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1.
Dermatol Online J ; 30(2)2024 Apr 15.
Article in English | MEDLINE | ID: mdl-38959920

ABSTRACT

Acrokeratosis paraneoplastica (Basex syndrome) is a rare paraneoplastic condition hallmarked by psoriasiform lesion development on acral surfaces, most often related to an underlying squamous cell carcinoma. Patients may also present with nail plate changes. Successful management of this condition can be accomplished by treating the underlying malignancy.


Subject(s)
Carcinoma, Squamous Cell , Lung Neoplasms , Nail Diseases , Paraneoplastic Syndromes , Skin Neoplasms , Humans , Carcinoma, Squamous Cell/diagnosis , Carcinoma, Squamous Cell/complications , Carcinoma, Squamous Cell/pathology , Paraneoplastic Syndromes/diagnosis , Paraneoplastic Syndromes/pathology , Lung Neoplasms/complications , Lung Neoplasms/diagnosis , Lung Neoplasms/pathology , Skin Neoplasms/pathology , Skin Neoplasms/diagnosis , Skin Neoplasms/complications , Nail Diseases/pathology , Nail Diseases/diagnosis , Nail Diseases/etiology , Male , Aged , Middle Aged , Carcinoma, Basal Cell , Hypotrichosis
2.
BMC Nephrol ; 25(1): 215, 2024 Jul 04.
Article in English | MEDLINE | ID: mdl-38965515

ABSTRACT

BACKGROUND: Nephrotic syndrome (NS) can occur as a paraneoplastic disorder in association with various types of carcinoma. However, paraneoplastic nephrotic syndrome (PNS) is often misdiagnosed as idiopathic nephrotic syndrome or as an adverse effect of oncology treatment, leading to delayed diagnosis and suboptimal treatment. The characteristics of NS associated with solid malignancies are not yet elucidated. We systematically summarized the clinical data for 128 cases of NS combined with solid malignancies with the aim of informing the clinical management of PNS. METHODS: We searched the PubMed database for articles published from the date of inception through to October 2023 using the following keywords: "cancer" or "malignant neoplasms" or "neoplasia" or "tumors" and "nephrotic syndrome", "nephrotic" or "syndrome, nephrotic". All data were extracted from case reports and case series, and the extraction included a method for identifying individual-level patient data. RESULTS: A literature search yielded 105 cases of PNS and 23 of NS induced by cancer therapy. The median age at diagnosis was 60 years, with a male to female ratio of 1.8:1. In patients with PNS, manifestations of NS occurred before, concomitantly with, or after diagnosis of the tumor (in 36%, 30%, and 34% of cases, respectively). Membranous nephropathy (49%) was the most prevalent renal pathology and found particularly in patients with lung, colorectal, or breast carcinoma. Regardless of whether treatment was for cancer alone or in combination with NS, the likelihood of remission was high. CONCLUSION: The pathological type of NS may be associated with specific malignancies in patients with PNS. Prompt identification of PNS coupled with suitable therapeutic intervention has a significant impact on the outcome for patients.


Subject(s)
Neoplasms , Nephrotic Syndrome , Paraneoplastic Syndromes , Humans , Nephrotic Syndrome/complications , Nephrotic Syndrome/etiology , Neoplasms/complications , Glomerulonephritis, Membranous/complications
3.
Rev Fac Cien Med Univ Nac Cordoba ; 81(2): 403-414, 2024 06 28.
Article in Spanish | MEDLINE | ID: mdl-38941219

ABSTRACT

In solid tumors, hypereosinophilia is a rare phenomenon and is mainly associated with mucin-secreting carcinomas. Thyroid tumors associated with neutrophilia and/or eosinophilia have been described exclusively in patients with anaplastic thyroid cancer. Eosinophilia associated with papillary thyroid cancer is extremely rare and there are very few cases currently described. It has been suggested that three cytokines, namely interleukin-3 (IL-3), interleukin-5 (IL-5), and granulocyte-macrophage colony-stimulating factor (GM-CSF), may act as a peptide potential eosinophilic. To date, only three patients with differentiated thyroid cancer associated with eosinophilia have been reported, two of the papillary type and one of the medullary type. A 48-year-old patient consulted in 2022 due to bilateral cervical lymphadenopathy of 3 years' duration associated with wasting syndrome and hypereosinophilia. PET CT was requested, which showed hypermetabolic focus in the right thyroid lobe and lymph node, lung, bone, and liver metastases; Thyroid ultrasound showing a nodule of high suspicion of malignancy and a conglomerate of lymphadenopathy in the right lobe with positive needle wash for thyroglobulin. Hypereosinophilia was evaluated with initial leukocytosis values of GB 30,310/mm3 (10,608/mm3 of eosinophils) to maximum values of GB 77,090/mm3 (eosinophils 20,814/mm3). It was interpreted as paraneoplastic syndrome and corticosteroid therapy was started at immunosuppressive doses without response. Our observations presented in this article are in line with most studies reflecting that paraneoplastic hypereosinophilia is characterized by more advanced disease and poor prognosis.


