RESUMEN
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.
Asunto(s)
Síndromes Paraneoplásicos , Pénfigo , Humanos , Pénfigo/diagnóstico , Pénfigo/etiología , Masculino , Síndromes Paraneoplásicos/diagnóstico , Enfermedad de Castleman/complicaciones , Enfermedad de Castleman/diagnóstico , Diagnóstico Diferencial , Persona de Mediana EdadRESUMEN
A man in his 30s presented with several months of non-bloody diarrhoea and nausea along with conjunctivitis, diffuse ichthyosis and cellulitis in the setting of progressive neck swelling. He was ultimately diagnosed with nodular sclerosing Hodgkin's lymphoma after undergoing a broad infectious, rheumatological and neoplastic workup. This represents a rare presentation of classic Hodgkin's lymphoma and demonstrates the known alteration of cellular immunity in Hodgkin's lymphoma alongside manifestations of the profound inflammatory state associated with the disease. The patient was initiated on chemotherapy and many of his symptoms resolved. Hodgkin's lymphoma may present as a multisystemic cascade of symptoms and should be high on the differential diagnosis for a patient with lymphadenopathy and associated infectious, gastrointestinal and cutaneous symptoms.
Asunto(s)
Enfermedad de Hodgkin , Ictiosis Vulgar , Ictiosis , Linfadenopatía , Humanos , Masculino , Diarrea/complicaciones , Enfermedad de Hodgkin/complicaciones , Enfermedad de Hodgkin/diagnóstico , Enfermedad de Hodgkin/tratamiento farmacológico , Ictiosis Vulgar/complicaciones , AdultoRESUMEN
Extramammary Paget disease is a rare dermatological condition resembling Paget disease that occurs most commonly in the anogenital area and axilla. We present the case of an elderly male who had come with complaints of an itchy, erythematous and raised lesion in the perianal region for 3 months that did not respond to antifungals. A biopsy was taken from the lesion site and the diagnosis was confirmed by histopathological examination. It is important to be aware of conditions like extramammary Paget disease when an elderly individual presents with a non-specific pruritic lesion in the perianal area that is non-responsive to treatment; the diagnosis of which can be made only by doing a biopsy from the concerned site. This highlights the importance of histopathological examination in such ambiguous cases.
Asunto(s)
Enfermedad de Paget Extramamaria , Anciano , Humanos , Masculino , Enfermedad de Paget Extramamaria/diagnóstico , Extremidades , Antifúngicos , Concienciación , Axila , Enfermedades RarasRESUMEN
We present a case of primary rhabdoid tumour of the orbit. Presenting features at birth included congenital ptosis, conjunctival injection, hyphaema and microphthalmia. The unique presentation caused a late diagnosis following the development of rapid proptosis 6 months later. We suggest that orbital rhabdoid tumour be considered in the differential diagnoses of patients presenting with atypical persistent foetal vasculature features.
Asunto(s)
Exoftalmia , Microftalmía , Neoplasias Orbitales , Vítreo Primario Hiperplásico Persistente , Tumor Rabdoide , Humanos , Diagnóstico Diferencial , Exoftalmia/etiología , Hipema , Neoplasias Orbitales/diagnóstico , Tumor Rabdoide/diagnóstico , LactanteRESUMEN
Extramedullary relapse in patients with multiple myeloma (MM) is often associated with loss of biochemical response and the appearance of measurable residual disease in the bone marrow. Fever is an unusual presenting manifestation of MM. Treatment of extramedullary relapse in patients progressing on proteasome inhibitors, anti-CD38 monoclonal antibodies and immunomodulatory drugs is challenging, as access to chimeric antigen receptor T-cells and bispecific antibodies is limited. We report a case of relapsed MM who presented with fever and hepatic space-occupying lesion mimicking hepatocellular carcinoma. In this case report, we also present our experience of using a novel combination regimen comprising Dara-Pom-Benda-Dexa (daratumumab, pomalidomide, dexamethasone and bendamustine) for relapsed MM.
