The Progress of Next Generation Sequencing in the Assessment of Myeloid Malignancies

The introduction and advances on next-generation sequencing have led to novel ways to integrate simultaneous assessment of multiple target genes in routine laboratory analysis. Assessment of myeloid neoplasms with targeted next-generation sequencing panels shows evidence to improve diagnosis, assist therapeutic decisions, provide better information about prognosis, and better detection of minimal residual disease. Herein, we provide information for application and utilization of next-generation sequencing studies with a focus on the most important mutations in acute myeloid leukemia, myelodysplastic syndrome, myeloproliferative neoplasms, and other myelodysplastic/myeloproliferative neoplasms in order to integrate them into the daily clinical practice

Paratiroid karsinomu: Hiperparatiroidinin nadir bir nedeni

Paratiroid karsinomları primer hiperparatiroidinin nadir nedenleri arasında yer alır. Bu tümörler tüm primer hiperparatiroidilerin %0.4-1'inde görülür ve paratiroid bezininin diğer hastalıklarından ayrımı zordur. Daha once paratiroid adenoma tanısı ile opere olan 61 yaşında bayan hasta kliniğimize paratiroid karsinomu şüphesi ile başvurdu. Hastanın klinik muayenesinde tiroid glandın sağ tarafında kitle palpe edildi ve radyolojik incelemeler tanıyı destekledi. Hastaya tiroidektomi, paratiroidektomi, boyun diseksiyonu ve strap kas eksizyonu yapıldı ve patolojik incelemede paratiroid karsinomu tanısı kondu. Hasta oral kalsiyum ve kalsitriol tedavisi ile sorunsuz olarak taburcu edildi.Parathyroid carcinoma is one of the rare causes of primary hyperparathyroidism. These tumors account for 0.4-1% of all cases of primary hyperparathyroidism and it is difficult to distinguish from benign disorders of parathyroid glands. A 61-year-old female patient previously operated for parathyroid adenoma admitted to our clinic with parathyroid carcinoma suspicion. Clinical examination revealed a mass in the right half of the thyroid gland and radiological investigation supported the diagnosis. She underwent surgery and thyroidectomy, parathyroidectomy, neck dissection and strap muscle excision were performed. The pathological investigation revealed parathyroid carcinoma. The patient was discharged uneventful with oral calcitriol and calcium replacement

Gastrointestinal Tract Multiple Lymphomatous Polyposis Presented As Mantle Cell Lymphoma

DergiPark: 640245tmsjAims: Mantle cell lymphoma is a mature B cell non-Hodgkin lymphoma which may be presented with the involvement of the gastrointestinal tract as multiple lymphomatous polyposis. The aim of this case report is to increase the awareness of including lymphomatoid polyposis as an entity in the differential diagnosis of multiple polyposis of the gastrointestinal tract. Case Report: A 69-year-old male patient was admitted to the Trakya University Emergency Department with acute abdominal pain. His cli-nical findings were anorexia that started 3-4 months ago together with constipation and nausea causing him to lose 10-15 kg in 7-8 months, with denial of other parameters of B-symptoms (fevers and night sweats). Endoscopic biopsies that were taken from bulbus and duodenum were investigated and he was diagnosed with mantle cell lymphoma. The patient went through an ileoce-cal resection due to his intussusception that caused abdominal pain in the first place. Conclusion: Although being an infrequent disease, gastrointestinal lymphomatoid polyposis should be an entity comprised in differential diagnosis for multiple polyposis of the gastrointestinal tract. On the other hand, there is still not a therapeutic protocol with a definitive cure for gastrointestinal tract mantle cell lymphoma. Elderly patients in high risk group such as our patient should be given treatment by taking their conditions into consideration. Keywords: Mantle cell lymphoma, polyp, non-Hodgkin lymphom

Case Report of An Incidental Unicentric Castleman Disease

DergiPark: 889347tmsjAims: To emphasize the hardship of diagnosing Castleman disease and present a potential treatment method. Case Report: A sixty-three-year-old male patient was admitted to the outpatient clinic with an attack of acute cholecystitis. The patient’s abdominal computed tomography revealed an incidentally detected lipid dense solid mass (64x53x37 mm) at the level of right renal hilum with 29x13 mm solid components in the middle. The patient was admitted to the urology department and underwent surgery where the mass was totally excised due to suspicion of a malignancy (liposarcoma). Histopathological examination later on resulted with unicentric Castleman disease, hyaline vascular subtype. Conclusion: Since unicentric Castleman disease has an asymptomatic clinical course and is quite rare, it is necessary to rule out many potential possibilities before reaching a proper diagnosis. However, unicentric Castleman disease usually exhibits a good prognosis after the removal of the affected lymph node. Still, Castleman disease should be a candidate considered in the differential diagnosis of patients with incidentally discovered lymphadenopathy. On the whole, for a better understanding of underlying pathophysiology, there still lies a gap to be filled with knowledge acquired through further studies