En los tumores sólidos la hipereosinofilia es un fenómeno raro y se asocia principalmente con carcinomas secretores de mucina. Los tumores tiroideos asociados a neutrofilia y/o eosinofilia se han descrito exclusivamente en pacientes con cáncer anaplásico de tiroides. La eosinofilia asociada con cáncer papilar de tiroides es extremadamente rara y se encuentran muy pocos casos descriptos actualmente. Se ha sugerido que tres citocinas, a saber, la interleucina-3 (IL-3), la interleucina-5 (IL-5) y el factor estimulante de colonias de granulocitos y macrófagos (GM-CSF), pueden actuar como un péptido eosinofílico potencial. Hasta el momento solo se han reportado tres pacientes con cáncer diferenciado de tiroides asociados a eosinofilia, dos de tipo papilar y uno de tipo medular. Paciente de 48 años consultó en el año 2022 por adenopatías cervicales bilaterales de 3 años de evolución asociado a síndrome consuntivo e hipereosinofilia. Se solicitó PET CT que evidenció foco hipermetabólico en lóbulo tiroideo derecho y metástasis ganglionares, pulmonares, óseas y hepáticas; ecografía tiroidea que evidencia en lóbulo derecho nódulo de alta sospecha de malignidad y conglomerado de adenopatías con lavado de aguja positivo para tiroglobulina. Evaluada la hipereosinofilia con valores iniciales de leucocitosis de GB 30310/mm3 (10608/mm3 de eosinófilos) hasta valores máximos de GB 77090/mm3 (eosinófilos 20814/mm3) se interpretó como síndrome paraneoplásico y se inició corticoterapia en dosis inmunosupresoras sin respuesta. Nuestras observaciones presentadas en este artículo están en línea con la mayoría de los estudios que reflejan que la hipereosinofilia paraneoplásica se caracteriza por una enfermedad más avanzada y un mal pronóstico.


Subject(s)
Paraneoplastic Syndromes , Thyroid Neoplasms , Humans , Middle Aged , Thyroid Neoplasms/complications , Thyroid Neoplasms/pathology , Paraneoplastic Syndromes/etiology , Hypereosinophilic Syndrome/complications , Male , Female , Carcinoma, Papillary/complications , Eosinophilia/complications
4.
Medwave ; 24(5): e2914, 2024 Jun 19.
Article in English, Spanish | MEDLINE | ID: mdl-38896878

ABSTRACT

Multicentric reticulohistiocytosis is a rare non-Langerhans cell histiocytosis of unknown etiology. It is classified as multicentric because of multisystem involvement. The disease predominantly affects the skin and joints, but visceral involvement is possible. Multiple erythematous-brownish, pruritic nodules and papules on the face, hands, neck, and trunk are characteristic. It is associated with autoimmune diseases, or malignant neoplasms are seen in 20% to 30% of patients with multicentric reticulohistiocytosis. The diagnosis is based on histopathology of affected tissues. As it is an underreported disease, there is no standardized treatment. A case of multicentric reticulohistiocytosis is reported as a paraneoplastic manifestation of ductal breast cancer, being successfully treated with no recurrence after two years of follow-up. Few cases of multicentric reticulohistiocytosis associated with breast cancer have been reported in the literature.


La reticulohistiocitosis multicéntrica es una enfermedad inflamatoria, una histiocitosis de células no Langerhans, poco frecuente y de etiología desconocida. Se clasifica como multicéntrica al presentar compromiso multisistémico. La enfermedad afecta predominantemente a la piel y las articulaciones, pero es posible la afectación visceral. Las manifestaciones cutáneas se caracterizan por múltiples nódulos y pápulas de color eritemato-marronáceas, pruriginosas en la cara, manos, cuello y tronco. Se asocia a enfermedades autoinmunes y neoplasias malignas, observándose entre el 20 y el 30% de los pacientes con reticulohistiocitosis multicéntrica. Su diagnóstico se realiza sobre la base de la histopatología de tejidos afectados. Al ser una enfermedad poco reportada, no existe tratamiento estandarizado. Se reporta un caso de reticulohistiocitosis multicéntrica como manifestación paraneoplásica a un cáncer ductal de mama, siendo tratadas con éxito, sin recidivas luego de dos años de seguimiento. Pocos casos se han reportado en la literatura de reticulohistiocitosis multicéntrica asociado a cáncer mamario.


