Successful evaluation of EGFR mutational status in small biopsies may be hampered by the number o... more Successful evaluation of EGFR mutational status in small biopsies may be hampered by the number of tumor cells present in the tissue section. The aim of the present study was to determine the minimal number of tumor cells necessary for a reliable EGFR mutation testing in lung adenocarcinoma. The minimal number of tumor cells was determined experimentally in surgical specimens of 12 EGFR-mutated cases. DNA was extracted from progressively smaller tumor areas obtained with laser capture microdissection and was tested using a real-time PCR technique. The results were then validated in tissue sections of 120 small biopsies, where total number of tumor cells and percent tumor cells were determined in H&E digitalized slides. The laser capture microdissection study revealed that a tumor area of 0.12 mm(2), containing 140 ± 34 tumor cells, was large enough to allow detection of EGFR mutations in 11 of 12 cases. Moreover, it was also demonstrated that EGFR gene amplification and/or chromosom...
Lichen amyloidosus is a cutaneous dermatosis clinically characterized by an hyperkeratotic browni... more Lichen amyloidosus is a cutaneous dermatosis clinically characterized by an hyperkeratotic brownish-grey papular eruption located on trunk and extremities, associated to severe pruritus. Histologically it is characterized by amyloid deposits in the papillary derma. Amyloid is an amorphous substance, probably derived by apoptotic keratinocites and other protein such as Apolipoprotein E. The exact pathogenesis of this deposition is not yet understood but some factors can act as favourable agents, such as pruritus. In fact this dermatosis is often associated to intensely pruritic conditions. Its treatment is very difficult but is important, because patients refer a bad quality of life. In literature have been described a lot of therapeutic options, often unefficacious. We describe herein the case of a 39-year old patient affected by Lichen amyloidosis, treated with acitretin a good improvement of cutaneous lesions and a complete resolution of pruritus after only three weeks of treatmen...
Iatrogenic immunodeficiency-associated lymphoproliferative disorders are a heterogeneous group of... more Iatrogenic immunodeficiency-associated lymphoproliferative disorders are a heterogeneous group of rare diseases related to therapy with immunosuppressive drugs for conditions other than the transplant setting [1]. The first description concerned patients who developed Hodgkin’s disease or Hodgkin-like lymphoproliferations after longterm, low-dose methotrexate therapy [2–4]. Very recently, in a multicenter study, 26 cases of a distinct clinicopathologic entity, the EBV+ mucocutaneous ulcer, were described [5]. The disease affects immunosuppressed and/or elderly patients, and consists of isolated, sharply circumscribed ulcers involving oropharyngeal mucosa, skin or gastrointestinal tract. Lesions are characterized by the presence of a polymorphous inflammatory-like infiltrate, in which various numbers of atypical large B cells with Hodgkin/Reed-Sternberg-like (H/RS-like) morphology are embedded. The atypical B cells are EBER+/CD30+/CD15+/ PAX5+/MUM-1+. IGH clonality was detected in 7 of 18 cases (39%); TCR clonality in 6 of 16 cases (38%); moreover, a monoclonal IGH rearrangement associated with restricted/ clonal T cell responses was observed in 3 of 16 cases. In the present report, we describe a case of a malignant lymphoproliferative disorder of the large intestine with features of Epstein–Barr virus (EBV)+ mucocutaneous ulcer; the novel contribution provided by our study is the demonstration of concomitant clonal IGH and TCRγ rearrangements in the neoplastic B cells with H/RS-like morphology.
Early detection and surgery represent the mainstay of treatment for superficial melanoma, but for... more Early detection and surgery represent the mainstay of treatment for superficial melanoma, but for high risk lesions (Breslow’s thickness >0.75 mm) an effective adjuvant therapy is lacking. Vitamin D insufficiency plays a relevant role in cancer biology. The biological effects of 1α hydroxycholecalciferol on experimental melanoma models were investigated. 105 melanoma patients were checked for 25-hydroxycholecalciferol (circulating vitamin D) serum levels. Human derived melanoma cell lines and in vivo xenografts were used for studying 1α-hydroxycholecalciferol-mediated biological effects on cell proliferation and tumor growth. 99 out of 105 (94%) melanoma patients had insufficient 25-hydroxycholecalciferol serum levels. Interestingly among the six with vitamin D in the normal range, five had a diagnosis of in situ/microinvasive melanoma. Treatment with 1α-hydroxycholecalciferol induced antiproliferative effects on melanoma cells in vitro and in vivo, modulating the expression of c...
