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1.
Sci Rep ; 10(1): 19302, 2020 11 09.
Article in English | MEDLINE | ID: mdl-33168884

ABSTRACT

Congenital obstructive nephropathy hinders normal kidney development. The severity and the duration of obstruction determine the compensatory growth of the contralateral, intact opposite kidney. We investigated the regulation of renal developmental genes, that are relevant in congenital anomalies of the kidney and urinary tract (CAKUT) in obstructed and contralateral (intact opposite) kidneys after unilateral ureteral obstruction (UUO) in neonatal and adult mice. Newborn and adult mice were subjected to complete UUO or sham-operation, and were sacrificed 1, 5, 12 and 19 days later. Quantitative RT-PCR was performed in obstructed, intact opposite kidneys and sham controls for Gdnf, Pax2, Six4, Six2, Dach1, Eya1, Bmp4, and Hnf-1ß. Neonatal UUO induced an early and strong upregulation of all genes. In contrast, adult UUO kidneys showed a delayed and less pronounced upregulation. Intact opposite kidneys of neonatal mice revealed a strong upregulation of all developmental genes, whereas intact opposite kidneys of adult mice demonstrated only a weak response. Only neonatal mice exhibited an increase in BMP4 protein expression whereas adult kidneys strongly upregulated phosphatidylinositol 3 kinase class III, essential for compensatory hypertrophy. In conclusion, gene regulation differs in neonatal and adult mice with UUO. Repair and compensatory hypertrophy involve different genetic programs in developing and adult obstructed kidneys.


Subject(s)
Animals, Newborn , Gene Expression Regulation, Developmental , Kidney/growth & development , Kidney/physiopathology , Ureteral Obstruction/metabolism , Animals , Apoptosis , Bone Morphogenetic Protein 4/metabolism , Cell Proliferation , Female , Glial Cell Line-Derived Neurotrophic Factor/metabolism , Kidney/abnormalities , Kidney Diseases/metabolism , Male , Mice , Mice, Inbred C57BL , Reverse Transcriptase Polymerase Chain Reaction , Time Factors , Up-Regulation , Urinary Tract/abnormalities
3.
Pathol Res Pract ; 211(11): 883-91, 2015 Nov.
Article in English | MEDLINE | ID: mdl-26300063

ABSTRACT

Double minute chromosomes (DMs), although relatively frequently encountered in solid tumors, are rare in hematologic neoplasms such as acute myeloid leukemia (AML), and even rarer in lymphoid neoplasms. t(3;3)(q26.2;q21) is a very rare genetic alteration observed in myeloid neoplasm. Herein we report an interesting and unique case of concomitant C-MYC DMs and t(14;18)-containing large B-cell lymphoma, which was successfully treated with R-hyper-CVAD; unfortunately, the patient has developed a therapy-related AML (t-AML) 2 years since the start of his lymphoma treatment. His t-AML contains both t(3;3)(q26.2;q21) and monosomy 7, and the patient died of AML 10 months after the initial diagnosis of t-AML despite clinical remission. To the best of our knowledge, this is the first reported case of C-MYC DM-containing de novo large B-cell lymphoma, which was successfully treated with complete remission, but unfortunately died of t-AML harboring t(3;3)(q21;q26).


Subject(s)
Chromosomes, Human, Pair 3 , Leukemia, Myeloid, Acute/chemically induced , Leukemia, Myeloid, Acute/genetics , Lymphoma, Large B-Cell, Diffuse/genetics , Neoplasms, Second Primary/chemically induced , Neoplasms, Second Primary/genetics , Antineoplastic Combined Chemotherapy Protocols/adverse effects , Fatal Outcome , Flow Cytometry , Genes, bcl-2 , Genes, myc , Humans , Immunohistochemistry , In Situ Hybridization, Fluorescence , Karyotyping , Lymphoma, Large B-Cell, Diffuse/drug therapy , Male , Middle Aged , Mutation , Translocation, Genetic
4.
Diagn Cytopathol ; 43(10): 773-9, 2015 Oct.
Article in English | MEDLINE | ID: mdl-26119885

