Pathology Musculoskeletal 2024 PDF

PATOLOGI MUSKULOSKELETAL 2024 TULANG  KELAINAN KONGENITAL TULANG DAN TULANG RAWAN Osteogenesis Imperfekta (brittle bone disease) mutasi pada gen pada pembentukan kolagen tipe I Akondroplasia (dwarfism) pengaktifan FGFR 3 → pertumbuhan tulang rawan tidak sempurna Osteopetrosis...

PATOLOGI MUSKULOSKELETAL 2024 TULANG  KELAINAN KONGENITAL TULANG DAN TULANG RAWAN Osteogenesis Imperfekta (brittle bone disease) mutasi pada gen pada pembentukan kolagen tipe I Akondroplasia (dwarfism) pengaktifan FGFR 3 → pertumbuhan tulang rawan tidak sempurna Osteopetrosis (marble bone disease) resorpsi tulang oleh ostoklas tidak sempurna → pemadatan tulang PENYAKIT TULANG YANG DIDAPAT OSTEOPOROSIS - massa tulang ↓ - korteks tulang menipis - saluran Havers melebar - trabekula tulang menipis → rentan fraktur OSTEITIS DEFORMANS (PENYAKIT PAGET) - massa tulang ↑ - tulang membesar dan bentuknya tidak teratur RIKETSIA & OSTEOMALASIA - defisiensi vit. D - ↓mineralisasi → penimbunan matriks tulang - Riketsia pd anak-anak → penimbunan matriks di lempeng pertumbuhan - Osteomalasia pd dewasa → kekurangan mineral → mudah fraktur HIPREPARATIROIDISME - ↑ aktifitas osteoklas dan resorpsi tulang → fraktur & deformitas FRAKTUR Pathologis: disebabkan oleh penyakit yang sudah ada sebelumnya, baik penyakit yang sudah diketahui ataupun belum. OSTEOMIELITIS OSTEOMIELITIS PIOGENIK -Staphylococcus aureus >>, E. coli, salmonella, dll -Rὂ: focus litik destruktif dikelilingi edema dan tepi sklerotik OSTEOMIELITIS TUBERKULOSA -M. Tbc -Radang granulomatosa TUMOR TULANG (WHO-2022) Chondrogenic tumors ICD-O Benign Subungual exostosis9213/0 Osteogenic tumors ICD-O Benign Bizarre parosteal osteochondromatous proliferation9212/0 Osteoma, NOS9180/0 Periosteal chondroma9221/0 Osteoid osteoma9191/0 Enchondroma9220/0 Osteochondroma9210/0 Intermediate (locally aggressive) Chondroblastoma, NOS9230/0 Chondromyxoid fibroma9241/0 Osteoblastoma, NOS9200/1 Osteochondromyxoma9211/0 Intermediate (locally aggressive) Malignant Chondromatosis, NOS9220/1 Low grade central osteosarcoma9187/3 Atypical cartilaginous tumor9222/1 Osteosarcoma, NOS9180/3 Malignant Conventional osteosarcoma Chondrosarcoma, grade 19222/3 Chondrosarcoma, grade 29220/3 Telangiectatic osteosarcoma Chondrosarcoma, grade 39220/3 Small cell osteosarcoma Periosteal chondrosarcoma9221/3 Parosteal osteosarcoma9192/3 Clear cell chondrosarcoma9242/3 Mesenchymal chondrosarcoma9240/3 Periosteal osteosarcoma9193/3 Dedifferentiated chondrosarcoma9243/3 High grade surface osteosarcoma9194/3 Secondary osteosarcoma9184/3  Fibrogenic tumors ICD-O Intermediate Other mesenchymal tumors of bone ICD-O (locally aggressive) Benign Desmoplastic fibroma8823/1 Chondromesenchymal hamartoma of chest wall Malignant Simple bone cyst Fibrosarcoma, NOS8810/3 Fibrous dysplasia8818/0 Osteofibrous dysplasia Vascular tumors ICD-O Benign Lipoma, NOS 8850/0 Hemangioma, NOS9120/0 Hibernoma8880/0 Intermediate (locally aggressive) Intermediate (locally aggressive) Epithelioid hemangioma9125/0 Osteofibrous dysplasia-like adamantinoma9261/1 Malignant Mesenchymoma, NOS8990/1 