Subject(s)
Breast Neoplasms , Dermoscopy , Histiocytosis, Non-Langerhans-Cell , Humans , Female , Breast Neoplasms/pathology , Breast Neoplasms/diagnosis , Histiocytosis, Non-Langerhans-Cell/pathology , Histiocytosis, Non-Langerhans-Cell/diagnosis , Dermoscopy/methods , Follow-Up Studies , Middle Aged , Paraneoplastic Syndromes/pathology , Paraneoplastic Syndromes/diagnosis , Carcinoma, Intraductal, Noninfiltrating/pathology , Carcinoma, Intraductal, Noninfiltrating/diagnosis
5.
BMJ Case Rep ; 17(6)2024 Jun 05.
Article in English | MEDLINE | ID: mdl-38839409

ABSTRACT

Paraneoplastic pemphigus (PNP) is a rare disease with an unclear mechanism of pathogenesis. We present a case of a male patient who presented with wound management after being diagnosed with Castleman disease-associated paraneoplastic pemphigus (PNP). The patient's condition was not improving; as a result, extensive workup was repeated, which confirmed the diagnosis of aggressive T cell lymphoblastic lymphoma. Our case signifies the importance of keeping a high index of suspicion for PNP-associated malignancies. This case report also adds emphasis to the diagnostic challenges faced by clinicians, making clinical correlation with multidisciplinary approach essential. Therefore, if clinically indicated, we need to revisit the diagnosis and seek alternative explanations to prevent delays in management.


Subject(s)
Paraneoplastic Syndromes , Pemphigus , Humans , Pemphigus/diagnosis , Pemphigus/etiology , Male , Paraneoplastic Syndromes/diagnosis , Castleman Disease/complications , Castleman Disease/diagnosis , Diagnosis, Differential , Middle Aged
6.
Front Endocrinol (Lausanne) ; 15: 1400751, 2024.
Article in English | MEDLINE | ID: mdl-38887276

ABSTRACT

Introduction: This study explores tumor-induced osteomalacia (TIO) through a case series and literature review, assessing the diagnostic potential of 18F-AlF-NOTA-octreotide (18F-OC) positron emission tomography/computed tomography (PET/CT). Methods: We analyzed TIO patients who underwent 18F-OC PET/CT. Parameters such as tumor dimension, the maximum standardized uptake value (SUVmax), the mean standardized uptake value (SUVmean) and metabolic tumor volume (MTV) were meticulously assessed. Clinical features and imaging characteristics pertinent to TIO were reviewed. Results: 6 patients with clinical suspicion of TIO exhibited hypophosphatemia (0.25 to 0.64 mmol/L), elevated alkaline phosphatase (ALP) levels (142 to 506 U/L), and increased parathyroid hormone (PTH) levels (92.9 to 281.7 pg/mL). Of these patients, two underwent FGF-23 testing, with results of 3185.00 pg/ml and 17.56 pg/ml, respectively. Conventional imaging modalities depicted widespread osteoporosis, with several cases demonstrating fractures indicative of osteomalacic and associated pathological fractures. Subsequent 18F-OC PET/CT facilitated the accurate localization of causative tumors, with histopathological examination confirming the diagnosis of phosphaturic mesenchymal tumor (PMT). The interval from initial clinical presentation to definitive TIO diagnosis spanned approximately 2.5 years (range: 1 - 4 years), with tumors varying in size (maximum diameter: 7.8 to 40.0 mm), SUVmax (5.47 to 25.69), SUVmean (3.43 to 7.26), and MTV (1.27 to 18.59 cm3). Conclusion: The implementation of whole-body 18F-OC PET/CT imaging emerges as a critical tool in the identification of occult tumors causing TIO. Future investigations incorporating a broader cohort are imperative to further delineate the diagnostic and therapeutic implications of 18F-OC PET/CT in managing TIO.


Subject(s)
Osteomalacia , Positron Emission Tomography Computed Tomography , Humans , Fibroblast Growth Factor-23 , Fluorine Radioisotopes , Heterocyclic Compounds , Heterocyclic Compounds, 1-Ring , Neoplasms, Connective Tissue/diagnostic imaging , Octreotide/analogs & derivatives , Osteomalacia/diagnostic imaging , Osteomalacia/etiology , Paraneoplastic Syndromes/diagnostic imaging , Positron Emission Tomography Computed Tomography/methods , Radiopharmaceuticals
7.
BMJ Case Rep ; 17(5)2024 May 02.
Article in English | MEDLINE | ID: mdl-38697682

ABSTRACT

Tumour-induced osteomalacia is caused by tumorous production of fibroblast growth factor 23 (FGF23) leading to urinary phosphate wasting, hypophosphataemia and decreased vitamin D activation. The resulting osteomalacia presents with muscle weakness and bone pain but progresses to multiple pathological fractures. Patients often remain undiagnosed for years with severe physical, psychological and economic ramifications. A young woman presented with multiple spontaneous fractures including bilateral femoral fractures. Laboratory tests revealed severe hypophosphataemia, elevated bone turnover markers and low to normal calcium and 25-hydroxy-vitamin D levels. Treatment with phosphate, alfalcalcidol, calcium and magnesium was initiated. 68Gallium-DOTATOC positron emission tomography imaging revealed a mass in the right foot and venous sampling of FGF23 from all extremities confirmed this tumour as the culprit. Biopsy and histology were consistent with a phosphaturic mesenchymal tumour, which was surgically resected. Phosphate levels quickly normalised postoperatively but a long convalescence with hungry bone syndrome, fracture healing and physical therapy followed.


