OBJECTIVETo explore the clinical characteristics and histopathological morphology features of bone marrow biopsies between refractory cytopenia of children (RCC) and acquired aplastic anemia (AAA) to facilitate the diagnosis, differential diagnosis and treatment of RCC and AAA.

METHODSWe retrospectively analyzed clinical data and histopathological morphology of bone marrow biopsies in RCC or AAA patients referred to our hospital from January 2011 to December 2012.

RESULTSThere were totally 130 patients studied. The final diagnoses of them were RCC in 78 cases (60.0%) and AAA in 52 cases (40.0%). The median WBC count, absolute neutrophil count, blood platelet count, hemoglobin level, and reticulocyte count were all higher in RCC children than AAA (P<0.01). All of RCC patients showed hypocellular biopsy specimens, and 84.6% (66/78) of them had cellularity of bone marrow biopsy specimens ranging from 20% to 60%. Patchy pattern distribution was seen in 98.7% (77/78) of RCC cases, and micromegakaryocyte was found in 61.5% (48/78) of RCC cases. All of AAA patients showed severe hypocellular biopsy specimens, and 88.5% (46/52) of them had cellularity of bone marrow biopsy specimens under 5%. Megakaryocyte was not found in 98.1% (51/52) of AAA cases. The response rates of immunosuppressive therapy using CsA ± rabbit anti- thymocyte globulin ± androgen ± traditional Chinese medicine for patients with RCC and AAA were 59.5% and 26.9% at 3 months (P=0.011), and 75.0% and 38.1% at 6 months, respectively (P=0.007).

CONCLUSIONRCC patients showed milder cytopenia and bone marrow hyperplasia than AAA. Patchy distribution of hematopoietic cells, erythroid islands with a marked left shift and micromegakaryocytes were decisive histomorphological patterns used to separate RCC from SAA. Immunosuppressive therapy using CsA ± rabbit anti- thymocyte globulin ± androgen ± traditional chinese medicine was an effective therapy in patients with RCC and AAA, and the outcome of immunosuppressive therapy for RCC patients was superior to that of AAA patients.

Adolescent ; Anemia, Aplastic ; diagnosis ; pathology ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Myelodysplastic Syndromes ; diagnosis ; pathology ; Retrospective Studies

OBJECTIVETo explore the diagnosis and differential diagnosis of refractory cytopenia of children (RCC) according to WHO classification, and discuss the relationship between the cytology reviewed by hematologists and histology reviewed by pathologists.

METHODSWe selected 50 non-severe aplastic anemia cases from 2007 - 2010 in our hospital and collected clinical data. Experienced hematologists and pathologists evaluated bone marrow biopsy and smear respectively.

RESULTSOf 50 cases, 23 were male and 27 female (M:F = 1:1.17), the median age at diagnosis was 9 years (ranged from 3 to 14 years). 5 patients had disagreement of diagnosis between hematologists and pathologists. In 3 cases hematologists diagnosed as aplastic anemia (AA) and pathologists as RCC, 2 cases vice versa. The final diagnoses of 50 patients reached consensus between hematologists and pathologists were AA 16 cases, RCC 34 cases including 8 refractory cytopenias with multilineage dysplasia (RCMD) cases. All 16 cases AA showed severe hypocellularity. Only 4 cases (25.00%) RCC showed severe hypocellularity, 19 cases (73.08%) RCC showed mild hypocellularity and 3 cases (11.54%) RCC were normal hypocellularity.

CONCLUSIONOur results suggests that RCC was not rare in China. The main feature of RCC was dysplasia because of absence of increased blast. RCC was easily confused with AA. The main points of differential were present dysplastic changes of megakaryocyte best appreciated by the hematologists and morphologists and abnormal location of hematopoietic easily observed by pathologists. Overall, cytology and histology were complementary in the investigation of RCC and AA, because of sometimes one might give information that not be given from the other.

Adolescent ; Anemia, Aplastic ; diagnosis ; pathology ; Bone Marrow ; pathology ; Bone Marrow Examination ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Male ; Myelodysplastic Syndromes ; diagnosis ; pathology ; Pancytopenia ; diagnosis ; pathology ; Retrospective Studies

Relapsing polychondritis (RP) is a rare multisystem disorder. Myelodysplastic syndrome (MDS) with erythroid hypoplasia/aplasia is a rare form of myelodysplasia. Several cases of RP associated with MDS have recently been described. However, RP associated with MDS with erythroid hypoplasia/aplasia has never been reported. There was only one case report of polymyalgia rheumatica associated with MDS with erythroid hypoplasia/aplasia. In this study, we report a 79-year-old patient with RP, who developed MDS subtype refractory anemia (RA) with erythroid hypoplasia/aplasia, a very characteristic subtype of MDS.
Aged ; Biopsy ; Human ; Male ; Myelodysplastic Syndromes/*complications ; Polychondritis, Relapsing/*complications/*diagnosis/pathology ; Red-Cell Aplasia, Pure/*complications/pathology

