Gammapatías monoclonales de significado clínico en reumatología / Monoclonal gammopathies with clinical significance in rheumatology

Las gammapatías monoclonales son un grupo amplio de enfermedades de células hematológicas con expresión clínica variable, con afectación sistémica o localizada. Muchos de estos trastornos simulan enfermedades reumáticas, y pueden presentarse previa- o posteriormente a la enfermedad de base, por lo cual dificultan su diagnóstico. El propósito de este estudio es comunicar los casos de cinco pacientes con manifestaciones clínicas de enfermedades reumáticas y diagnóstico final de enfermedades oncohematológicas. Se realizó un estudio descriptivo transversal mediante el análisis de historias clínicas de pacientes evaluados en el Servicio de Reumatología del Hospital José María Cullen de Santa Fe entre marzo del 2010 y junio del 2019. Se incluyó a cinco pacientes que fueron estudiados por sospecha de enfermedad reumatológica hasta llegar al diagnóstico final de gammapatía monoclonal. Cuatro pacientes presentaron mieloma múltiple manifestado como síndrome de Schnitzler; xantogranuloma del adulto y amiloidosis; aplastamientos vertebrales múltiples; falla renal aguda, respectivamente. El quinto paciente se presentó simulando una vasculitis sistémica con afectación multiorgánica y diagnóstico final de linfoma intravascular. Los pacientes fueron derivados al Servicio de Oncología y Hematología para su atención. A partir de la serie de casos analizados, se concluye que las manifestaciones reumáticas de las enfermedades oncohematológicas se deben tener presentes en el accionar diario para evitar la demora diagnóstica y los tratamientos innecesarios(AU)

Monoclonal gammapathies are a broad group of diseases from hematopoietic cells with variable clinical features and systemic or limited involvement. These entities could begin as a rheumatic disease, even previously to the diagnosis of MG. To describe five patients with rheumatic manifestations that lately were diagnosed as monoclonal gammapathies. We describe the more relevant features of five patients assisted in our rheumatology center. Four patients were diagnosed with multiple myeloma that begins as: 1) Schnitzler's syndrome, 2) Adult-onset xanthogranuloma and amyloidosis, 3) multiple vertebral fracture, 4) acute kidney failure. The 5th patient has a vasculitis-like syndrome due to an intravascular lymphoma. The rheumatic-like syndromes are infrequent but we should take into account this diagnosis in our clinical practice for rapid diagnostic and correct treatment(AU)

Two cases of rare HHV8-driven intravascular lymphoma with synchronous Kaposi sarcoma, both diagnosed at autopsy in renal transplant recipients

We present the first report of two rare yet remarkably similar autopsy cases of Kaposi sarcoma (KS) and intravascular human herpesvirus 8 (HHV8) positive lymphoproliferative disorder in renal transplant patients. It is well established that HHV8 infection causes Kaposi sarcoma (KS). More recently, it is recognized that HHV8 is also related to several lymphoproliferative conditions. These are poorly characterized and often difficult to diagnose. In both cases described herein, the diagnoses of multifocal hepatic KS and intravascular HHV8 positive (EBV negative) systemic diffuse large B-cell lymphoma, NOS were made at autopsy. Given the findings we describe in cases with fatal outcomes, we discuss the implications of HHV8 screening in solid allograft recipients.

Intravascular Large B-cell Lymphoma – Morphological Diagnosis in the Molecular Era

Intravascular large B-cell lymphoma (IVLBCL) is a rare variant of diffuse large B-cell lymphoma, characterized by its unique morphology. Modern-day diagnostic methods like flow cytometry have limitations in accurate diagnosis of the disease making morphology the mainstay for its diagnosis and adequate management. Here, we present a case of IVLBCL with emphasis on diagnostic aids and adjuncts. A 63-year-old female presented with fever of unknown origin, seizers, hepatosplenomegaly, and peripheral cytopenias. Bone marrow aspirate shows a small number of atypical lymphoid cells. Flow cytometry done on the aspirate yielded 7% abnormal lymphoid cells; however, further, subclassification of this non-Hodgkin lymphoma was not aided by it. Bone marrow biopsy revealed the intrasinusoidal localization of the tumor cells, which were positive for CD20, BCL2, and Mum1 and along with flow cytometric expression of CD5 and lambda restriction of tumor cells; a diagnosis of IVLBCL was made. IVLBCL is a rare entity with protean clinical presentation which frequently leads to a delay in diagnosis. Modern diagnostic modalities like flow cytometry help in picking up even a small number of tumor cells; however, it is limited by failure to subcategorize the entity making morphology and immunohistochemistry as the backbone of its diagnostic workup.

