Search Results (16)

A 51-year-old female presented to the emergency department with vertigo, visual disturbances, involuntary rapid repetitive eye movements, incoordination, and imbalance. Physical examination revealed opsoclonus, myoclonus, and bilateral limb and gait ataxia. Initial workup was negative for intracranial abnormalities, and no abnormalities were noted on blood work or cerebrospinal fluid analysis. Tumor markers were within normal limits. As part of her diagnostic workup, a positron emission tomography (PET) scan was performed, which showed a highly FDG-avid solitary 7 mm left axillary lymph node. Ultrasound-guided percutaneous biopsy revealed metastatic poorly differentiated carcinoma. Histopathological examination could not conclusively distinguish between adenocarcinoma and squamous cell carcinoma. She was diagnosed with seronegative opsoclonus-myoclonus ataxia syndrome of paraneoplastic origin from an occult primary malignancy and started on pulsatile corticosteroids and intravenous immunoglobulin (IVIG), with only moderate symptomatic improvement. Given the anatomic location and immunohistochemical staining pattern of the lymph node, the malignancy was considered as being of primary breast origin. A left axillary lymph node dissection was performed, with 1/12 nodes testing positive for poorly differentiated carcinoma. The patient experienced significant improvement in her neurological symptoms 2–3 days following resection of the solitary malignant lymph node, largely regaining her functional independence. She went on to receive adjuvant radiotherapy to the breast and axilla, as well as adjuvant hormonal therapy. Full article

Background/Objectives: Sentinel Lymph Node Biopsy (SLNB) aims at identifying clinically occult nodal metastases. It is the standard staging procedure for patients with T1b to T4 primary cutaneous melanoma. Moreover, it is recommended whenever the risk of a positive SLNB is >5%, according to the National Comprehensive Cancer Network Melanoma guidelines. When considering Non-Melanoma Skin Cancer (NMSC), the SLNB could play a role in tumors that mainly spreads via lymphatics, but strong evidence is missing. In this paper, the hot topics and controversies are reviewed; Methods: A PRISMA systematic review was carried out on the PubMed (MEDLINE) library from 2004–2024, searching for studies on SLNB in NMSC; Results: Seventy articles and 6379 patients undergoing SLNB for Squamous Cell Carcinoma (SCC), Merkel Cell Carcinoma (MCC), and Porocarcinoma were included. Overall, the SLNB positivity rate in these NMSCs was 24.4%, with an SNLB detection rate of 97.6%. Specifically, the SLNB positivity rate was 12.3% for high-risk cutaneous SCC, 24.4% for anogenital SCC, 29.3% for MCC, and 30.6% for Porocarcinoma. Most papers concluded that SLNB is safe, feasible, and significant in these malignancies; Conclusions: SLNB should be discussed and offered to every patient with MCC, and it should be discussed and considered in “high risk” SCC and Porocarcinoma for staging and prognostic purposes, aiming to identify a subgroup of patients who may benefit the most from early treatments. Full article

Melanoma is one of the most aggressive forms of skin cancer. While most melanomas have a discernible primary site, a small subset, approximately 3.2%, present as a metastatic disease without an identifiable primary origin, a condition known as melanoma of unknown primary (MUP). Unusual cases of primary melanoma have also been previously reported in the respiratory, gastrointestinal, and urogenital tracts. MUP typically is found in lymph nodes, subcutaneous sites, and visceral organs, with hypotheses about its origin including spontaneous primary tumor regression and ectopic melanocytes. MUP presents unique challenges in diagnosis and treatment due to the absence of a detectable primary tumor. Understanding its genetic and molecular features, epidemiology, prognostic factors, and treatment options is crucial for optimizing patient care and outcomes in this subset of melanoma patients. We conducted an extensive literature review triggered by a case report of a patient with suspected MUP. A 51-year-old woman was transferred from another hospital where an incision was performed for a suspected superinfected hematoma of the left thigh. Since the patient showed high leukocytosis and redness and swelling of the thigh, local debridement, drainage, and excisional biopsy of the tumor mass were performed in our unit in the emergency setting, and the tumor was taken for histopathology evaluation. Intraoperatively, the mass appeared nonspecific. The permanent histopathology report established a diagnosis of melanoma, with tumor proliferation also involving lymphoid tissue, and despite broad clinical and imagistic assessments, the primary melanoma could not be identified. Clinicians must be aware of the varied clinical manifestations of malignant melanoma, especially in cases of occult melanoma where the primary site is not evident. Full article

