Local ALK-Positive Histiocytosis With Unusual Morphology and Novel TRIM33-ALK Gene Fusion

2020 ◽  
pp. 106689692097686
Author(s):  
Tien Anh N. Tran ◽  
Kenneth Tou En Chang ◽  
Chik Hong Kuick ◽  
Jian Yuan Goh ◽  
Chung-Che Chang
Keyword(s):  
Gene Fusion ◽  
Medical Literature ◽  
Plasma Cells ◽  
Clinical Presentation ◽  
Current Case ◽  
Young Infants ◽  
Large Vein ◽  
Alk Positive ◽  
Exon 20 ◽  
Inflammatory Component

ALK-positive histiocytosis was first described in 2008 as a systemic histiocytic disorder involving young infants and neonates. Subsequently, cases of local ALK-positive histiocytosis as well as clinical presentation in adult patients have been increasingly reported in the literature. The current case documented the hitherto largest local ALK-positive histiocytosis lesion involving the mesentery of a 20-year-old female patient, a clinical presentation that has not been previously reported in the medical literature. Of note was the presence of numerous lymphocytes, plasma cells, and eosinophils as well as the formation of lymphoid follicles in the lesion, mimicking an inflammatory myofibroblastic tumor. Other unique histologic aspects of the current case included the nested arrangement of the histiocytes, intravascular extension of the histiocytic proliferation into a large vein, and tumor necrosis. Notably, molecular studies revealed a novel TRIM33 (exon 12) -ALK (exon 20) gene fusion. Therefore, ALK-positive histiocytosis with TRIM33-ALK gene fusion expands the clinical, histologic, and molecular spectrum of local ALK-positive histiocytosis. Since ALK-positive histiocytosis associated with a significant inflammatory component can pose considerable diagnostic challenges, increased awareness of this peculiar variant of ALK-positive histiocytosis is essential to minimize the risk of misdiagnosis.

CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY

PEDIATRICS ◽  
1972 ◽  
Vol 49 (6) ◽  
pp. 847-853
Author(s):  
I. Antonowicz ◽  
J. D. Lloyd-Still ◽  
K. T. Khaw ◽  
H. Shwachman
Keyword(s):  
Growth And Development ◽  
Clinical Presentation ◽  
Quantitative Estimation ◽  
Failure To Thrive ◽  
Normal Growth ◽  
Significant Rise ◽  
Small Intestinal Mucosa ◽  
Severe Diarrhea ◽  
Young Infants ◽  
Small Intestinal

Observations over a period of 6 years are reported on 10 children in whom the diagnosis of congenital sucrase isomaltase deficiency (SID) was confirmed by quantitative estimation of disaccharidase activity of the small intestinal mucosa. Repeat biopsies were performed on eight of the ten patients and showed no evidence that sucrase isomaltase activity is acquired. Sucrose tolerance tests (2 gm/kg) showed no significant rise in blood glucose in the seven patients in whom they were performed. This condition may appear in young infants with severe diarrhea resulting in a malabsorption syndrome and failure to thrive. It may also be manifest in a milder clinical presentation with bothersome diarrhea in spite of normal growth and development in the older infant or young child. The diagnosis in this latter group can be difficult, and is frequently missed.

scholarly journals Gastrodudenal Intussusception Secondary to a Gastric Lipoma

2005 ◽  
Vol 19 (2) ◽  
pp. 107-108 ◽  
Author(s):  
Fausto Y Vinces ◽  
Joseph Ciacci ◽  
David C Sperling ◽  
Steven Epstein
Keyword(s):  
Weight Loss ◽  
Diagnostic Laparoscopy ◽  
Medical Literature ◽  
Clinical Presentation ◽  
Exploratory Laparotomy ◽  
Diagnostic Workup ◽  
Nausea And Vomiting ◽  
Gastroduodenal Intussusception ◽  
Uncommon Condition ◽  
Gastric Lipoma

