RESUMO
Morphological dysplasia in haematopoietic cells, defined by a 10% threshold in each lineage, is one of the diagnostic criteria for myelodysplastic neoplasms. Dysplasia limited to the erythroid lineage has also been reported in some cases of aplastic anaemia (AA); however, its significance remains unclear. We herein examined the impact of erythroid dysplasia on immunosuppressive therapy responses and survival in AA patients. The present study included 100 eligible AA patients without ring sideroblasts. Among them, 32 had dysplasia in the erythroid lineage (AA with minimal dysplasia [mini-D]). No significant sex or age differences were observed between AA groups with and without erythroid dysplasia. In severe/very severe AA and non-severe AA patients, a response to anti-thymocyte globulin + ciclosporin within 12 months was observed in 80.0% and 60.0% of AA with mini-D and 42.9% and 90.0% of those without dysplasia, with no significant difference (p = 0.29 and p = 0.24 respectively). Overall survival and leukaemia-free survival did not significantly differ between the groups. Collectively, the present results indicate that the presence of erythroid dysplasia did not significantly affect clinical characteristics or outcomes in AA patients, suggesting that its presence in AA is acceptable. Therefore, erythroid dysplasia should not exclude an AA diagnosis.
Assuntos
Anemia Aplástica , Sistema de Registros , Humanos , Anemia Aplástica/mortalidade , Anemia Aplástica/patologia , Anemia Aplástica/tratamento farmacológico , Feminino , Masculino , Pessoa de Meia-Idade , Adulto , Idoso , Adulto Jovem , Células Eritroides/patologia , Adolescente , Idoso de 80 Anos ou maisRESUMO
We present a case of thoracic SMARCA4-deficient undifferentiated tumor that needed to be differentiated from malignant lymphoma owing to multiple lymph node swelling and marrow involvement. A 52-year-old man developed multiple lymphadenopathies along with anorexia, general fatigue, fever, and sweating 2 months prior to admission. 18F-fluorodeoxyglucose positron emission tomography/computed tomography (PET/CT) scan revealed a mass lesion on the right upper lung, generalized lymph node swelling, and bone metastasis, indicating the presence of suspicious lung cancer; therefore, he was referred to our hospital. Malignant lymphoma was suspected at the time of admission because of elevated levels of lactate dehydrogenase (11,977 U/l) and soluble interleukin 2 receptor (2,152 U/ml) as well as marrow infiltration of large abnormal cells. On day 11, the patient died from rapid respiratory failure. Histological and immunohistochemical features of the pleural effusion cell block led to the diagnosis of thoracic SMARCA4-deficient undifferentiated tumor. Thoracic SMARCA4-deficient undifferentiated tumor was recently introduced in the 2021 World Health Organization classification of lung tumors, with most patients being young adults with a history of heavy smoking and poor prognosis. Because of the multiple lymph node swelling and marrow involvement, this undifferentiated tumor should be distinguished from malignant lymphoma.
Assuntos
Linfoma , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Humanos , Masculino , Pessoa de Meia-Idade , Biomarcadores Tumorais , DNA Helicases , Fluordesoxiglucose F18 , Linfoma/diagnóstico , Proteínas Nucleares , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Fatores de TranscriçãoRESUMO
The histological diagnosis of peripheral T-cell lymphomas (PTCLs) is often challenging. Flow cytometry (FCM) sometimes shows the loss of pan-T-cell markers for PTCLs, suggesting the neoplastic nature of these cells. Immunohistochemically, the total loss of pan-T-cell markers has been demonstrated in PTCLs. Furthermore, except for the total loss, the aberrant immunohistochemical expressions of pan-T-cell markers have also been empirically observed in PTCLs, but the details remain unexamined. Therefore, the present study semi-quantitatively evaluated the aberrant expression of cytoplasmic CD3ε (cCD3ε), the most common immunohistochemical pan-T-cell marker, in 91 PTCL cases. The expressions of the other CD3 molecules, CD3δ, CD3γ, and CD3ζ were also examined. Frequencies of the total immunohistochemical loss of CD3 molecules and loss of surface CD3ε (sCD3ε) in FCM were analyzed for comparison. The results showed atypical, aberrant expression patterns for immunohistochemical CD3 molecules: perinuclear, cytoplasmic, membranous, and partial negative. The frequency of each molecule was as follows: cCD3ε 40.7 %, CD3δ 26.4 %, CD3γ 53.8 %, and CD3ζ 54.9 %, especially the latter two showed high frequency in peripheral T-cell lymphoma, not otherwise specified, angioimmunoblastic T-cell lymphoma, and adult T-cell lymphoma/leukemia. Immunohistochemical total loss was less than aberrant expression in all CD3 molecules, with the frequency of cCD3ε being the lowest (6.6 %). The loss of sCD3ε in FCM was observed in 43.3 % of cases, with a similar frequency to the aberrant expression of cCD3ε. In conclusion, the aberrant immunohistochemical expression of cCD3ε was a useful finding as is sCD3ε loss in FCM, but CD3γ and CD3ζ were more useful, facilitating the diagnosis of PTCLs.