Myelodysplastic syndrome (MDS) is a heterogeneous disease characterized by dysplasia and ineffective hematopoiesis. The dysplasia is crucial in the diagnosis of MDS, but the morphologic abnormalities of bone marrow cells are not specific for MDS. When the morphological evaluation of marrow dysplasia and cytogenetics can not give enough informations, for diagnosis of MDS, the application of flow cytometry (FCM) for immunophenotyping in MDS will become particularly important. Multiparametric evaluation of myeloid, monocytic maturation and antigen expression pattern contribute to the identification of two or more aberrancies in MDS cases. FCM evaluation of erythroid dysplasia is particularly difficult, because of the limited availability of specific markers. By analyzing the proteins involved in cellular iron metabolism, MDS erythroid cells present an "iron-loaded" phenotype characterized by increased ferritin contents and reduced transferrin receptor, which reflects the degree of dysplasia assessed by morphology. The proportion of CD34(+) cells increased, abnormal expression of surface antigen is also important. The application of flow cytometry in detecting dysplasia of myelodysplastic syndrome is discussed in this article.
Bone Marrow Cells ; pathology ; Erythroid Cells ; metabolism ; Flow Cytometry ; Humans ; Myelodysplastic Syndromes ; blood ; diagnosis ; pathology ; Receptors, Transferrin ; metabolism

Pneumatosis intestinalis (PI) is an uncommon disorder characterized by an accumulation of gas in the bowel wall, and has been associated with a variety of disorders and procedures. We describe a 35-year-old man who undertook hematopoietic stem cell transplantation due to myelodysplastic syndrome. An abdominal X-ray demonstrated extensive PI with pneumoperitoneum mimicking hollow organ perforation. However, the patient had no abdominal symptoms and there was no evidence of peritoneal inflammation. After two weeks of conservative management, including bowel rest and antibiotics, his pneumoperitoneum resolved spontaneously without any complications. Of the many factors that affect the gastrointestinal tract mucosal integrity, intramural pressure, and bacterial flora-produced intraluminal gas interact to produce PI. If the condition is accompanied by bowel ischemia, portomesenteric venous gas, metabolic acidosis, and abdominal sepsis, or if PI is severe in extent immediate surgical intervention is indicated. The described case supports that a mechanical rather than a bacterial etiology underlies the pathogenesis of PI.
Pneumoperitoneum/*diagnosis ; Pneumatosis Cystoides Intestinalis/*diagnosis/pathology/therapy ; Myelodysplastic Syndromes/*diagnosis/pathology ; Male ; Intestinal Perforation/*diagnosis ; Humans ; *Hematopoietic Stem Cell Transplantation ; Diagnosis, Differential ; Adult

Endoscopic submucosal dissection (ESD) has been successfully performed in thrombocytopenic conditions such as in patients with liver cirrhosis but successful ESD for early gastric cancer (EGC) in hematologic diseases has rarely been reported. A 52-year-old male patient, who had previously been diagnosed with myelodysplastic syndrome 2 years ago, was admitted to our hospital for ESD of EGC. ESD was performed successfully in this patient after platelet concentrates transfusion on the day of ESD. ESD might be an option for the treatment of EGC in thrombocytopenia due to hematologic diseases when optimal supportive managements are applied.
Early Detection of Cancer ; Endosonography ; Gastric Mucosa/*surgery ; Gastroscopy ; Humans ; Male ; Middle Aged ; Myelodysplastic Syndromes/complications/*diagnosis/pathology ; Stomach Neoplasms/complications/*diagnosis/pathology ; Tomography, X-Ray Computed

OBJECTIVETo analyze the clinical features and prognosis of the primary myelodysplastic syndrome with myelofibrosis (MDS-MF) patients and to improve the cognition of MDS-MF.

METHODSFour hundred and sixty-six primary MDS patients with bone marrow (BM) biopsy were divided into two groups according to whether BM associated with fibrosis, the clinical features and prognosis of the two groups were analyzed retrospectively.