Subject(s)
Fibroblast Growth Factor-23 , Neoplasms, Connective Tissue , Osteomalacia , Humans , Osteomalacia/etiology , Female , Neoplasms, Connective Tissue/diagnosis , Neoplasms, Connective Tissue/surgery , Adult , Paraneoplastic Syndromes/diagnosis , Hypophosphatemia/etiology , Fibroblast Growth Factors/blood , Femoral Fractures/surgery , Femoral Fractures/diagnostic imaging , Fractures, Spontaneous/etiology , Fractures, Spontaneous/surgery , Fractures, Spontaneous/diagnostic imaging , Phosphates/blood
8.
Ann Hematol ; 103(7): 2545-2549, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38780802

ABSTRACT

Bullous pemphigoid (BP) is a rare blistering disease often considered a primary sign of a paraneoplastic syndrome. Retrospective studies have established its link with hematological malignancies, particularly lymphoproliferative disorders. Here, we present what we believe to be the inaugural case of successful simultaneous management of BP and de novo acute myeloid leukemia (AML) in a 28-year-old male patient. Given the rarity and severity of both conditions, our treatment strategy aimed to maximize efficacy by combining immunosuppressive therapy (initially plasmapheresis with high-dose corticosteroids, followed by anti-CD20 monoclonal antibody and intravenous immunoglobulins 2 g/m2) with lymphodepleting antileukemic chemotherapy utilizing Fludarabine (FLAG-IDA induction regimen). Following diagnosis, considering the patient's youth and the concurrent presence of two rare and potentially life-threatening diseases, we opted for an aggressive treatment. Upon achieving complete morphological remission of AML with measurable residual disease (MRD) negativity, despite incomplete resolution of BP, we proceeded with high-dose cytarabine consolidation followed by peripheral stem cell harvest and autologous stem cell transplantation (ASCT). Our conditioning regimen for ASCT involved Bu-Cy with the addition of anti-thymocyte globulins. At day + 100 post-ASCT, bone marrow evaluation confirmed morphological remission and MRD negativity. Meanwhile, BP had completely resolved with normalization of BP180 antibody levels.


Subject(s)
Leukemia, Myeloid, Acute , Paraneoplastic Syndromes , Humans , Male , Adult , Leukemia, Myeloid, Acute/therapy , Leukemia, Myeloid, Acute/complications , Paraneoplastic Syndromes/etiology , Paraneoplastic Syndromes/therapy , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Pemphigoid, Bullous/therapy , Pemphigoid, Bullous/drug therapy , Cytarabine/administration & dosage , Cytarabine/therapeutic use , Immunosuppressive Agents/therapeutic use , Pemphigus/therapy , Pemphigus/complications , Vidarabine/analogs & derivatives , Vidarabine/therapeutic use , Vidarabine/administration & dosage , Immunoglobulins, Intravenous/therapeutic use , Plasmapheresis , Precision Medicine
9.
J Investig Med High Impact Case Rep ; 12: 23247096241255840, 2024.
Article in English | MEDLINE | ID: mdl-38767173

ABSTRACT

Cutaneous paraneoplastic syndromes due to Hodgkin lymphoma present with a wide spectrum of clinical manifestations from generalized pruritus to exfoliative erythroderma. We summarize the clinical findings and outcomes of 14 patients with Hodgkin lymphoma and associated cutaneous paraneoplastic syndromes treated at Mayo Clinic over the past 3 decades. Cutaneous paraneoplastic syndromes may be present at the time of lymphoma diagnosis, whereas in other patients, it may appear at the time of relapse, including patients with initial absence of cutaneous manifestations during the initial lymphoma presentation. Our results indicate that complete resolution of the paraneoplastic syndrome is associated with significantly improved overall survival. Recognition of cutaneous paraneoplastic syndromes is a crucial surrogate of relapsed malignancy and treatment requires targeting the underlying malignancy.


Subject(s)
Hodgkin Disease , Paraneoplastic Syndromes , Humans , Hodgkin Disease/complications , Hodgkin Disease/diagnosis , Paraneoplastic Syndromes/diagnosis , Male , Female , Middle Aged , Adult , Aged , Young Adult , Skin Diseases/etiology , Skin Diseases/diagnosis , Adolescent
10.
Int J Rheum Dis ; 27(5): e15187, 2024 May.
Article in English | MEDLINE | ID: mdl-38742741

ABSTRACT

Thymic tumors are very rare neoplasms in children and account for less than 1% of mediastinal tumors in pediatric patients. One-third of the pediatric patients present with symptoms related to the compression of the tumor mass on the surrounding anatomic structures, and paraneoplastic syndromes such as myasthenia gravis, pure red cell aplasia, acquired hypogammaglobulinemia, and connective tissue disorders, which rarely occur in children with thymic tumors. Herein, we report a case of thymic carcinoma mimicking the symptoms of a connective tissue disease with symmetrical polyarthritis accompanying myositis, fever, weight loss, and malaise in a 15-year-old male patient. To our knowledge, this is the first case pediatric thymic carcinoma accompany with severe polyarthritis and myopathy, thus we have reviewed the current literature regarding the cases of thymic malignancies coexisting with paraneoplastic syndromes in children.