Assuntos
Linfoma de Células T Periférico , Adulto , Citometria de Fluxo , Humanos , Linfoma de Células T Periférico/diagnósticoRESUMO
Myelodysplastic syndromes/myeloproliferative neoplasm (MDS/MPN) is a type of myeloid neoplasm where at least one hematopoietic lineage exhibiting cytopenia clinically coexists with other (s) exhibiting hypercytosis. There is ineffective erythropoiesis and bone marrow coexistence of at least one hematopoietic lineage morphologically characterized by dysplasia of blood cells and other (s) characterized by pronounced proliferation. At a molecular level, various abnormalities have been identified that overlap with related diseases, and a prerequisite for MDS/MPN diagnosis includes ruling out various hematopoietic tumors and reactive conditions. Therefore, a multilateral approach involving clinical findings, morphology, and molecular biology is needed. Herein, we introduce the pathological features of MDS/MPN and the relationship between molecular abnormalities and morphological characteristics.
Assuntos
Neoplasias Hematológicas/patologia , Doenças Mieloproliferativas-Mielodisplásicas/patologia , Medula Óssea/patologia , Eritropoese , HumanosRESUMO
BACKGROUND: Eosinophilic esophagitis (EoE) is related to allergic diseases such as bronchial asthma (BA), atopic dermatitis, and allergic rhinitis. The aim of this study was to examine the eosinophil infiltration in the upper gastrointestinal (GI) tract in patients with BA using esophagogastroduodenoscopy. METHODS: Patients with BA who had upper GI tract symptoms were enrolled. Patients who received systemically administered steroids were excluded. Eosinophil infiltrations in the esophagus, stomach, and duodenum were examined with regard to the endoscopic findings and pathological findings of biopsy specimens (UMIN000010132). RESULTS: Ninety patients were enrolled from October in 2012 to September in 2014. Thirty-six were male, 54 were female, and the mean age was 57.5 years. Eighty-one (90%) used inhaled corticosteroids. Fourteen patients (15.6%) had reflux esophagitis, 8 of whom had grade A and 6 had grade B. No patient with EoE was observed. One female patient who had marked eosinophil infiltration in the esophagus, stomach, and duodenum was diagnosed as having eosinophilic gastroenteritis, but endoscopy showed only mucosal edema in the antrum. Another female patient who had marked eosinophil infiltration in the esophagus, stomach, and duodenum was diagnosed as having eosinophilic granulomatosis with polyangiitis, and endoscopy showed erosions in the antrum and the duodenum. Three patients had eosinophil infiltration in the stomach, but none of them had severe symptoms. CONCLUSIONS: Patients with asthma who had upper gastrointestinal symptoms rarely had eosinophilic gastrointestinal disorders. Biopsy specimens are of high importance in the diagnosis of eosinophilic gastrointestinal disorders even if there is no remarkable endoscopic finding.
Assuntos
Asma/patologia , Eosinófilos/patologia , Trato Gastrointestinal Superior/patologia , Adolescente , Adulto , Idoso , Asma/complicações , Edema/patologia , Endoscopia Gastrointestinal , Enterite/complicações , Enterite/patologia , Eosinofilia/complicações , Eosinofilia/patologia , Esofagite Eosinofílica/complicações , Esofagite Eosinofílica/patologia , Feminino , Gastrite/complicações , Gastrite/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Mucosa/patologia , Adulto JovemRESUMO
AIM: To evaluate whether the presence of amniotic components in the maternal uterine vasculature could be a specific pathological indicator for amniotic fluid embolism (AFE). METHODS: Medical records of patients treated between January 2006 and March 2013 were retrospectively examined to identify patients who underwent post-partum hysterectomy or autopsy due to maternal death. Three subjects with AFE with disseminated intravascular coagulation (DIC)-type post-partum hemorrhage (PPH), and 13 non-AFE subjects were included in analysis. Histochemical staining using hematoxylin-eosin (HE) and alcian blue, and immunohistochemical staining for sialyl-Tn were conducted to detect amniotic components in the maternal uterine vasculature. RESULTS: Alcian blue was positive for amniotic components in the uterine vasculature of all subjects with AFE and of several subjects without AFE. Similarly, HE and sialyl-Tn were negative in some AFE subjects and positive in some non-AFE subjects. CONCLUSIONS: The presence of maternal intravascular fetal material is not a specific indicator for AFE with DIC-type PPH. Therefore, the presence of fetal components in the uterine vasculature is unlikely to be a definitive indicator for AFE.