Clinicopathological Features of Myeloid Sarcoma Patients From a Single Center Experience

DergiPark: 700195tmsjAims: This retrospective study aims to emphasize clinicopathological data and diagnosis of an uncommon myeloid neoplasm;myeloid sarcoma. Methods: Data of all patients from 2000-2019 were retrieved from the archives of Trakya University Schoolof Medicine Hematology and Pathology Departments. Patients’ charts were examined retrospectively by collecting data including age, gender, anatomic site, history of hematological malignancy, blood count, pathological characteristics and treatmentsadministered. Results: There were 8 patients; 6 male and 2 female. The median age was 42.5 years (range: 29-69 years). Themost prevalently involved sites were skin, lymph node and bone/soft tissue. There were six patients as myeloid sarcoma withpreexisting or concurrent acute myeloid leukemia, one patient as de novo and one patient as acute myeloid leukemia with myelodysplasia related changes. One of the concurrent acute myeloid leukemia patients was Down syndrome related acute myeloidleukemia with myeloid sarcoma. Immunohistochemically, out of 8 patients, 4 were of myelomonocytic, 2 were of the myelocyticand 2 were of the monocytic differentiation. Conclusion: Myeloid sarcoma is a tumor mass made up of immature myeloid blastsappearing at an anatomical site other than bone marrow. Taking into account of having a challenging diagnosis, unusual cellularinfiltration at any site on a patient especially with a history of acute myeloid leukemia should have myeloid sarcoma in theirdifferential diagnosis. Keywords: Myeloid sarcoma, acute myeloid leukemia, myeloid neoplasi

Nadir bir anjiyomiksolipoma olgusu: Diğer vasküler ve miksod tümörler ile ayırıcı tanı

Otuz altı yaşındaki bir erkek hastanın ensesinde ortaya çıkan bir anjiyomiksolipoma olgusu sunulmaktadır. Lipomatöz tümörlere benign yumuşak doku neoplazileri arasında oldukça sık rastlansa da, anjiyomiksolipom tanısı ile sadece yedi olgu sunumu vardır. Burada tipik anjiyomiksolipom olan yeni bir olguyu sunmaktayız. Histopatolojik olarak bu tümörün en çarpıcı özelliği birbiri içine giren matür yağ dokusu ve hücreden fakir miksoid iğsi hücreli alanlar ve eşlik eden çok sayıda damar yapısıdır. Miksoid iğsi hücreli lipom, vasküler iğsi hücreli lipom, miksoid liposarkom, miksolipom, anjiyolipom ve psödoanjiyomatöz iğsi hücreli lipom anjiyomiksolipom ayırıcı tanıya girebilecek olan lezyonlardır. Bu son derece nadir lezyonun ayırıcı tanısında immunohistokimya oldukça destekleyicidir. Bizim olgumuzda iğsi hücrelerdeki SMA, desmin, S-100 protein ve HMB45 negatifliği ve bunun beraberinde vimentin pozitifliği ve CD34 zayıf pozitifliği tanıya yardımcı olan immunohistokimyasal bulgular olmuştur.A case of angiomyxolipoma in the posterior neck region of a 36-year-old man is presented. Although lipomatous tumors are very frequent among benign soft tissue neoplasms, angiomyxolipoma has been reported only in seven case studies before. We present a new case of a typical angomyxolipoma. Histopathologically, admixture of mature adipocytes, poorly cellular myxoid spindle cell areas and abundant vascular structures are the striking components of this tumor. Myxoid spindle cell lipoma, vascular spindle cell lipoma, myxoid liposarcoma, myxolipoma, angiolipoma and pseudoangiomatous spindle cell lipoma can be considered in the differential diagnosis of angiomyxolipoma. Immunohistochemistry is usually helpful in the diagnosis of this extremely rare entity. In our case, positive staining for vimentin and sparse positivity for CD34, in the absence of reactivity for SMA, desmin, S-100 protein and HMB45 in the spindle cells, are the most important immunohistochemical features that help in the differential diagnosis

Renal hücreli karsinomlarda fuhrman nükleer derece, evre ve sarkomatoid diferansiyasyonun sağkalım ile ilişkisi

