Rafał Pęksa - Academia.edu (original) (raw)

Papers by Rafał Pęksa

Oncology Letters, Dec 21, 2020

The accurate evaluation of human epidermal growth factor receptor 2 (HER2) status is essential fo... more The accurate evaluation of human epidermal growth factor receptor 2 (HER2) status is essential for the appropriate use of targeted therapies. An increased number of chromosome 17 centromere enumeration probe (CEP17) signals may underrate fluorescence in situ hybridization (FISH) outcomes, resulting in false-negative or a false-equivocal HER2 status assessment. The aim of the present study was to assess the frequency of CEP17 copy number increase (CNI), its effects on HER2 protein expression (and the subsequent effects on tumor cells), and the survival outcomes of patients with gastric cancer. Archival primary tumor samples from 244 patients that underwent gastric resection for adenocarcinoma were retrieved for both HER2 protein expression analysis (using immunochemistry) and HER2 gene amplification (using FISH). The associations between HER2 status, CEP17 CNI and multiple clinicopathological parameters (including survival outcome), were assessed. The relationship between CEP17 CNI a...

Advances in Dermatology and Allergology, Dec 3, 2014

Segmental neurofibromatosis or type V neurofibromatosis is a rare genodermatosis characterized by... more Segmental neurofibromatosis or type V neurofibromatosis is a rare genodermatosis characterized by neurofibromas, café-au-lait spots and neurofibromas limited to a circumscribed body region. The disease may be associated with systemic involvement and malignancies. The disorder has not been reported yet in the Polish medical literature. A 63-year-old Caucasian woman presented with a 20-year history of multiple, flesh colored, dome-shaped, soft to firm nodules situated in the right lumbar region. A histopathologic evaluation of three excised tumors revealed neurofibromas. No neurological and ophthalmologic symptoms of neurofibromatosis were diagnosed.

Seminars in Arthritis and Rheumatism

American Journal of Surgical Pathology

Supplemental Digital Content is available in the text. This study determined the frequency and th... more Supplemental Digital Content is available in the text. This study determined the frequency and the clinicopathologic and genetic features of colorectal carcinomas driven by oncogenic fusions of the anaplastic lymphoma kinase gene (ALK). Of the 8150 screened tumors, 12 (0.15%) were immunohistochemically ALK-positive with D5F3 antibody. These cancers harbored CAD-ALK (n=1), DIAPH2-ALK (n=2), EML4-ALK (n=2), LOC101929227-ALK (n=1), SLMAP-ALK (n=1), SPTBN1-ALK (n=4), and STRN-ALK (n=1) fusions, as detected by an RNA-based next-generation sequencing assay. ALK fusion carcinomas were diagnosed mostly in older patients with a 9:3 female predominance (median age: 72 y). All tumors, except a rectal one, occurred in the right colon. Most tumors were stage T3 (n=7) or T4 (n=3). Local lymph node and distant metastases were seen at presentation in 9 and 2 patients. These tumors showed moderate (n=6) or poor (n=3) glandular differentiation, solid medullary growth pattern (n=2), and pure mucinous morphology (n=1). DNA mismatch repair–deficient phenotype was identified in 10 cases. Tumor-infiltrating lymphocytes were prominent in 9 carcinomas. In 4 carcinomas, tumor cells showed strong, focal (n=3), or diffuse programmed death-ligand 1 immunoreactivity. CDX2 expression and loss of CK20 and MUC2 expression were frequent. CK7 was expressed in 5 tumors. Four patients died of disease within 3 years, and 7 were alive with follow-up ranging from 1 to 8 years. No mutations in BRAF, RAS, and in genes encoding components of PI3K-AKT/MTOR pathway were identified. However, 1 tumor had a loss-of-function PTEN mutation. Aberration of p53 signaling, TP53 mutations, and/or nuclear accumulation of p53 protein was seen in 9 cases. ALK fusion colorectal carcinomas are a distinct and rare subtype of colorectal cancers displaying some features of mismatch repair–deficient tumors.

wodowych (malignant peripheral nerve sheath tumour – MPNST) zwany inaczej schwannoma malignum jes... more wodowych (malignant peripheral nerve sheath tumour – MPNST) zwany inaczej schwannoma malignum jest rzadkim guzem stanowiącym ok. 5–10% wszystkich mięsaków tkanek miękkich. W pracy przedstawiono przypadek pacjentki z nabłonkowym typem guza MPNST (epithelioid malignant peripheral nerve sheath tumour – EMPNST) stanowiącym mniej niż 5% wszystkich guzów z grupy MPNST, zlokalizowanym na podudziu. Przed przyjęciem pacjentki na oddział wykonano biopsję aspiracyjną cienkoigłową (BAC) guza, której wynik wykazał obecność komórek czerniaka skóry, po czym pacjentka została zakwalifikowana do leczenia chirurgicznego. Podczas operacji zaobserwowano naciekanie mięśni i kości, a badanie histopatologiczne wskazało typ nabłonkowy MPNST. Wykonano zabieg cytoredukcyjny. Po 25 dniach doszło do znacznej progresji choroby (dodatkowy duży guz w pachwinie), w związku z czym wykonano amputację kończyny. Podczas zabiegu limfadenektomii guz umiejscowiony w pachwinie okazał się być nieoperacyjny. Autorzy w swoje...

