scholarly journals Bilateral Phyllodes Giant Tumor. A Case Report Analyzed by Array-CGH

Diagnostics ◽  
2020 ◽  
Vol 10 (10) ◽  
pp. 825
Author(s):  
Francesco Fortarezza ◽  
Federica Pezzuto ◽  
Gerardo Cazzato ◽  
Clelia Punzo ◽  
Antonio d’Amati ◽  
...  
Keyword(s):  
Array Cgh ◽  
Phyllodes Tumor ◽  
Molecular Classification ◽  
Left Breast ◽  
Comparative Genomic ◽  
Fish Analysis ◽  
Molecular Tests ◽  
Giant Tumor ◽  
Metastatic Risk ◽  
The Right

The breast phyllodes tumor is a biphasic tumor that accounts for less than of 1% of all breast neoplasms. It is classified as benign, borderline, or malignant, and can mimic benign masses. Some recurrent alterations have been identified. However, a precise molecular classification of these tumors has not yet been established. Herein, we describe a case of a 43-year-old woman that was admitted to the emergency room for a significant bleeding from the breast skin. A voluminous ulcerative mass of the left breast and multiple nodules with micro-calcifications on the right side were detected at a physical examination. A left total mastectomy and a nodulectomy of the right breast was performed. The histological diagnosis of the surgical specimens reported a bilateral giant phyllodes tumor, showing malignant features on the left and borderline characteristics associated with a fibroadenoma on the right. A further molecular analysis was carried out by an array-Comparative Genomic Hybridization (CGH) to characterize copy-number alterations. Many losses were detected in the malignant mass, involving several tumor suppressor genes. These findings could explain the malignant growth and the metastatic risk. In our study, genomic profiling by an array-CGH revealed a greater chromosomal instability in the borderline mass (40 total defects) than in the malignant (19 total defects) giant phyllodes tumor, reflecting the tumor heterogeneity. Should our results be confirmed with more sensitive and specific molecular tests (DNA sequencing and FISH analysis), they could allow a better selection of patients with adverse pathological features, thus optimizing and improving patient’s management.

scholarly journals CASE REPORT: METASTATIC PHYLLODE TUMOR

2020 ◽  
Vol 8 (10) ◽  
pp. 989-992
Author(s):  
E. Lemrabott ◽  
◽  
N. Abdelkader ◽  
A. Cheikh ◽  
N. Mamouni ◽  
...  
Keyword(s):  
Treatment Guidelines ◽  
Phyllodes Tumor ◽  
Left Breast ◽  
Split Thickness Skin Graft ◽  
Axillary Lymph ◽  
Skin Defect ◽  
X Ray ◽  
Phyllodes Tumors ◽  
Standard Treatment Guidelines ◽  
The Right

Rationale: Malignant phyllodes tumors are rare breast neoplasms that are associated with a 6.2% to 25% incidence rate of distant metastasis the lung is the most common metastatic site. To date, there is no consensus regarding the treatment of metastatic malignant phyllodes breast tumors. Patient concern: A 34-year-old woman was admitted into the gynecology department for a rapidly growing left breast tumor that was first noticed month prior. Diagnosis: Core needle biopsy revealed a malignant phyllodes tumor. A chest computed tomography tomography/CT showed metastatic lymph nodes that appeared to have spread to the right axilla She was subsequently followed by course of radiotherapy, she consulted again 3 months later for a productive cough, X-ray thorax in comparison with that made preoperatively: presence of the left peri-hilar nodules which were not present on the first X-ray Interventions: A left mastectomy with axillary lymph node dissection was conducted and a thoracoabdominal flap and a split thickness skin graft were performed for the skin defect. And radiotherapie adjuvant. Lessons: As standard treatment guidelines for metastatic malignant phyllodes tumors are lacking, we opted for the aforementioned aggressive treatments that resulted in complete remission of the lung metastasis. Therefore, aggressive treatment, whenever possible, is warranted.

scholarly journals Findings from ACGH in patient with psychomotor delay-case report