Intravascular large B cell lymphoma of thyroid gland and review of literature / 临床与实验病理学杂志

Purpose To investigate the clinical-pathological characteristics of the primary thyroid intravascular large B-cell lymphoma (PT-IVLBCL). Methods The clinical-patho-logical data of the PT-IVLBCL were analyzed retrospective. A comprehensive analysis of the literature on IVLBCL published between 1991-2017 in China were performed. Results A thy-roid mass was identified in a physical examination of a 68-year-old male who initially presented with dyspnea accompanied by intermittent headache for about 1 month. Pathological results showed that large atypical lymphoma-like cells filled the small vessel capillaries in the lesion area. Immunohistochemical staining revealed that the lymphoma-like cells were positive for CD20, Pax-5, BCL-2 and MUM1. The Ki-67 index was estimated to be approximately 85％. Conclusion IVLBCL is a rare and aggressive disease that is easy to be misdiagnosed or missed, because it's clinical presentations are non-specific. The correct diagnosis depends on pathology. IVLBCL is known for its rapid progression and poor prognosis, but timely diagnosis and treatment with chemotherapy can improve patients survival.

Clinicopathologic analysis of five cases of cutaneous intravascular natural killer/T-cell lymphoma / 中华皮肤科杂志

Objective To improve the understanding of cutaneous intravascular natural killer/T-cell lymphoma (CIVNKTC). Methods Clinical data on five cases of CIVNKTC were collected. The histopathological feature, treatment and prognosis of CIVNKTC were retrospectively analyzed and discussed. Results Of the 5 patients, 1 was male and 4 were female. The age of onset ranged from 38 to 83 years (average, 56.2 years). All the patients presented with multiple plaques and nodules as the primary symptoms. Histopathological examination revealed vasodilatation in the dermis and subcutaneous tissue, as well as atypical lymphoid cells with large hyperchromatic nuclei containing 1-2 small nucleoli in dilated veins. Immunohistochemical studies of tumor cells showed positive staining for CD3ε, cytotoxic proteins (including T cell-restricted intracellular antigen-1, granzyme B and perforin)and Epstein-Barr virus(EBV)-encoded microRNA, but negative staining for cytokeratin, CD20, CD79a, CD4 and CD8. Furthermore, the tumor cells stained positive for CD56 in two patients. Among the 5 patients, only 2 received chemotherapy and the remaining received no treatment. During a 24-month follow-up, 4 patients died, and only 1 survived with the tumor. Conclusion CIVNKTC is a rare extranodal Hodgkin′s lymphoma with distinct histologic manifestations and immunophenotypes, rapid and aggressive clinical course, and poor prognosis.

Linfoma primario de pulmón: serie de casos / Primary pulmonary lymphoma: a case serie

Primary Pulmonary Lymphomas (LPP) are infrequent and their clinical manifestations and images are usually non specific. Diagnostic delay may be important. The objective of this study was to analyze the LLP in our institution. Between 2003 and 2013, over 1,892 lymphomas were analyzed in our institution. Only 4 of them (0.21 percent incidence) were detected as LPP: Non Hodgkin's Lymphoma (n = 2), Hodgkin's Lymphoma (n = 1), and Intravascular Pulmonary Lymphoma (n = 1). Clinical manifestations of the 4 cases presented were unspecific: 1) pulmonary mass and pleural effusion; 2) consolidation with air bronchogram and cavitations; 3) normal images and 4) pulmonary mass. Given these clinical settings, 4 diagnostic methods were used: 1) Computed Tomography-Guided Puncture, 2) Video-Assisted Thoracoscopic Surgery (VATS); 3) VATS guided by positron emission tomography (PET) and 4) thoracotomy. Hence, diagnosis was successfully made between 45 to 90 days from the initial consultation. This report confirms the low incidence of LPP, and its unspecific clinical and radiographic manifestations that may cause delay in diagnosis. PET can contribute to improve diagnostic performance, especially in patients without apparent lung involvement.

Los linfomas primarios de pulmón (LPP) son infrecuentes. Sus manifestaciones clínicas y las imágenes son inespecíficas. El retraso diagnóstico puede ser considerable. Objetivo: Analizar los LPP durante el período 2003-2013 en nuestra institución. Sobre 1892 linfomas, 4 fueron LPP (0,21 por ciento): 1) linfoma no Hodgkin (n = 2); 2) linfoma Hodgkin (n= 1); 3) linfoma intravascular pulmonar (n = 1). Las manifestaciones clínicas y radiológicas fueron inespecíficas (masa pulmonar y derrame pleural, consolidación con broncograma aéreo y cavitación o bien ausencia de lesiones). Los métodos diagnósticos fueron: 1) punción guiada bajo TAC; 2) videotoracoscopía (VATS) y 3) VATS orientada por PET (tomografia por emisión de positrones) y 4) toracotomía. El tiempo entre la consulta inicial hasta el diagnóstico fue de 45 a 90 días. Este reporte confirma la baja incidencia de LPP, y sus manifestaciones clínicas y radiologías poco específicas. Esto puede contribuir a las demoras en el diagnóstico. El PET puede mejorar el rendimiento diagnóstico, en especial en ausencia de compromiso pulmonar radiológico evidente.