Epithelioid hemangioendothelioma, NOS9133/3 Malignant Angiosarcoma9120/3 Adamantinoma of long bones9261/3 Dedifferentiated adamantinoma  Hematopoietic neoplasms of bone ICD-O Undifferentiated small round cell sarcoma of Plasmacytoma of bone9731/3 bone and soft tissue ICD-O Malignant lymphoma, non-Hodgkin, Ewing sarcoma9364/3 NOS9591/3 Round cell sarcoma with EWSR1 non-ETS Hodgkin disease, NOS9650/3 fusions9366/3 Diffuse large B cell lymphoma, NOS9680/3 CIC rearranged sarcoma9367/3 Follicular lymphoma, NOS9690/3 Sarcoma with BCOR genetic alterations9368/3 Marginal zone B cell lymphoma, NOS9699/3 T cell lymphoma, NOS9702/3 Anaplastic large cell lymphoma, NOS9714/3 Malignant lymphoma, lymphoblastic, NOS9727/3 Burkitt lymphoma, NOS9687/3 Langerhans cell histiocytosis, NOS9751/1 Langerhans cell histiocytosis, disseminated9751/3 Erdheim-Chester disease9749/3 Tumor yang membentuk tulang OSTEOMA - jinak - > di kepala & leher - lesi soliter, tumbuh lambat, keras menonjol keluar dari permukaan tulang - lesi multiple – kelainan herediter “sindroma Gardner” - morfologi: mirip tulang normal, campuran lamella tulang dan tulang utuh OSTEOSARKOMA - >> usia muda dekade pertama dan kedua - male >> - metafisis tulang Panjang di ekstremitas - Rὂ: massa besar, destruktif, campuran litik dan blastik dengan batas infiltrasi tidak jelas, menembus korteks dan mengangkat periosteum yg menghasilkan pembentukan tulang periosteal reaktif – bayangan segi 3 di antara korteks dan periosteum yg terangkat (segitiga Codman)- ciri khas - morfologi: sel tumor pleiomorfik, inti besar, hiperkromatik, sel datia, osteoid (massa eosinofilik) yang dihasilkan sel tumor. Tumor yang membentuk tulang rawan OSTEOKONDROMA - jinak >, usia muda - menempel ke tulang utama dengan tangkai tulang - metafisis tulang panjang, lutut >, pelvis, skapula, iga KONDROMA - soliter, metafisis tulang tubuler pendek pada ekstremitas - bila tumbuh di dalam medulla – Enkondroma - bila tumbuh di permukaan tulang – kondroma juksta kortikal KONDROSARKOMA - ganas - usia decade ke 4 - sering di bahu, pelvis, dan iga - tulang rawan hialin dan miksoid ekspansi ke medulla dan tumbuh melalui korteks membentuk massa di parakorteks - morfologi: sel kondrosit anaplastic di dalam matriks kondroid Ewing Sarkoma Tumor ganas kedua terbanyak pada anak-anak Dekade pertama kehidupan Kelainan kromosom Morfologi: sel-sel tumor bulat berukuran kecil, lebih besar sedikit dari limfosit, uniform, sitoplasma minimal, kadang menyusun “Homer-Wright rosette” SENDI Osteoartritis oDegeneratif karena aging oDekade ke 6 kehidupan oPrimer karena degeneratif; sendi di tangan, lutut, pinggul, dan spinal oSekunder pada usia muda oMorfologi; inflamasi oArtritis Reumatoid Gout asam urat berlebihan yang menumpuk di jaringan maupun cairan tubuh Artritis akut berulang Kumpulan kristal asam urat = tophy Primer; unknown, produksi asam urat berlebihan atau ekskresi asam urat yg berkurang tapi produksinya normal. Sekunder; penyakit sistemik yg menyebabkan hiperurisemia atau ekskresi asam urat berkurang dengan produksi yg normal. JARINGAN LUNAK TUMOR JARINGAN LUNAK (WHO) Adipocytic tumors ICD-O Benign Lipoma, NOS8850/0 Intermediate (locally aggressive) Intramuscular lipoma8856/0 Atypical lipomatous tumor8850/1 Chondrolipoma Lipomatosis Malignant Diffuse lipomatosis Liposarcoma, well differentiated, NOS8851/3 Multiple symmetrical lipomatosis Lipoma-like liposarcoma8851/3 Pelvic lipomatosis Inflammatory liposarcoma8851/3 Steroid lipomatosis Sclerosing liposarcoma8851/3 HIV lipodystrophy Lipomatosis of nerve Dedifferentiated liposarcoma8858/3 Lipoblastomatosis8881/0 Myxoid liposarcoma8852/3 Localized (lipoblastoma) Diffuse (lipoblastomatosis) Pleomorphic liposarcoma8854/3 Angiolipoma, NOS8861/0 Epithelioid liposarcoma Cellular angiolipoma Myxoid pleomorphic liposarcoma8859/3 Myolipoma8890/0 Chondroid lipoma8862/0 Spindle cell lipoma8857/0 Atypical spindle cell / pleomorphic lipomatous tumor 8857/0 Hibernoma 8880/0  Intermediate (locally aggressive) Solitary fibrous tumor, benign8815/0 Fibroblastic and myofibroblastic tumors ICD-O Palmar / plantar type fibromatosis8813/1 Benign Desmoid type fibromatosis8821/1 Nodular fasciitis8828/0 Extra-abdominal desmoid8821/1 Intravascular fasciitis Abdominal fibromatosis8822/1 Cranial fasciitis Proliferative fasciitis8828/0 Lipofibromatosis8851/1 Proliferative myositis8828/0 Giant cell fibroblastoma8834/1 Myositis ossificans and fibro-osseous pseudotumor of digits Intermediate (rarely metastasizing) Ischemic fasciitis Dermatofibrosarcoma protuberans, NOS8832/1 Elastofibroma8820/0 Pigmented dermatofibrosarcoma protuberans8833/1 Fibrous hamartoma of infancy8992/0 Fibromatosis colli Dermatofibrosarcoma protuberans, fibrosarcomatous8832/3 Juvenile hyaline fibromatosis Myxoid dermatofibrosarcoma protuberans Inclusion body fibromatosis Dermatofibrosarcoma protuberans with myoid differentiation Fibroma of tendon sheath8813/0 Plaque-like dermatofibrosarcoma protuberans Demoplastic fibroblastoma8810/0 Solitary fibrous tumor, NOS8815/1 Myofibroblastoma8825/0 Calcifying aponeurotic fibroma8816/0 Fat forming (lipomatous) solitary fibrous tumor EWSR1-SMAD3 positive fibroblastic tumor (emerging) Giant cell rich solitary fibrous tumor Angiomyofibroblastoma8826/0 Inflammatory myofibroblastic tumor8825/1 Cellular angiofibroma9160/0 Epithelioid inflammatory myofibroblastic sarcoma Angiofibroma, NOS9160/0 Myofibroblastic sarcoma8825/3 Nuchal fibroma8810/0 Acral fibromyxoma8811/0 Superficial CD34 positive fibroblastic tumor8810/1 Gardner fibroma8810/0 Myxoinflammatory fibroblastic sarcoma8811/1 Infantile fibrosarcoma8814/3  Malignant Vascular tumors ICD-O Solitary fibrous tumor, malignant8815/3 Benign Fibrosarcoma, NOS8810/3 Hemangioma, NOS9120/0 Myxofibrosarcoma8811/3 Intramuscular hemangioma9132/0 Epithelioid myxofibrosarcoma Arteriovenous hemangioma9123/0 Venous hemangioma9122/0 Low grade fibromyxoid sarcoma8840/3 Anastomosing hemangioma9120/0 Sclerosing epithelioid fibrosarcoma8840/3 Epithelioid hemangioma9125/0 Cellular epithelioid hemangioma So called fibrohistiocytic tumors ICD-O Atypical epithelioid hemangioma Benign Lymphangioma, NOS9170/0 Tenosynovial giant cell tumor, NOS9252/0 Lymphangiomatosis