Background: Metastatic tumors of the oro-facial tissuesare rare, with an incidence ranging between 1% and 8% of all oral malignant tumors. Generally reported with a peak of incidence in the 5–7th decades but possibly occurring at any age, metastases may represent the first sign of an occult cancer or manifest in patients with an already known history of a primary carcinoma, mostly from the lungs, kidney, prostate, and colon/rectum in males, and the uterus, breast, lung, and ovary in females. In the oro-facial tissues, the most involved sites are the oral mucosa, gingiva/jawbones, tongue, and salivary glands. Methods: A broad and deep literature review with a comprehensive analysis of the existing research on oro-facial metastases from renal-cell carcinoma (RCC) was conducted by searching the most used databases, with attention also paid to the clear-cell histological variant, which is the most frequent one. Results: Among the 156 analyzed studies, 206 cases of oro-facial metastases of renal cancer were found in patients with an average age of 60.9 years (145 males, 70.3%; 61 females, 29.6%). In almost 40% of the cases, metastasis represented the first clinical manifestation of the primary tumor, and 122 were histologically diagnosed as clear-cell renal-cell carcinoma (ccRCC) (59.2%). The tongue was involved in most of the cases (55 cases, 26.7%), followed by the gingiva (39 cases, 18.9%), mandible (35 cases, 16.9%), maxilla (23 cases, 11.1%), parotid gland (22 cases, 10.6%), buccal mucosa (11 cases, 5.3%), lips (7 cases, 3.3%), hard palate (6 cases, 2.8%), soft palate, masticatory space, and submandibular gland (2 cases, 0.9%), and lymph nodes, tonsils, and floor of the mouth (1 case, 0.4%). Among the 122 ccRCCs (84 males, 68.8%; 38 females, 31.1%), with an average age of 60.8 years and representing in 33.6% the first clinical manifestation, the tongue remained the most frequent site (31 cases, 25.4%), followed by the gingiva (21 cases, 17.2%), parotid gland (16 cases, 13.1%), mandibular bone (15 cases, 12.2%), maxillary bone (14 cases, 11.4%), buccal mucosa and lips (6 cases, 4.9%), hard palate (5 cases, 4%), submandibular gland and soft palate (2 cases, 1.6%), and lymph nodes, tonsils, oral floor, and masticatory space (1 case, 0.8%). The clinical presentation in soft tissues was mainly represented by a fast-growing exophytic mass, sometimes accompanied by pain, while in bone, it generally presented as radiolucent lesions with ill-defined borders and cortical erosion. Conclusions: The current comprehensive review collected data from the literature about the incidence, site of occurrence, age, sex, and survival of patients affected by oro-facial metastases from renal-cell carcinoma, with particular attention paid to the cases diagnosed as metastases from clear-cell renal-cell carcinoma, which is the most frequent histological variant. Clinical differential diagnosis is widely discussed to provide clinicians with all the useful information for an early diagnosis despite the effective difficulties in recognizing such rare and easily misdiagnosed lesionsTheir early identification represents a diagnostic challenge, especially when the clinical work-up is limited to the cervico–facial region. Nevertheless, early diagnosis and recently introduced adjuvant therapies may represent the key to better outcomes in such patients. Therefore, general guidelines about the clinical and radiological identification of oro-facial potentially malignant lesions should be part of the cultural background of any dentist. Full article

Background: Myocardial infarction is currently the leading cause of death worldwide, followed by malignant neoplasms. The presence of both within the same patient obviously increases the risk of death, as many coronary events are detected in patients diagnosed with cancer. Diagnosis of an occult digestive cancer in the acute phase of myocardial infarction is most frequently prompted by a hemorrhagic complication. Case summary: This case features an 81-year-old male patient diagnosed with acute myocardial infarction, treated with primary percutaneous intervention (PCI), who developed post-stenting hemorrhagic complications in the first 24 h due to the presence of two different concomitant malignant neoplasms. The outcome was favorable in the acute phase, even if de-escalation therapy was given immediately post-stenting, and intrastent residual thrombotic risk was high. Conclusions: The presence of bleeding complications in patients with acute myocardial infarction should mobilize resources in search of a neoplastic cause, especially a digestive one. However, other locations should be looked for, depending on the source of bleeding. Full article

