland MEC from 1975 to 2020 were collected from the Surveillance, Epidemiology, and End Results (SEER) database of the National Cancer Institute. The collected data were divided into training cohort (1 506 cases) and validation cohort (646 cases) according to the ratio of 7â¶3. Single-factor regression and multi-factor logistic regression were used to screen factors related to local lymph node metastasis in salivary gland MEC, with constructing of a nomogram. Calibration curve, receiver operating characteristic (ROC) curve, area under the ROC curve (AUC) and decision curve analysis were used to evaluate model performance in the validation cohort and the total cohort. Statistical tests were performed using SPSS (26.0) and R (4.3.0) software. Results: Multivariate logistic regression results showed that M stage [OR(95%CI):12.360(3.295-46.365), P=0.014], pathological grade â ¡ãâ ¢ãâ £[OR(95%CI): 1.956(1.329-2.879), 9.654(6.309-14.772), 9.298(6.072-14.238), P<0.001], T staging T2, T3, T4[OR(95%CI): 1.706(0.932-3.124), 3.021(1.790-5.096), 3.311(1.925-5.695), P<0.001], and gender [OR(95%CI):0.759(0.593-0.972), P=0.029] were independent factors affecting local lymph node metastasis in salivary gland MEC. Through verification in the validation cohort and the total cohort, the AUC values were greater than 0.8, and the calibration curve was close to the perfect reference line, proving that the constructed nomogram model had good specificity and sensitivity for predicting local lymph node metastasis in salivary gland MEC. Conclusion: M stage, pathological grade, T stage, and gender are risk factors for predicting regional lymph node metastasis and the established-nomogram has good predictive performance for local lymph node metastasis in salivary gland MEC.
Asunto(s)
Carcinoma Mucoepidermoide , Metástasis Linfática , Nomogramas , Neoplasias de las Glándulas Salivales , Humanos , Neoplasias de las Glándulas Salivales/patología , Carcinoma Mucoepidermoide/patología , Factores de Riesgo , Femenino , Masculino , Ganglios Linfáticos/patología , Modelos Logísticos , Curva ROC , Programa de VERF , Estadificación de Neoplasias , Persona de Mediana EdadAsunto(s)
Glándulas Salivales , Ultrasonografía , Humanos , Glándulas Salivales/diagnóstico por imagen , Enfermedades de las Glándulas Salivales/diagnóstico por imagen , Neoplasias de las Glándulas Salivales/diagnóstico por imagen , Neoplasias de las Glándulas Salivales/patología , Neoplasias de las Glándulas Salivales/cirugía , Sensibilidad y Especificidad , Diagnóstico Diferencial , Valores de Referencia , Aumento de la ImagenRESUMEN
Microsecretory adenocarcinoma (MSA) is a new type of salivary gland neoplasm identified in the 2022 World Health Organization Classification of Head and Neck Tumour (Skalova et al., Head Neck Pathol 16:40-53, 2022) and is characterized by a unique set of histomorphologic and immunohistochemical features and a recurrent MEF2C::SS18 fusion. MSA was initially misdiagnosed as another salivary gland tumour due to its similar morphology; until recently, only fewer than 50 cases were reported. We present a case of MSA of the hard palate with diverse architectural growth patterns, bland cytological features, abundant basophilic intraluminal secretions and fibromyxoid stroma. The tumour cells were positive for the SOX10, S100, and p63 protein and negative for the p40 protein according to immunohistochemistry. SS18 gene rearrangement was demonstrated via break-apart fluorescence in situ hybridization. We also provided a comprehensive literature review and integrated the clinicopathological features, immunophenotype, and molecular alterations of the disease. A comprehensive understanding of MSA enables us to accurately distinguish and categorize MSA from other salivary gland tumours with analogous morphologies.