ABSTRACT

BACKGROUND: Several studies have emphasized the value of on-site evaluation of imprint cytology (IC) performed on core needle biopsies (CNB) of breast, prostate, and lung, in terms of adequacy. The aim of this study was to investigate the diagnostic value and accuracy of rapid on-site IC of CNB specimens performed for liver, lung, lymph node, bone, and soft tissue masses to evaluate whether on-site preliminary diagnosis is sufficiently accurate to allow earlier, more efficient planning of ancillary studies with decreased turnaround time. METHODS: This morphology-based, retrospective study was approved by our Institutional Review Board. A total of 252 consecutive CNBs with on-site IC on masses of liver, lung, lymph node, bone, and soft tissue were included in this study. IC was reviewed by two cytopathology fellows and two board-certified cytopathologists who gave a categorical diagnosis (malignant/benign/atypical) and exact diagnosis when possible. Preliminary diagnoses were compared with corresponding histological CNB diagnoses. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy were calculated. RESULTS: Of the 252 cases reviewed, 30 cases were classified as atypical by IC and evaluated separately. Of the remaining 222 cases, IC classified an average of 154 (70%) as malignant, 54 (24%) as benign, and 14 (6%) as nondiagnostic. The corresponding distribution of histological diagnoses was 151 (68%) malignant and 71 (32%) benign. Overall correlation of correct IC diagnoses was 80%, with a correlation of 91% in malignant cases and 59% in benign cases. Sensitivity, specificity, PPV, and NPV were 96, 74, 92, and 87%, respectively. Diagnostic accuracy was 91%. There was no statistically significant difference in the accuracy of categorical diagnoses between IC and final histologic diagnosis. Atypical cases by IC were more likely to be malignant in lung and liver lesions (71% and 58%, respectively), than in lymph node, bone, or soft tissue lesions (17%, 0%, 0%, respectively). An exact diagnosis on IC was rendered in 113 (51%) cases, with an accuracy of 73%. Sensitivity, specificity, PPV, and NPV were 94, 41, 70, and 83%, respectively. CONCLUSION: Rapid on-site IC is a useful and valuable tool for evaluating adequacy of CNB as well as providing accurate information on a categorical basis (malignant versus benign), with greater diagnostic accuracy in cases of malignancy than for benign lesions. IC provides high sensitivity with high PPV in lung, liver, lymph node, bone, and soft tissue lesions. Exact preliminary diagnoses have good diagnostic accuracy. Considering the fundamentally different diagnostic and therapeutic approach based on histologic tumor type (e.g., in lung malignancies), on-site preliminary diagnosis may allow appropriate triaging of tissue for early planning of ancillary studies with decreased turnaround times. In addition, early diagnosis may reduce anxiety in patients and expedite treatment planning.


Subject(s)
Biopsy, Large-Core Needle/methods , Diagnostic Errors , Image-Guided Biopsy/methods , Neoplasms/diagnosis , Bone and Bones/cytology , Bone and Bones/pathology , Female , Humans , Liver/cytology , Liver/pathology , Lung/cytology , Lung/pathology , Lymph Nodes/cytology , Lymph Nodes/pathology , Male , Reproducibility of Results , Retrospective Studies
5.
Lab Med ; 46(2): 153-8; quiz e30, 2015.
Article in English | MEDLINE | ID: mdl-25918196

ABSTRACT

Metanephric adenoma (MA) is a rare, benign renal tumor that can be found in individuals of any age. The histological features of this lesion are well known; however, cytological features of this entity have rarely been described. Herein, we present the case of a 37-year-old white woman with multiple endocrine dysfunctions and a renal mass. The diagnosis of metanephric adenoma was suggested as a differential diagnosis during imprint cytology; this diagnosis was later confirmed by core needle biopsy (CNB) and the results of immunostaining. To our knowledge, this is the first time in the literature that the diagnosis of metanephric adenoma was initially suggested on imprint cytologic testing of a CNB. We review the literature regarding the cytologic features and immunohistochemical reactivity of this tumor to raise awareness of this entity among pathologists and to distinguish it from other lesions, such as renal-cell carcinoma, so physicians can use this information to help them avoid calling for an unnecessary radical nephrectomy.


Subject(s)
Adenoma/pathology , Kidney Neoplasms/pathology , Adult , CD57 Antigens/metabolism , Diagnosis, Differential , Female , Humans , Keratins/metabolism , Kidney/pathology
6.
Lab Med ; 46(1): 51-4; quiz e13, 2015.
Article in English | MEDLINE | ID: mdl-25617393

ABSTRACT

BACKGROUND: Currently, the BD SurePath liquid-based Papanicolaou (Pap) test is approved by the U.S. Food and Drug Administration (FDA) only for Pap testing; however, these specimens are widely used for human papilloma virus (HPV) testing. METHODS: We retested, at 21 days after the collection date, 50 BD SurePath specimens that had initially tested positive for high-risk HPV using the Roche Cobas 4800 assay to compare repeat results of aged specimens to original results and evaluate false-negative results. RESULTS: Of 50 specimens that initially tested positive for HPV DNA with the Roche Cobas 4800 assay (average, 7 days), 8 tested negative when retested at 21 days after the collection date (false-negative rate, 16.0%). CONCLUSION: Aged BD SurePath-preserved Pap test specimens older than 21 days from collection date may produce false-negative HPV DNA testing results when testing with assays such as Roche Cobas 4800, most likely due to degradation of DNA. Guidelines are needed to limit specimen age to less than 2 weeks to prevent false-negative test results and to improve diagnostic accuracy and patient care.