Amaç: Renal hücreli karsinom, böbrek tubul epitelinden kaynaklanan malign bir tümördür. Çalışmamızda bu tümörlerin histolojik özellikleri, boyutu, evrelendirme, nükleer derecelendirme ve sarkomatoid diferansiyasyon parametreleri ile sağkalım arasındaki ilişki araştırıldı. Hastalar ve Yöntemler: 2000-2008 yılları arasında renal hücreli karsinom tanısı almış 78 nefrektomi olgusu 2004 Dünya Sağlık Örgütü sınıflamasına göre yeniden değerlendirildi. Beş histolojik alt tipte sınıflandırılan olguların Fuhrman Nükleer Dereceleri, evreleri, sarkomatoid diferansiyasyon varlığı ve sağkalım oranları kaydedildi. Tüm parametrelerin birbirleriyle ilişkileri istatistiksel yöntemlerle değerlendirildi. Bulgular: Çalışmamızda yüksek nükleer derece, ileri evre ve sarkomatoid diferansiyasyon gösteren olgularda sağkalım süreleri kısaydı (p<0,05). Sonuç olarak, renal hücreli karsinomlarda prognostik değeri olan histopatolojik parametreler ile sağkalım arasında literatürle uyumlu olarak anlamlı ilişki saptandı. Sonuç: Renal Hücreli Karsinomların değerlendirilmesinde kullanılan Fuhrman nükleer dereceleme, evre ve sarkomatoid diferansiyasyon sağkalım ile ilişkili önemli parametrelerdir. Fuhrman nükleer derecelemenin mutlaka doğru yapılması ve tumor içinde izlenen en yüksek derecenin raporlanması uygundur. Literatürde çok sayıda çalışma yapılmamış olmakla birlikte tümörde sarkomatoid diferansiyasyon varlığı sağkalım oranlarını anlamlı ölçüde azaltmaktadır. Sarcomatoid diferansiasyonu da içeren histopatolojic parametrelerin doğru değerlendirilmesi ve patoloji raporunda bildirilmesi çok önemlidir.Objective: Renal cell carcinoma derived from tubular epithelium is one of the malignant tumors of the kidney. We have investigated the histological features, pathological stage, nuclear grade and sarcomatoid differentiation of these tumors. Material and Methods: Histological slides from seventy-eight nephrectomy specimens diagnosed as renal cell carcinoma between 2000 and 2008 were reevaluated according to the 2004 World Health Organization classification system of kidney tumors. Reclassified cases were collected in five groups and were scored for Fuhrman nuclear grading, stage, sarcomatoid differentiation and survival rate. Results: In our study, cases with high nuclear grade, advanced stage and sarcomatoid differentiation revealed poor survival rates (p&lt;0.05). In conclusion, the correlation between prognostic histopathological parameters and survival rates was consistent with literature findings. Conclusion: Fuhrman nuclear grading, stage and sarcomatoid differentiation are important parameters and are related factors in survival when investigating renal cell carcinomas. Fuhrman nuclear grading must be evaluated correctly and the highest grade should be reported. Although there aren't enough studies about sarcomatoid differentiation, its presence significantly decreases survival rates. It is very important to state histopathological parameters including sarcomatoid differentiation precisely on the pathology report

The Relationship of Fuhrman Nuclear Grade, Tumor Stage and Sarcomatoid Differentiation with Survival in Renal Cell Carcinomas

Objective: Renal cell carcinoma derived from tubular epithelium is one of the malignant tumors of the kidney. We have investigated the histological features, pathological stage, nuclear grade and sarcomatoid differentiation of these tumors. Material and Methods: Histological slides from seventy-eight nephrectomy specimens diagnosed as renal cell carcinoma between 2000 and 2008 were reevaluated according to the 2004 World Health Organization classification system of kidney tumors. Reclassified cases were collected in five groups and were scored for Fuhrman nuclear grading, stage, sarcomatoid differentiation and survival rate. Results: In our study, cases with high nuclear grade, advanced stage and sarcomatoid differentiation revealed poor survival rates (p<0.05). In conclusion, the correlation between prognostic histopathological parameters and survival rates was consistent with literature findings. Conclusion: Fuhrman nuclear grading, stage and sarcomatoid differentiation are important parameters and are related factors in survival when investigating renal cell carcinomas. Fuhrman nuclear grading must be evaluated correctly and the highest grade should be reported. Although there aren’t enough studies about sarcomatoid differentiation, its presence significantly decreases survival rates. It is very important to state histopathological parameters including sarcomatoid differentiation precisely on the pathology report