Advances in Dermatology and Allergology/Postȩpy Dermatologii i Alergologii, 2014

50 cases of Schwannomas were studied for the differences between peripheral and central type tumo... more 50 cases of Schwannomas were studied for the differences between peripheral and central type tumors. There were 28 central and 22 peripheral cases. The morphological studies were performed in HE staining considering the ratio of Antoni A and Antoni B components, incidence of Verocay's bodies and vascularization of neoplasms. The immunophonotype was evaluated with the use of S-100, GFAP, CD31 and CD34 antibodies. CD31 antibody was used to assess vascular density. The obtained results were compared taking under consideration the localization of tumors (central vs peripheral) and AA and AB components. Results. In the central tumors AA and AB components were equally represented. In the peripheral cases AA component was more prevalent in smaller tumors, while in the bigger ones AB component was seen more frequently. Vcrocay's bodies were more frequently seen in the central tumors. The types of vascular changes in both components included: thick- wall hyalinized vessels, telangiec...

W literaturze mozna znaleźc tylko jeden opis przypadku marskości wątroby u chorego z rakiem wątro... more W literaturze mozna znaleźc tylko jeden opis przypadku marskości wątroby u chorego z rakiem wątrobowokomorkowym (HCC, hepatocellular carcinoma ) ze wspolistniejącą hemochromatozą dziedziczną, u ktorego przez 6 miesiecy stosowano leczenie sorafenibem. W niniejszej pracy przedstawiono przypadek chorego, pierwotnie bez marskości wątroby, u ktorego przypadkowo wykryto hemochromatoze w trakcie dlugotrwalej terapii sorafenibem z powodu HCC. Mezczyzne w wieku 53 lat z zaawansowanym HCC, u ktorego w momencie rozpoznania choroby nowotworowej nie stwierdzono marskości wątroby, leczono sorafenibem w dawce 400 mg dwa razy na dobe od października 2010 r. po przezskornej ablacji najwiekszego guzka w wątrobie. Uzyskano ujemne wyniki badan serologicznych w kierunku wirusowego zapalenia wątroby typu B i typu C. Po dwoch latach terapii inhibitorem kinaz w kolejnym badaniu obrazowym stwierdzono zmiany w wątrobie o cechach marskości odpowiadające hemochromatozie. Rozpoznanie choroby związanej ze spichr...

Introduction. Onychopapilloma is a very rare benign tumour of the nail matrix and nail bed. Clini... more Introduction. Onychopapilloma is a very rare benign tumour of the nail matrix and nail bed. Clinically onychopapilloma presents as longitudinal erytronychia, exceptionally as leukonychia or melanonychia. After nail avulsion, circumscribed, keratinized cone-shaped structure is seen. In histopathology distal subungual hyperkeratosis and nail matrix metaplasia and papillomatosis are observed. Etiopathogenesis of onychopapilloma is unknown. Treatment is only surgically. Objective. Presentation of first Polish case of onychopapilloma. Case report. A 32 year-old healthy woman was admitted to our department due to subungual longitudianal tumour of the right thumb, presented as erytronychia. Lesion was excised. Histopathologic examination confirmed diagnosis of onychopapilloma. Conclusions. Onychopapilloma is a rare nail apparatus condition with uncharacteristic clinical feature. Tumour should be distinguish from inflammatory and neoplastic disorders.

Biomedicines, 2021

The markers of the tumor microenvironment (TME) are promising prognostic and predictive factors i... more The markers of the tumor microenvironment (TME) are promising prognostic and predictive factors in oral squamous cell carcinoma (OSCC). The current study aims to analyze the immunohistochemical expression of programmed cell death-ligand 1 (PD-L1) and interleukin-33 (IL-33) in a cohort of 95 chemonaïve OSCCs. PD-L1 and IL-33 were assessed separately in tumor cells (TCs) and tumor-infiltrating lymphocytes (TILs). High PD-L1 expression in TILs was associated with better overall survival (OS) in univariate analysis. Tumors localized in the floor of the oral cavity and tongue tended to have a lower percentage of PD-L1-positive TCs when compared to other locations. PD-L1 expression on TCs had no prognostic significance when the whole cohort was analyzed. However, along with the T descriptor (TNM 8th), it was included in the multivariable model predicting death in carcinomas of the floor of the oral cavity and tongue (HR = 2.51, 95% CI = 1.97–5.28). In other locations, only nodal status wa...