Assuntos
Líquido Amniótico/química , Embolia Amniótica/sangue , Útero/irrigação sanguínea , Antígenos Glicosídicos Associados a Tumores/sangue , Antígenos Glicosídicos Associados a Tumores/química , Biomarcadores/sangue , Coagulação Intravascular Disseminada/etiologia , Embolia Amniótica/fisiopatologia , Feminino , Hospitais Universitários , Humanos , Japão , Hemorragia Pós-Parto/etiologia , Gravidez , Reprodutibilidade dos Testes , Estudos Retrospectivos , Útero/químicaRESUMO
Ocular adnexal marginal zone B-cell lymphoma (OAMZL) of the mucosa-associated lymphoid tissue is a distinct subtype of B-cell lymphoma. OAMZL occasionally occurs on both sides with a varied sequence in the time course. However, few case reports have described clonal analysis of bilateral OAMZ. Here we present a case of biclonal OAMZL, that developed bilaterally at a 2-year interval. A 38-year-old woman was diagnosed with OAMZL in the right lower eyelid conjunctiva and received local radiation therapy, resulting in the disappearance of the tumor. Two years later, she developed another tumor in the left lower eyelid and was diagnosed with relapse of OAMZL. She was re-treated successfully with radiation therapy. Analysis of immunoglobulin (Ig) gene rearrangement in the bilateral tumor samples showed different clonotypic VDJ recombination within the Ig heavy chain gene and different patterns of rearrangement of the Ig light chain genes. The results indicated that independent B-cell clones causing the specific subtype of lymphoma had generated in both eyes. The biclonal nature of the lymphoma that developed sequentially in the same anatomic site in this case suggests that underlying inherent or environmental factors may lead to ongoing emergence of new tumor clones.
RESUMO
The coincidence of acute T-lymphoblastic leukemia/lymphoma, NOS (T-ALL/LBL), and peripheral T-cell lymphoma (PTCL) is unusual, and there have only been a few cases of their metachronous occurrence. In these cases, PTCLs emerged as recurrence after primary therapy for primary T-ALL, were the rare gamma/delta type, and uncommonly involved skin for T-ALL/LBL. We herein report the first case of de novo T-LBL that coincided with cutaneous gamma/delta PTCL before primary therapy. A 70-year-old man presented with systemic lymphadenopathy. Lymph node biopsy revealed a massive proliferation of lymphoblastoid cells; immunohistochemically, they were positive for TdT/CD1a/CD99, and cytoplasmic CD3ε, CD4, and CD8 and were negative for T-cell receptor (TCR) ßf-1. A few TCRδ-positive cells were intermingled. Atypically, TIA was focally positive, whereas granzyme/perforin was negative. Multiple papules and plaques emerged on the trunk before the initiation of treatment for T-LBL. Skin biopsy revealed a massive proliferation of medium-to-large atypical lymphoid cells that were TdT/CD1a-negative mature T-cells; they were negative for TCRßf1 and CD4, and positive for TCRδ, CD5, CD8, CD56, TIA, granzyme B, and perforin. A conventional PCR analysis of TCRG showed no identical clonal band between the two tumors. The skin lesion was diagnosed as cutaneous gamma/delta T-cell lymphoma. Whether the lesion was primary or a transformation of T-LBL was unclear. After treating with reduced hyper-CVAD/MA targeting T-LBL, molecular complete remission was achieved. When an uncommon cutaneous lesion emerges in the course of T-ALL/LBL, both need to be evaluated pathologically and genetically, whether de novo or recurrent, assuming the possibility of coincident gamma/delta PTCL.