Background: Despite its rarity and limited documentation, therapeutic neck dissection (ND) for cervical lymph node (LN) metastases from distant primary sites is increasingly practiced, potentially enhancing survival rates. However, the optimal ND extent remains unclear. This study aimed to determine the safety of excluding upper neck levels from ND. Methods: We retrospectively analyzed 25 patients who underwent ND for cervical LN metastases from remote primary tumors between 2015 and 2021 (12 with primary lung tumors, four with ovary, three with mammary gland, three with esophagus, two with thymus, and one with colon). Results: Assessing clinical characteristics and occult metastasis rates, we observed LN metastases predominantly at levels III and IV. Occult metastases occurred in 14 out of 25 patients, primarily at neck levels III and IV (55.0% and 50.0%, respectively). The five-year disease-specific survival rate for all patients was 44.3%. While no statistically significant impact of occult metastasis on prognosis was confirmed, an association between the postoperative LN ratio and poor prognosis was revealed. Conclusions: Our findings suggest that prophylactic NDs at levels I, II, and Va may not be essential for managing cervical LN metastases from remote primary malignancies. This could lead to a more tailored and less invasive therapeutic strategy. Full article

Background: Occult breast cancer (OBC) is an uncommon malignant tumor and the prognosis and treatment of OBC remain controversial. Currently, there exists no accurate prognostic clinical model for OBC, and the treatment outcomes of chemotherapy and surgery in its different molecular subtypes are still unknown. Methods: The SEER database provided the data used for this study’s analysis (2010–2019). To identify the prognostic variables for patients with ODC, we conducted Cox regression analysis and constructed prognostic models using six machine learning algorithms to predict overall survival (OS) of OBC patients. A series of validation methods, including calibration curve and area under the curve (AUC value) of receiver operating characteristic curve (ROC) were employed to validate the accuracy and reliability of the logistic regression (LR) models. The effectiveness of clinical application of the predictive models was validated using decision curve analysis (DCA). We also investigated the role of chemotherapy and surgery in OBC patients with different molecular subtypes, with the help of K-M survival analysis as well as propensity score matching, and these results were further validated by subgroup Cox analysis. Results: The LR models performed best, with high precision and applicability, and they were proved to predict the OS of OBC patients in the most accurate manner (test set: 1-year AUC = 0.851, 3-year AUC = 0.790 and 5-year survival AUC = 0.824). Interestingly, we found that the N1 and N2 stage OBC patients had more favorable prognosis than N0 stage patients, but the N3 stage was similar to the N0 stage (OS: N0 vs. N1, HR = 0.6602, 95%CI 0.4568–0.9542, p < 0.05; N0 vs. N2, HR = 0.4716, 95%CI 0.2351–0.9464, p < 0.05; N0 vs. N3, HR = 0.96, 95%CI 0.6176–1.5844, p = 0.96). Patients aged >80 and distant metastases were also independent prognostic factors for OBC. In terms of treatment, our multivariate Cox regression analysis discovered that surgery and radiotherapy were both independent protective variables for OBC patients, but chemotherapy was not. We also found that chemotherapy significantly improved both OS and breast cancer-specific survival (BCSS) only in the HR−/HER2+ molecular subtype (OS: HR = 0.15, 95%CI 0.037–0.57, p < 0.01; BCSS: HR = 0.027, 95%CI 0.027–0.81, p < 0.05). However, surgery could help only the HR−/HER2+ and HR+/HER2− subtypes improve prognosis. Conclusions: We analyzed the clinical features and prognostic factors of OBC patients; meanwhile, machine learning prognostic models with high precision and applicability were constructed to predict their overall survival. The treatment results in different molecular subtypes suggested that primary surgery might improve the survival of HR+/HER2− and HR−/HER2+ subtypes, however, only the HR−/HER2+ subtype could benefit from chemotherapy. The necessity of surgery and chemotherapy needs to be carefully considered for OBC patients with other subtypes. Full article

18F-fluorodeoxyglucose (FDG) is a glucose analog that acts as a marker for glucose uptake and metabolism. FDG PET scans are used in monitoring pediatric cancers. The handheld PET probe localization of FDG-avid lesions is an emerging modality for radio-guided surgery (RGS). We sought to assess the utility of PET probe in localizing occult FDG-avid tumors in pediatric patients. PET probe functionality was evaluated by using a PET/CT scan calibration phantom. The PET probe was able to detect FDG photon emission from simulated tumors with an expected decay of the radioisotope over time. Specificity for simulated tumor detection was lower in a model that included background FDG. In a clinical model, eight pediatric patients with FDG-avid primary, recurrent or metastatic cancer underwent a tumor excision, utilizing IV FDG and PET probe survey. Adequate tissue for diagnosis was present in 16 of 17 resected specimens, and pathology was positive for malignancy in 12 of the 17 FDG-avid lesions. PET probe gamma counts per second were higher in tumors compared with adjacent benign tissue in all operations. The median ex vivo tumor-to-background ratio (TBR) was 4.0 (range 0.9–12). The PET probe confirmed the excision of occult FDG-avid tumors in eight pediatric patients. Full article

