RESUMO
To obtain insight into the ontogeny of mantle cell lymphoma (MCL), we assessed 206 patients from a morphological, immunohistochemical, and immunogenetic perspective. Our series included nodal (n = 151), extranodal (n = 28), and primary splenic (n = 27) MCL cases. Skewing of the immunoglobulin heavy variable (IGHV) gene repertoire was noted, with only four IGHV genes accounting for 46% of cases and approximately 70% of cases (107/154) bearing an imprint of somatic hypermutation (SHM) ranging from minimal to pronounced. Interestingly, a distinctive immunophenotypic and immunogenetic profile was identified for primary splenic MCL, which was enriched for DBA.44-positive cases (P < 0.001) and used the IGHV1-8 gene more frequently (P = 0.02) compared to nodal or extranodal cases, alluding to distinct immunopathogenetic and antigen selection processes. Expression of CD27 (considered a marker of activated B cells) was generally dissociated from SHM and was more prevalent in cases with no or minimal/borderline SHM. These findings support the idea that antigen drive is relevant for most MCL cases, although the specific antigens and the precise location of affinity maturation remain to be elucidated. Moreover, they raise the intriguing hypothesis of multiple cellular origins for MCL.
Assuntos
Biomarcadores Tumorais/genética , Imunogenética , Imunoglobulinas/genética , Linfoma de Célula do Manto/genética , Antígenos/genética , Antígenos/metabolismo , Biomarcadores Tumorais/metabolismo , Medula Óssea/metabolismo , Medula Óssea/patologia , Estudos de Coortes , Europa (Continente) , Humanos , Imunoglobulinas/metabolismo , Imuno-Histoquímica , Imunofenotipagem , Linfoma de Célula do Manto/imunologia , Linfoma de Célula do Manto/patologia , Baço/metabolismo , Baço/patologia , Membro 7 da Superfamília de Receptores de Fatores de Necrose Tumoral/genética , Membro 7 da Superfamília de Receptores de Fatores de Necrose Tumoral/metabolismoRESUMO
This is a report of an angiolipoma of the thyroid gland, an extremely rare entity. A thorough search of the literature revealed only one previously reported example. The patient was a 77-year-old woman with a history of a nodular lesion of the thyroid in the context of a multinodular goiter. A fine needle aspiration highlighted the presence of abundant adipocytes associated with numerous dilated vessels. Histopathologic examination of the lobectomy specimen documented the presence of a tumor composed of two main elements, namely, mature adipocytes and proliferating vessels, some of the latter containing fibrin thrombi.
Assuntos
Angiolipoma/diagnóstico , Neoplasias da Glândula Tireoide/diagnóstico , Adipócitos/patologia , Idoso , Angiolipoma/patologia , Biópsia por Agulha Fina , Vasos Sanguíneos/patologia , Feminino , Humanos , Neoplasias da Glândula Tireoide/patologiaRESUMO
A case of mediastinal parathyroid carcinoma is reported in a 10-year-old child. This is the first documented case of this occurrence in the authors' knowledge.
Assuntos
Neoplasias do Mediastino/patologia , Neoplasias das Paratireoides/patologia , Criança , Humanos , Hiperparatireoidismo/etiologia , Imuno-Histoquímica , Masculino , Neoplasias do Mediastino/complicações , Neoplasias do Mediastino/metabolismo , Neoplasias das Paratireoides/complicações , Neoplasias das Paratireoides/metabolismoAssuntos
Melanoma/patologia , Melanose/patologia , Neoplasias Retais/patologia , Idoso , Antígenos de Neoplasias/metabolismo , Biomarcadores Tumorais/metabolismo , Feminino , Humanos , Mucosa Intestinal/metabolismo , Mucosa Intestinal/patologia , Melanócitos/metabolismo , Melanócitos/patologia , Melanoma/complicações , Melanoma/metabolismo , Antígenos Específicos de Melanoma , Melanose/complicações , Melanose/metabolismo , Proteínas de Neoplasias/metabolismo , Neoplasias Retais/complicações , Neoplasias Retais/metabolismo , Proteínas S100/metabolismoRESUMO
The authors report on a case of a granular cell tumor of the parotid gland, which constitutes an extremely rare neoplasm. The infiltrative growth of the tumor may pose the question of malignancy, especially on frozen section. The objective of this report was to function as a reminder of this entity for every pathologist that deals with a biopsy from a lesion of the parotid gland, and furthermore, to keep the unwary away from a possible diagnostic pitfall. A meticulous search of the literature revealed only 4 similar cases.
Assuntos
Tumor de Células Granulares/patologia , Glândula Parótida/patologia , Neoplasias Parotídeas/patologia , Biomarcadores Tumorais/análise , Erros de Diagnóstico/prevenção & controle , Feminino , Secções Congeladas , Tumor de Células Granulares/química , Tumor de Células Granulares/cirurgia , Humanos , Imuno-Histoquímica , Pessoa de Meia-Idade , Glândula Parótida/química , Glândula Parótida/cirurgia , Neoplasias Parotídeas/química , Neoplasias Parotídeas/cirurgiaRESUMO
We report 2 cases of PEComa, one occurring in the colon of an 11-year-old boy and the other in the bone (fibula) of a 92-year-old woman. Both tumors consisted of nests of large epithelioid cells surrounded by a fibrovascular stroma. The nuclei were large and vesicular, with prominent centrally located nucleoli. The cytoplasm was eosinophilic, with a fine to coarse granularity. Mitoses and individual cell necrosis were infrequent. Immunohistochemically, both tumors showed strong cytoplasmic expression of HMB-45 and intense nuclear positivity for TFE3. To our knowledge, nuclear positivity for TFE3 has been previously reported in only 5 cases of PEComa. Reactivity to this marker suggests that PEComa should be added to the growing list of human tumors of the so-called MiT family gene.