Subject(s)
Arthritis , Myositis , Paraneoplastic Syndromes , Thymoma , Thymus Neoplasms , Humans , Male , Myositis/diagnosis , Myositis/complications , Paraneoplastic Syndromes/diagnosis , Paraneoplastic Syndromes/etiology , Thymus Neoplasms/complications , Thymus Neoplasms/diagnosis , Adolescent , Arthritis/diagnosis , Arthritis/etiology , Thymoma/complications , Thymoma/diagnosis , Treatment Outcome , Thymectomy , Biopsy
11.
J Assoc Physicians India ; 72(1): 99-102, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38736082

ABSTRACT

BACKGROUND: Peripheral T cell lymphoma (PTCL), not otherwise specified (NOS) is a heterogenous group of predominantly nodal T cell lymphomas that generally presents with lymphadenopathy with or without extra nodal involvement. Acral vascular syndrome clinically presents as digital ischemia with Raynaud's phenomenon and acral cyanosis. Although, this condition is commonly associated with connective tissue disorder, smoking and vasculitis, its association with lymphoid malignancy is very rare. Here, we present a case report of a patient with digital gangrene of all toes and fingers as a presenting symptom of PTCL-NOS. CASE DESCRIPTION: A 62 year old male presented with digital ischemia associated with pain, low grade fever, loss of appetite and significant weight loss of 6 kilograms over a period of 3 months. On examination, he was found to have bilateral inguinal and axillary lymph nodes with gangrenous changes over toes and fingers but peripheral pulses were palpable. On evaluation he had anemia, elevated ESR and CRP. CT angiogram revealed thinned out digital arteries with multifocal areas of narrowing. Patient was screened for other causes of digital gangrene and was tested negative for ANCA, ANA, cryoglobulins and viral markers. Lymph node biopsy with IHC was suggestive of peripheral T-cell lymphoma-NOS and was started on CHOP regimen. Lymph nodes size decreased and gangrenous changes resolved. CONCLUSION: Though digital ischemia is a rare paraneoplastic presentation of lymphoma, it should be considered if there is a rapid progression of gangrene. Early initiation of chemotherapy may result in the reduction of further progression of digital gangrene and thus prevent permanent disability. In our patient, progression of gangrene was prevented even though it was an aggressive variant of T cell lymphoma.


Subject(s)
Fingers , Gangrene , Lymphoma, T-Cell, Peripheral , Paraneoplastic Syndromes , Toes , Humans , Male , Gangrene/etiology , Gangrene/diagnosis , Lymphoma, T-Cell, Peripheral/diagnosis , Lymphoma, T-Cell, Peripheral/complications , Middle Aged , Fingers/pathology , Paraneoplastic Syndromes/diagnosis , Paraneoplastic Syndromes/etiology , Toes/pathology , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Cyclophosphamide/therapeutic use , Doxorubicin/therapeutic use , Vincristine/therapeutic use , Prednisone/therapeutic use
12.
Front Endocrinol (Lausanne) ; 15: 1373794, 2024.
Article in English | MEDLINE | ID: mdl-38689735

ABSTRACT

Phosphaturic mesenchymal tumors (PMT) are rare and distinctive tumors that typically result in paraneoplastic syndrome known as tumor-induced osteomalacia (TIO). We report a case of bilateral osteoporotic femoral neck fracture caused by PMT. PMT was surgically resected, followed by sequential treatment of bilateral femoral neck fractures with total hip arthroplasty (THA). A 49-year-old perimenopausal woman experienced consistent bone pain with limb weakness persisting for over 2 years. Initially, she was diagnosed with early osteonecrosis of the femoral head and received nonsurgical treatment. However, from 2020 to 2022, her pain extended to the bilateral shoulders and knees with increased intensity. She had no positive family history or any other genetic diseases, and her menstrual cycles were regular. Physical examination revealed tenderness at the midpoints of the bilateral groin and restricted bilateral hip range of motion, with grade 3/5 muscle strength in both lower extremities. Laboratory findings revealed moderate anemia (hemoglobin 66 g/L), leukopenia (2.70 × 109/L), neutropenia (1.28 × 109/L), hypophosphatemia (0.36 mmol/L), high alkaline phosphatase activity (308.00 U/L), and normal serum calcium (2.22 mmol/L). After surgery, additional examinations were performed to explore the cause of hypophosphatemic osteomalacia. After definitive diagnosis, the patient underwent tumor resection via T11 laminectomy on August 6, 2022. Six months after the second THA, the patient regained normal gait with satisfactory hip movement function without recurrence of PMT-associated osteomalacia or prosthesis loosening. By providing detailed clinical data and a diagnostic and treatment approach, we aimed to improve the clinical understanding of femoral neck fractures caused by TIO.