Introduction: F18-FDG PET/CT is the most important hybrid imaging used in the diagnostic, staging, follow-up, and treatment evaluation response in cancer patients. However, it is well-known that in breast cancer the use of F18-FDG is not included in the first line protocol of initial diagnostic, both in female and male breast cancer patients. F18-FDG PET/CT is a valuable tool to provide information on extra-axillary lymph node involvement, distant metastases, and other occult primary cancers. This study assesses F18-FDG PET/CT systemic staging in male patients with diagnosed breast cancer and determines detection rates for unsuspected distant metastases and synchronous malignancies. Methods: We analyzed a number of 170 male patients with breast cancer, seen between 2000–2020, in a tertiary center. From this group, between 2013–2020 a number of 23 patients underwent F18-FDG PET/CT. Rates of upstaging were determined for each case and the detection of other primary malignancies was analyzed. Results: Median age of male breast cancer group was 61.3 y (range, 34–85 y), most had intraductal carcinoma (82.4%) and unsuspected distant metastases, which increased patient stage to IV, observed in 27%. In 4 out 23 patients (17.4%), F18-FDG PET/CT identified synchronous cancers (2 prostate cancers, 1 thyroid and 1 colon cancer). Conclusion: F18-FDG PET/CT is a valuable tool to provide information on extra-axillary lymph node involvement, distant metastases, and other occult primary cancers. Baseline F18-FDG PET/CT has a substantial impact on the initial staging and on clinical management in male breast patients and should be considered for use in newly diagnosed patients. Full article

To evaluate diagnostic accuracy of qualitative analysis and interobserver agreement of single ultrafast-DCE, DWI or ¹⁸F-FDG-PET and the combination of modalities for the detection of unknown primary tumor (UPT) in patients presenting with cervical lymph node metastasis from squamous cell carcinoma (SCC). Between 2014–2019, patients with histologically proven cervical lymph node metastasis of UPT SCC were prospectively included and underwent DWI, ultrafast-DCE, and ¹⁸F-FDG-PET/CT. Qualitative assessment was performed by two observers per modality. Interobserver agreement was calculated using the proportion specific agreement. Diagnostic accuracy of combined use of DWI, ultrafast-DCE and ¹⁸F-FDG-PET/CT was assessed. Twenty-nine patients were included (20 males. [68%], median age 60 years). Nine (31%) primary tumors remained occult. Ultrafast-DCE added reader confidence for suspicious locations (one additional true positive (5%), 2 decisive true malignant (10%). The per-location analysis showed highest specific positive agreement for ultrafast-DCE (77.6%). The per-location rating showed highest sensitivity (95%, 95%CI = 75.1–99.9, YI = 0.814) when either one of all modalities was scored positive, and 97.4% (95%CI = 93.5–99.3, YI = 0.774) specificity when co-detected on all. The per-patient analysis showed highest sensitivity (100%) for ¹⁸F-FDG-PET/CT (YI = 0.222) and either DWI or PET (YI = 0.111). Despite highest trends, no significant differences were found. The per-patient analysis showed highest specific positive agreement when co-detected on all modalities (55.6%, 95%CI = 21.2–86.3, YI = 0.456). Ultrafast-DCE showed potential to improve detection of unknown primary tumors in addition to DWI and ¹⁸F-FDG-PET/CT in patients with cervical squamous cell carcinoma lymph node metastasis. The combined use of ultrafast-DCE, DWI and ¹⁸F-FDG-PET/CT yielded highest sensitivity. Full article

Background: Non-melanoma skin cancers (NMSC), despite having a favourable prognosis, present an increased risk of occult malignancies. The aim of this study was the evaluation of the usefulness of the mucinous marker carbohydrate 19-9 antigen (CA 19-9) in the diagnosis of occult cancers. (1) Patients and Methods: This is a case control study in which 480 patients with NMSC and 480 matched control subjects with dermatitis were enrolled; 208 patients with NMSC showed upper-normal CA 19-9 values, and 272 showed under-normal CA 19-9 values. (2) Results: The 208 patients positive for CA 19-9 included 87 with basal cell carcinoma (BCC) and 121 with squamous cell carcinoma (SCC). The 272 patients negative for CA 19-9 included 107 with BCC and 165 with SCC. For the SCC patients, CA 19-9 serum levels were significant in 121 of the patients (positive), 66 of which were affected by cancer; CA 19-9 was within the normal range in 165 patients, of which 30 were diagnosed with cancer. In the SCC patients, the CA 19-9 sensitivity was 68%, the specificity was 70%, the positive predictive value (PPV) was 54% (95%) and the negative predictive value (NPV) was 81%. In the BCC patients, the CA 19-9 sensitivity was 70%, the specificity was 66%, the PPV was 48% and the NPV was 83%. In the dermatitis patients (controls), we observed 121 patients that were CA 19-9 positive, with 15 malignancies, and 359 CA 19-9-negative patients, with three malignancies. (3) Conclusions: To confirm the association between CA 19-9 and an elevated risk of malignancies in NMSC, prospective cohort studies should be performed. Full article