2019 ◽  
Vol 3 (3) ◽  
pp. 38
Author(s):  
Vanja Vidović ◽  
Nela Maksimović ◽  
Tatjana Damnjanović ◽  
Biljana Jekić ◽  
Irina Milovac ◽  
...  
Keyword(s):  
Case Report ◽  
Array Cgh ◽  
Karyotype Analysis ◽  
Comparative Genomic ◽  
Fish Analysis ◽  
Mild Mental Retardation ◽  
Psychomotor Delay ◽  
Left Hand ◽  
Highly Sensitive ◽  
Clinically Significant

Initial testing of children with psychomotor delays considers karyotype analysis   and   metabolic   tests.   However,   introduction of Array Comparative Genomic Hybridization (ACGH) has become the standard method of diagnostics worldwide. ACGH is a highly  sensitive  method  which  enables  detection  of  unbalanced  chromosomal  aberrations and  aneuploidies.  In  this  case  report,  a  patient  is  a  sixteen  year  old  girl  born  to  unrelated parents  with  mild  mental  retardation  and  psychomotor  delay, hyperacusis,  epilepsy,  silent nasal speech, clinodactyly of the V finger on left hand, as well as low set ears. Patient had a karyotype interpreted as normal using GTG band analysis.  Array  CGH  was  performed  using Agilent SurePrint  G3 custom  CGH+SNP  Microarray  8x60K  (UCSC,  hg19,  NCBI  Build  37, February,2009).  Results were analyzed by CytoGenomics 3.0 Agilent software.  Results of  aCGH  revealed  clinically  significant  duplication  of  17q25.1-q25.3  region  with  the  size  of~7.96Mb. Within the duplicated region 217 genes are present, of which 36 are described as OMIM morbid.  Duplications  of  similar  size  are  described  in  DECIPHER  date  base  in  patients with  psychomotor  delay,  hyperactivity  and  neoplasm  of  CNS.  Besides duplication, a ~755kb clinically significant deletion was detected in the 17q25.3 region. Deletion involves 18 genes of which 2 are described as OMIM morbid: TBCD (MIM604649) and ZNF750 (MIM610226). Patient with similar deletion was described in DECIPHER date base with notable psychomotor delay.  Based  on  these  results  FISH  analysis  is  recommended  for  both  parents  in  order  to determine the possible carrier of inversion in the region of 17qter.

Array-CGH Analysis of T-ALL Patients and Cell Lines.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 4469-4469
Author(s):  
Idoya Lahortiga ◽  
Carlos Graux ◽  
Nicole Mentens ◽  
Katrien Van Roosbroeck ◽  
Kim De Keersmaecker ◽  
...  
Keyword(s):  
Tyrosine Kinase ◽  
Human Genome ◽  
Cell Lines ◽  
Tyrosine Kinases ◽  
Array Cgh ◽  
Genetic Alterations ◽  
Comparative Genomic ◽  
Fish Analysis ◽  
Protein Tyrosine ◽  
A Genome