Asunto(s)
Mieloma Múltiple , Talidomida/análogos & derivados , Humanos , Mieloma Múltiple/patología , Clorhidrato de Bendamustina/uso terapéutico , Dexametasona/uso terapéutico , Recurrencia Local de Neoplasia/tratamiento farmacológico , Anticuerpos Monoclonales/uso terapéutico , Hígado/patología , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéuticoRESUMEN
The combination therapy of v-Raf murine sarcoma viral oncogene homolog B1 (BRAF) and mitogen-activated protein kinase kinase (MEK) inhibitors is approved for treating patients with BRAF V600E-positive tumours, including melanoma and lung cancer. Several case reports indicated autoimmune side effects associated with the use of BRAF and MEK inhibitors. Still, the effects of these drugs on the immune system were not fully elucidated. Here, we report a patient with large-vessel vasculitis diagnosed after initiation of treatment with dabrafenib and trametinib for BRAF V600E-positive metastatic lung adenocarcinoma. She was a never-smoker woman in her early 70s who presented with a chronic cough and was diagnosed with BRAF V600E-positive metastatic lung adenocarcinoma by transbronchial lung biopsy. She was successfully treated with prednisolone and methotrexate while BRAF and MEK inhibitors were continued. We should be careful about autoimmune diseases using BRAF and MEK inhibitors.
Asunto(s)
Adenocarcinoma del Pulmón , Imidazoles , Neoplasias Pulmonares , Oximas , Inhibidores de Proteínas Quinasas , Proteínas Proto-Oncogénicas B-raf , Piridonas , Pirimidinonas , Vasculitis , Humanos , Proteínas Proto-Oncogénicas B-raf/antagonistas & inhibidores , Proteínas Proto-Oncogénicas B-raf/genética , Femenino , Piridonas/efectos adversos , Piridonas/uso terapéutico , Pirimidinonas/uso terapéutico , Pirimidinonas/efectos adversos , Neoplasias Pulmonares/tratamiento farmacológico , Anciano , Adenocarcinoma del Pulmón/tratamiento farmacológico , Imidazoles/efectos adversos , Imidazoles/uso terapéutico , Oximas/efectos adversos , Oximas/uso terapéutico , Vasculitis/inducido químicamente , Inhibidores de Proteínas Quinasas/efectos adversos , Inhibidores de Proteínas Quinasas/uso terapéutico , Prednisolona/uso terapéutico , Metotrexato/uso terapéutico , Metotrexato/efectos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéuticoRESUMEN
Drug-induced pleural effusion is one of the rare causes of exudative pleural effusion and a high index of suspicion is necessary to lead to early diagnosis. We hereby present the case of a young male in his late 30s, known case of metastatic gastrointestinal stromal tumour on sunitinib therapy, who presented with right-sided mild pleural effusion. Diagnostic thoracentesis showed the effusion to be a monomorphic exudate with low adenosine deaminase, which was negative for malignant cells on cytopathology. A contrast-enhanced CT chest revealed an enlarged lymph node (LN) at the 4R station, cytological analysis of which was suggestive of reactive lymphoid hyperplasia. Infective workup of the LN aspirate and bronchoalveolar lavage taken from the right middle lobe was negative. After systematically excluding the usual causes of exudative pleural effusion, sunitinib was considered to be a possible cause and was, therefore, withheld. A repeat chest X-ray after 3 weeks of stopping the drug showed resolution of the pleural effusion.
Asunto(s)
Antineoplásicos , Derrame Pleural , Sunitinib , Humanos , Masculino , Sunitinib/efectos adversos , Sunitinib/uso terapéutico , Derrame Pleural/inducido químicamente , Derrame Pleural/diagnóstico por imagen , Adulto , Antineoplásicos/efectos adversos , Tumores del Estroma Gastrointestinal/tratamiento farmacológico , Tomografía Computarizada por Rayos X , Toracocentesis , Indoles/efectos adversos , Indoles/uso terapéuticoRESUMEN
Haemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory condition that can be either familial or acquired and, if untreated, frequently results in multiorgan failure and death. Treatment of HLH typically requires a combination of glucocorticoids and cytotoxic chemotherapy. We describe the case of a woman who presented with signs and symptoms concerning for HLH who was later found to have a primary central nervous system (CNS) diffuse large B-cell lymphoma. Her HLH symptoms were successfully treated with high doses of dexamethasone, and her primary CNS lymphoma was treated with high-dose methotrexate and rituximab. This is a rare case of HLH secondary to primary CNS lymphoma where HLH was controlled with steroids alone and did not require the use of an etoposide-based regimen or cyclophosphamide, doxorubicin, vincristine and prednisone.