Subject(s)
Femoral Neck Fractures , Neoplasms, Connective Tissue , Osteomalacia , Paraneoplastic Syndromes , Humans , Female , Osteomalacia/etiology , Middle Aged , Femoral Neck Fractures/surgery , Femoral Neck Fractures/etiology , Femoral Neck Fractures/complications , Paraneoplastic Syndromes/etiology , Neoplasms, Connective Tissue/etiology , Neoplasms, Connective Tissue/diagnosis , Neoplasms, Connective Tissue/surgery , Hypophosphatemia/etiology , Arthroplasty, Replacement, Hip
13.
In Vivo ; 38(3): 1503-1508, 2024.
Article in English | MEDLINE | ID: mdl-38688636

ABSTRACT

BACKGROUND/AIM: Membranous nephropathy (MN) is a nephrotic syndrome with both idiopathic and secondary etiologies. The mechanism of cancer-associated MN is presumed to involve the immunological production of antibodies against a tumor antigen, although little is known about the detailed mechanism. Lung cancer is a major neoplasm associated with cancer-associated MN. However, the simultaneous occurrence of secondary MN in patients with cancer of unknown primary (CUP) remains unclear. CASE REPORT: Here, we present a case of secondary MN in a 72-year-old female as a paraneoplastic syndrome in CUP. Thoracic radiotherapy up to a total of 60 Gy was initially performed on the right subclavian and mediastinal lymph nodes. Computed tomography revealed marked shrinking of these lymph nodes, and the secondary MN also improved without any symptoms. CONCLUSION: The presence of proteinuria in patients with CUP suggests the possibility of secondary MN as a rare differential diagnosis.


Subject(s)
Glomerulonephritis, Membranous , Neoplasms, Unknown Primary , Paraneoplastic Syndromes , Humans , Glomerulonephritis, Membranous/diagnosis , Glomerulonephritis, Membranous/pathology , Glomerulonephritis, Membranous/etiology , Glomerulonephritis, Membranous/complications , Aged , Paraneoplastic Syndromes/diagnosis , Paraneoplastic Syndromes/etiology , Paraneoplastic Syndromes/pathology , Female , Neoplasms, Unknown Primary/complications , Neoplasms, Unknown Primary/diagnosis , Tomography, X-Ray Computed , Diagnosis, Differential
15.
World Neurosurg ; 187: 70-81, 2024 Jul.
Article in English | MEDLINE | ID: mdl-38561034

ABSTRACT

BACKGROUND: Phosphaturic Mesenchymal Tumors (PMTs) are rare mesenchymal neoplasms known for producing Tumor-induced Osteomalacia (TIO). TIO is an uncommon paraneoplastic syndrome characterized by radiographic evidence of inadequate bone mineralization and analytical abnormalites. METHODS: We sought to present a case of TIO caused by skull base PMT with intracranial extension, manifesting with pain, progressive weakness, and multiple bone fractures. Furthermore, a systematic review was performed, following the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines. A search was conducted in PubMed database with title/abstract keywords "Phosphaturic mesenchymal tumor" and "Osteomalacia." Search results were reviewed looking for intracranial or skull base tumors. RESULTS: Our systematic review included 29 reported cases of intracranial PMT. In the reviewed cases there was a significative female predominance with 22 cases (75,86%). Osteomalacia was presented in 25 cases (86,20%). Bone fractures were present in 10 cases (34,48%). The most common site of involvement was the anterior cranial fossa in 14 cases (48,27%). Surgery was performed in 27 cases (93,10%) with previous tumor embolization in 4 cases (13,79%). Total recovery of the presenting symptoms in the first year was achieved in 21 cases (72,41%). Recurrence of the disease was described in 6 cases (25%). CONCLUSIONS: Skull base PMTs with intracranial extension are extremely rare tumors. Most patients are middle-aged adults with a PMT predominantly located in anterior cranial fossa. Surgery is the current treatment of choice with optimal outcome at 1-year follow-up, although recurrence could be present in almost 25% of the cases.


Subject(s)
Osteomalacia , Paraneoplastic Syndromes , Humans , Osteomalacia/etiology , Female , Neoplasms, Connective Tissue/diagnostic imaging , Neoplasms, Connective Tissue/surgery , Mesenchymoma/surgery , Mesenchymoma/complications , Mesenchymoma/pathology , Mesenchymoma/diagnostic imaging , Skull Base Neoplasms/surgery , Skull Base Neoplasms/diagnostic imaging , Skull Base Neoplasms/complications , Male , Adult , Brain Neoplasms/complications , Brain Neoplasms/surgery , Brain Neoplasms/diagnostic imaging , Middle Aged
16.
Curr Opin Endocrinol Diabetes Obes ; 31(4): 170-175, 2024 Aug 01.
Article in English | MEDLINE | ID: mdl-38687287