Abstract Background Molecular analysis of T-cell acute lymphoblastic leukemia (T-ALL) has provided evidence that a stepwise alteration of at least four specific pathways is required during transformation of thymocytes to leukemic T-cells. Genetic alterations in hematopoietic precursor cells lead to loss of cell cycle control, impaired differentiation, proliferation and survival advantages, and unlimited self-renewal capacity. These defects include inactivation of CDKN2A (P16) present in 96 % of the patients, deregulated expression of transcription factors, and mutation of NOTCH1 in 56% of patients. However, the molecular lesions leading to the proliferative and survival advantages of T-ALL cells are less well characterized, remaining unknown in 80 % of the T-ALLs. Aims Our aim was to set up a genome-wide analysis of T-ALL in order to detect cryptic deletions and amplifications, with a special focus on the 90 protein tyrosine kinase genes present in the human genome. Methods We used the array-CGH (micro-array comparative genomic hybridization) technology with slides containing genomic BAC probes spaced every 1 Mb over the human genome. An additional 480 probes were added covering the genomic locations of each of the 90 protein tyrosine kinases genes. A total of 27 T-ALL cases and 12 cell lines were included in the study. Results An interstitial deletion on chromosome 9p24 directly upstream of JAK2 was identified in one patient. The deletion was confirmed by FISH. Quantitative PCR (qPCR) analyses indicated that the deletion was 700 kb in size including exons 1–4 of JAK2. In two cell lines, deletions affecting ALK and ERBB4 were detected. Molecular analyses to characterize the possible presence of fusion transcripts involving tyrosine kinases are in progress. We did not detected other rearrangements involving tyrosine kinase genes in neither of the 26 other T-ALL cases nor in the 10 cell lines, indicating that cryptic deletions or amplifications involving tyrosine kinase genes are relatively rare in T-ALL. The most frequent aberration was the deletion of CDKN2A (16/27 cases and 9/12 cell lines) ranging from only one clone to almost the complete 9p arm. MYB duplication was found in two cases and 4 cell lines, and was confirmed by qPCR and FISH analysis. Two of the 4 cell lines had overexpression of MYB detected by qPCR, which can interfere with apoptosis enhancing the survival of the cells, as has been previously described. PTEN deletion was present in one case and one cell line. Other unbalanced aberrations of various size were detected: del (2p) in 5/12 cell lines, del (5q) in 1/27 samples and 4/12 cell lines, del(6q) in 3/27 samples and 2/12 cell lines, or del(9p) in 5/27 samples and 4/12 cell lines. Some of these rearrangements were not observed by standard cytogenetics. Strikingly, cell lines had significantly more chromosomal abnormalities than primary T-ALL cases. Conclusions We detected a novel cryptic rearrangement of JAK2 in one T-ALL case, and duplication of MYB in two T-ALL cases (2/27; 7.5%) and four cell lines (4/12; 33%). Our results suggest that cryptic deletions or amplifications involving tyrosine kinase genes are relatively rare in T-ALL.

scholarly journals Malignant phyllodes tumor in the right breast and invasive lobular carcinoma within fibroadenoma in the other: case report

2000 ◽  
Vol 118 (2) ◽  
pp. 46-48 ◽  
Author(s):  
Luiz Henrique Gebrim ◽  
Júlio Roberto de Macedo Bernardes Júnior ◽  
Afonso Celso Pinto Nazário ◽  
Cláudio Kemp ◽  
Geraldo Rodrigues de Lima
Keyword(s):  
Case Report ◽  
Lymph Nodes ◽  
Invasive Lobular Carcinoma ◽  
Hormone Replacement ◽  
Lobular Carcinoma ◽  
Phyllodes Tumor ◽  
Left Breast ◽  
Axillary Lymph ◽  
Axillary Lymphadenectomy ◽  
The Right

CONTEXT: The malignant variety of the phyllodes tumor is rare. The occurrence of invasive lobular carcinoma within fibroadenoma is rare as well. DESIGN: Case report. CASE REPORT: A 58-year-old black female patient was referred to the Mastology unit of the Department of Gynecology, Federal University of São Paulo / Escola Paulista de Medicina, in February 1990, presenting an ulcerated tumor in the right breast with fast growth over the preceding six months. She was a virgin, with meno-pause at the age of 45 years and had not undergone hormone replacement treatment. The physical examination showed, in her right breast, an ulcerated tumor of 20 x 30 cm which was not adher-ent to the muscle level, multilobular and with fibroelastic consistency. The axillary lymph nodes were not palpable. The left breast showed a 2 x 3 cm painless, movable nodule, with well-defined edges, and fibroelastic consistency. We performed left-breast mammography, which showed several nodules with well-defined edges, the largest being 2 x 3 cm and exhibiting rough calcification and grouped microcalcifications within it. The patient underwent a frozen biopsy that showed a malignant variant of the phyllodes tumor in the right breast and fibroadenoma in the left one. After that, we performed a total mastectomy in the right breast and an excision biopsy in the left one. Paraffin study confirmed the frozen biopsy result from the right breast, yet we observed that in the interior of the fibroadenoma that was removed on the left, there was a focal area of invasive lobular carcinoma measuring 0.4 cm. The patient then underwent a modi-fied radical mastectomy with total axillary lymphadenectomy. None of the 21 dissected lymph nodes showed evidence of metastasis. In the follow-up, the patient evolved asymptomatically and with normal physical and laboratory examination results up to July 1997.

