A Case Report of Breast Angiosarcoma

Angiosarcoma is a rare disease of the breast with the reported incidence of only 0.04% of all breast malignancies. The etiology of angiosarcoma remains unknown. It occurs post-mastectomy, in association with chronic lymphedema (Stewart-Treves syndrome), or after radiotherapy. We present a patient with angiosarcoma which developed 12 years of the diagnosis of breast carcinoma and 8 years of the operative procedure and radiotherapy for disease recurrence. A small angiomatous lesion of a few mm in size, cytologically suspect of vascular tumor (hemangioma or hemangiopericytoma) and histopathologically verified to be an atypical vascular lesion, was detected two years before breast enlargement and cytologic and histologic diagnosis of angiosarcoma. The patient died 15 months of the diagnosis of angiosarcoma, after two tumor recurrences and intrathoracic cavity invasion

T Lymphoblastic Leukaemia with an Unusual Burkitt Lymphoma Morphology – A Case Report

Precursor T-cell acute lymphoblastic leukaemia (T-ALL)/lymphoma (T-LBL) is a neoplasm with cytological features that include blast cells of medium size, high nuclear cytoplasmic ratio and inconspicuous nucleoli, which are usually TdT (Terminal Deoxynucleotidyl Transferase) positive and variably express T-cell markers. We report a case of T-ALL with atypical cytological presentation which showed lymphoblasts with homogenous nuclear pattern, larger amounts of cytoplasm with vacuoles and prominent nucleoli. A 56-year-old male was hospitalized due to high fever and kidney infection. Further examination confirmed anemia, thrombocytopenia, normal level of white blood cells and high level of lactat-dehidrogenase (LDH). Bone marrow aspiration revealed 87% and peripheral blood 41% of lymphoblasts with cytoplasmic vacuoles which suggested Burkitt lymphoma (BL) morphology. Patient’s karyotype showed no chromosomal aberations. Identification of immunophenotype discovered cells which were CD2 and CD3 positive and CD20 negative with focal acid phosphatase activity in 67% of blasts. This excluded Burkitt lymphoma and led to diagnosis of T-ALL. The patient was submitted to two cycles of chemotherapy, autologous stem cell transplantation, and intrathecal chemotherapy, but he died after 10 months because of disease complications (lung aspergillosis and pleural effusion). Our case report showed how morphology alone can be misleading and sometimes is not enough in diagnosing ALL. Beside morphologic criteria, setting correct diagnosis depends on identification of immunophenotype by flow cytometry and cytogenetic-molecular abnormalities. Further improvements in the molecular definition of ALL subtypes, development of new and targeted drugs will improve patient’s outcome and prognosis

A Case Report of Breast Angiosarcoma

Angiosarcoma is a rare disease of the breast with the reported incidence of only 0.04% of all breast malignancies. The etiology of angiosarcoma remains unknown. It occurs post-mastectomy, in association with chronic lymphedema (Stewart-Treves syndrome), or after radiotherapy. We present a patient with angiosarcoma which developed 12 years of the diagnosis of breast carcinoma and 8 years of the operative procedure and radiotherapy for disease recurrence. A small angiomatous lesion of a few mm in size, cytologically suspect of vascular tumor (hemangioma or hemangiopericytoma) and histopathologically verified to be an atypical vascular lesion, was detected two years before breast enlargement and cytologic and histologic diagnosis of angiosarcoma. The patient died 15 months of the diagnosis of angiosarcoma, after two tumor recurrences and intrathoracic cavity invasion

Myelodysplastic syndromes – new discoveries and an “old” morphology

Mijelodisplastični sindrom heterogena je grupa bolesti koje dijele neka klinička i morfološka obilježja. Uzrok im je nepoznat. Budući da brz razvoj molekularne genetike omogućuje uvid u uzročne genske aberacije, danas se mogu odrediti neki patogenetski mehanizmi u nastanku mijelodisplastičnog sindroma. U ovom radu pokušat ćemo objasniti neka otkrića u tom području i njihovu vezu s citomorfološkim obilježjima, fenotipom mijelodisplastičnog sindroma.Myelodysplastic syndromes (MDS) are a heterogenous group of diseases sharing some clinical and morphological features. Their cause is unknown. Since the rapid development of molecular genetics allows an insight into underlying genetic aberrations, today it is possible to determine some pathogenetic mechanisms in MDS. In this presentation we would like to explain some of the discoveries in this area and their connection to the myelodysplastic phenotype as seen in everyday cytomorphology work