ABSTRACT

PURPOSE OF REVIEW: Fibroblast growth factor 23 (FGF23) is a hormone to reduce blood phosphate concentration. Excessive actions of FGF23 induce FGF23-related hypophosphatemic disorders, such as X-linked hypophosphatemic rickets (XLH) and tumor-induced osteomalacia (TIO). We will summarize recent advances in the diagnosis and treatment of FGF23-related hypophosphatemic disorders. RECENT FINDINGS: The measurement of blood FGF23 is useful to make a diagnosis of FGF23-related hypophosphatemic disorders. It was reported that many patients with FGF23-related hypophosphatemic disorders, especially TIO, were misdiagnosed, therefore, it is necessary to enhance the awareness of these diseases. A novel method to inhibit excessive actions of FGF23 by a human monoclonal antibody for FGF23, burosumab, has been approved in several countries. In more long-term observation than clinical trials, burosumab has also been shown to improve biochemical abnormalities and symptoms of rickets/osteomalacia. Following these advances, several registries and consensus recommendations on FGF23-related hypophosphatemic disorders, especially XLH, have been established in each country or region. SUMMARY: Further long-term effects of burosumab and the precise mechanism of FGF23 overproduction in patients with FGF23-related hypophosphatemic disorders need to be clarified in the future studies.


Subject(s)
Antibodies, Monoclonal, Humanized , Familial Hypophosphatemic Rickets , Fibroblast Growth Factor-23 , Fibroblast Growth Factors , Osteomalacia , Humans , Fibroblast Growth Factors/blood , Osteomalacia/etiology , Familial Hypophosphatemic Rickets/drug therapy , Familial Hypophosphatemic Rickets/diagnosis , Antibodies, Monoclonal, Humanized/therapeutic use , Hypophosphatemia/etiology , Paraneoplastic Syndromes , Neoplasms, Connective Tissue/etiology , Antibodies, Monoclonal/therapeutic use , Phosphates/metabolism , Phosphates/blood
17.
Medicina (Kaunas) ; 60(4)2024 Mar 28.
Article in English | MEDLINE | ID: mdl-38674198

ABSTRACT

Background and Objectives: Liver cancer poses a significant global health threat, ranking among the top three causes of cancer-related deaths. Patients with hepatocellular carcinoma (HCC) often present with symptoms associated with neoplasms or unusual clinical features such as paraneoplastic syndromes (PNS), including hypoglycemia, hypercholesterolemia, thrombocytosis, and erythrocytosis. Our study aimed to investigate the prevalence, clinical characteristics, and survival outcomes associated with PNS in HCC patients and assess each PNS's impact on patient survival. Materials and Methods: We conducted a retrospective analysis of PNS clinical features and survival among consecutive HCC patients diagnosed at our department over seven years, comparing them with HCC patients without PNS. The study involved a retrospective data evaluation from 378 patients diagnosed with HCC between January 2016 and October 2023. Results: We obtained a PNS prevalence of 25.7%, with paraneoplastic hypercholesterolemia at 10.9%, hypoglycemia at 6.9%, erythrocytosis at 4.5%, and thrombocytosis at 3.4%. Patients with PNS tended to be younger and predominantly male. Multivariate analysis revealed a strong correlation between PNS and levels of alpha-fetoprotein and tumor size, with diabetes also showing a significant statistical association (p < 0.05). Subgroup analysis based on specific paraneoplastic syndromes demonstrated shorter survival in patients with PNS, albeit without significant statistical differences, except for hypoglycemia (p < 0.0001). Matched analysis indicated a shorter survival rate for patients with PNS, although no significant statistical differences were observed. Conclusions: PNS are frequently observed in HCC cases and are associated with unfavorable prognoses and decreased survival rates due to their correlation with increased tumor burdens. However, they do not independently predict poor survival. The impact of individual PNS on HCC prognosis varies.


Subject(s)
Carcinoma, Hepatocellular , Liver Neoplasms , Paraneoplastic Syndromes , Humans , Male , Retrospective Studies , Carcinoma, Hepatocellular/mortality , Carcinoma, Hepatocellular/epidemiology , Carcinoma, Hepatocellular/complications , Female , Paraneoplastic Syndromes/epidemiology , Paraneoplastic Syndromes/mortality , Middle Aged , Liver Neoplasms/mortality , Liver Neoplasms/epidemiology , Liver Neoplasms/complications , Aged , Prevalence , Adult , Survival Analysis , Hypercholesterolemia/epidemiology , Hypercholesterolemia/complications , Hypoglycemia/epidemiology , Hypoglycemia/complications , Polycythemia/epidemiology , Polycythemia/complications , Aged, 80 and over , Thrombocytosis/epidemiology , Thrombocytosis/complications
18.
Am J Case Rep ; 25: e943152, 2024 Apr 13.
Article in English | MEDLINE | ID: mdl-38613142