Asunto(s)
Neoplasias del Sistema Nervioso Central , Etopósido , Linfohistiocitosis Hemofagocítica , Linfoma de Células B Grandes Difuso , Humanos , Linfohistiocitosis Hemofagocítica/tratamiento farmacológico , Linfohistiocitosis Hemofagocítica/complicaciones , Femenino , Etopósido/uso terapéutico , Etopósido/administración & dosificación , Neoplasias del Sistema Nervioso Central/tratamiento farmacológico , Neoplasias del Sistema Nervioso Central/complicaciones , Linfoma de Células B Grandes Difuso/tratamiento farmacológico , Linfoma de Células B Grandes Difuso/complicaciones , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Dexametasona/uso terapéutico , Dexametasona/administración & dosificación , Rituximab/uso terapéutico , Rituximab/administración & dosificación , Metotrexato/uso terapéutico , Metotrexato/administración & dosificación , Persona de Mediana Edad , Resultado del TratamientoRESUMEN
We report a case of an Ewing-like sarcoma of the gluteal region with ongoing growth during the second trimester of pregnancy and noted during the third trimester. This lesion was consequently studied to infer its malignant potential. Several examinations were conducted to characterise this lesion, such as ultrasound and MR, which showed signs of tumourous invasion of the deep tissues of the gluteal region.Given that the pregnancy was at the end of the third trimester, the decision was made to schedule the delivery at 37 weeks of gestation and treat the tumour afterwards to balance maternal and fetal health.This case illustrates the need for a detailed investigation and guidance by a multidisciplinary team to provide prenatal counselling regarding a malignant tumour during pregnancy.
Asunto(s)
Complicaciones Neoplásicas del Embarazo , Sarcoma de Ewing , Humanos , Femenino , Embarazo , Nalgas , Sarcoma de Ewing/patología , Sarcoma de Ewing/diagnóstico , Sarcoma de Ewing/diagnóstico por imagen , Sarcoma de Ewing/terapia , Complicaciones Neoplásicas del Embarazo/diagnóstico , Complicaciones Neoplásicas del Embarazo/patología , Complicaciones Neoplásicas del Embarazo/diagnóstico por imagen , Adulto , Imagen por Resonancia Magnética , Tercer Trimestre del Embarazo , Neoplasias Óseas/diagnóstico , Neoplasias Óseas/patología , Segundo Trimestre del EmbarazoRESUMEN
A woman in her late 50s presented to the ophthalmology clinic having bilateral eye pain and discharge for the last month. Her medical history was significant for lung adenocarcinoma, for which she was being treated with nivolumab. Filamentary keratitis was evident at the slit-lamp examination. Regardless of ophthalmic reasons, nivolumab was suspended. Prednisolone ointment was started, with a complete remission. We present a case of steroid-responsive filamentary keratitis triggered by nivolumab. We aim to highlight the importance of prompt ophthalmology referral and the use of therapies targeting ocular surface inflammation in immune checkpoint inhibition therapy.
Asunto(s)
Queratitis , Nivolumab , Humanos , Nivolumab/efectos adversos , Femenino , Persona de Mediana Edad , Queratitis/tratamiento farmacológico , Queratitis/inducido químicamente , Queratitis/diagnóstico , Antineoplásicos Inmunológicos/efectos adversos , Prednisolona/uso terapéutico , Prednisolona/administración & dosificación , Neoplasias Pulmonares/tratamiento farmacológico , Inhibidores de Puntos de Control Inmunológico/efectos adversos , Adenocarcinoma del Pulmón/tratamiento farmacológicoRESUMEN
A man in his 60s presented to an outside hospital with persistent groin pain and a scrotal mass which was thought to be a recurrent hernia. Three months after initial presentation, the patient was found to have dedifferentiated liposarcoma (LPS) of the spermatic cord. LPS of the spermatic cord is a rare entity; however, clinicians should have LPS on the differential diagnosis especially in men with recurrent scrotal pain and mass. If unrecognised, LPS is associated with a high degree of morbidity and mortality. LPS can be subdivided into well-differentiated LPS, dedifferentiated LPS, myxoid LPS and pleomorphic LPS. In patients with advanced or metastatic LPS, chemotherapy consisting of Adriamycin, ifosfamide and mesna is used despite LPS being relatively chemoresistant. Therapies inhibiting mouse double minute 2 homologue, an oncoprotein that is a negative regulator of the tumour suppressor p53, appear to be promising in preclinical trials.
Asunto(s)
Neoplasias de los Genitales Masculinos , Lipoma , Liposarcoma Mixoide , Liposarcoma , Cordón Espermático , Masculino , Animales , Ratones , Humanos , Adulto , Cordón Espermático/patología , Lipopolisacáridos , Liposarcoma/patología , Liposarcoma Mixoide/patología , Lipoma/patología , Dolor , Neoplasias de los Genitales Masculinos/patologíaRESUMEN
In this report, two cases of patients with severe adverse events after an adjuvant treatment with capecitabine are described in detail. The first patient suffered from a severe ileocolitis, where ultimately intensive care treatment, total colectomy and ileum resection was necessary. The second patient experienced a toxic enteritis, which could be managed conservatively. Post-therapeutic DPYD genotyping was negative in the former and positive in the latter case. Patients can be categorised in normal, moderate and poor DPYD metabolisers to predict the risk of adverse events of capecitabine treatment. Guidelines in various European countries recommend pretherapeutic DPYD genotyping, whereas it is not recommended by the National Comprehensive Cancer Network in the USA. Irrespective of DPYD genotyping, strict therapeutic drug monitoring is highly recommended to reduce the incidence and severity of adverse events.