Morphology of myelodysplastic/myeloproliferative neoplasms (MDS/MPN)

Dijagnostička kategorija mijelodisplastične/mijeloproliferativne neoplazme (MDS/MPN) obuhvaća klonske hematopoetske neoplazme koje u vrijeme postavljanja dijagnoze istodobno pokazuju klinička, laboratorijska i/ili morfološka obilježja i mijelodisplastičnog sindroma (MDS) i mijeloproliferativne neoplazme (MPN). Citopenija i displazija jedne ili više mijeloidnih loza (obilježja MDS-a) mogu se vidjeti istodobno s leukocitozom, trombocitozom i/ili organomegalijom (obilježja koja su češće povezana s MPN-om). Bolesnici s prije dijagnosticiranim MPN-om, kod kojih se razviju mijelodisplastične promjene kao posljedica evolucije bolesti ili kemoterapije, ne ubrajaju se u ovu dijagnostičku kategoriju. Prema klasifikaciji Svjetske zdravstvene organizacije (engl. World Health Organization – WHO) iz 2008. godine te njezinoj reviziji iz 2016. godine, MDS/MPN obuhvaća pet entiteta: kroničnu mijelomonocitnu leukemiju (engl. chronic myelomonocytic leukemia – CMML), juvenilnu mijelomonocitnu leukemiju (engl. juvenile myelomonocytic leukemia – JMML), atipičnu kroničnu mijeloičnu leukemiju, BCR-ABL1- (engl. atypical chronic myeloid leukemia – aCML), MDS/MPN s prstenastim sideroblastima i trombocitozom (engl. MDS/MPN with ring sideroblasts and thrombocytosis – MDS/MPN-RS-T) i neklasificirani MDS/MPN (engl. MDS/MPN, unclassifiable – MDS/MPN, U).Diagnostic category of MDS/MPN includes clonal hematopoietic neoplasms, which show the concomitant clinical, laboratory and/or morphologic features of both myelodysplastic syndrome (MDS) and myeloproliferative neoplasm (MPN) at the time of diagnosis. Cytopenia and dysplasia of one or more myeloid lineages (the MDS features) can be present accompanied with leukocytosis, thrombocytosis and/or organomegaly (all features more often related to MPN). Patients with a previous diagnosis of MPN who develop the myelodysplastic alterations secondary to disease evolution or chemotherapy are not assigned to this diagnostic category. According to the WHO (World Health Organization) classification from 2008 and the 2016 revision, the MDS/MPN category includes five entities as follows: CMML (chronic myelomonocytic leukemia), JMML (juvenile myelomonocytic leukemia), aCML (atypical chronic myeloid leukemia) BCR-ABL1- , MDS/MPN-RS-T (MDS/MPN with ring sideroblasts and thrombocytosis) and MDS/MPN-U (MDS/MPN, unclassifiable)

T lymphoblastic leukaemia with an unusual Burkitt lymphoma morphology - a case report [T limfoblastična leukemija sa neuobičajenom morfologijom Burkitovog limfoma - prikaz slučajeva]

Precursor T-cell acute lymphoblastic leukaemia (T-ALL)/lymphoma (T-LBL) is a neoplasm with cytological features that include blast cells of medium size, high nuclear cytoplasmic ratio and inconspicuous nucleoli, which are usually TdT (Terminal Deoxynucleotidyl Transferase) positive and variably express T-cell markers. We report a case of T-ALL with atypical cytological presentation which showed lymphoblasts with homogenous nuclear pattern, larger amounts of cytoplasm with vacuoles and prominent nucleoli. A 56-year-old male was hospitalized due to high fever and kidney infection. Further examination confirmed anemia, thrombocytopenia, normal level of white blood cells and high level of lactat-dehydrogenase (LDH). Bone marrow aspiration revealed 87% and peripheral blood 41% of lymphoblasts with cytoplasmic vacuoles which suggested Burkitt lymphoma (BL) morphology. Patient's karyotype showed no chromosomal aberations. Identification of immunophenotype discovered cells which were CD2 and CD3 positive and CD20 negative with focal acid phosphatase activity in 67% of blasts. This excluded Burkitt lymphoma and led to diagnosis of T-ALL. The patient was submitted to two cycles of chemotherapy, autologous stem cell transplantation, and intrathecal chemotherapy, but he died after 10 months because of disease complications (lung aspergillosis and pleural effusion). Our case report showed how morphology alone can be misleading and sometimes is not enough in diagnosing ALL. Beside morphologic criteria, setting correct diagnosis depends on identification of immunophenotype by flow cytometry and cytogenetic-molecular abnormalities. Further improvements in the molecular definition of ALL subtypes, development of new and targeted drugs will improve patient's outcome and prognosis