ABSTRACT

BACKGROUND Tumor-induced osteomalacia (TIO) is a paraneoplastic syndrome caused by aberrant fibroblast growth factor-23 (FGF-23)-producing tumors. Early surgical resection is the optimal strategy for preventing TIO progression. Thus, tumor localization is a priority for successful treatment. A simple and safe examination method to identify functional endocrine tumors is essential to achieve better outcomes in patients with TIO. CASE REPORT A 64-year-old Japanese man with recurrent fractures, hypophosphatemia, and elevated alkaline phosphatase and FGF-23 levels (109 pg/mL) was admitted to our university hospital and was diagnosed with FGF23-related hypophosphatemic osteomalacia. Notably, the superficial dorsal vein in the patient's left foot exhibited a high FGF-23 level (7510 pg/mL). Octreotide and ¹8F-fluorodeoxyglucose (FDG) scintigraphy and systemic venous sampling revealed that the tumor in the third basal phalanx of the left foot was responsible for FGF-23 overproduction. Tumor resection resulted in a rapid decrease in serum FGF-23 levels and an increase in serum phosphorus levels. CONCLUSIONS Octreotide scintigraphy, FDG-positron emission tomography, and systemic venous sampling are the standard methods for localizing functional endocrine tumors. However, the limited availability and invasive nature of these examinations hinder effective treatment. Here, we highlight the importance of peripheral superficial blood sampling as an alternative to conventional systemic methods for confirming the presence of FGF-23-producing tumors. Clinicians should consider TIO as a potential cause of acquired hypophosphatemic osteomalacia. Furthermore, peripheral superficial vein blood sampling may be useful for confirming the localization of FGF-23-producing tumors.


Subject(s)
Neoplasms , Osteomalacia , Paraneoplastic Syndromes , Male , Humans , Middle Aged , Osteomalacia/etiology , Fibroblast Growth Factor-23 , Fluorodeoxyglucose F18 , Octreotide
19.
Dermatologie (Heidelb) ; 75(7): 568-571, 2024 Jul.
Article in German | MEDLINE | ID: mdl-38441569

ABSTRACT

The genesis of subacute cutaneous lupus erythematosus (SCLE) is multifactorial and includes idiopathic, drug-related and paraneoplastic etiologies. This article reports the case of a 70-year-old female patient with paraneoplastic SCLE in whom a lung adenocarcinoma was detected during the extended examination. A paraneoplastic SCLE should be considered when a patient with SCLE presents with lesions in regions of the skin not exposed to sunlight and beginning B symptoms.


Subject(s)
Lung Neoplasms , Lupus Erythematosus, Cutaneous , Paraneoplastic Syndromes , Humans , Female , Lupus Erythematosus, Cutaneous/pathology , Lupus Erythematosus, Cutaneous/diagnosis , Aged , Paraneoplastic Syndromes/pathology , Paraneoplastic Syndromes/diagnosis , Paraneoplastic Syndromes/etiology , Lung Neoplasms/pathology , Lung Neoplasms/complications , Lung Neoplasms/radiotherapy , Lung Neoplasms/diagnosis , Adenocarcinoma/pathology , Adenocarcinoma/complications , Adenocarcinoma/diagnosis , Adenocarcinoma/radiotherapy , Diagnosis, Differential
20.
Crit Rev Oncol Hematol ; 196: 104314, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38447785

ABSTRACT

Paraneoplastic neurological syndromes (PNS) are rare neurological disorders arising from malignancy-triggered autoimmunity, yet their association with urothelial carcinoma remains unclear. This systematic review intends to explore any connection, alongside patient/clinical features and management. A literature search identified 25 cases of bladder and upper tract carcinoma linked to PNS. Overall, while infrequent, a meaningful association between PNS and urothelial carcinoma was found in that 84% of cases met a 'possible'-or-'higher-likelihood' PNS diagnosis. Most cases presented with high-risk PNS phenotypes, predominantly cerebellar syndromes and encephalomyelitis/sensory neuronopathy, ∼17 months within cancer diagnosis/recurrence. Review findings suggest a female preponderance in suspected PNS despite higher male incidence of urothelial cancer. Main treatments consisted of surgery alongside chemotherapy or immunotherapeutics (IVIG and/or corticosteroids), which improved symptoms for a slight majority (60%). Ultimately, while common PNS-associated neoplasms should always first be excluded in suspected PNS, in the absence of alternative causes, urothelial carcinomas do merit clinical consideration.


Subject(s)
Carcinoma, Transitional Cell , Paraneoplastic Syndromes , Urinary Bladder Neoplasms , Humans , Male , Female , Urinary Bladder Neoplasms/complications , Urinary Bladder Neoplasms/diagnosis , Urinary Bladder Neoplasms/epidemiology , Carcinoma, Transitional Cell/complications , Carcinoma, Transitional Cell/diagnosis , Carcinoma, Transitional Cell/epidemiology , Neoplasm Recurrence, Local , Autoimmunity
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