Assuntos
Linfoma de Células T Periférico , Leucemia-Linfoma Linfoblástico de Células Precursoras , Leucemia-Linfoma Linfoblástico de Células T Precursoras , Masculino , Humanos , Idoso , Linfoma de Células T Periférico/patologia , Perforina , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , Linfócitos T/patologiaRESUMO
Endometrial cancer is the most common malignancy of the female genital tract and is associated with poor prognosis. It is primarily a hormone-dependent cancer that is regulated by steroid hormones, including estrogen and progesterone. Forkhead box A1 (FOXA1) is a member of the forkhead box transcription factor family and functions as a pioneer factor in estrogen receptor (ER)-positive breast cancer. In the present study, we investigated the expression of FOXA1 in endometrial cancers by immunohistochemical analysis. Nuclear immunoreactivity for FOXA1 was detected in 40 of 109 cases (37%), and was found to be negatively associated with lymph node status (P = 0.033). In ER-positive Ishikawa endometrial cancer cells, small interfering RNA-mediated downregulation of FOXA1 promoted cell proliferation and migration. Furthermore, exogenously introduced FOXA1 suppressed both proliferation and migration of Ishikawa cells. These results suggest that FOXA1 functions as a tumor suppressor through modulation of proliferation and migration of endometrial cancer cells.
Assuntos
Neoplasias do Endométrio/metabolismo , Fator 3-alfa Nuclear de Hepatócito/metabolismo , Linhagem Celular Tumoral , Movimento Celular , Proliferação de Células , Neoplasias do Endométrio/genética , Feminino , Técnicas de Silenciamento de Genes , Fator 3-alfa Nuclear de Hepatócito/genética , Humanos , Linfonodos/patologia , Pessoa de Meia-Idade , PrognósticoRESUMO
In a previous study, we developed five kinds of monoclonal antibodies against different portions of human mEH: three, anti-N-terminal; one, anti-C-terminal; one, anti-conformational epitope. Using them, we stained the intact and the permeabilized human cells of various kinds and performed flow cytometric analysis. Primary hepatocytes and peripheral blood mononuclear cells (PBMC) showed remarkable differences. On the surface, hepatocytes exhibited 4 out of 5 epitopes whereas PBMC did not show any of the epitopes. mEH was detected inside both cell types, but the most prominent expression was observed for the conformational epitope in the hepatocytes and the two N-terminal epitopes in PBMC. These differences were also observed between hepatocyte-derived cell lines and mononuclear cell-derived cell lines. In addition, among each group, there were several differences which may be related to the cultivation, the degree of differentiation, or the original cell subsets. We also noted that two glioblastoma cell lines reveal marked expression of the conformational epitope on the surface which seemed to correlate with the brain tumor-associated antigen reported elsewhere. Several cell lines also underwent selective permeabilization before flow cytometric analysis, and we noticed that the topological orientation of mEH on the ER membrane in those cells was in accordance with the previous report. However, the orientation on the cell surface was inconsistent with the report and had a great variation between the cells. These findings show the multiple mode of expression of mEH which may be possibly related to the multiple roles that mEH plays in different cells.
Assuntos
Anticorpos Monoclonais/imunologia , Epóxido Hidrolases/imunologia , Citometria de Fluxo/métodos , Regulação Enzimológica da Expressão Gênica , Adulto , Idoso , Linhagem Celular , Linhagem Celular Tumoral , Epitopos , Epóxido Hidrolases/genética , Feminino , Glioblastoma/enzimologia , Glioblastoma/imunologia , Hepatócitos/enzimologia , Hepatócitos/imunologia , Humanos , Leucócitos Mononucleares/enzimologia , Leucócitos Mononucleares/imunologia , Masculino , Pessoa de Meia-IdadeRESUMO
Bendamustine is now recognized as a key drug for indolent B-cell lymphoma (iBCL), mantle cell lymphoma (MCL) and chronic lymphocytic leukemia (CLL). Skin toxicity associated with bendamustine is one of the characteristic adverse effects. We retrospectively examined the relationship between bendamustine-associated drug rashes and disease prognosis of iBCL and MCL at our institution. Between January 2011 and August 2019, 65 patients (39 men and 26 women, median age 68, range 41-84 years) were treated with bendamustine alone (n=11, 120 mg/m2 on days 1 and 2) or a combination of rituximab and bendamustine (n=54, 90 mg/m2 on days 1 and 2). Of these patients, 47 had follicular lymphoma (FL), 10 had MCL and 8 had other iBCLs. Drug rash occurred in 27 (41.5%). Eight cases (29.6%) were grade 1, 5 (18.5%) were grade 2 and 14 (51.9%) were grade 3. The onset was in the first course in 17 (63.0%), 2nd course in 5 (18.5%), 3rd course in 2 (7.4%), 4th course in 1 (3.7%) and 5th course in 2 (7.4%). No treatment was administered in 1 case (3.7%), topical steroid was applied in 10 (37.0%), antiallergic drug was administered in 2 (7.4%), topical steroid and antiallergic drug were administered in 5 (18.5%), and oral and topical steroid and antiallergic drug were administered in 9 (33.3%). The 3-year progression-free survival (PFS) and overall survival (OS) in patients with rash development were 80.0% and 85.5%, respectively, and those in patients without development were 36.4% and 54.0%, respectively (p=0.009 and 0.02, respectively). By multivariate analysis, the development of rash was associated with a better PFS and a diagnosis of iBCL was associated with a better OS. This study revealed that bendamustine-induced rash is associated with a favorable prognosis among patients with iBCL.