T limfoblastična leukemija sa neuobičajenom morfologijom Burkitovog limfoma - prikaz slučajeva

Precursor T-cell acute lymphoblastic leukaemia (T-ALL)/lymphoma (T-LBL) is a neoplasm with cytological features that include blast cells of medium size, high nuclear cytoplasmic ratio and inconspicuous nucleoli, which are usually TdT (Terminal Deoxynucleotidyl Transferase) positive and variably express T-cell markers. We report a case of T-ALL with atypical cytological presentation which showed lymphoblasts with homogenous nuclear pattern, larger amounts of cytoplasm with vacuoles and prominent nucleoli. A 56-year-old male was hospitalized due to high fever and kidney infection. Further examination confirmed anemia, thrombocytopenia, normal level of white blood cells and high level of lactat-dehydrogenase (LDH). Bone marrow aspiration revealed 87% and peripheral blood 41% of lymphoblasts with cytoplasmic vacuoles which suggested Burkitt lymphoma (BL) morphology. Patient's karyotype showed no chromosomal aberations. Identification of immunophenotype discovered cells which were CD2 and CD3 positive and CD20 negative with focal acid phosphatase activity in 67% of blasts. This excluded Burkitt lymphoma and led to diagnosis of T-ALL. The patient was submitted to two cycles of chemotherapy, autologous stem cell transplantation, and intrathecal chemotherapy, but he died after 10 months because of disease complications (lung aspergillosis and pleural effusion). Our case report showed how morphology alone can be misleading and sometimes is not enough in diagnosing ALL. Beside morphologic criteria, setting correct diagnosis depends on identification of immunophenotype by flow cytometry and cytogenetic-molecular abnormalities. Further improvements in the molecular definition of ALL subtypes, development of new and targeted drugs will improve patient's outcome and prognosis.Prekursorska T-akutna limfoblastična leukemija/limfom (T-ALL/LBL) je bolest morfološki karakterizirana srednje velikim limfoblastima s visokim omjerom jezgre i citoplazme i diskretnim nukleolima. Limfoblasti su pretežno TdT (Terminalna Deoksinukleotidil Transferaza) pozitivni uz različito izražavanje T-staničnih biljega (CD1a, CD2, CD3, CD4, CD5, CD7 i CD8). Prikazujemo slučaj T-ALL-a atipične citološke slike s limfoblastima, homogene strukture kromatina, izraženih nukleola te izrazito vakuolizirane citoplazme. 56-godišnji muškarac je hospitaliziran zbog vrućice i infekcije urotrakta. Dodatne pretrage pokazale su anemiju i trombocitopeniju te visoku razinu laktat-dehidrogenaze (LDH) uz uredan broj leukocita. U punktatu koštane srži na|eno je 87% a u perifernoj krvi 41% limfoblasta izrazito vakuolizirane citoplazme, što je sugeriralo morfologiju Burkittovog limfoma (BL). Kariotip nije pokazao kromosomske aberacije. Imunofenotipski blasti su bili CD2 i CD3 pozitivni a CD20 negativni, s fokalnom citokemijskom pozitivnošću kisele fosfataze u 67% stanica. Na osnovu toga je isključen Burkittov limfom te je postavljena dijagnoza T-ALL-a. Nakon dva ciklusa kemoterapije pacijent je podvrgnut autolognoj transplantaciji koštane srži i intratekalnoj kemoterapiji. Unatoč provedenoj terapiji, bolesnik umire nakon 10 mjeseci zbog komplikacija bolesti (plućna aspergiloza i pleuralni izljev). Naš slučaj pokazuje kako ponekad sama morfološka slika nije dovoljna za postavljenje dijagnoze ALL-a. Osim morfoloških kriterija, za ispravnu dijagnozu neophodno je odrediti imunofenotip limfoblasta te prisutnost citogenetsko-molekularnih abnormalnosti. Budući napretci u molekularnim definiranjima ALL subtipova i razvoj novih ciljanih lijekova poboljšat će ishod i prognozu pacijenata