Unusual Manifestation of Intravascular Large B-Cell Lymphoma: Severe Hypercalcemia with Parathyroid Hormone-Related Protein / Journal of the Korean Cancer Association, 대한암학회지

Intravascular large B-cell lymphoma (IVLBCL) is a rare subtype of non-Hodgkin lymphoma. It usually presents with nonspecific symptoms, such as fever, rather than with overt lymphadenopathy. Reports of hypercalcemia, as the initial presentation of IVLBCL, are limited in the literature, despite it being a well-known complication of various solid cancers. We present a 68-year-old male with severe hypercalcemia and increased levels of serum parathyroid hormone-related protein. He was diagnosed with IVLBCL, involving the bone marrow and spleen, and was successfully treated with rituximab-containing chemotherapy. A few previous case reports have shown hypercalcemia in patients with IVLBCL. Much like our case, previous cases with hypercalcemia had advanced diseases, including bone marrow invasion. Although it was an extremely rare manifestation of IVLBCL, we suggest that IVLBCL should be a part of the differential diagnosis in patients with unexplained hypercalcemia. Therefore, an active work-up might be recommended, including positron emission tomography/computed tomography scan and bone marrow examination, which may be useful for early diagnosis.

Relapsed Intravascular Large B-cell Lymphoma in the Lungs

Intravascular lymphoma (IVL) is a rare form of non-Hodgkin's lymphoma that is characterized by the preferential growth of malignant lymphocytes within blood vessels. Pulmonary presentation of IVL is uncommon, and only a few cases have been reported in Korea. Here, we report on a 59-year-old woman with relapsed intravascular large B-cell lymphoma in the lungs. She had been treated with 6 cycles of rituximab, cyclophosphamide, adriamycin, vincristine, and prednisolone (R-CHOP) combination chemotherapy for intravascular large B-cell lymphoma in the nasal cavity, and was followed up regularly with no evidence of disease recurrence. About 1 year later, her chest computed tomography showed extensive ground-glass opacity, suggesting interstitial lung disease and, interestingly, diffuse pulmonary fluorodeoxyglucose (FDG) uptake was observed in positron emission tomography (PET). We performed bronchoscopy, bronchoalveolar lavage, and transbronchial lung biopsy. Pathology revealed relapsed intravascular large B-cell lymphoma in the lungs, and she commenced ifosfamide, methotrexate, etoposide, prednisolone (IMVP-16/PD) salvage chemotherapy. After 3 cycles of chemotherapy, PET showed no abnormal FDG uptake. We suggest that a primary or relapsed pulmonary IVL should be considered in the differential diagnosis of unexplained interstitial lung disease and that PET appears be useful in evaluating pulmonary IVL.

Intravascular lymphoma of the inferior turbinate: An unusual rhinologic presentation of a rare neoplasm

Objective: To present a unique case of intravascular lymphoma of the inferior turbinate because of its rarity, unusual clinical presentation and difficulty in establishing a diagnosis. Design: Case Report Setting: A tertiary hospital Patient: A 66-year-old male admitted to the hospital due to intermittent high grade fever of six months duration. Result: The patient presented with fever of unknown origin, and exhaustive laboratory, ancillary procedures and biopsies to rule in/out infectious, autoimmune and oncologic causes were performed to arrive at a diagnosis. Nasal endoscopy revealed an enlarged, hypertrophied and violaceous right inferior turbinate with watery to mucoid discharge and septal deviation to the right confirmed by CT scans of the paranasal sinuses. Functional Endoscopic Sinus Surgery (FESS), septoplasty and turbinoplasty with biopsy revealed intravascular lymphoma. Chemotherapy was deferred due to the deteriorating medical condition and the patient expired seven months after the initial onset of symptoms. Conclusion: Patients who present with fever of unknown origin should undergo a thorough otorhinolaryngologic examination to exclude primary ENT conditions and ensure proper management. Given its rarity and multiplicity of presentation, it is extremely difficult to make a diagnosis of intravascular lymphoma. A high index of suspicion of intravascular lymphoma is necessary so that timely acquisition of tissue biopsy of any lesion involved will make a definite diagnosis. (Author)