RESULTS167 (35.8%) MDS cases revealed myelofibrosis, of which MF-1 123 cases (26.4%), MF-2 40 cases (8.6%), MF-3 4 cases (0.9%). The proportion of hepatosplenomegaly in MDS-MF group was significantly higher than in MDS without MF group, the difference had statistical significance (P = 0.031). The proliferation of BM biopsy in MDS-MF group was significantly more active than in MDS without MF group. The number of blasts, megakaryocytes and abnormal megakaryocytes in MDS-MF group were significantly higher than in MDS without MF group, the differences had statistical significance (P < 0.05). Among the 345 patients who had available results of cytogenetic analysis, 121 cases were MDS-MF patients, the proportion of middle and high-risk prognostic group according to IPSS karyotype prognosis groups in MDS-MF group were significantly higher than in MDS without MF group, the differences had statistical significance (P = 0.047). The median survival was 17 (1 - 60) months in MDS-MF group, and was 32 (1 - 62) months in MDS without MF group. The difference had statistical significance (P = 0.001). Myelofibrosis had independent prognostic significance by multi-variable analysis (P = 0.019).

CONCLUSIONThe myelofibrosis in MDS is main the proliferation of reticular fiber. The proliferation of reticular fiber is closely related with the number of blast cells, the proliferation and developmental abnormalities of megakaryocytes and the karyotype. The prognosis of MDS-MF patients is poor.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Female ; Humans ; Karyotyping ; Male ; Middle Aged ; Myelodysplastic Syndromes ; complications ; diagnosis ; pathology ; Primary Myelofibrosis ; complications ; diagnosis ; pathology ; Prognosis ; Retrospective Studies ; Young Adult

This study was purposed to analyse the characteristics of blast immunophenotype in patients with refractory anemia with excess blasts, type 1 (RAEB-1) and refractory anemia with excess blasts, type 2 (RAEB-2) by flow cytometry and investigate its diagnostic significance, as well as to compare the blast rate detected by FCM and bone marrow smear (BMS). FCM was used to count the blast rate and detect the expression of its antigens in 29 cases of MDS. The result indicated that: (1) The rate of the blasts detected by FCM and BMS was not statistically significant between patients with RAEB-1 and with RAEB-2 (P > 0.05); (2) Out of 13 patients with RAEB-1, the blasts of 10 cases, 12 cases, 8 cases, 11 cases, 11 cases, 3 cases, 7 cases, 0 case, 0 case, 3 cases and 2 cases patients had positive expressions of CD34, HLA-DR, CD117, CD33, CD13, CD15, CD11b, CD3, CD19, CD7 and CD56, separately. The blasts of 12 cases, 13 cases, 3 cases, 12 cases, 15 cases, 7 cases, 5 cases, 0 case, 1 case, 4 cases and 2 cases among 16 patients with RAEB-2 positively expressed CD34, HLA-DR, CD117, CD33, CD13, CD15, CD11b, CD3, CD19, CD7 and CD56, respectively. However, there was no significant difference in the expression of antigens in blasts of the bone marrow between the patients with RAEB-1 and with RAEB-2 (P > 0.05); (3) The positive expression for CD15 and CD11b in blasts was found in 10 cases and 12 cases, respectively; (4) The positive expression for CD19, CD7 and CD56 was observed in 1, 7 and 4 cases, respectively. None of the 29 cases of MDS was positive for CD3. It is concluded that FCM can reveal the characteristics of immunophenotypic abnormalities of the blasts in patients with MDS and provide the important information for diagnosis and differential diagnosis of MDS.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Bone Marrow ; pathology ; Female ; Flow Cytometry ; Humans ; Immunophenotyping ; Male ; Middle Aged ; Myelodysplastic Syndromes ; diagnosis ; immunology ; pathology ; Prognosis ; Young Adult

Adolescent ; Adult ; Aged ; Alleles ; Child ; Female ; HLA-DR Serological Subtypes ; genetics ; Humans ; Male ; Middle Aged ; Myelodysplastic Syndromes ; diagnosis ; genetics ; pathology ; Prognosis ; Young Adult

Isolated deletion of the long arm of chromosome 20 [del(20q12)] is a rare abnormality in patients with de novo myelodysplastic syndrome. It is characterised by refractory thrombocytopenia, minimal haematological dysplasia and a lower risk for progression to acute myeloid leukaemia. Its distinction from chronic autoimmune thrombocytopenia, although clinically and morphologically difficult, is critical. We report a case of refractory cytopenia and unilineage dysplasia in an elderly woman with isolated del(20q12), identified via fluorescence in situ hybridisation analysis of her bone marrow. In order to avoid a misdiagnosis, we suggest that cytogenetic analysis be performed on all patients suspected to have myelodysplastic syndrome with predominant thrombocytopenic presentation.
Aged ; Biopsy, Needle ; Bone Marrow Cells ; pathology ; Chromosome Deletion ; Chromosomes, Human, Pair 20 ; Female ; Flow Cytometry ; Humans ; In Situ Hybridization, Fluorescence ; Myelodysplastic Syndromes ; diagnosis ; genetics