Tenosynovial giant cell tumor, diffuse9252/1 Cystic lymphangioma9173/0 Deep benign fibrous histiocytoma8831/0 Acquired tufted hemangioma9161/0 Intermediate (locally aggressive) Intermediate (rarely metastasizing) Kaposiform hemangioendothelioma9130/1 Plexiform fibrohistiocytic tumor8835/1 Giant cell tumor of soft parts, NOS9251/1  Intermediate (rarely metastasizing) Retiform hemangioendothelioma9136/1 Papillary intralymphatic angioendothelioma9135/1 Composite hemangioendothelioma9136/1 Neuroendocrine composite hemangioendothelioma Kaposi sarcoma9140/3 Classic indolent Kaposi sarcoma Endemic African Kaposi sarcoma AIDS associated Kaposi sarcoma Iatrogenic Kaposi sarcoma Pseudomyogenic (epithelioid sarcoma-like) hemangioendothelioma9138/1 Malignant Epithelioid hemangioendothelioma, NOS9133/3 Epithelioid hemangioendothelioma with WWTR1-CAMTA1 fusion Epithelioid hemangioendothelioma with YAP1-TFE3 fusion Angiosarcoma9120/3  Pericytic (perivascular) tumors ICD-O Smooth muscle tumors ICD-O Benign and Benign and intermediate intermediate Glomus tumor, NOS8711/0 Leiomyoma, NOS8890/0 Glomangioma8712/0 EBV associated smooth muscle tumor / Glomangiomyoma8713/0 smooth muscle tumor Glomangiomatosis8711/1 of uncertain malignant potential 8897/1 Glomus tumor of uncertain malignant potential8711/1 Malignant Myopericytoma8824/0 Leiomyosarcoma, NOS8890/3 Myofibromatosis8824/1 Inflammatory leiomyosarcoma8890/3 Myofibroma8824/0 Infantile myofibromatosis8824/1 Angioleiomyoma8894/0 Malignant Glomus tumor, malignant8711/3  Skeletal muscle tumors ICD-O Benign Gastrointestinal stromal tumors ICD-O Rhabdomyoma, NOS 8900/0 Gastrointestinal stromal tumor8936/3 Fetal rhabdomyoma8903/0 Adult rhabdomyoma8904/0 Genital rhabdomyoma8905/0 Chondro-osseous tumors ICD-O Benign Chondroma, NOS8922/0 Malignant Chondroblastoma-like soft tissue chondroma Embryonal rhabdomyosarcoma, NOS8910/3 Embryonal rhabdomyosarcoma, pleomorphic8920/3 Malignant Alveolar rhabdomyosarcoma8910/3 Osteosarcoma, extraskeletal9180/3 Pleomorphic rhabdomyosarcoma, NOS8901/3 Spindle cell rhabdomyosarcoma, NOS8912/3 Congenital spindle cell rhabdomyosarcoma with VGLL2 / NCOA2 / CITED2 rearrangements MYOD1 mutant spindle cell / sclerosing rhabdomyosarcoma Intraosseous spindle cell rhabdomyosarcoma (with TFCP2 / NCOA2 rearrangements) Peripheral nerve sheath tumors ICD-O Benign Schwannoma, NOS9560/0 Ancient schwannoma9560/0 Cellular schwannoma9560/0 Plexiform schwannoma9560/0 Epithelioid schwannoma Microcystic / reticular schwannoma Neurofibroma, NOS9540/0 Malignant Ancient neurofibroma Malignant peripheral nerve sheath tumor, NOS9540/3 Cellular neurofibroma Malignant peripheral nerve sheath tumor, epithelioid9542/3 Atypical neurofibroma Plexiform neurofibroma9550/0 Melanotic malignant peripheral nerve sheath tumor9540/3 Perineurioma, NOS9571/0 Granular cell tumor, malignant9580/3 Reticular perineurioma Perineurioma, malignant9571/3 Sclerosing perineurioma Granular cell tumor, NOS9580/0 Nerve sheath myxoma9562/0 Solitary circumscribed neuroma9570/0 Plexiform solitary circumscribed neuroma Meningioma, NOS9530/0 Benign triton tumor / neuromuscular choristoma Hybrid nerve sheath tumor9563/0 Perineurioma / schwannoma Schwannoma / neurofibroma Perineurioma / neurofibroma  Malignant Phosphaturic mesenchymal tumor, malignant8990/3 Tumors of uncertain differentiation ICD-O NTRK rearranged spindle cell neoplasm (emerging) Benign Synovial sarcoma, NOS9040/3 Myxoma, NOS8840/0 Synovial sarcoma, spindle cell9041/3 Cellular myxoma Synovial sarcoma, biphasic9043/3 Aggressive angiomyxoma8841/0 Synovial sarcoma, poorly differentiated Pleomorphic hyalinizing angiectatic tumor8802/1 Epithelioid sarcoma8804/3 Phosphaturic mesenchymal tumor, NOS8990/0 Proximal or large cell epithelioid sarcoma Perivascular epithelioid tumor, benign8714/0 Classic epithelioid sarcoma Alveolar soft part sarcoma9581/3 Angiomyolipoma8860/0 Clear cell sarcoma, NOS9044/3 Intermediate (locally aggressive) Extraskeletal myxoid chondrosarcoma9231/3 Hemosiderotic fibrolipomatous tumor8811/1 Desmoplastic small round cell tumor8806/3 Angiomyolipoma, epithelioid8860/1 Rhabdoid tumor, NOS8963/3 Intermediate (rarely metastasizing) Perivascular epithelioid tumor, malignant8714/3 Atypical fibroxanthoma8830/1 Intimal sarcoma9137/3 Angiomatoid fibrous histiocytoma8836/1 Ossifying fibromyxoid tumor, malignant8842/3 Ossifying fibromyxoid tumor, NOS8842/0 Myoepithelial carcinoma8982/3 Mixed tumor, NOS8940/0 Undifferentiated sarcoma8805/3 Spindle cell sarcoma, undifferentiated8801/3 Mixed tumor, malignant, NOS8940/3 Pleomorphic sarcoma, undifferentiated8802/3 Myoepithelioma, NOS8982/0 Round cell sarcoma, undifferentiated8803/3  Undifferentiated small round cell sarcoma of bone and soft tissue ICD-O Ewing sarcoma9364/3 Round cell sarcoma with EWSR1 non-ETS fusions9366/3 CIC rearranged sarcoma9367/3 Sarcoma with BCOR genetic alterations9368/3 LIPOMA DAN LIPOSARKOMA Lipoma - tumor jinak jaringan lemak - > di subkutan - morfologi mirip dengan jaringan lemak normal, tapi dapat dijumpai jaringan lunak lain seperti jaringan ikat, pembuluh darah. Liposarkoma - tumor ganas jaringan lemak - > jaringan lemak di organ dalam mis. di visceral - sel tumor sangat bervariasi FIBROMA/TOSIS & FIBROSARKOMA Fibroma/tosis - superfisial & deep - morfologi; proliferasi sel fibroblast, cenderung uniform, kadang mengandung kolagen padat Fibrosarkoma - Deep; paha, retroperitoneal, lutut - morfologi; sel fibroblast atypik menyusun fasikulus yang saling tumpang tindih, “herring bone” RHABDOMIOMA & RHABDOMIOSARKOMA Rhabdomioma - jarang - jinak Rhabdomiosarkoma - ganas - > pada infant, child, adolescence - tipe; embrional. Alveolar, pleomorfik - morfologi; sel primitif berbentuk seperti raket(strap) Embryonal rhabdomyosarcoma with primitive round cells and occasional strap cells (arrow) with abundant eosinophilic cytoplasm and cross striations (inset). SARKOMA SINOVIAL Berasal dari sel mesenkhimal di persendian Translokasi kromosom; t(X:18)(p11.2;q11.2) Morfologi: sel bipasik, yi. sel epithelial dan sel mesenkhimal menusun seperti kelenjar bercampu dengan berkas jaringan ikat sel mono fasik jarang Diagnostik tumor musculoskeletal: - Bedah / Orthopedi - Radiologi - Patologi Anatomi