Merkel Cell Carcinoma (MCC) is a rare but highly aggressive neuroendocrine neoplasm of the skin. This study aimed at describing characteristics, treatment, and prognosis of a series of consecutive cases of MCC patients, in order to contribute to the investigation of this rare malignancy and provide better patient care. This is a retrospective cohort study including all 90 patients diagnosed and/or treated for MCC between 1991 and 2018 at the Veneto Institute of Oncology in Padua (Italy). Patient and tumor characteristics, treatment, and immunohistochemical data were extracted from a prospectively collected local database. There were 68 primary (76%) and 22 non-primary (15 occult primary, three metastatic, four recurrence) tumors (24%). CK20 expression was associated with reduced overall (HR 2.92, 95% CI 1.04–8.16) and disease-specific (HR 4.62, 95% CI 1.31–16.28) survival. Immunomodulatory regimens for treatment of other comorbidities were associated with reduced disease-specific ((HR 2.15, 95% CI 1.06–4.36) and recurrence-free (HR 3.08, 95% CI 1.44–6.57) survival. Iatrogenic immunomodulation resulted as the main factor associated with impaired prognosis. Lack of CK20 expression was associated with better survival. Full article

Background and aim: Cutaneous squamous cell carcinoma (CSCC) is a malignant epithelial cell tumor. CSCC has a tendency to spread via lymphogenic pathway. Metastases are found in 2%–6% of cases. Prognosis of patients with CSCC is directly related to the morphology and localization of primary tumor.
The aim of this study was to evaluate the recurrence-free survival of patients with CSCC after tumor excision and SLNB as well as to analyze morphologic CSCC features related to patient recurrence-free survival.
Materials and materials: A retrospective analysis of 51 patients with CSCC, who underwent surgical treatment between January 1, 2012, and December 31, 2014, in the Clinic of Plastic and Reconstructive Surgery, Hospital of the Lithuanian University of Health Sciences, was done. The diagnosis of CSCC was verified on a histological examination, and all patients had no clinical evidence of nodal or distant metastases on a physical examination or imaging studies. Sentinel lymph node biopsy (SLNB) was performed for low- and high-risk CSCC patients.
Results: A total of 51 patients were enrolled into the study (34 women and 17 men). Total of 68 lymph nodes were removed during sentinel lymph node biopsy. No micrometastases were identified. Until April 1, 2015, no relapse event was documented. The mean time after operation was 27.5 months. During the follow-up period, no distant metastases were identified.
Conclusions: No patient who had no micrometastases in sentinel lymph nodes developed local and distant CSCC metastases during the follow-up period. Our report supports the concept that SLNB can be applied for CSCC. It is obvious that larger prospective studies with longer follow-up period are needed to establish the efficacy of SLNB and define the optimal treatment of occult nodal metastasis for CSCC. Full article

The objective of this article is to present the first case reported in the literature of metachronous pleomorphic adenoma of bilateral parotid glands and submaxillary gland. The authors report the case of a 27-year-old female with metachronous mixed tumors in her right parotid and submandibular glands. The patient has no history of previous radiotherapy. All three lesions were diagnosed by fine-needle aspiration. The histopathologic evaluation of all three major salivary gland masses demonstrated pleomorphic adenomas, with no occult malignancy observed on serial sections. The presentation of pleomorphic adenomas in the parotids and submandibular glands probably represents three unrelated primary sites of tumor, yet the possibility of metastasis from one gland to the other cannot be excluded. Full article

Umbilical metastasis is one of the main characteristic signs of extensive neoplastic disease and is universally referred to as Sister Mary Joseph’s nodule. It indicates neoplasm of inner organs mostly located in the gastrointestinal tract or the pelvis. However, in approximately 15–30% the primary tumor remains occult. In most cases, Sister Mary Joseph’s nodule appears as an early and sometimes the only symptom of the malignancy. Here we report a rare fine needle aspiration (FNA) cytologic diagnosis of umbilical metastasis of an ovarian carcinoma. Full article