Cancers

In the current study, we aimed to investigate whether expression of immune checkpoint proteins (V... more In the current study, we aimed to investigate whether expression of immune checkpoint proteins (V-domain Ig suppressor of T cell activation (VISTA) and programmed death-ligand 1 (PD-L1)) and markers of systemic inflammation could predict progression/relapse and death in the cohort of 180 patients with testicular germ-cell tumors (GCTs). Expression of PD-L1 and VISTA was assessed by immunohistochemistry utilizing tissue microarrays. To estimate systemic inflammation neutrophil-to-lymphocyte ratio (NLR), lymphocyte-to-monocyte ratio (LMR), and platelet-to-lymphocyte ratio (PLR) were calculated. We found high PD-L1 and VISTA expression on tumor-associated immune cells (TAICs) in 89 (49.44%) and 63 (37.22%) of GCTs, respectively, whereas tumor cells besides trophoblastic elements were almost uniformly negative. High PD-L1 was associated with seminomatous histology and lower stage. Relapses in stage I patients occurred predominantly in cases with low numbers of PD-L1 and VISTA-expressing...

Advances in Dermatology and Allergology

Introduction: The most common malignant neoplasm of the oral cavity is squamous cell carcinoma. I... more Introduction: The most common malignant neoplasm of the oral cavity is squamous cell carcinoma. It accounts for over 95% of malignant lesions in this area and is characterised by rapid spread and distant metastases. Aim: To collect and review the data on B7 family proteins as prognostic factors in oral squamous cell carcinoma and to describe their role in aggressive disease progression. Material and methods: A systematic review of the literature about B7-1, B7-2, B7-H2, B7-H3, B7-H4, B7-H5 (VISTA), B7-H6 and B7-H7, was carried out, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. 9 articles published before 22 May 2020 were included in the systematic review. Results: The biggest study group consisted of 201 patients and the smallest-40 patients. B7-1, B7-H3, B7-H4, B7-H5, B7-H6 and B7-H7 protein expressions were prognostic factors. Overall survival was significantly associated with B7-H3, B7-H5, B7-H6 and B7-H7. Immunohistochemistry was the diagnostic method used in all the studies. Conclusions: The data presented indicate the complexity of cellular and molecular processes related to the formation, development and invasion of oral cancer. Mutations in genes encoding the B7 family and changes in the B7 protein pathway may affect the prognosis of survival in patients with oral squamous cell carcinoma.

The progress in translational cancer research relies on access to well-characterized samples from... more The progress in translational cancer research relies on access to well-characterized samples from a representative number of patients and controls. The rationale behind our biobanking are explorations of post-zygotic pathogenic gene variants, especially in non-tumoral tissue, which might predispose to cancers. The targeted diagnoses are carcinomas of the breast (via mastectomy or breast conserving surgery), colon and rectum, prostate, and urinary bladder (via cystectomy or transurethral resection), exocrine pancreatic carcinoma as well as metastases of colorectal cancer to the liver. The choice was based on the high incidence of these cancers and/or frequent fatal outcome. We also collect age-matched normal controls. Our still ongoing collection originates from five clinical centers and after nearly 2-year cooperation reached 1711 patients and controls, yielding a total of 23226 independent samples, with an average of 74 donors and 1010 samples collected per month. The predominant d...

Journal of Clinical Oncology

e12554 Background: ER negative (-)/PgR positive (+) breast cancer (BC) is very uncommon and quest... more e12554 Background: ER negative (-)/PgR positive (+) breast cancer (BC) is very uncommon and questioned by many experts. We comprehensively reevaluated ER-/PgR+ BCs in the large cohort from Polish and Hungarian centers. Methods: FFPE blocks from 105 ER-/PgR+ tumors (45 breast biopsies and 64 post-operative samples from tumors not exposed to systemic therapy) were collected from 10 Polish and 3 Hungarian centers. In 60 cases available original slides with ER/PgR staining underwent reevaluation by 3 pathologists (MK, RP, WB) for ER and PgR expression by ASCO/CAP criteria. Subsequently, all samples were stained with 3 antibodies against ER (Dako monoclonal (MC) mouse anti-ERα, clone 1D5; Dako MC rabbit anti-ERα, clone EP1; VENTANA Roche MC rabbit anti-ERα, clone SP1), and PgR (Dako MC mouse anti-PgR, clone 636). If available, > 1 tissue block was used (av. 2.04 blocks/case, range 1-6). In 5 cases ESR1/PGR/ERBB2/MKi67 mRNA was measured by the Xpert® Breast Cancer STRAT4 (Cepheid, Sunn...

Współczesna Onkologia

We report on and discuss a case of a female patient diagnosed with breast cancer in 1996, which w... more We report on and discuss a case of a female patient diagnosed with breast cancer in 1996, which was histopathologically assessed as an invasive ductal carcinoma. The patient was admitted to our Department in 2017 with a liver metastasis of a neuroendocrine tumour. On admission she had no symptoms of an endocrinopathy and was in a good general condition. Due to unknown primary site of the metastasis and given the patient's history of breast cancer, it was suspected that the breast cancer was in fact a neuroendocrine tumour. This hypothesis was confirmed by comparing histopathological specimens of the breast and liver tumours using advanced pathological methods.