Asunto(s)
Antimetabolitos Antineoplásicos , Capecitabina , Dihidrouracilo Deshidrogenasa (NADP) , Monitoreo de Drogas , Humanos , Capecitabina/efectos adversos , Capecitabina/uso terapéutico , Monitoreo de Drogas/métodos , Antimetabolitos Antineoplásicos/efectos adversos , Antimetabolitos Antineoplásicos/uso terapéutico , Masculino , Dihidrouracilo Deshidrogenasa (NADP)/genética , Persona de Mediana Edad , Femenino , Anciano , Colectomía , GenotipoRESUMEN
IgM monoclonal gammopathies such as IgM myeloma and Waldenström macroglobulinaemia are distinct haematological conditions; however, differentiating between these entities can often present as a challenge.In this review, we explore the challenging diagnosis and treatment of IgM myeloma in a patient presenting with unexplained macrocytic anaemia, elevated serum protein and IgM levels in the absence of t(11;14) and lytic bone lesions that are classically associated with the diagnosis of IgM myeloma. The diagnosis was established based on 40% monoclonal plasma cell population on a bone marrow biopsy, gain of 1q21 on fluorescence in situ hybridisation, cyclin D1 positivity and absence of MYD88 mutation.
Asunto(s)
Mieloma Múltiple , Macroglobulinemia de Waldenström , Humanos , Mieloma Múltiple/patología , Médula Ósea/patología , Células Plasmáticas/patología , Macroglobulinemia de Waldenström/genética , Inmunoglobulina MRESUMEN
Sarcoid-like reactions (SLRs) are rare, granulomatous inflammatory reactions to immune checkpoint inhibitors (ICIs) that can involve any organ but frequently affect the lungs, mediastinal lymph nodes and skin. We present a rare case of an exclusively cutaneous SLR due to pembrolizumab that clinically resembled dermatomyositis. A literature review yielded only 12 previously reported cases of ICI-induced cutaneous SLR without any systemic involvement. Our case highlights the diversity of presentations of cutaneous SLR and emphasises the importance of histological evaluation of new cutaneous eruptions.
Asunto(s)
Melanoma , Sarcoidosis , Enfermedades de la Piel , Humanos , Melanoma/patología , Sarcoidosis/inducido químicamente , Sarcoidosis/patología , Enfermedades de la Piel/inducido químicamente , Piel/patología , Inmunoterapia/efectos adversosRESUMEN
The anti-PD-1 antibody cemiplimab has demonstrated effectiveness in the setting of locally advanced basal cell carcinoma (BCC) and squamous cell carcinoma. We describe a case of a large, locally invasive basosquamous carcinoma, an aggressive type of BCC, invading the left sternocleidomastoid muscle with near compression of the left internal jugular vein producing a severe anaemia secondary to ulceration and chronic blood loss. The patient was initially started on vismodegib monotherapy but failed to respond. He was then started on cemiplimab in addition to vismodegib. Improvement was noted after one cycle. After 21 cycles of cemiplimab, the left shoulder ulcerated lesion was completely re-epithelialised. He remains in complete remission after 31 cycles of cemiplimab in addition to vismodegib.
Asunto(s)
Antineoplásicos , Carcinoma Basocelular , Carcinoma Basoescamoso , Neoplasias Cutáneas , Masculino , Humanos , Carcinoma Basoescamoso/tratamiento farmacológico , Neoplasias Cutáneas/patología , Carcinoma Basocelular/tratamiento farmacológico , Carcinoma Basocelular/patología , Anilidas/uso terapéutico , Antineoplásicos/uso terapéuticoRESUMEN
Leptomeningeal spread of cancer is rare, difficult to both diagnostically confirm and treat, and associated with a poor prognosis. The blood-brain barrier largely prevents sufficient penetration of systemic therapy to be effective. Direct administration of intrathecal therapy has thus been used as an alternative treatment option. We present a case of breast cancer complicated by leptomeningeal spread. Intrathecal methotrexate was initiated, and the manifestation of systemic side effects suggested systemic absorption. This was subsequently confirmed by blood work showing detectable methotrexate levels following intrathecal administration as well as resolution of symptoms with reduction in the dose of methotrexate administered.