Gastroduodenal intussusception caused by a gastric lipoma is an uncommon condition, and only a few cases have been reported in the medical literature. A case of a 72-year-old man who complained of weight loss and intermittent episodes of nausea and vomiting is presented. Diagnostic workup demonstrated a mass in the second portion of the duodenum. The patient underwent a diagnostic laparoscopy followed by an exploratory laparotomy that confirmed the gastroduodenal intussusception by a gastric lipoma. In addition, the anatomical and clinical presentation, diagnosis and management of this entity are discussed.

scholarly journals Unusual presentation of paediatric anaplastic large cell lymphoma

1970 ◽  
Vol 8 (4) ◽  
pp. 135-138
Author(s):  
M Irfan ◽  
MM Yusri ◽  
ABM Farveen
Keyword(s):  
Anaplastic Large Cell Lymphoma ◽  
Fever Of Unknown Origin ◽  
Clinical Presentation ◽  
Cell Lymphoma ◽  
Unknown Origin ◽  
Large Cell ◽  
Medical Sciences ◽  
Non Hodgkin Lymphoma ◽  
Large Cell Lymphoma ◽  
Alk Positive

Anaplastic large cell lymphoma (ALCL) is a rare disease. Among childhood non-Hodgkin lymphoma, it constitutes less than 20% of the incidence of all cases. The clinical presentation though is known to be much diversified, most of the patients will present with an enlarged palpable cervical lymphadenopaty. Other reported features include fever of unknown origin, nonspecific pain, cough, shortness of breath, fatigue and malaise. We report a case of ALK-positive ALCL in a patient who presented with submandibular abscess. After defaulted treatment, the mass became fungating externally with everted edge that mimic squamous cell carcinoma. Keywords: ALCL; pediatric; clinical presentation DOI: 10.3329/bjms.v8i4.4711 Bangladesh Journal of Medical Sciences Vol.8(4); October 2009 pp135-138

scholarly journals Extramedullary Plasmacytoma Diagnosed in an HIV-Positive Patient by an Unusual Clinical Presentation

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Paulo de Camargo Moraes ◽  
Luiz Alexandre Thomaz ◽  
Victor Angelo Martins Montalli ◽  
José Luiz Cintra Junqueira ◽  
Camila Maria Beder Ribeiro ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Plasma Cells ◽  
Clinical Presentation ◽  
Extramedullary Plasmacytoma ◽  
Positive Patient ◽  
Treatment Center ◽  
Hiv Positive ◽  
Rapid Progression ◽  
Oral Diseases ◽  
Infected Woman

The aim of this paper is to describe a case report of EMP in an HIV-positive patient. A 44-year-old, dark-skinned HIV-infected woman was referred to the Oral Diseases Treatment Center with a swelling at palate and left gingival fornix in the maxilla. Biopsy was taken and the oral lesion was diagnosed as EMP with well-differentiated plasma cells and restriction of the lambda light-chain. Skeletal survey was performed and no radiograph alterations were observed, thus supporting the diagnosis of EMP. Patient was referred to treatment and after two months of chemo and radiotherapy, an expanding lesion was observed in L5/S1 patient’s vertebrae. Biopsy of the spinal lesion was consistent with lymphoma with plasmocitary differentiation, supporting the diagnosis of multiple myeloma (MM). Regarding the medical history, the final diagnostic was an oral extramedullary plasmacytoma with rapid progression into multiple myeloma. It is crucial to emphasize the relevance of HIV infection as a risk factor for both aggressive clinical behavior and unusual clinical presentation of extramedullary plasmacytoma cases.

scholarly journals Metastatic plasma cell leukemia to the skin: a case report with review of the literature

2021 ◽  
Author(s):  
Elena Pezzolo ◽  
Deborah Saraggi ◽  
Luigi Naldi
Keyword(s):  
Plasma Cell ◽  
Plasma Cells ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Skin Lesions ◽  
Plasma Cell Leukemia ◽  
Cell Leukemia ◽  
Leukemia Cutis ◽  
Aggressive Clinical Course ◽  
New Skin