Assuntos
Exantema , Linfoma de Células B , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Cloridrato de Bendamustina/efeitos adversos , Exantema/induzido quimicamente , Exantema/tratamento farmacológico , Feminino , Humanos , Linfoma de Células B/patologia , Prognóstico , Estudos Retrospectivos , RituximabRESUMO
We present the case of a 56-year-old male patient with paravertebral extramedullary hematopoiesis (EMH) secondary to myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia. In a routine health checkup over 5 years prior, he presented with asymptomatic mild anemia and a posterior mediastinal mass. Pathological and cytomorphological findings of the resected paravertebral mass were similar to those of his bone marrow specimen, and included cellularity with erythroid hyperplasia, multilineage dysplastic changes, and the presence of ring sideroblasts. A concordant SF3B1 mutation was detected in both bone marrow and paravertebral mass samples, suggesting that the EMH cells were derived from the bone marrow.
Assuntos
Hematopoese Extramedular , Síndromes Mielodisplásicas , Hematopoese Extramedular/genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Síndromes Mielodisplásicas/genética , Síndromes Mielodisplásicas/patologia , Fosfoproteínas/genética , Fatores de Processamento de RNA/genéticaRESUMO
For hematopoietic stem cell transplantation to be successful, complications must be managed. Graft-versus-host disease is particularly important, but various other complications, treatment side effects, and relapse of primary disease may also occur. We report an autopsy case of juvenile myelomonocytic leukemia with a blastic crisis, in which activated and recovered autologous macrophage-related complications after cord blood transplantation caused the patient's death. Pathological analysis of autopsy specimens revealed diffuse infiltration of mature macrophages into the skin but scarce lymphocytes. These macrophages were found in the bone marrow interspersed with a small number of blasts that had previously occupied about 60% of the bone marrow before death. The direct cause of death was an opportunistic airway infection due to bone marrow and immune failures triggered by overactivation and proliferation of macrophages. Genetic analysis showed the activated macrophages were autologous. Together these findings indicate that the patient died from macrophage-mediated complications, but not from a blastic crisis or conventional graft-versus-host disease. When macrophage activation persists after hematopoietic stem cell transplantation, macrophage-mediated complications should be considered as a differential diagnosis. To manage this complication, pathology specimens should be examined to check for the presence of effector cells at an early stage.
Assuntos
Crise Blástica/patologia , Doença Enxerto-Hospedeiro/diagnóstico , Doença Enxerto-Hospedeiro/etiologia , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Leucemia Mielomonocítica Juvenil/complicações , Macrófagos/patologia , Autopsia , Biópsia , Medula Óssea/patologia , Pré-Escolar , Evolução Fatal , Humanos , Imuno-Histoquímica , Leucemia Mielomonocítica Juvenil/diagnóstico , Leucemia Mielomonocítica Juvenil/terapia , MasculinoRESUMO
We present a case of granulomatous interstitial nephritis (GIN) associated with chronic lymphocytic leukaemia (CLL). GIN is a rare pathological finding noted in renal biopsy specimens. Furthermore, CLL does not usually cause GIN. In this case, acute renal injury probably resulted from GIN, and urgent dialysis was required, despite sufficient chemotherapy. Immunohistochemical analyses of a biopsy specimen revealed invasion of CD20( +) CLL cells, surrounded by reactive T cells, and granuloma formation. Thus, CLL may induce secondary interstitial nephritis as a granulomatous reaction.