scholarly journals P11.53 Genotype trumps phenotype: Oligodendroglioma and oligodendroglioma like tumors- A 1p19q fluorescence in situ hybridization based study at a tertiary referral centre in north India

2019 ◽  
Vol 21 (Supplement_3) ◽  
pp. iii55-iii55
Author(s):  
A Dewan ◽  
L Kini ◽  
S Sharma ◽  
M Bhardwaj
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Comparative Genomic ◽  
Chromosome Loss ◽  
Fish Analysis ◽  
Idh Mutation ◽  
Wild Type ◽  
Molecular Tests ◽  
Cns Tumours

Abstract BACKGROUND The 2016 WHO update of CNS tumours defines oligodendroglioma as a diffusely infiltrating glioma with IDH 1 or IDH 2 mutation and co-deletion of chromosomal arms 1p and 19q. We evaluated the role of 1p19q testing by Fluorescence in situ hybridization (FISH) in the diagnosis and correct classification of CNS tumours in accordance with WHO 2016 classification and exclusion of morphological mimickers of oligodendrogliomas. MATERIAL AND METHODS A retrospective analysis of CNS tumours was carried out that were tested for 1p19q co-deletion by FISH over a period of fourteen months at our institute. Correlation with tumour morphology as well as other molecular tests (IDH mutation and MGMT) where available was then done. A tumour was considered to have 1p or 19q deletion when the 1p probe to 1q probe ratio (1p/1q) or the 19q probe to 19p probe ratio (19q/19p) was <0.80. RESULTS A total of 125 cases underwent FISH testing for 1p19q co-deletion over a period of last fourteen months at our institute with 74 male patients and 51 women. Thirty-eight of the 125 evaluated patients demonstrated 1p19q co-deletion on FISH. These included 25 oligodendrogliomas, 9 astrocytomas (Grade II/III) and 4 cases of oligoastrocytomas by morphology. Out of these cases, 21 cases had a co-existent IDH mutation, while two cases were IDH wild type and for 15 cases the status was unknown. Rest of the 87 patients were negative for 1p19q co-deletion and included cases of oligodendroglioma, other gliomas (pilocytic astrocytoma, oligoastrocytoma, glioblastoma) and few glioneuronal tumours (ganglioglioma, dysembryoplastic neuroepithelial tumour and central neurocytoma). CONCLUSION 1. Analysis of 1p19q co-deletion by FISH plays an important role in correctly identifying cases of oligodendroglioma as shown in our study. This is important as it is both a predictive as well as prognostic biomarker 2. In cases with co-deletion but IDH wild type status, the 1p19q status should be confirmed by other methods such as comparative genomic hybridization to confirm the presence of whole chromosome loss.3. FISH analysis also helps in excluding morphologic mimics of oligodendroglioma such as glioneuronal tumours and pilocytic astrocytomas in young patients. 4. However, in a resource limited country like ours, a good morphological diagnosis should still form the basis for FISH and other molecular tests to avoid unnecessary testing.

scholarly journals Skin-Reducing Mastectomy and Immediate Reconstruction for a Large Recurrent Borderline Phyllodes Tumor

2021 ◽  
Vol 11 (3) ◽  
pp. 1224
Author(s):  
Daciana Grujic ◽  
Horia Cristian ◽  
Teodora Hoinoiu ◽  
Codruta Diana Miclauș ◽  
Simona Cerbu ◽  
...  
Keyword(s):  
Phyllodes Tumor ◽  
Left Breast ◽  
Breast Hypertrophy ◽  
Immediate Reconstruction ◽  
Case Presentation ◽  
Surgical Decision ◽  
Simple Mastectomy ◽  
Resection Specimen ◽  
The Right

Background: Large recurrent phyllodes breast tumors are often malignant. Therefore, when taking the surgical decision, a simple mastectomy and immediate reconstruction must be considered. Case presentation: The patient, aged 40 years, with a benign phyllodes tumor in the left breast, having a recurrence 2 years after, with 4–7 cm conglomerate tumor masses, was subjected to skin-reducing mastectomy, breast reconstruction with a silicone mammary implant in the left breast, and symmetrization of the right breast. Discussion and conclusions: In the case of patients with breast hypertrophy and gigantomastia (cup size D–F), skin-reducing mastectomy and immediate reconstruction with an implant can be the option. It is important for the resection specimen to include the skin tissue above the tumor. After 14 months of follow-up, there was no recurrence of the lesions on a clinical examination, ultrasonography, or MRI.