Plasma cell leukemia (PCL) is a rare variant of leukemia with an aggressive clinical course and a poor prognosis. The cutaneous involvement in PCL is very rare either at clinical presentation of leukemia, namely “leukemia cutis”, or in the metastatic PCL to the skin. We present a case of eruptive multiple cutaneous nodules in a 56-year-old man with metastatic PCL. Histologically, a diffuse dermal and subcutaneous infiltration of ovoid cells with amphophilic cytoplasm and eccentrically located nucleus consistent with plasmacytoid morphology was observed. Neoplastic cells showed strong immunoexpression for CD138 and CD38 consistent with plasma cells phenotype, and loss of expression of CD56. Kappa light chain restriction similar to the phenotype of his PCL was demonstrated. We suggest that the evaluation of new skin lesions in leukemic patients should include a histopathologic examination to establish the diagnosis as soon as possible and a correct management of the disease.

scholarly journals TRAF1-ALK Fusion Predicts Poor Prognosis for ALK Positive Anaplastic Large Cell Lymphoma Patients with Chemotherapy and ALK Inhibitor

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 5224-5224
Author(s):  
Ling Huang ◽  
Xinmiao Jiang ◽  
Hanguo Guo ◽  
Liu Sichu ◽  
Xiaojuan Wei ◽  
...  
Keyword(s):  
Stem Cell ◽  
Stem Cell Transplantation ◽  
Cell Transplantation ◽  
Poor Prognosis ◽  
Large Cell ◽  
Fusion Partner ◽  
Alk Inhibitors ◽  
Alk Inhibitor ◽  
Alk Positive ◽  
Exon 20

Background: Relapsed/refractory anaplastic lymphoma kinase (ALK) positive anaplastic large cell lymphomas (ALCLs) respond to ALK inhibitors, but resistance, which bear a poor prognosis. No biomarkers were found to predict long duration of response to ALK inhibitors. The ALK gene was first identified as the fusion partner of the nucleophosmin (NPM1) gene in the recurrent t(2;5)(p23;q35) found in a subset of ALCL. However, several distinct ALK fusions which result in highly different characteristics have also been described in lymphomas. Methods: We retrospectively reviewed seven relapsed/refractory ALK positive ALCLs who received ALK inhibitors (six with Crizotinib and one with Alectinib) at Guangdong Provincial People's Hospital from June 2007 through March 2019. We did next generation sequencing (NGS) with paraffin-embedded tissue for two patients who quickly developed resistance. Results: Of the seven patients, four were male and three were female, with a median age of 18 years (range 15-51) old. The median line of therapies was four (range 3-7) and that of ALK inhibitor usage was three (range 2-5). The overall response rate was 7 of 7 (100%) and the median overall survival of 21.2 months (8.5-86 months). Three patients obtained complete response (CR) on Crizotinib and then received autologous stem cell transplantation, and are still CR. One patient obtained CR, but died of serious infection five months after allogeneic stem cell transplantation. One patient is in CR under continuous crizotinib administration. One patient received Crizotinib obtained CR, but three months later got progression disease, the NGS showed TNF receptor-associated factor 1 gene (TRAF1) exon 6-ALK exon 20 fusion junction. The last patient was CR on alectinib, but quickly developed resistance, with a progression free survival of 1 month, the NGS indicated TRAF1 exon 7-ALK exon 20 fusion. Conclusions: ALK inhibitors improved survival of relapsed/refractory ALK positive ALCLs. TRAF1-ALK fusion may predict poor clinical outcome to chemotherapy and ALK inhibitors. This ALK fusion may reflect a trend to aggressive behaviour in lymphomas. Disclosures Li: Guangdong Province Hospital: Employment.

scholarly journals Central Neurilemmoma of Mandible

2013 ◽  
Vol 4 (2) ◽  
pp. 134-137
Author(s):  
Anjana Bagewadi ◽  
Vaishali Keluskar ◽  
Raghavendra Byakodi ◽  
Arvind Shetti
Keyword(s):  
Clinical Features ◽  
Medical Literature ◽  
Clinical Presentation ◽  
Neurogenic Tumor ◽  
Benign Tumors ◽  
Diagnostic Challenge ◽  
Posterior Aspect ◽  
Radiographic Appearance ◽  
Rare Tumors ◽  
Tumors Of Bone