Assuntos
Leucemia Linfocítica Crônica de Células B/complicações , Nefrite Intersticial/diagnóstico , Nefrite Intersticial/etiologia , Injúria Renal Aguda/etiologia , Injúria Renal Aguda/terapia , Complexo CD3/metabolismo , Antígenos CD5/metabolismo , Movimento Celular , Humanos , Leucemia Linfocítica Crônica de Células B/patologia , Masculino , Pessoa de Meia-Idade , Nefrite Intersticial/complicações , Diálise Renal , Linfócitos T/imunologia , Linfócitos T/patologiaRESUMO
We report a patient with hairy cell leukemia Japanese variant (HCL-Jv) that developed after radiotherapy for orbital adnexal MALT lymphoma. A 78-year-old man was diagnosed as having MALT lymphoma in the left conjunctiva in December 2003. The patient was treated by local radiotherapy and the tumor disappeared. Thereafter, he gradually developed leukocytosis and mild splenomegaly. In May 2009, the leukocyte count was 34,300 with 80% lymphoid cells. A diagnosis of HCL-Jv was made since the lymphoid cells showed a hairy morphology with round nuclei and indistinct nucleoli. These cells expressed CD11c, CD19, CD20, CD103 and showed weak reaction for tartrate-resistant acid phosphatase (TRAP). Bone marrow was infiltrated by atypical cells with an intrasinusoidal pattern. No treatment was needed as the patient was asymptomatic without anemia, thrombocytopenia or lymphadenopathy. Results of the immunoglobulin light chain expression and the heavy chain rearrangement in the tumor cells indicated that the two mature B-lymphoid neoplasms, MALT lymphoma and HCL-Jv, in this patient were derived from independent clones. This appears to be the first reported case of HCL-Jv associated with other lymphoid tumor. Further analysis is needed to clarify the risk of secondary malignancy in HCL-Jv.
Assuntos
Neoplasias da Túnica Conjuntiva/radioterapia , Leucemia de Células Pilosas/diagnóstico , Linfoma de Zona Marginal Tipo Células B/radioterapia , Segunda Neoplasia Primária , Idoso , Neoplasias da Túnica Conjuntiva/etiologia , Neoplasias da Túnica Conjuntiva/patologia , Humanos , Imunidade Celular , Leucemia de Células Pilosas/imunologia , Leucemia de Células Pilosas/patologia , Linfoma de Zona Marginal Tipo Células B/etiologia , Linfoma de Zona Marginal Tipo Células B/patologia , MasculinoRESUMO
A 49-year-old man complained of chronic palpitation and shortness of breath, which had recently become exacerbated. A blood examination indicated severe refractory anemia and hypoproteinemia. Physical examinations revealed anemia, a systolic murmur, and spoon nails. Multiple nonspecific ileal ulcers were observed. A pathological examination indicated a small granuloma with CD68-positive histiocytes. He had a deeply wrinkled forehead, chiseled face, and clubbed fingers. Radiography revealed periostosis of the fingers and long bones in the limb. He was diagnosed with pachydermoperiostosis. SLCO2A1 demonstrated a c.1807C>T homo-mutation. He was also diagnosed with SLCO2A1-associated chronic enteropathy and thus was treated with 5-aminosalicylic acid, which temporarily improved the ileal ulcers, anemia, and hypoalbuminemia.
Assuntos
Doenças Inflamatórias Intestinais , Transportadores de Ânions Orgânicos , Osteoartropatia Hipertrófica Primária , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Transportadores de Ânions Orgânicos/genética , Osteoartropatia Hipertrófica Primária/diagnóstico , Osteoartropatia Hipertrófica Primária/genética , ÚlceraRESUMO
We report a follicular lymphoma (FL) case presenting the coexistence of two tumor cell subpopulations in lymph node (LN) and bone marrow (BM), which exhibited an inverse pattern of immunoglobulin light (IgL) chain gene rearrangement and expression: Igkappa-lambda+ in LN and Igkappa+lambda- in BM. These tumor clones shared an identical BCL2-IgH recombination, accompanying t(14;18)(q32;q21) translocation, and an identical variable, diversity and joining segments joining with clone-specific VH somatic hypermutations on the untranslocated IgH allele. Our study provides further evidence that FL clones, originating from common progenitor cells, can be developed independently at different sites and with different IgL expression after immune selection.