Successful evaluation of EGFR mutational status in small biopsies may be hampered by the number o... more Successful evaluation of EGFR mutational status in small biopsies may be hampered by the number of tumor cells present in the tissue section. The aim of the present study was to determine the minimal number of tumor cells necessary for a reliable EGFR mutation testing in lung adenocarcinoma. The minimal number of tumor cells was determined experimentally in surgical specimens of 12 EGFR-mutated cases. DNA was extracted from progressively smaller tumor areas obtained with laser capture microdissection and was tested using a real-time PCR technique. The results were then validated in tissue sections of 120 small biopsies, where total number of tumor cells and percent tumor cells were determined in H&E digitalized slides. The laser capture microdissection study revealed that a tumor area of 0.12 mm(2), containing 140 ± 34 tumor cells, was large enough to allow detection of EGFR mutations in 11 of 12 cases. Moreover, it was also demonstrated that EGFR gene amplification and/or chromosom...
Lichen amyloidosus is a cutaneous dermatosis clinically characterized by an hyperkeratotic browni... more Lichen amyloidosus is a cutaneous dermatosis clinically characterized by an hyperkeratotic brownish-grey papular eruption located on trunk and extremities, associated to severe pruritus. Histologically it is characterized by amyloid deposits in the papillary derma. Amyloid is an amorphous substance, probably derived by apoptotic keratinocites and other protein such as Apolipoprotein E. The exact pathogenesis of this deposition is not yet understood but some factors can act as favourable agents, such as pruritus. In fact this dermatosis is often associated to intensely pruritic conditions. Its treatment is very difficult but is important, because patients refer a bad quality of life. In literature have been described a lot of therapeutic options, often unefficacious. We describe herein the case of a 39-year old patient affected by Lichen amyloidosis, treated with acitretin a good improvement of cutaneous lesions and a complete resolution of pruritus after only three weeks of treatmen...
Iatrogenic immunodeficiency-associated lymphoproliferative disorders are a heterogeneous group of... more Iatrogenic immunodeficiency-associated lymphoproliferative disorders are a heterogeneous group of rare diseases related to therapy with immunosuppressive drugs for conditions other than the transplant setting [1]. The first description concerned patients who developed Hodgkin’s disease or Hodgkin-like lymphoproliferations after longterm, low-dose methotrexate therapy [2–4]. Very recently, in a multicenter study, 26 cases of a distinct clinicopathologic entity, the EBV+ mucocutaneous ulcer, were described [5]. The disease affects immunosuppressed and/or elderly patients, and consists of isolated, sharply circumscribed ulcers involving oropharyngeal mucosa, skin or gastrointestinal tract. Lesions are characterized by the presence of a polymorphous inflammatory-like infiltrate, in which various numbers of atypical large B cells with Hodgkin/Reed-Sternberg-like (H/RS-like) morphology are embedded. The atypical B cells are EBER+/CD30+/CD15+/ PAX5+/MUM-1+. IGH clonality was detected in 7 of 18 cases (39%); TCR clonality in 6 of 16 cases (38%); moreover, a monoclonal IGH rearrangement associated with restricted/ clonal T cell responses was observed in 3 of 16 cases. In the present report, we describe a case of a malignant lymphoproliferative disorder of the large intestine with features of Epstein–Barr virus (EBV)+ mucocutaneous ulcer; the novel contribution provided by our study is the demonstration of concomitant clonal IGH and TCRγ rearrangements in the neoplastic B cells with H/RS-like morphology.
Early detection and surgery represent the mainstay of treatment for superficial melanoma, but for... more Early detection and surgery represent the mainstay of treatment for superficial melanoma, but for high risk lesions (Breslow’s thickness >0.75 mm) an effective adjuvant therapy is lacking. Vitamin D insufficiency plays a relevant role in cancer biology. The biological effects of 1α hydroxycholecalciferol on experimental melanoma models were investigated. 105 melanoma patients were checked for 25-hydroxycholecalciferol (circulating vitamin D) serum levels. Human derived melanoma cell lines and in vivo xenografts were used for studying 1α-hydroxycholecalciferol-mediated biological effects on cell proliferation and tumor growth. 99 out of 105 (94%) melanoma patients had insufficient 25-hydroxycholecalciferol serum levels. Interestingly among the six with vitamin D in the normal range, five had a diagnosis of in situ/microinvasive melanoma. Treatment with 1α-hydroxycholecalciferol induced antiproliferative effects on melanoma cells in vitro and in vivo, modulating the expression of c...
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Papers by Maria Giubettini