scholarly journals Jacobsen syndrome and neonatal bleeding: report on two unrelated patients

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Gregorio Serra ◽  
Luigi Memo ◽  
Vincenzo Antona ◽  
Giovanni Corsello ◽  
Valentina Favero ◽  
...  
Keyword(s):  
Developmental Delay ◽  
De Novo ◽  
Comparative Genomic ◽  
Fish Analysis ◽  
Variable Degree ◽  
Jacobsen Syndrome ◽  
Contiguous Gene ◽  
Clinical Consequences ◽  
11Q Deletion

Abstract Introduction In 1973, Petrea Jacobsen described the first patient showing dysmorphic features, developmental delay and congenital heart disease (atrial and ventricular septal defect) associated to a 11q deletion, inherited from the father. Since then, more than 200 patients have been reported, and the chromosomal critical region responsible for this contiguous gene disorder has been identified. Patients’ presentation We report on two unrelated newborns observed in Italy affected by Jacobsen syndrome (JBS, also known as 11q23 deletion). Both patients presented prenatal and postnatal bleeding, growth and developmental delay, craniofacial dysmorphisms, multiple congenital anomalies, and pancytopenia of variable degree. Array comparative genomic hybridization (aCGH) identified a terminal deletion at 11q24.1-q25 of 12.5 Mb and 11 Mb, in Patient 1 and 2, respectively. Fluorescent in situ hybridization (FISH) analysis of the parents documented a de novo origin of the deletion for Patient 1; parents of Patient 2 refused further genetic investigations. Conclusions Present newborns show the full phenotype of JBS including thrombocytopenia, according to their wide 11q deletion size. Bleeding was particularly severe in one of them, leading to a cerebral hemorrhage. Our report highlights the relevance of early diagnosis, genetic counselling and careful management and follow-up of JBS patients, which may avoid severe clinical consequences and lower the mortality risk. It may provide further insights and a better characterization of JBS, suggesting new elements of the genotype-phenotype correlations.

scholarly journals Malignant Phyllodes Tumor Including Aneurysmal Bone Cyst-Like Areas in Pregnancy - a Case Report and Review of the Literature

Breast Care ◽  
2016 ◽  
Vol 11 (4) ◽  
pp. 291-294 ◽  
Author(s):  
Canan Kelten ◽  
Ceren Boyaci ◽  
Cem Leblebici ◽  
Kemal Behzatoglu ◽  
Didem C. Trabulus ◽  
...  
Keyword(s):  
Case Report ◽  
Bone Cyst ◽  
Clinical Breast Examination ◽  
Phyllodes Tumor ◽  
Breast Cancer Diagnosis ◽  
Left Breast ◽  
Malignant Phyllodes Tumor ◽  
Her Family ◽  
Simple Mastectomy ◽  
Clinical Breast

Background: Malignant phyllodes tumors of the breast are rare biphasic neoplasms. Only few cases related to pregnancy have been reported. Case Report: A 37-year-old woman presented with swelling and pain in her left breast as well as hyperemia on the breast skin, 4 weeks after labor. In her family history, her aunt and maternal cousin had had a breast cancer diagnosis. Clinical evaluation of the patient was consistent with a breast abscess. Therefore, abscess drainage and biopsy from the cavity wall were performed. However, the biopsy was diagnosed as malignant phyllodes tumor. An evaluation by ultrasonography showed a well-defined hypoechoic mass with many cystic spaces covering the entire breast tissue. Therefore, a simple mastectomy was performed. Microscopic examination revealed a high-grade malignant phyllodes tumor. Additionally, bone cyst-like areas in the form of sponge-like blood-filled non-endothelialized spaces were observed. Conclusions: Since the breasts become larger due to the physiological changes during pregnancy, any underlying breast lesions may be obscured. Therefore, clinical breast examination in the first visit of pregnancy is important.

scholarly journals Granulocyte-colony stimulating factor-producing malignant phyllodes tumor of the breast: a rare case