Assuntos
Medula Óssea/patologia , Linfoma Folicular/patologia , Linhagem da Célula , Células Clonais/patologia , Feminino , Genes de Cadeia Leve de Imunoglobulina , Humanos , Pessoa de Meia-IdadeRESUMO
Intravascular large B-cell lymphoma (IVLBCL) is a rare type of extranodal large B-cell lymphoma, and initial or predominant presentation in the lungs is uncommon. The synchronous occurrence of IVLBCL and malignant tumors is less frequent, and no such reports have described pulmonary presentations. We report a rare case of pulmonary IVLBCL accompanying lung cancer and interstitial lesions. A 73-year-old man with a history of pneumonia underwent a follow-up examination. Computed tomography revealed diffuse, bilateral ground-glass opacities (GGO) with a partial solid mass. Histologically, the mass consisted of adenocarcinoma. However, two other types of interstitial lesions were scattered throughout the resected lung: 1) peribronchovascular thickening with the aggregation of macrophages and anthracosis, and 2) alveolar septal thickening in the centrilobular area with atypical CD20-positive large cells in the capillaries. These two types of lesions were not mixed. Computed tomography and positron emission tomography demonstrated no other organ involvement. The patient was considered to have the synchronous occurrence of pulmonary IVLBCL and lung cancer (adenocarcinoma). After R-CHOP therapy, GGO on CT disappeared. Lung cancer often accompanies benign background lesions, and the combination of these lesions with lung cancer may make it difficult to detect the presence of pulmonary IVLBCL. However, the histological distribution pattern of IVLBCL may be a clue to the correct diagnosis.
Assuntos
Adenocarcinoma de Pulmão , Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Neoplasias Intestinais , Neoplasias Pulmonares , Linfoma Difuso de Grandes Células B , Segunda Neoplasia Primária , Tomografia por Emissão de Pósitrons , Tomografia Computadorizada por Raios X , Adenocarcinoma de Pulmão/diagnóstico por imagem , Adenocarcinoma de Pulmão/tratamento farmacológico , Adenocarcinoma de Pulmão/patologia , Idoso , Ciclofosfamida/administração & dosagem , Doxorrubicina/administração & dosagem , Humanos , Neoplasias Intestinais/diagnóstico por imagem , Neoplasias Intestinais/tratamento farmacológico , Neoplasias Intestinais/patologia , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/patologia , Linfoma Difuso de Grandes Células B/diagnóstico por imagem , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Linfoma Difuso de Grandes Células B/patologia , Masculino , Segunda Neoplasia Primária/diagnóstico por imagem , Segunda Neoplasia Primária/tratamento farmacológico , Segunda Neoplasia Primária/patologia , Prednisona/administração & dosagem , Rituximab/administração & dosagem , Vincristina/administração & dosagemRESUMO
The cancer stroma serves an important role in tumour behaviours, including invasion, metastasis, and response to chemotherapy. The stroma of ovarian carcinoma is sometimes specialized, with luteinisation and/or hyperthecosis, and is designated as the 'functioning stroma' because it exerts endocrine function and produces sex steroid hormones. In the present study, 14 ovarian cancers with functioning stroma, comprising 7 endometrioid carcinomas and 7 clear cell carcinomas, were analysed to evaluate the molecular association of the functioning stroma with carcinoma cells. The median age of the patients was 67 years (range, 52-85 years); 13 patients were postmenopausal, and one was in perimenopause. Serum oestrogen values ranged from 10 to 129 ng/ml, with a median of 51 ng/ml. Sequence abnormalities in AT-rich interaction domain 1A (ARID1A), phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit α (PIK3CA), Kirsten rat sarcoma viral proto-oncogene (KRAS) and phosphatase and tensin homolog (PTEN) were examined in whole tumours. For cancers positive for sequence abnormalities, their localization in carcinoma cells and/or stromal cells was examined. A total of 8 mutations - ARID1A (L2155L), PIK3CA (H1047R), KRAS (Q12V, E31K, Q61L), and PTEN (C105fs*8) - were identified in the whole tumours of 5 patients. Seven of these eight mutations were detected only in carcinoma cells. However, one case of endometrioid carcinoma had a KRAS (E31K) mutation in both carcinoma and stromal cells. In conclusion, although functioning stromal cells of ovarian cancer are usually thought to be non-neoplastic, some may share an origin with carcinoma cells.