Subject(s)
Human Papillomavirus DNA Tests/methods , Papillomaviridae/genetics , Papillomavirus Infections/virology , Humans , Papillomaviridae/classification , Papillomavirus Infections/diagnosis , Specimen Handling , Time Factors
8.
Foot (Edinb) ; 24(2): 94-8, 2014 Jun.
Article in English | MEDLINE | ID: mdl-24810296

ABSTRACT

STATEMENT OF PURPOSE: Verrucous carcinoma of the foot is often misdiagnosed initially as plantar warts. Delayed diagnostic treatments with the use of optimal biopsy techniques may result in significant hindrances for patient care and may often result in detrimental outcomes to the patient. With the use of various epidermal biopsy methods, early diagnostic treatment can be implemented to a slow-growing lesion unresponsive to topical agents preventing unfavorable pedal amputations. DESIGN: A case study of verrucous carcinoma of the foot with surgical resection was conducted along with a literature review. BACKGROUND: Verrucous carcinoma (VC) of the foot is known to be a rare, locally invasive, well-differentiated low-grade squamous cell carcinoma that may evolve from the human papilloma virus. This localized tumor of the foot often has low metastatic potential, however can be quite invasive. It is therefore pertinent to obtain adequate radiological studies when planning for surgical resection of this tumor. When localized to the foot, it often involves deep structures such as tendons, muscle & bone. Complete wide local excision of the tumor is essential to avoid recurrence. We present a case of verrucous carcinoma of the foot in a 46-year-old African American male with a past medical history of Human immunodeficiency virus (HIV) and Human papilloma virus (HPV). The patient refused a Transmetatarsal amputation. The loss of the third digit was a result of tissue loss following resection and an attempt to relocate a severely laterally dislocated 3rd digit, not PVD.


Subject(s)
Carcinoma, Verrucous/diagnosis , Foot Diseases/diagnosis , Orthopedic Procedures/methods , Skin Neoplasms/diagnosis , Surgical Flaps , Biopsy , Carcinoma, Verrucous/surgery , Diagnosis, Differential , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Skin Neoplasms/surgery
9.
Diagn Cytopathol ; 42(6): 506-13, 2014 Jun.
Article in English | MEDLINE | ID: mdl-24574374

ABSTRACT

BACKGROUND: Core needle biopsy (CNB) is a well-established, successful technique for the diagnosis of various organ system lesions. To increase diagnostic yield, on-site cytologic evaluation of adequacy (OCA) is routinely performed at many institutions. Numerous studies evaluating the impact of OCA on CNB have been published. However, little has been said regarding accuracy of OCA for bone lesions. METHODS: To evaluate this, we reviewed our experience during a two-year period, and compared OCA results with the final diagnosis of the corresponding CNB. For the study, diagnoses were divided into three categories: malignant, benign, and nonspecific/nondiagnostic findings. RESULTS: Sixty-one cases were included. During OCA, 25 cases were diagnosed as malignant, three cases as benign, and 33 as nonspecific/nondiagnostic. On histologic evaluation, 29 cases were malignant, 16 were benign, and 16 were classified as nonspecific/nondiagnostic. Concordance with final CNB diagnosis was seen in 100% of malignant, 67% of benign, and 45% of nonspecific/nondiagnostic on-site cytology evaluations. The overall diagnostic success rate of OCA for malignancy was 86% (25/29). The success rate of OCA for benign lesions was only 13%. Fifty-four percent of cases were diagnosed as nonspecific/nondiagnostic on-site. This category included four false negative cases. CONCLUSIONS: We conclude that for lesions with a suspicion of malignancy, OCA is a valuable adjuvant diagnostic tool. However, for cases with a benign or nonspecific clinical impression, OCA has a limited diagnostic role. Careful selection of cases in which OCA is beneficial is necessary to maintain accuracy and to limit procedure costs.


Subject(s)
Bone Neoplasms/pathology , Evaluation Studies as Topic , Adult , Biopsy, Large-Core Needle/economics , Biopsy, Large-Core Needle/standards , Bone Neoplasms/diagnosis , Cost-Benefit Analysis , Female , Humans , Male , Middle Aged , Sensitivity and Specificity
10.
Adv Anat Pathol ; 19(2): 108-10, 2012 Mar.
Article in English | MEDLINE | ID: mdl-22313838

ABSTRACT

Papillary lesions of the breast continue to be a diagnostic challenge because of the wide morphologic spectrum that may be encountered in these lesions. A rare entity termed "breast tumor resembling the tall cell variant of papillary thyroid carcinoma" is considered to be a subtype of papillary carcinoma of the breast. It is characterized by distinct morphologic features, setting it apart from typical papillary carcinoma of the breast. Its resemblance to papillary thyroid carcinoma in conjunction with the established terminology may cause confusion, resulting in unnecessary ancillary studies to exclude the association of this lesion with papillary thyroid carcinoma. As immunohistochemical and molecular studies have shown no evidence to support any association between this entity and papillary thyroid carcinoma, we propose to change the current terminology of "breast tumor resembling the tall cell variant of papillary thyroid carcinoma" to the term "tall cell variant of papillary breast carcinoma."


Subject(s)
Breast Neoplasms/classification , Breast Neoplasms/pathology , Carcinoma, Papillary/classification , Carcinoma, Papillary/pathology , Terminology as Topic , Female , Humans , Middle Aged
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