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Kimihisa Mizoguchi ◽  
Kazuhisa Kaneshiro ◽  
Makoto Kubo ◽  
Yoshihiko Sadakari ◽  
Yoshizo Kimura ◽  
...  
Keyword(s):  
Rare Case ◽  
Phyllodes Tumor ◽  
Left Breast ◽  
Lymph Node Biopsy ◽  
Granulocyte Colony Stimulating Factor ◽  
Colony Stimulating Factor ◽  
Malignant Phyllodes Tumor ◽  
Csf Levels ◽  
Wbc Count ◽  
Stimulating Factor

Abstract Background Granulocyte-colony stimulating factor (G-CSF)-producing tumors can cause leukocytosis despite an absence of infection. G-CSF-producing tumors have been reported in various organs such as the lung, esophagus, and stomach but rarely in the breast. We report a case of G-CSF-producing malignant phyllodes tumor of the breast. Case presentation An 84-year-old woman visited our hospital complaining of a lump in her left breast without fever and pain. Laboratory tests revealed elevated white blood cell (WBC) count and G-CSF levels. A malignant tumor of the breast was diagnosed by core needle biopsy. We performed a total mastectomy and sentinel lymph node biopsy. The tumor was identified as a G-CSF-producing malignant phyllodes tumor. Within 7 days after surgery, the patient’s WBC count and G-CSF level had decreased to normal levels. She is alive without recurrence 13 months after surgery. Conclusions We encountered a rare case of G-CSF-producing malignant phyllodes tumor of the breast. PET–CT revealed diffuse accumulation of FDG in the bone. Phyllodes tumors need to be differentiated from bone metastasis, lymphoma, and leukemia. We must be careful to not mistake this type of tumor for bone marrow metastasis.

Predominance of RAD21 and ERBB2 amplification and progesterone receptor positivity in tumors of the right breast support breast cancer lateralization.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e12557-e12557
Author(s):  
Zachary Spigelman ◽  
Jo-Ellen Murphy
Keyword(s):  
Breast Cancer ◽  
Progesterone Receptor ◽  
Cancer Patients ◽  
Breast Tumors ◽  
Left Breast ◽  
Breast Cancers ◽  
Her2 Expression ◽  
Breast Cancer Patients ◽  
The Right ◽  
Chi Square Analysis

e12557 Background: Biologic lateralization broadly impacts breast cancer. Malignancies originating in the left breast compared to the right breast tend to be more frequent, larger and of poorer prognosis. Left breast tumors respond differently to HER2-neu signaling and have lateralized Ki67 expression. In a prior study a right-left asymmetry in the neutrophil/lymphocyte ratio (NLR) of breast cancers was identified (ASCO 2018, e13094). As a follow-up, retrospective analysis of results from comprehensive genomic profiling (CGP) of right and left side breast cancer specimens was performed to determine a potential genomic etiology for the observed NLR lateralization. Methods: Tumors from 43 consecutive breast cancer patients underwent analysis for all classes of genomic alterations by hybrid capture-based CGP (Foundation Medicine). The CGP results from the 25 left- and 18 right-sided breast cancer samples were analyzed along with the histologic grade and status of estrogen receptor (ER), progesterone receptor (PR), and HER2 expression. Results: In this cohort of advanced breast cancer patients (stage 3-4), no statistically significant differences in lateralization were identified based on patient age, tumor stage, or frequency of ER or Her2 expression (Table). A predominance of PR positivity (p=0.14 chi square analysis) and amplifications in the ERBB2 (p=0.37) and RAD21 (p=0.08) genes were detected in right side tumors. Conclusions: Together with the prior study, trends in asymmetry based on genomic, pathologic, and immunohistologic differences have been detected in breast cancers, including an increased incidence of ERBB2 and RAD21 amplification in right-side breast tumors in this cohort. The predominance of lower PR positivity in the left breast tumors may be due to preferential hypermethylation, consistent with reports that it mediates biologic lateralization changes, downregulates PR expression, and alters amplification rates. Epigenetic methylation, may contribute to asymmetric breast cancer biology and have implications for therapeutic strategy. Further study is warranted.[Table: see text]

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