Asunto(s)
Neoplasias de la Mama , Neoplasias Meníngeas , Humanos , Femenino , Metotrexato/uso terapéutico , Neoplasias Meníngeas/terapia , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias de la Mama/tratamiento farmacológico , Absorción Fisiológica , Inyecciones EspinalesRESUMEN
The identification of genetic variants in melanoma has enabled the development of targeted therapies. Under the National Institute for Health and Care Excellence (NICE) guidance, patients with BRAF V600E variant are eligible for BRAF and MEK inhibitor therapy. For those with advanced or highly symptomatic disease, a rapid response to treatment is often seen. Current practice relies on tissue biopsy to perform immunohistochemistry (IHC) or next generation sequencing (NGS) to identify these variants; however, this can take up to 2 weeks. In patients with widespread disease, rapid initiation of treatment can be lifesaving.We describe a case in which hotspot circulating tumour DNA (ctDNA) analysis confirmed BRAF variant 6 days prior to biopsy results. This was utilised to expedite treatment initiation and symptomatically, the patient had initial improvement within a few days.This article demonstrates the potential value of ctDNA analysis and the need for further research into this as an alternative to NGS for patients with rapidly progressive disease.
Asunto(s)
Melanoma , Neoplasias Cutáneas , Humanos , Proteínas Proto-Oncogénicas B-raf/genética , Melanoma/tratamiento farmacológico , Melanoma/genética , Melanoma/secundario , Neoplasias Cutáneas/tratamiento farmacológico , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patología , Mutación , Melanoma Cutáneo MalignoRESUMEN
Acinetobacter radioresistens is a rare cause of nosocomial infection and is believed to confer antibiotic resistance to aggressive bacterial species. We present the first reported case of polymicrobial endocarditis caused by A. radioresistens and Microbacterium paraoxydans co-infection, a case of a woman in her late 60s with bacteraemia and ultimate finding of endometrial carcinoma. Bacteraemia with either agent in a previously healthy patient should prompt providers to search for underlying malignancy or immunological problem.We support the use of matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry for identifying these organisms in cultures, as well as the development of faster isolation techniques through PCR. Furthermore, we advocate for providers to order early antibiotic susceptibility testing, since our patient's Microbacterium sp was not susceptible to meropenem unlike most Microbacterium reported in literature.
Asunto(s)
Bacteriemia , Carcinoma , Femenino , Humanos , Catéteres de Permanencia , Bacteriemia/microbiología , Espectrometría de Masa por Láser de Matriz Asistida de Ionización Desorción/métodosRESUMEN
We present the case of an HIV-negative man in his 50s who developed a generalised nodular rash while having first-line bortezomib-cyclophosphamide-dexamethasone chemotherapy for multiple myeloma. The rash was biopsied and proven to be Kaposi's sarcoma. The patient's treatment was interrupted at the sixth cycle of chemotherapy, by which time the rash had also spread to the oral mucosa and eyelid. The rash regressed spontaneously on stopping treatment. We were reluctant to restart myeloma treatment, but on the other hand, we wished to consolidate the very good partial response achieved. An autologous marrow transplant was done months later without any recurrence of his Kaposi's with the initiation of bortezomib maintenance. Bortezomib has putative activity against Kaposi's. The patient could benefit from imid-based (thalidomide, lenalidomide, pomalidomide) combination chemotherapy once his myeloma progresses or if there is a recurrence of Kaposi's sarcoma.
Asunto(s)
Mieloma Múltiple , Sarcoma de Kaposi , Masculino , Humanos , Mieloma Múltiple/tratamiento farmacológico , Mieloma Múltiple/patología , Sarcoma de Kaposi/tratamiento farmacológico , Sarcoma de Kaposi/patología , Bortezomib/uso terapéutico , Quimioterapia de Inducción , Dexametasona/uso terapéutico , Enfermedad Iatrogénica , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéuticoRESUMEN
Advanced gallbladder cancer (GBC) is not amenable to surgical resection. There are limited treatment options and the prognosis is dismal. The role of immune checkpoint inhibitors in conversion therapy remains unclear for initially unresectable advanced GBC. We present a case of a woman in her late 60s diagnosed with stage IV GBC with liver and para-aortic and retroperitoneal lymph node metastases, who achieved a pathological complete response after three cycles of programmed cell death-ligand 1 inhibitor durvalumab combined with gemcitabine and cisplatin regimen and underwent conversion surgery without complication. The patient went on to develop disease progression without adjuvant therapy 6 months after surgery.