ABSTRACT Neurilemmomas involving bones are rare tumors constituting less than 1% of central benign tumors of bone. Only few cases of neurilemmomas occurring in the mandible have been reported in the medical literature so far. Here, we report a case of neurilemmoma involving the posterior aspect of mandible in a 15 years old male child. This case was a diagnostic challenge as the clinical features and radiographic features mimicked that of an odontogenic cyst but histologically turned out to be a neurilemmoma. Discussion on the incidence, clinical presentation, radiographic appearance, histopathological features and treatment of this benign neurogenic tumor is presented here. How to cite this article Byakodi R, Keluskar V, Bagewadi A, Shetti A. Central Neurilemmoma of Mandible. World J Dent 2013;4(2):134-137.

scholarly journals Neonatal parechovirus infection mimicking a surgical abdomen

2019 ◽  
Vol 12 (6) ◽  
pp. e229053
Author(s):  
Megan J Kirkley ◽  
Christine Robinson ◽  
Samuel R Dominguez ◽  
Kevin Messacar
Keyword(s):  
Clinical Presentation ◽  
Febrile Illness ◽  
Abdominal Distension ◽  
Term Infant ◽  
Potential Utility ◽  
Rapid Testing ◽  
Human Parechovirus ◽  
Common Cause ◽  
Young Infants

Human parechovirus-3 (PeVA3) infection is a common cause of febrile illness in young infants and the spectrum of clinical presentation is broad. We describe a term infant who presented with marked abdominal distension and anorexia, concerning for an acute surgical abdomen. Evaluation revealed that the infant had PeVA3 infection. This case highlights the importance of recognising severe abdominal distension and discomfort as a clinical presentation associated with PeV and the potential utility of rapid testing for PeV.

scholarly journals Case Report of Rare Type Submucosal Polyp–Angiolipofibroma of Sigmoid Colon

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Khin San Aye ◽  
Aung Khine Zan ◽  
Myo Thet Tin ◽  
Than Than Aye
Keyword(s):  
Sigmoid Colon ◽  
Medical Literature ◽  
Clinical Presentation ◽  
Operative Procedure ◽  
Benign Tumors ◽  
Histological Findings ◽  
Connective Tissues ◽  
Rare Presentation ◽  
Rare Type ◽  
Mesenchymal Tissue

Most of the colonic submucosal mesenchymal polyps are benign tumors. They are formed by more than one type of mesenchymal tissue. The diagnosis of angiolipofibroma depends on the histological findings with the proliferation of vascular, fatty, and fibrous connective tissues. Majority of angiolipofibromas are arising in the kidney and have rare presentation as extra renal region. Here we report a case of 58-year-old female patient with angiolipofibroma of sigmoid colon (8.5 cm x 4 cm size) which was treated successfully with surgical resection. The clinical presentation, operative procedure, pathological features, and medical literature review are presented.

scholarly journals A rare case of intratonsillar abscess in an adult

2015 ◽  
Vol 5 (4) ◽  
Author(s):  
Gautam Bir Singh ◽  
Deepak Kumar ◽  
Rubeena Arora ◽  
Sunil Garg ◽  
Shruti Ranjan
Keyword(s):  
Adult Male ◽  
Rare Case ◽  
Medical Literature ◽  
Clinical Presentation ◽  
Healthy Adult ◽  
Clinical Record ◽  
Rare Entity ◽  
Incision And Drainage ◽  
Healthy Adult Male

A rare case of intratonsillar abscess is presented in a 25-year old healthy adult male, where the clinical presentation was found to be unique hitherto unreported in the medical literature. The clinical record also highlights the importance of incision and drainage in the management of such cases. With this case, we illustrate a rare entity that present in an extremely rare manner.

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